MDGA1 - MAM domain containing glycosylphosphatidylinositol anchor 1 Gene

Also Known as GPIM; MAMDC3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 266727

About MDGA1

Cytogenetic location: 6p21.2 Genomic coordinates (GRCh38): 6:37,630,679-37,697,883 (from NCBI)

This gene has 13 transcripts (splice variants), 201 orthologues and 4 paralogues. Broad expression in brain (RPKM 2.6), ovary (RPKM 2.3) and 21 other tissues.

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]

MDGA1 Products (1)

mRNA Protein Name
NM_153487.4 NP_705691.1 MAM domain-containing glycosylphosphatidylinositol anchor protein 1 preproprotein
Biological Process GO Annotation Evidence References Source
involved in regulation of presynapse assembly IDA
IDA: Inferred from direct assay
28641112 GOA
involved in regulation of presynapse assembly IMP
IMP: Inferred from mutant phenotype
28641112 GOA
involved in regulation of synaptic membrane adhesion IDA
IDA: Inferred from direct assay
28641112 GOA
involved in regulation of synaptic membrane adhesion IMP
IMP: Inferred from mutant phenotype
28641112 GOA
Cellular Component GO Annotation Evidence References Source
is active in GABA-ergic synapse IDA
IDA: Inferred from direct assay
28641112 GOA
is active in GABA-ergic synapse IMP
IMP: Inferred from mutant phenotype
28641112 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
15922729 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MDGA1 Protein Structure

I-set

I-set: Immunoglobulin I-set domain (48 - 115)

Ig_2

Ig_2: Immunoglobulin domain (147 - 220)

Ig_2

Ig_2: Immunoglobulin domain (243 - 326)

I-set

I-set: Immunoglobulin I-set domain (345 - 418)

I-set

I-set: Immunoglobulin I-set domain (450 - 517)

I-set

I-set: Immunoglobulin I-set domain (540 - 630)

MAM

MAM: MAM domain, meprin/A5/mu (753 - 917)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 955 a.a.
Protein Preferred Names Protein Names

MAM domain-containing glycosylphosphatidylinositol anchor protein 1

  • GPI and MAM protein

Related Diseases

Diseases Alias
Osgood-Schlatter'S Disease
  • Osgood-Schlatter Disease

  • Juvenile Osteochondrosis Of Tibial Tubercle

  • Osteochondrosis

  • Osteochondritis Of Tibial Tubercle

  • Osteochondrosis Of Proximal Tibia

  • Aseptic Necrosis Of The Tibial Tubercle

  • Osteochondrosis Of The Tibial Tubercle

  • Osteochondritis Juvenilis

Bipolar Disorder
  • Bipolar Depression

  • Manic Disorder

  • Depression, Bipolar

  • Bipolar Disorder Manic Phase

  • Depressive-Manic Psych.

  • Manic Bipolar Affective Disorder

  • Manic Bipolar I Disorder

  • Manic Depression

  • Manic Depressive Disorder

  • Mixed Bipolar Disorder

  • Bipolar Affective Disorder

  • Bipolar Affective Psychosis

  • Bipolar Spectrum Disorder

  • Manic Depressive Illness

  • Depression Bipolar

  • Bipolar Disorder, Mixed

  • Major Affective Disorder

  • Major Affective Disorder 1

  • Major Affective Disorder 2

Schizophrenia
  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus MDGA1 MGD MGI:1922012
Macaca mulatta MDGA1 VGNC VGNC:74535
Felis catus MDGA1 VGNC VGNC:63425
Bos taurus MDGA1 VGNC VGNC:31331
Rattus norvegicus MDGA1 RGD RGD:1307031
Canis familiaris MDGA1 VGNC VGNC:43101