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

Gene ID: 266727, updated on 8-Jul-2021

Summary

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
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

See MDGA1 in Genome Data Viewer
Location:
6p21.2
Exon count:
18
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (37630679..37697883, complement)
105.20201022 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 long intergenic non-protein coding RNA 2520 Neighboring gene microRNA 4462 Neighboring gene Sharpr-MPRA regulatory regions 13021 and 15353 Neighboring gene uncharacterized LOC107986593

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 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 
located_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 
located_in GABA-ergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 
located_in anchored component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in anchored component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
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
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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_153487.4NP_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
    Q8NFP4
    Related
    ENSP00000402584.2, ENST00000434837.8
    Conserved Domains (6) summary
    smart00409
    Location:248326
    IG; Immunoglobulin
    smart00410
    Location:152217
    IG_like; Immunoglobulin like
    pfam00629
    Location:753917
    MAM; MAM domain, meprin/A5/mu
    pfam13927
    Location:43112
    Ig_3; Immunoglobulin domain
    cd00096
    Location:5660
    Ig; Ig strand B [structural motif]
    cl11960
    Location:334418
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

    Conserved Domains (6) summary
    smart00409
    Location:248326
    IG; Immunoglobulin
    smart00410
    Location:152217
    IG_like; Immunoglobulin like
    pfam00629
    Location:753917
    MAM; MAM domain, meprin/A5/mu
    pfam13927
    Location:43112
    Ig_3; Immunoglobulin domain
    cd00096
    Location:5660
    Ig; Ig strand B [structural motif]
    cl11960
    Location:334418
    Ig; Immunoglobulin domain
  2. XM_006715056.3XP_006715119.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006715119.1

    UniProtKB/Swiss-Prot
    Q8NFP4
    Related
    ENSP00000422042.1, ENST00000505425.5
    Conserved Domains (6) summary
    cd06263
    Location:753916
    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:153217
    Ig; Immunoglobulin domain
    smart00408
    Location:254315
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:248326
    IG_like; Immunoglobulin like
    pfam00629
    Location:753917
    MAM; MAM domain, meprin/A5/mu
    cl11960
    Location:541622
    Ig; Immunoglobulin domain

RNA

  1. XR_926142.2 RNA Sequence

  2. XR_926140.2 RNA Sequence

  3. XR_926141.2 RNA Sequence

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