UniProt | Protein Name |
---|---|
O00400 |
|
GO Term | Evidence Code | PMID |
---|---|---|
transmembrane transport |
|
|
acetyl-CoA transmembrane transport |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum membrane | ||
plasma membrane |
|
|
membrane | ||
Golgi membrane |
|
GO Term | Evidence Code | PMID |
---|---|---|
protein homodimerization activity | ||
acetyl-CoA transmembrane transporter activity | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0050662 | bestrophinopathy | |
DOID:0050700 | cardiomyopathy | |
DOID:0050757 | deafness-dystonia-optic neuronopathy syndrome | |
DOID:0050848 | obstructive sleep apnea | |
DOID:0050886 | Troyer syndrome | |
DOID:0060041 | autism spectrum disorder | |
DOID:0060180 | colitis | |
DOID:0060189 | ileitis | |
DOID:0060190 | ileocolitis | |
DOID:0060193 | amyotrophic lateral sclerosis type 1 |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000007 | Autosomal recessive inheritance |
HP:0000365 | Hearing impairment |
HP:0000519 | Developmental cataract |
HP:0000639 | Nystagmus |
HP:0001250 | Seizure |
HP:0001252 | Hypotonia |
HP:0001258 | Spastic paraplegia |
HP:0001272 | Cerebellar atrophy |
HP:0001324 | Muscle weakness |
Disease ID | Disease Name |
---|---|
OMIM:614482 |
|
OMIM:612539 |
|
ORPHA:171863 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
259455 | WB:WBGene00012033 | ||
39876 | FB:FBgn0036662 | ||
100181010 | CIOIN10390 | ||
103175692 | CALMI00032 | ||
102354281 | LATCH19439 | ||
394083 | ZFIN:ZDB-GENE-040426-1241 | DANRE14687 | |
103040971 | ASTMX14661 | ||
108264671 | ICTPU28819 | ||
113589428 | ELEEL42988 | ||
106581457 | SALSA98924 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024