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MDGA1 MAM domain containing glycosylphosphatidylinositol anchor 1 [ Homo sapiens (human) ]

Gene ID: 266727, updated on 3-Apr-2024

Summary

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Official Symbol
MDGA1provided by HGNC
Official Full Name
MAM domain containing glycosylphosphatidylinositol anchor 1provided by HGNC
Primary source
HGNC:HGNC:19267
See related
Ensembl:ENSG00000112139 MIM:609626; AllianceGenome:HGNC:19267
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
GPIM; MAMDC3
Summary
This gene encodes a glycosylphosphatidylinositol (GPI)-anchored cell surface glycoprotein that is expressed predominantly in the developing nervous system. In addition to possessing several cell adhesion molecule-like domains, the mature protein has six Ig-like domains, a single fibronectin type III domain, a MAM domain and a C-terminal GPI-anchoring site. Studies in other mammals suggest this protein plays a role in cell adhesion, migration, and axon guidance and, in the developing brain, neuronal migration. In humans, this gene is associated with bipolar disorder and schizophrenia. [provided by RefSeq, Oct 2016]
Expression
Broad expression in brain (RPKM 2.6), ovary (RPKM 2.3) and 21 other tissues See more
Orthologs
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Genomic context

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Location:
6p21.2
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (37630679..37697883, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (37455697..37522898, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (37598455..37665659, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24469 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24471 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24472 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24475 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24476 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17142 Neighboring gene uncharacterized LOC124901313 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:37551989-37552662 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:37552663-37553335 Neighboring gene microRNA 4462 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17144 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37663553-37664282 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17148 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17149 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37664283-37665012 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17147 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17151 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17152 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17153 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:37695835-37696335 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24478 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:37717757-37718578 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:37730195-37730696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:37744227-37744777 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:37744845-37745776 Neighboring gene Sharpr-MPRA regulatory regions 13021 and 15353 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91469 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24480 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37787069-37787871 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17156 Neighboring gene ZFAND3 divergent transcript Neighboring gene RNA, 7SL, cytoplasmic 285, pseudogene Neighboring gene zinc finger AN1-type containing 3

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. The MDGA1 gene confers risk to schizophrenia and bipolar disorder. Li J, et al. Schizophr Res, 2011 Feb. PMID 21146959
  2. Genomic organization of a novel glycosylphosphatidylinositol MAM gene expressed in human tissues and tumors. De Juan C, et al. Oncogene, 2002 May 2. PMID 12082541
  3. Characterization of MDGA1, a novel human glycosylphosphatidylinositol-anchored protein localized in lipid rafts. Díaz-López A, et al. Exp Cell Res, 2005 Jul 1. PMID 15922729
  4. Molecular Mechanism of MDGA1: Regulation of Neuroligin 2:Neurexin Trans-synaptic Bridges. Gangwar SP, et al. Neuron, 2017 Jun 21. PMID 28641112, Free PMC Article
  5. MDGAs interact selectively with neuroligin-2 but not other neuroligins to regulate inhibitory synapse development. Lee K, et al. Proc Natl Acad Sci U S A, 2013 Jan 2. PMID 23248271, Free PMC Article

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MDGAs regulate the formation of neuroligin-neurexin trans-synaptic bridges by sterically blocking access of neurexins to neuroligins.
    Title: Molecular Mechanism of MDGA1: Regulation of Neuroligin 2:Neurexin Trans-synaptic Bridges.
  2. The MDGA1 gene may confer risk to schizophrenia and bipolar disorder in Chinese Han population.
    Title: The MDGA1 gene confers risk to schizophrenia and bipolar disorder.
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  4. MDGA1 is a new schizophrenia susceptibility gene, and altered neuronal migration is involved in SZ pathology.
    Title: Association analysis of schizophrenia on 18 genes involved in neuronal migration: MDGA1 as a new susceptibility gene.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Association analysis of schizophrenia on 18 genes involved in neuronal migration: MDGA1 as a new susceptibility gene.
  6. MDGA1, a novel glycosylphosphatidylinositol-anchored protein, is localized in lipid rafts.
    Title: Characterization of MDGA1, a novel human glycosylphosphatidylinositol-anchored protein localized in lipid rafts.
  7. A novel human gene mapped to chromosome 6p21, encodes a putative glycosylphosphatidylinositol (GPI) anchored protein containing a MAM (meprin, A5 antigen, protein tyrosine phosphatase mu) domain. (GPIM)
    Title: Genomic organization of a novel glycosylphosphatidylinositol MAM gene expressed in human tissues and tumors.
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

  • FLJ45018, DKFZp686K0262, DKFZp686L0262

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in brain development ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in cerebral cortex radially oriented cell migration IEA
Inferred from Electronic Annotation
more info
  
involved_in nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in neuron migration ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of presynapse assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of presynapse assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of synaptic membrane adhesion IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of synaptic membrane adhesion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in spinal cord association neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
Component Evidence Code Pubs
is_active_in GABA-ergic synapse IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in GABA-ergic synapse IMP
Inferred from Mutant Phenotype
more info
 PubMed 
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
  
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in extracellular space HDA PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in side of membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
MAM domain-containing glycosylphosphatidylinositol anchor protein 1
Names
GPI and MAM protein
MAM domain-containing protein 3
glycosylphosphatidylinositol-MAM

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.

Genomic

  1. NG_051764.1 RefSeqGene

    Range
    5108..72312
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_153487.4 → NP_705691.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 1 preproprotein

    See identical proteins and their annotated locations for NP_705691.1

    Status: REVIEWED

    Source sequence(s)
    AF478693, AL049553
    Consensus CDS
    CCDS47417.1
    UniProtKB/Swiss-Prot
    A6NHG0, Q8NBE3, Q8NFP4
    UniProtKB/TrEMBL
    A0A3B3IU48
    Related
    ENSP00000402584.2, ENST00000434837.8
    Conserved Domains (6) summary
    smart00409
    Location:248 → 326
    IG; Immunoglobulin
    smart00410
    Location:152 → 217
    IG_like; Immunoglobulin like
    pfam00629
    Location:753 → 917
    MAM; MAM domain, meprin/A5/mu
    pfam13927
    Location:43 → 112
    Ig_3; Immunoglobulin domain
    cd00096
    Location:56 → 60
    Ig; Ig strand B [structural motif]
    cl11960
    Location:334 → 418
    Ig; Immunoglobulin domain

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    37630679..37697883 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010734.2 → XP_016866223.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 1 isoform X2

    UniProtKB/TrEMBL
    A0A3B3IU48
    Conserved Domains (6) summary
    smart00409
    Location:248 → 326
    IG; Immunoglobulin
    smart00410
    Location:152 → 217
    IG_like; Immunoglobulin like
    pfam00629
    Location:753 → 917
    MAM; MAM domain, meprin/A5/mu
    pfam13927
    Location:43 → 112
    Ig_3; Immunoglobulin domain
    cd00096
    Location:56 → 60
    Ig; Ig strand B [structural motif]
    cl11960
    Location:334 → 418
    Ig; Immunoglobulin domain

  2. XM_006715056.4 → XP_006715119.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006715119.1

    UniProtKB/TrEMBL
    A0A3B3IU48
    Related
    ENSP00000422042.1, ENST00000505425.5
    Conserved Domains (6) summary
    cd06263
    Location:753 → 916
    MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
    cd00096
    Location:153 → 217
    Ig; Immunoglobulin domain
    smart00408
    Location:254 → 315
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:248 → 326
    IG_like; Immunoglobulin like
    pfam00629
    Location:753 → 917
    MAM; MAM domain, meprin/A5/mu
    cl11960
    Location:541 → 622
    Ig; Immunoglobulin domain

  3. XM_047418637.1 → XP_047274593.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 1 isoform X3

  4. XM_047418638.1 → XP_047274594.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 1 isoform X4

    UniProtKB/TrEMBL
    A0A7P0TB62
    Related
    ENSP00000506519.1, ENST00000681472.1

RNA

  1. XR_926141.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    37455697..37522898 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054355158.1 → XP_054211133.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 1 isoform X2

  2. XM_054355157.1 → XP_054211132.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 1 isoform X1

  3. XM_054355159.1 → XP_054211134.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 1 isoform X3

  4. XM_054355160.1 → XP_054211135.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 1 isoform X4

    UniProtKB/TrEMBL
    A0A7P0TB62

RNA

  1. XR_008487298.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NFP4.1 GenPept UniProtKB/Swiss-Prot:Q8NFP4

Gene LinkOut

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