UniProt | Protein Name |
---|---|
B3KSP2 |
|
P51659 |
|
B2R659 |
|
A0A0S2Z4J1 |
|
GO Term | Evidence Code | PMID |
---|---|---|
Sertoli cell development | ||
osteoblast differentiation | ||
very long-chain fatty acid metabolic process | ||
fatty acid beta-oxidation | ||
medium-chain fatty-acyl-CoA metabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
cytosol |
|
|
membrane | ||
peroxisome | ||
peroxisomal membrane | ||
peroxisomal matrix |
|
GO Term | Evidence Code | PMID |
---|---|---|
3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity | ||
3-hydroxyacyl-CoA dehydratase activity | ||
17-beta-hydroxysteroid dehydrogenase (NAD+) activity | ||
protein homodimerization activity | ||
estradiol 17-beta-dehydrogenase [NAD(P)] activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0050444 | infantile Refsum disease | |
DOID:0050562 | West syndrome | |
DOID:0050753 | cerebellar ataxia | |
DOID:0050857 | Perrault syndrome | |
DOID:0050951 | hereditary ataxia | |
DOID:0060249 | scoliosis | |
DOID:0060602 | alpha-methylacyl-CoA racemase deficiency | |
DOID:0080199 | colorectal carcinoma | |
DOID:0080348 | Alzheimer's disease 1 | |
DOID:0080476 | peroxisome biogenesis disorder 1A |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000107 | Renal cyst |
HP:0000133 | Gonadal dysgenesis |
HP:0000218 | High palate |
HP:0000239 | Large fontanelles |
HP:0000256 | Macrocephaly |
HP:0000268 | Dolichocephaly |
HP:0000270 | Delayed cranial suture closure |
HP:0000278 | Retrognathia |
HP:0000286 | Epicanthus |
Disease ID | Disease Name |
---|---|
OMIM:261515 |
|
OMIM:233400 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
174181 | WB:WBGene00017123 | ||
180950 | WB:WBGene00000991 | ||
32582 | FB:FBgn0030731 | ||
100187421 | CIOIN13368 | ||
103181119 | CALMI21985 | ||
102356548 | LATCH02922 | ||
393105 | ZFIN:ZDB-GENE-040421-1 | DANRE43883 | |
108265438 | ICTPU29751 | ||
113571049 | ELEEL07837 | ||
106585849 | SALSA110209 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: August 19, 2024