UniProt | Protein Name |
---|---|
Q9UBM7 |
|
A0A024R5F7 |
|
GO Term | Evidence Code | PMID |
---|---|---|
cholesterol biosynthetic process | ||
brassinosteroid biosynthetic process | ||
cholesterol biosynthetic process via lathosterol |
|
|
cholesterol biosynthetic process via desmosterol |
|
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum | ||
endoplasmic reticulum membrane | ||
nuclear outer membrane | ||
membrane |
GO Term | Evidence Code | PMID |
---|---|---|
7-dehydrocholesterol reductase activity | ||
protein binding | ||
NADP binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0050429 | Hailey-Hailey disease | |
DOID:0050454 | periventricular nodular heterotopia | |
DOID:0050571 | congenital disorder of glycosylation type II | |
DOID:0050651 | atrioventricular septal defect | |
DOID:0050778 | Meckel syndrome | |
DOID:0060041 | autism spectrum disorder | |
DOID:0060249 | scoliosis | |
DOID:0060281 | photosensitive epilepsy | |
DOID:0060330 | Rapp-Hodgkin syndrome | |
DOID:0060336 | 3-methylglutaconic aciduria |
HPO ID | HPO Term |
---|---|
HP:0000003 | Multicystic kidney dysplasia |
HP:0000007 | Autosomal recessive inheritance |
HP:0000028 | Cryptorchidism |
HP:0000046 | Small scrotum |
HP:0000047 | Hypospadias |
HP:0000048 | Bifid scrotum |
HP:0000054 | Micropenis |
HP:0000062 | Ambiguous genitalia |
HP:0000074 | Ureteropelvic junction obstruction |
HP:0000081 | Duplicated collecting system |
Disease ID | Disease Name |
---|---|
OMIM:270400 |
|
ORPHA:818 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
181886 | WB:WBGene00007126 | ||
37482 | FB:FBgn0034657 | ||
103175009 | CALMI06801 | ||
102362669 | LATCH13480 | ||
378446 | ZFIN:ZDB-GENE-030912-9 | ||
103033332 | ASTMX08984 | ||
108271323 | ICTPU00989 | ||
113578447 | ELEEL02260 | ||
106587139 | SALSA113312 | ||
115167486 | SALTR81497 |
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