UniProt | Protein Name |
---|---|
Q8IU89 |
|
GO Term | Evidence Code | PMID |
---|---|---|
ceramide biosynthetic process | ||
keratinocyte differentiation | ||
epidermis development | ||
cornification | ||
sphingolipid biosynthetic process |
|
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum | ||
endoplasmic reticulum membrane |
|
GO Term | Evidence Code | PMID |
---|---|---|
DNA binding | ||
sphingosine N-acyltransferase activity | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0050428 | nonepidermolytic palmoplantar keratoderma | |
DOID:0050475 | Weill-Marchesani syndrome | |
DOID:0060655 | autosomal recessive congenital ichthyosis | |
DOID:0060656 | autosomal recessive congenital ichthyosis 1 | |
DOID:0060710 | autosomal recessive congenital ichthyosis 2 | |
DOID:0060711 | autosomal recessive congenital ichthyosis 3 | |
DOID:0060712 | autosomal recessive congenital ichthyosis 4A | |
DOID:0060714 | autosomal recessive congenital ichthyosis 5 | |
DOID:0060715 | autosomal recessive congenital ichthyosis 6 | |
DOID:0060716 | autosomal recessive congenital ichthyosis 7 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000365 | Hearing impairment |
HP:0000491 | Keratitis |
HP:0000656 | Ectropion |
HP:0000962 | Hyperkeratosis |
HP:0000966 | Hypohidrosis |
HP:0000982 | Palmoplantar keratoderma |
HP:0000989 | Pruritus |
HP:0001019 | Erythroderma |
HP:0001508 | Failure to thrive |
Disease ID | Disease Name |
---|---|
OMIM:615023 |
|
ORPHA:79394 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
180743 | WB:WBGene00002044 | ||
50392 | FB:FBgn0040918 | ||
100141367 | ZFIN:ZDB-GENE-080220-32 | ||
100332380 | ZFIN:ZDB-GENE-130320-1 | ||
379135 | Xenbase:XB-GENE-6251639 | ||
444162 | Xenbase:XB-GENE-957273 | ||
448139 | Xenbase:XB-GENE-957267 | ||
101947682 | CHRPI05794 | ||
103816094 | SERCA10473 | ||
100090484 | ORNAN22879 |
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