MDGA1 - MAM domain containing glycosylphosphatidylinositol anchor 1 Gene
Also Known as GPIM; MAMDC3
Species: Homo sapiens
About MDGA1
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 |
MDGA1 Protein Structure
I-set: Immunoglobulin I-set domain (48 - 115)
Ig_2: Immunoglobulin domain (147 - 220)
Ig_2: Immunoglobulin domain (243 - 326)
I-set: Immunoglobulin I-set domain (345 - 418)
I-set: Immunoglobulin I-set domain (450 - 517)
I-set: Immunoglobulin I-set domain (540 - 630)
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 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Osgood-Schlatter'S Disease |
|
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| Bipolar Disorder |
|
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| Schizophrenia |
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