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Aliases for MDGA1 Gene

Aliases for MDGA1 Gene

  • MAM Domain Containing Glycosylphosphatidylinositol Anchor 1 2 3 5
  • Glycosylphosphatidylinositol-MAM 3 4
  • MAM Domain-Containing Protein 3 3 4
  • GPI And MAM Protein 3 4
  • MAMDC3 3 4
  • GPIM 3 4
  • MAM Domain-Containing Glycosylphosphatidylinositol Anchor Protein 1 3

External Ids for MDGA1 Gene

Previous GeneCards Identifiers for MDGA1 Gene

  • GC06U990326
  • GC06M037596
  • GC06M037647
  • GC06M037708
  • GC06M037319
  • GC06M037598

Summaries for MDGA1 Gene

Entrez Gene Summary for MDGA1 Gene

  • 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]

GeneCards Summary for MDGA1 Gene

MDGA1 (MAM Domain Containing Glycosylphosphatidylinositol Anchor 1) is a Protein Coding gene. Diseases associated with MDGA1 include Bipolar Disorder and Schizophrenia. Among its related pathways are Post-translational modification- synthesis of GPI-anchored proteins and Metabolism of proteins. An important paralog of this gene is MDGA2.

UniProtKB/Swiss-Prot for MDGA1 Gene

  • Required for radial migration of cortical neurons in the superficial layer of the neocortex (By similarity). Plays a role in the formation or maintenance of inhibitory synapses. May function by inhibiting the activity of NLGN2.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MDGA1 Gene

Genomics for MDGA1 Gene

Regulatory Elements for MDGA1 Gene

Enhancers for MDGA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G037704 1.8 FANTOM5 Ensembl ENCODE dbSUPER 70.9 -6.4 -6353 1.9 ATF1 YY1 ZNF121 GLIS2 KLF7 KLF13 KDM4B ZNF263 SP3 REST MDGA1 TBC1D22B GC06P041058 ENSG00000225945
GH06G037628 1.1 Ensembl ENCODE 35.6 +69.1 69137 2.5 ZNF766 GATA2 ELK1 FOS CREM CEBPB NCOA1 ELF1 NR2F2 NFIC MDGA1 GC06M037868 ENSG00000279942
GH06G037648 1.1 Ensembl ENCODE 34.1 +50.4 50441 1.6 KLF17 ZNF335 GLIS2 EGR1 FOS CREM EGR2 ZNF263 ZEB2 TSHZ1 MDGA1 RNF8 GC06M037868 ENSG00000279942
GH06G037670 1 dbSUPER 26.5 +25.8 25762 6.8 ATF1 FOXA2 TCF12 ZNF121 GATA2 ELK1 CBX5 KLF13 NCOA1 REST MDGA1 RNF8 GC06M037868
GH06G037664 0.7 dbSUPER 33.6 +34.9 34864 2.6 ZNF639 CTCF KLF1 BHLHE40 ZSCAN4 ZNF175 ZNF589 POLR2A ETV6 ZNF584 MDGA1 GC06M037868
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MDGA1 on UCSC Golden Path with GeneCards custom track

Promoters for MDGA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000196437 1306 2401 ARNT SIN3A ZNF2 ZNF48 GLIS2 KLF7 ZNF263 SP3 CBX8 ZNF610

Genomic Location for MDGA1 Gene

Chromosome:
6
Start:
37,630,679 bp from pter
End:
37,699,306 bp from pter
Size:
68,628 bases
Orientation:
Minus strand

Genomic View for MDGA1 Gene

Genes around MDGA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MDGA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MDGA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MDGA1 Gene

Proteins for MDGA1 Gene

  • Protein details for MDGA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFP4-MDGA1_HUMAN
    Recommended name:
    MAM domain-containing glycosylphosphatidylinositol anchor protein 1
    Protein Accession:
    Q8NFP4
    Secondary Accessions:
    • A6NHG0
    • Q8NBE3

    Protein attributes for MDGA1 Gene

    Size:
    955 amino acids
    Molecular mass:
    105790 Da
    Quaternary structure:
    • Interacts heterophilically through its MAM domain with proteins in axon-rich regions and through its Ig-like domains with proteins in differentiating muscle (By similarity). Interacts (through the Ig-like domains) with NLGN2.
    SequenceCaution:
    • Sequence=BAC03502.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for MDGA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MDGA1 Gene

Post-translational modifications for MDGA1 Gene

  • Glycosylation at posLast=4242, Asn90, posLast=235235, posLast=247247, posLast=257257, Asn307, Asn331, Asn432, Asn655, posLast=747747, and Asn826
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MDGA1 Gene

Domains & Families for MDGA1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MDGA1: view

No data available for UniProtKB/Swiss-Prot for MDGA1 Gene

Function for MDGA1 Gene

Molecular function for MDGA1 Gene

UniProtKB/Swiss-Prot Function:
Required for radial migration of cortical neurons in the superficial layer of the neocortex (By similarity). Plays a role in the formation or maintenance of inhibitory synapses. May function by inhibiting the activity of NLGN2.

Gene Ontology (GO) - Molecular Function for MDGA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with MDGA1: view
genes like me logo Genes that share phenotypes with MDGA1: view

Animal Models for MDGA1 Gene

MGI Knock Outs for MDGA1:

Animal Model Products

  • Taconic Biosciences Mouse Models for MDGA1

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MDGA1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MDGA1 Gene

Localization for MDGA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MDGA1 Gene

Cell membrane; Lipid-anchor, GPI-anchor. Note=Associated with lipid rafts.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MDGA1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
golgi apparatus 2
peroxisome 1
nucleus 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MDGA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 22664934
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0031225 anchored component of membrane IEA --
genes like me logo Genes that share ontologies with MDGA1: view

Pathways & Interactions for MDGA1 Gene

genes like me logo Genes that share pathways with MDGA1: view

Interacting Proteins for MDGA1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000402584%0d%0a9606.ENSP00000317980%0d%0a
Selected Interacting proteins: ENSP00000402584 Q8NFP4-MDGA1_HUMAN for MDGA1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for MDGA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration ISS --
GO:0006501 C-terminal protein lipidation TAS --
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0007420 brain development ISS 15019943
genes like me logo Genes that share ontologies with MDGA1: view

No data available for SIGNOR curated interactions for MDGA1 Gene

Transcripts for MDGA1 Gene

Unigene Clusters for MDGA1 Gene

MAM domain containing glycosylphosphatidylinositol anchor 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MDGA1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MDGA1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18a ·
SP1:
SP2: - -
SP3: -
SP4:
SP5:
SP6: - -
SP7: -
SP8: -
SP9:
SP10:
SP11: -
SP12: -

ExUns: 18b · 18c ^ 19 ^ 20a · 20b · 20c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for MDGA1 Gene

GeneLoc Exon Structure for
MDGA1
ECgene alternative splicing isoforms for
MDGA1

Expression for MDGA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MDGA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MDGA1 Gene

This gene is overexpressed in Brain - Cerebellum (x19.2) and Brain - Cerebellar Hemisphere (x16.8).

Protein differential expression in normal tissues from HIPED for MDGA1 Gene

This gene is overexpressed in Fetal Brain (56.4) and Retina (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MDGA1 Gene



Protein tissue co-expression partners for MDGA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MDGA1 Gene:

MDGA1

SOURCE GeneReport for Unigene cluster for MDGA1 Gene:

Hs.437993

mRNA Expression by UniProt/SwissProt for MDGA1 Gene:

Q8NFP4-MDGA1_HUMAN
Tissue specificity: Has been found in brain, heart, skeletal muscle and kidney. Found to be overexpressed in tumor tissues.

Evidence on tissue expression from TISSUES for MDGA1 Gene

  • Adrenal gland(5)
  • Nervous system(4.8)
  • Bone marrow(4)
genes like me logo Genes that share expression patterns with MDGA1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MDGA1 Gene

Orthologs for MDGA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MDGA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MDGA1 34 35
  • 99.72 (n)
dog
(Canis familiaris)
Mammalia MDGA1 34 35
  • 92.42 (n)
cow
(Bos Taurus)
Mammalia MDGA1 34 35
  • 92.36 (n)
mouse
(Mus musculus)
Mammalia Mdga1 34 16 35
  • 89.83 (n)
rat
(Rattus norvegicus)
Mammalia Mdga1 34
  • 89.38 (n)
oppossum
(Monodelphis domestica)
Mammalia MDGA1 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MDGA1 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves MDGA1 34 35
  • 74.53 (n)
lizard
(Anolis carolinensis)
Reptilia MDGA1 35
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.13549 34
zebrafish
(Danio rerio)
Actinopterygii LOC569180 34
  • 65.07 (n)
MDGA1 35
  • 61 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 33 (a)
OneToMany
Species where no ortholog for MDGA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MDGA1 Gene

ENSEMBL:
Gene Tree for MDGA1 (if available)
TreeFam:
Gene Tree for MDGA1 (if available)

Paralogs for MDGA1 Gene

Paralogs for MDGA1 Gene

(8) SIMAP similar genes for MDGA1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with MDGA1: view

Variants for MDGA1 Gene

Sequence variations from dbSNP and Humsavar for MDGA1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs864309493 Uncertain significance 37,638,307(-) TTATT(G/T)TTGAG nc-transcript-variant, downstream-variant-500B, reference, missense
rs864309630 Uncertain significance 37,644,563(-) ATGCC(C/T)TCACC nc-transcript-variant, reference, missense
rs1000009917 -- 37,686,639(+) CCAGG(C/T)TGGTC intron-variant
rs1000022709 -- 37,652,774(+) GACCC(C/G)TACAA intron-variant
rs1000038336 -- 37,679,748(+) CATGG(C/T)TTCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MDGA1 Gene

Variant ID Type Subtype PubMed ID
esv2667581 CNV deletion 23128226
esv2731934 CNV deletion 23290073
esv2752124 CNV gain 17911159
esv27953 CNV loss 19812545
nsv1015689 CNV gain 25217958
nsv958351 CNV deletion 24416366

Variation tolerance for MDGA1 Gene

Residual Variation Intolerance Score: 18.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.35; 76.84% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MDGA1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MDGA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MDGA1 Gene

Disorders for MDGA1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MDGA1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
bipolar disorder
  • bipolar depression
schizophrenia
  • schizophrenia 12
- elite association - COSMIC cancer census association via MalaCards
Search MDGA1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MDGA1

Genetic Association Database (GAD)
MDGA1
Human Genome Epidemiology (HuGE) Navigator
MDGA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MDGA1
genes like me logo Genes that share disorders with MDGA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MDGA1 Gene

Publications for MDGA1 Gene

  1. Characterization of MDGA1, a novel human glycosylphosphatidylinositol-anchored protein localized in lipid rafts. (PMID: 15922729) Diaz-Lopez A. … De Juan C. (Exp. Cell Res. 2005) 2 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. WITHDRAWN: Common polymorphisms in the MDGA1 gene are associated with bipolar disorder and schizophrenia in the Chinese Han population. (PMID: 20036297) Li J. … Shi Y. (Prog. Neuropsychopharmacol. Biol. Psychiatry 2009) 3 46 64
  4. Association analysis of schizophrenia on 18 genes involved in neuronal migration: MDGA1 as a new susceptibility gene. (PMID: 18384059) KAohler A.K. … Andreassen O.A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008) 3 46 64
  5. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PMID: 16335952) Liu T. … Smith R.D. (J. Proteome Res. 2005) 3 4 64

Products for MDGA1 Gene

Sources for MDGA1 Gene

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