UniProt | Protein Name |
---|---|
Q14032 |
|
GO Term | Evidence Code | PMID |
---|---|---|
bile acid conjugation | ||
bile acid biosynthetic process | ||
bile acid metabolic process |
|
|
liver development |
GO Term | Evidence Code | PMID |
---|---|---|
intracellular membrane-bounded organelle | ||
cytosol | ||
peroxisome | ||
peroxisomal matrix |
|
GO Term | Evidence Code | PMID |
---|---|---|
acyl-CoA hydrolase activity | ||
N-acyltransferase activity | ||
glycine N-choloyltransferase activity | ||
acyltransferase activity |
|
|
protein binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:0060609 | microcephalic osteodysplastic primordial dwarfism type II | |
DOID:0060644 | chondrodysplasia-pseudohermaphroditism syndrome | |
DOID:0060764 | autosomal recessive Robinow syndrome | |
DOID:0060765 | autosomal dominant Robinow syndrome 2 | |
DOID:0060766 | autosomal dominant Robinow syndrome 1 | |
DOID:0060767 | autosomal dominant Robinow syndrome 3 | |
DOID:0080199 | colorectal carcinoma | |
DOID:0080301 | atypical hemolytic-uremic syndrome | |
DOID:0080409 | familial adenomatous polyposis 1 | |
DOID:0110334 | osteogenesis imperfecta type 1 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000952 | Jaundice |
HP:0001399 | Hepatic failure |
HP:0002240 | Hepatomegaly |
HP:0002748 | Rickets |
HP:0002908 | Conjugated hyperbilirubinemia |
HP:0003593 | Infantile onset |
HP:0003621 | Juvenile onset |
HP:0011463 | Childhood onset |
Disease ID | Disease Name |
---|---|
OMIM:619232 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
29725 | RGD:2190 | RATNO34339 | |
100719973 | CAVPO12781 | ||
101572569 | OCTDE15570 | ||
101716142 | HETGA27672 | ||
100023136 | MONDO28490 | ||
103678524 | URSMA15721 | ||
100957390 | OTOGA15713 | ||
102009387 | CHILA06646 | ||
102009722 | CHILA06646 | ||
105727329 | AOTNA33898 |
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Last updated: August 19, 2024