Gene Gene information from NCBI Gene database.
Entrez ID 266727
Gene name MAM domain containing glycosylphosphatidylinositol anchor 1
Gene symbol MDGA1
Synonyms (NCBI Gene)
GPIMMAMDC3
Chromosome 6
Chromosome location 6p21.2
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 I
miRNA miRNA information provided by mirtarbase database.
287
miRTarBase ID miRNA Experiments Reference
MIRT003161 hsa-miR-210-3p immunoprecipitaionMicroarrayqRT-PCR 19826008
MIRT677340 hsa-miR-8485 HITS-CLIP 23313552
MIRT623286 hsa-miR-6793-3p HITS-CLIP 23313552
MIRT687569 hsa-miR-1913 HITS-CLIP 23313552
MIRT687568 hsa-miR-324-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0001764 Process Neuron migration IEA
GO:0001764 Process Neuron migration ISS
GO:0005576 Component Extracellular region TAS
GO:0005615 Component Extracellular space HDA 22664934
GO:0005794 Component Golgi apparatus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609626 19267 ENSG00000112139
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NFP4
Protein name MAM domain-containing glycosylphosphatidylinositol anchor protein 1 (GPI and MAM protein) (GPIM) (Glycosylphosphatidylinositol-MAM) (MAM domain-containing protein 3)
Protein 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. {ECO:0000250, ECO
PDB 5V5V , 5V5W , 5XEQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13927 Ig_3 40 112 Domain
PF13927 Ig_3 131 217 Domain
PF13927 Ig_3 239 312 Domain
PF13927 Ig_3 335 418 Domain
PF13927 Ig_3 439 517 Domain
PF13927 Ig_3 538 619 Domain
PF00629 MAM 753 917 MAM domain, meprin/A5/mu Domain
Tissue specificity TISSUE SPECIFICITY: Has been found in brain, heart, skeletal muscle and kidney. Found to be overexpressed in tumor tissues.
Sequence
MEVTCLLLLALIPFHCRGQGVYAPAQAQIVHAGQACVVKEDNISERVYTIREGDTLMLQC
LVTGHPRPQVRWTKTAGSASDKFQETSVFNETLRIERIARTQGGRYYCKAEN
GVGVPAIK
SIRVDVQYLDEPMLTVHQTVSDVRGNFYQEKTVFLRCTVNSNPPARFIWKRGSDTLSHSQ
DNGVDIYEPLYTQGETKVLKLKNLRPQDYASYTCQVS
VRNVCGIPDKAITFRLTNTTAPP
ALKLSVNETLVVNPGENVTVQCLLTGGDPLPQLQWSHGPGPLPLGALAQGGTLSIPSVQA
RDSGYYNCTATN
NVGNPAKKTVNLLVRSMKNATFQITPDVIKESENIQLGQDLKLSCHVD
AVPQEKVTYQWFKNGKPARMSKRLLVTRNDPELPAVTSSLELIDLHFSDYGTYLCMAS
FP
GAPVPDLSVEVNISSETVPPTISVPKGRAVVTVREGSPAELQCEVRGKPRPPVLWSRVDK
EAALLPSGLPLEETPDGKLRLERVSRDMSGTYRCQTA
RYNGFNVRPREAQVQLNVQFPPE
VEPSSQDVRQALGRPVLLRCSLLRGSPQRIASAVWRFKGQLLPPPPVVPAAAEAPDHAEL
RLDAVTRDSSGSYECSVSN
DVGSAACLFQVSAKAYSPEFYFDTPNPTRSHKLSKNYSYVL
QWTQREPDAVDPVLNYRLSIRQLNQHNAVVKAIPVRRVEKGQLLEYILTDLRVPHSYEVR
LTPYTTFGAGDMASRIIHYTEPINSPNLSDNTCHFEDEKICGYTQDLTDNFDWTRQNALT
QNPKRSPNTGPPTDISGTPEGYYMFIETSRPRELGDRARLVSPLYNASAKFYCVSFFYHM
YGKHIGSLNLLVRSRNKGALDTHAWSLSGNKGNVWQQAHVPISPSGPFQIIFEGVRGPGY
LGDIAIDDVTLKKGECP
RKQTDPNKVVVMPGSGAPCQSSPQLWGPMAIFLLALQR
Sequence length 955
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Post-translational modification: synthesis of GPI-anchored proteins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute megakaryoblastic leukemia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONOTRUNCAL HEART MALFORMATIONS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ANEURYSM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Bipolar Disorder Bipolar Disorder BEFREE 21146959, 31812551
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder PSYGENET_DG 21146959
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Coronary Aneurysm Coronary Aneurysm GWASCAT_DG 27171184
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder Mental Depression BEFREE 21146959
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Mucocutaneous Lymph Node Syndrome Kawasaki disease GWASCAT_DG 27171184
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 12082541
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia BEFREE 18384059, 21146959, 31812551
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Schizophrenia Schizophrenia PSYGENET_DG 18384059, 21146959
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Unipolar Depression Mental Depression BEFREE 21146959
★☆☆☆☆
Found in Text Mining only