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GPHN gephyrin [ Homo sapiens (human) ]

Gene ID: 10243, updated on 3-Apr-2024

Summary

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Official Symbol
GPHNprovided by HGNC
Official Full Name
gephyrinprovided by HGNC
Primary source
HGNC:HGNC:15465
See related
Ensembl:ENSG00000171723 MIM:603930; AllianceGenome:HGNC:15465
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GPH; GEPH; HKPX1; GPHRYN; MOCODC
Summary
This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in kidney (RPKM 7.5), liver (RPKM 6.6) and 25 other tissues See more
Orthologs
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Genomic context

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See GPHN in Genome Data Viewer
Location:
14q23.3-q24.1
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (66508147..67735355)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (60715132..61942473)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (66974865..67648520)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak2176 silencer Neighboring gene long intergenic non-protein coding RNA 2290 Neighboring gene MPRA-validated peak2177 silencer Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_35463 and experimental_35465 Neighboring gene Sharpr-MPRA regulatory region 5211 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35483 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35504 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35506 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35524 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5853 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8569 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35661 Neighboring gene coiled-coil domain containing 196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8570 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8571 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8572 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8573 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8574 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35749 Neighboring gene MPRA-validated peak2180 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35767 Neighboring gene uncharacterized LOC124903332 Neighboring gene probable ribosome biogenesis protein RLP24 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35856 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35883 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:67399728-67400927 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36038 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:67498602-67499102 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36114 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:67534507-67535036 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:67533977-67534506 Neighboring gene uncharacterized LOC105370538 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8575 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36177 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:67634697-67635896 Neighboring gene Sharpr-MPRA regulatory region 5377 Neighboring gene uncharacterized LOC124903330 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8576 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5855 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:67723162-67723330 Neighboring gene MPRA-validated peak2181 silencer Neighboring gene splicing factor 3b, subunit 4 pseudogene 1 Neighboring gene golgi associated RAB2 interactor family member 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:67825632-67826418 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8578 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36264 Neighboring gene Sharpr-MPRA regulatory region 12737 Neighboring gene protein associated with LIN7 1, MAGUK p55 family member Neighboring gene GATA motif-containing MPRA enhancer 49 Neighboring gene uncharacterized LOC105370542 Neighboring gene ATPase H+ transporting V1 subunit D Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:67924725-67925224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:67924223-67924724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8579 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:67955013-67955512 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:67958119-67958659 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:67958660-67959199 Neighboring gene eukaryotic translation initiation factor 2 subunit alpha Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5857 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8581 Neighboring gene pleckstrin 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:68023408-68024607 Neighboring gene microRNA 5694 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:68026469-68026968 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:68025967-68026468 Neighboring gene transmembrane protein 229B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8582 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5859 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8583 Neighboring gene protein kinase C eta pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5860 Neighboring gene uncharacterized LOC124903331 Neighboring gene pleckstrin homology, MyTH4 and FERM domain containing H1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5862 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5861 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5864 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5863 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5865 Neighboring gene Sharpr-MPRA regulatory region 4541 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5866 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:68161998-68162634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8585 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8584 Neighboring gene high mobility group box 1 pseudogene 34 Neighboring gene RNA, 5S ribosomal pseudogene 386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:68195910-68196540 Neighboring gene cytochrome c oxidase subunit 7A2 pseudogene 1 Neighboring gene RNA, 7SL, cytoplasmic 369, pseudogene Neighboring gene DnaJ heat shock protein family (Hsp40) member C9 pseudogene Neighboring gene phosphatidylinositol glycan anchor biosynthesis class H Neighboring gene vesicle transport through interaction with t-SNAREs 1B Neighboring gene arginase 2 Neighboring gene RNA, 7SL, cytoplasmic 213, pseudogene Neighboring gene ribosomal protein L21 pseudogene 9 Neighboring gene retinol dehydrogenase 11 Neighboring gene zinc finger FYVE-type containing 26 Neighboring gene retinol dehydrogenase 12

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Complex regulation of Gephyrin splicing is a determinant of inhibitory postsynaptic diversity. Dos Reis R, et al. Nat Commun, 2022 Jun 18. PMID 35717442, Free PMC Article
  2. Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients. Fernández-Marmiesse A, et al. Front Neurosci, 2019. PMID 31780880, Free PMC Article
  3. Human gephyrin is encompassed within giant functional noncoding yin-yang sequences. Climer S, et al. Nat Commun, 2015 Mar 27. PMID 25813846, Free PMC Article
  4. Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis. Hartmann C, et al. Epilepsia, 2015 Mar. PMID 25690317, Free PMC Article
  5. Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy. Dejanovic B, et al. Neurobiol Dis, 2014 Jul. PMID 24561070

See all (111) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Complex regulation of Gephyrin splicing is a determinant of inhibitory postsynaptic diversity.
    Title: Complex regulation of Gephyrin splicing is a determinant of inhibitory postsynaptic diversity.
  2. Using quantitative photoactivated localisation microscopy the authors found that alpha-1 and alpha-3 containing glycine receptors display the same alpha3:beta2 stoichiometry and gephyrin binding.
    Title: Alpha subunit-dependent glycine receptor clustering and regulation of synaptic receptor numbers.
  3. This study shown that the SNPs located in the rs723432 (Pallele=0.007; uncorrected) in the GPHN gene showed associated with Japanese individuals affected with schizophrenia.
    Title: Comprehensive association analysis of 27 genes from the GABAergic system in Japanese individuals affected with schizophrenia.
  4. these data reveal that IQSEC3 acts together with gephyrin to regulate inhibitory synapse development.
    Title: IQ Motif and SEC7 Domain-containing Protein 3 (IQSEC3) Interacts with Gephyrin to Promote Inhibitory Synapse Formation.
  5. A missense mutation of gephyrin that was unable to synthesize MoCo and activate MoCo-dependent enzymes was identified.
    Title: Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.
  6. A yin-yang haplotype pattern encompassing gephyrin consists of 284 divergent nucleotide states and both variants vary drastically from their mutual ancestral haplotype, suggesting rapid evolution.
    Title: Human gephyrin is encompassed within giant functional noncoding yin-yang sequences.
  7. The N-terminal region of GABRA3 and the GlyR beta subunit occupies the same binding site of gephyrin.
    Title: Molecular basis of the alternative recruitment of GABA(A) versus glycine receptors through gephyrin.
  8. Results show that PKC-dependent phosphorylation of GAP43 plays a critical role in regulating postsynaptic gephyrin aggregation in developing GABAergic synapses.
    Title: Protein kinase C-dependent growth-associated protein 43 phosphorylation regulates gephyrin aggregation at developing GABAergic synapses.
  9. Structural exonic microdeletions affecting the GPHN gene constitute a rare genetic risk factor for IGE and other neuropsychiatric disorders by an impairment of the GABAergic inhibitory synaptic transmission.
    Title: Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy.
  10. The enhancement of Cb-induced gephyrin clustering by GTP-TC10 does not depend on the guanine nucleotide exchange activity of Cb but involves an interaction that resembles reported interactions of other small GTPases with their effectors
    Title: Collybistin activation by GTP-TC10 enhances postsynaptic gephyrin clustering and hippocampal GABAergic neurotransmission.
Submit: New GeneRIF Correction See all GeneRIFs (33)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated 2022-06-22)

ClinGen Genome Curation PagePubMed
Triplosensitivity

No evidence available (Last evaluated 2022-06-22)

ClinGen Genome Curation Page

EBI GWAS Catalog

Description
A genome-wide association study of depressive symptoms.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1385

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables molybdopterin adenylyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables molybdopterin cofactor binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables molybdopterin molybdotransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables nitrate reductase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in Mo-molybdopterin cofactor biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in establishment of synaptic specificity at neuromuscular junction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in gamma-aminobutyric acid receptor clustering IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in gamma-aminobutyric acid receptor clustering IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in gamma-aminobutyric acid receptor clustering IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in glycine receptor clustering IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in molybdopterin cofactor biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in molybdopterin cofactor biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in postsynaptic neurotransmitter receptor diffusion trapping IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in response to metal ion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in dendrite IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in dendrite IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in postsynaptic density ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in postsynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in postsynaptic membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in postsynaptic specialization IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in postsynaptic specialization membrane IEA
Inferred from Electronic Annotation
more info
  
located_in synaptic membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in synaptic membrane ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
gephyrin
NP_001019389.1
NP_001364443.1
NP_001364444.1
NP_001364445.1
NP_001364446.1
NP_001364447.1
NP_001364448.1
NP_065857.1
XP_011534642.1
XP_011534644.1
XP_011534645.1
XP_011534646.1
XP_011534647.1
XP_016876402.1
XP_016876403.1
XP_016876406.1
XP_016876407.1
XP_047286831.1
XP_047286832.1
XP_047286833.1
XP_047286834.1
XP_047286835.1
XP_047286836.1
XP_054231228.1
XP_054231229.1
XP_054231230.1
XP_054231231.1
XP_054231232.1
XP_054231233.1
XP_054231234.1
XP_054231235.1
XP_054231236.1
XP_054231237.1
XP_054231238.1
XP_054231239.1
XP_054231240.1
XP_054231241.1
XP_054231242.1
XP_054231243.1

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008875.2 RefSeqGene

    Range
    5002..678658
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001024218.2 → NP_001019389.1  gephyrin isoform 2

    See identical proteins and their annotated locations for NP_001019389.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also known as Geph2, lacks an alternate, in-frame exon, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
    Consensus CDS
    CCDS32103.1
    UniProtKB/Swiss-Prot
    Q96KU4, Q9H4E9, Q9NQX3, Q9P2G2
    UniProtKB/TrEMBL
    B7Z4J7
    Related
    ENSP00000312771.5, ENST00000315266.9
    Conserved Domains (2) summary
    cd00886
    Location:15 → 169
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:327 → 733
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...

  2. NM_001377514.1 → NP_001364443.1  gephyrin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
    UniProtKB/TrEMBL
    B7Z2B5
    Conserved Domains (2) summary
    cd00886
    Location:15 → 182
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:380 → 786
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...

  3. NM_001377515.1 → NP_001364444.1  gephyrin isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
    UniProtKB/TrEMBL
    B7Z2B5
    Conserved Domains (2) summary
    cd00886
    Location:15 → 169
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:370 → 776
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...

  4. NM_001377516.1 → NP_001364445.1  gephyrin isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
    UniProtKB/TrEMBL
    B7Z2B5
    Conserved Domains (2) summary
    cd00886
    Location:15 → 169
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:367 → 773
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...

  5. NM_001377517.1 → NP_001364446.1  gephyrin isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
    UniProtKB/TrEMBL
    B7Z2B5
    Conserved Domains (2) summary
    cd00886
    Location:15 → 169
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:351 → 757
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...

  6. NM_001377518.1 → NP_001364447.1  gephyrin isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
    UniProtKB/TrEMBL
    B7Z2B5
    Conserved Domains (2) summary
    cd00886
    Location:15 → 169
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:346 → 752
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...

  7. NM_001377519.1 → NP_001364448.1  gephyrin isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
    UniProtKB/TrEMBL
    B7Z2B5
    Conserved Domains (2) summary
    cd00886
    Location:15 → 182
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:340 → 746
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...

  8. NM_020806.5 → NP_065857.1  gephyrin isoform 1

    See identical proteins and their annotated locations for NP_065857.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also known as GephP1, represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
    Consensus CDS
    CCDS9777.1
    UniProtKB/TrEMBL
    B2RDJ7
    Related
    ENSP00000417901.1, ENST00000478722.6
    Conserved Domains (2) summary
    cd00886
    Location:15 → 169
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:360 → 766
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    66508147..67735355
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047430879.1 → XP_047286835.1  gephyrin isoform X13

  2. XM_011536340.4 → XP_011534642.1  gephyrin isoform X1

    See identical proteins and their annotated locations for XP_011534642.1

    UniProtKB/TrEMBL
    B2RDJ7
    Conserved Domains (2) summary
    cd00886
    Location:15 → 182
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:416 → 822
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...

  3. XM_017020913.3 → XP_016876402.1  gephyrin isoform X2

    UniProtKB/TrEMBL
    B2RDJ7
    Conserved Domains (2) summary
    cd00886
    Location:15 → 182
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:413 → 819
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...

  4. XM_011536343.4 → XP_011534645.1  gephyrin isoform X5

    See identical proteins and their annotated locations for XP_011534645.1

    UniProtKB/TrEMBL
    B2RDJ7
    Conserved Domains (2) summary
    cd00886
    Location:15 → 182
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:392 → 798
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...

  5. XM_017020914.3 → XP_016876403.1  gephyrin isoform X4

    UniProtKB/TrEMBL
    B2RDJ7
    Conserved Domains (2) summary
    cd00886
    Location:15 → 182
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:397 → 803
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...

  6. XM_011536345.4 → XP_011534647.1  gephyrin isoform X9

    See identical proteins and their annotated locations for XP_011534647.1

    UniProtKB/TrEMBL
    B2RDJ7
    Conserved Domains (2) summary
    cd00886
    Location:15 → 182
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:373 → 779
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...

  7. XM_011536344.4 → XP_011534646.1  gephyrin isoform X7

    See identical proteins and their annotated locations for XP_011534646.1

    UniProtKB/TrEMBL
    B7Z2B5
    Conserved Domains (2) summary
    cd00886
    Location:15 → 182
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:383 → 789
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...

  8. XM_017020918.3 → XP_016876407.1  gephyrin isoform X11

    UniProtKB/TrEMBL
    B7Z2B5
    Related
    ENSP00000438404.1, ENST00000543237.5
    Conserved Domains (2) summary
    cd00886
    Location:15 → 182
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:359 → 765
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...

  9. XM_017020917.3 → XP_016876406.1  gephyrin isoform X10

    UniProtKB/TrEMBL
    B7Z2B5

  10. XM_011536342.4 → XP_011534644.1  gephyrin isoform X3

    See identical proteins and their annotated locations for XP_011534644.1

    UniProtKB/TrEMBL
    B2RDJ7
    Conserved Domains (2) summary
    cd00886
    Location:15 → 169
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:403 → 809
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...

  11. XM_047430876.1 → XP_047286832.1  gephyrin isoform X8

  12. XM_047430875.1 → XP_047286831.1  gephyrin isoform X6

  13. XM_047430878.1 → XP_047286834.1  gephyrin isoform X12

  14. XM_047430877.1 → XP_047286833.1  gephyrin isoform X12

  15. XM_047430880.1 → XP_047286836.1  gephyrin isoform X14

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    60715132..61942473
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054375267.1 → XP_054231242.1  gephyrin isoform X13

  2. XM_054375253.1 → XP_054231228.1  gephyrin isoform X1

  3. XM_054375254.1 → XP_054231229.1  gephyrin isoform X2

  4. XM_054375257.1 → XP_054231232.1  gephyrin isoform X5

  5. XM_054375256.1 → XP_054231231.1  gephyrin isoform X4

  6. XM_054375261.1 → XP_054231236.1  gephyrin isoform X9

  7. XM_054375259.1 → XP_054231234.1  gephyrin isoform X7

  8. XM_054375263.1 → XP_054231238.1  gephyrin isoform X11

  9. XM_054375262.1 → XP_054231237.1  gephyrin isoform X10

  10. XM_054375255.1 → XP_054231230.1  gephyrin isoform X3

  11. XM_054375260.1 → XP_054231235.1  gephyrin isoform X8

  12. XM_054375258.1 → XP_054231233.1  gephyrin isoform X6

  13. XM_054375264.1 → XP_054231239.1  gephyrin isoform X15

  14. XM_054375266.1 → XP_054231241.1  gephyrin isoform X12

  15. XM_054375265.1 → XP_054231240.1  gephyrin isoform X12

  16. XM_054375268.1 → XP_054231243.1  gephyrin isoform X14

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NQX3.1 GenPept UniProtKB/Swiss-Prot:Q9NQX3

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