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GUCD1 guanylyl cyclase domain containing 1 [ Homo sapiens (human) ]

Gene ID: 83606, updated on 5-Mar-2024

Summary

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Official Symbol
GUCD1provided by HGNC
Official Full Name
guanylyl cyclase domain containing 1provided by HGNC
Primary source
HGNC:HGNC:14237
See related
Ensembl:ENSG00000138867 MIM:619171; AllianceGenome:HGNC:14237
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LLN4; C22orf13
Expression
Ubiquitous expression in bone marrow (RPKM 29.5), duodenum (RPKM 28.4) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
22q11.23
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (24540438..24555894, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (25002044..25017501, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (24936406..24951862, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene SPECC1L-ADORA2A readthrough (NMD candidate) Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18770 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24825428-24826389 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24829365-24829914 Neighboring gene ADORA2A antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18771 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24831043-24831543 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13551 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:24840685-24840876 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13552 Neighboring gene adenosine A2a receptor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18772 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18773 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:24875502-24875689 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18774 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24901494-24902032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24902033-24902569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18775 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18776 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:24905414-24905687 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18777 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13553 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18778 Neighboring gene beta-ureidopropionase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18779 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24957881-24958382 Neighboring gene uncharacterized LOC124905091 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24980432-24980932 Neighboring gene small nuclear ribonucleoprotein D3 polypeptide Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24980933-24981433 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24987467-24988460 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24988461-24989453 Neighboring gene leucine rich repeat containing 75B Neighboring gene gamma-glutamyltransferase 1

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. MicroRNA-370 Regulates Cellepithelial-Mesenchymal Transition, Migration, Invasion, and Prognosis of Hepatocellular Carcinoma by Targeting GUCD1. He Y, et al. Yonsei Med J, 2019 Mar. PMID 30799589, Free PMC Article
  2. NEDD4 controls the expression of GUCD1, a protein upregulated in proliferating liver cells. Bellet MM, et al. Cell Cycle, 2014. PMID 24743017, Free PMC Article
  3. Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. Navarini AA, et al. Nat Commun, 2014 Jun 13. PMID 24927181
  4. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Fragoza R, et al. Nat Commun, 2019 Sep 12. PMID 31515488, Free PMC Article
  5. Ubiquitin-mediated proteolysis of HuR by heat shock. Abdelmohsen K, et al. EMBO J, 2009 May 6. PMID 19322201, Free PMC Article

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. miR-370 suppressed Hepatocellular carcinoma cell metastasis and epithelial-mesenchymal transition via regulating GUCD1.
    Title: MicroRNA-370 Regulates Cellepithelial-Mesenchymal Transition, Migration, Invasion, and Prognosis of Hepatocellular Carcinoma by Targeting GUCD1.
  2. The expression and function of a ubiquitous protein, GUCD1, were characterized, it might have a role in regulating normal and abnormal cell growth in the liver.
    Title: NEDD4 controls the expression of GUCD1, a protein upregulated in proliferating liver cells.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC1842

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in liver regeneration IEA
Inferred from Electronic Annotation
more info
  
involved_in response to cAMP IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
protein GUCD1
Names
CG13760 gene product [Drosophila melanogaster] homolog
guanylyl cyclase domain-containing protein 1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001284251.2 → NP_001271180.1  protein GUCD1 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AK025242, AK098754, BC002924
    Consensus CDS
    CCDS74833.1
    UniProtKB/TrEMBL
    A0A087WVD9
    Related
    ENSP00000479370.1, ENST00000621833.4
    Conserved Domains (1) summary
    pfam09778
    Location:78 → 292
    Guanylate_cyc_2; Guanylylate cyclase

  2. NM_001284252.2 → NP_001271181.1  protein GUCD1 isoform b

    See identical proteins and their annotated locations for NP_001271181.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in an isoform (b) that is 1 aa shorter than isoform a.
    Source sequence(s)
    AK025242, AK098754
    Consensus CDS
    CCDS63427.1
    UniProtKB/Swiss-Prot
    Q96NT3
    Related
    ENSP00000384121.3, ENST00000404664.7
    Conserved Domains (1) summary
    pfam09778
    Location:78 → 291
    Guanylate_cyc_2; Guanylylate cyclase

  3. NM_001284253.2 → NP_001271182.1  protein GUCD1 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses two alternate in-frame splice sites in the 3' coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
    Source sequence(s)
    AK025242, AK098754, DA033557
    Conserved Domains (1) summary
    pfam09778
    Location:78 → 248
    Guanylate_cyc_2; Guanylylate cyclase

  4. NM_001284254.2 → NP_001271183.1  protein GUCD1 isoform e

    See identical proteins and their annotated locations for NP_001271183.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains an alternate 5' terminal exon and it thus differs in the 5' UTR and 5' coding region, and it uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (e) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AK025242, BC041568, BC070109, DA776135, DA937738
    Consensus CDS
    CCDS63426.1
    UniProtKB/TrEMBL
    Q7Z629
    Related
    ENSP00000405985.1, ENST00000435822.6
    Conserved Domains (1) summary
    pfam09778
    Location:22 → 235
    Guanylate_cyc_2; Guanylylate cyclase

  5. NM_001284255.2 → NP_001271184.1  protein GUCD1 isoform f

    See identical proteins and their annotated locations for NP_001271184.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) contains an alternate 5' terminal exon and it thus differs in the 5' UTR and 5' coding region, and it uses two alternate in-frame splice sites in the 3' coding region, compared to variant 1. The encoded isoform (f) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AK025242, BC041568, BC053529, DA776135, DA937738
    UniProtKB/TrEMBL
    B4DL90, Q7Z629
    Conserved Domains (1) summary
    pfam09778
    Location:22 → 192
    Guanylate_cyc_2; Guanylylate cyclase

  6. NM_001284256.2 → NP_001271185.1  protein GUCD1 isoform g

    See identical proteins and their annotated locations for NP_001271185.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) contains an alternate 5' terminal exon and it thus differs in the 5' UTR and 5' coding region, and it lacks an alternate exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (g) has distinct N- and C-termini and is shorter than isoform a.
    Source sequence(s)
    AK025242, AK098754, BQ893876, DA776135
    Consensus CDS
    CCDS74832.1
    UniProtKB/TrEMBL
    B5MCF3, E9PGZ7
    Related
    ENSP00000384378.1, ENST00000402766.5
    Conserved Domains (1) summary
    cl00296
    Location:22 → 129
    Peptidase_C39_like; Peptidase family C39 mostly contains bacteriocin-processing endopeptidases from bacteria. The cysteine peptidases in family C39 cleave the "double-glycine" leader peptides from the precursors of various bacteriocins (mostly non-lantibiotic). The cleavage ...

  7. NM_001284257.2 → NP_001271186.1  protein GUCD1 isoform h

    See identical proteins and their annotated locations for NP_001271186.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) contains an alternate 5' terminal exon and it thus differs in the 5' UTR and 5' coding region, and it lacks an alternate exon and uses an alternate splice site that result in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (h) has distinct N- and C-termini and is shorter than isoform a.
    Source sequence(s)
    AK025242, AK098754, BU153022, DA776135
    Consensus CDS
    CCDS74831.1
    UniProtKB/TrEMBL
    B5MCF3, E7EX77
    Related
    ENSP00000387867.2, ENST00000447813.6
    Conserved Domains (1) summary
    cl00296
    Location:22 → 128
    Peptidase_C39_like; Peptidase family C39 mostly contains bacteriocin-processing endopeptidases from bacteria. The cysteine peptidases in family C39 cleave the "double-glycine" leader peptides from the precursors of various bacteriocins (mostly non-lantibiotic). The cleavage ...

  8. NM_031444.4 → NP_113632.2  protein GUCD1 isoform d

    See identical proteins and their annotated locations for NP_113632.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an alternate 5' terminal exon and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (d) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AK025242, BC041568, BX346077, DA776135, DA937738
    Consensus CDS
    CCDS33621.1
    UniProtKB/Swiss-Prot
    B5MCB8, B5MCL7, Q96NT3, Q96Q79, Q9BU32
    UniProtKB/TrEMBL
    Q7Z629
    Related
    ENSP00000386076.3, ENST00000407471.7
    Conserved Domains (1) summary
    pfam09778
    Location:22 → 236
    Guanylate_cyc_2; Guanylylate cyclase

RNA

  1. NR_104286.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9) contains an alternate 5' terminal exon and lacks two internal exons, compared to variant 1. This variant is represented as non-coding because use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK025242, AK098754, HY059446

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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    24540438..24555894 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005261761.3 → XP_005261818.1  protein GUCD1 isoform X1

    Conserved Domains (1) summary
    cl00296
    Location:78 → 185
    Peptidase_C39_like; Peptidase family C39 mostly contains bacteriocin-processing endopeptidases from bacteria. The cysteine peptidases in family C39 cleave the "double-glycine" leader peptides from the precursors of various bacteriocins (mostly non-lantibiotic). The cleavage ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    25002044..25017501 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054325998.1 → XP_054181973.1  protein GUCD1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96NT3.2 GenPept UniProtKB/Swiss-Prot:Q96NT3

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