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3-ketodihydrosphingosine reductase

Summary

Gene Symbol

KDSR

Aliases

3-dehydrosphinganine reductase
DHSR
SDR35C1
short chain dehydrogenase/reductase family 35C, member 1

Organism

Homo sapiens (human)

External Links

NCBI Gene

2531

HGNC

4021

KEGG Gene ID

hsa:2531

PubChem

2531

Alliance of Genome Resources

HGNC:4021

Annotation

Keyword

Alternative splicing
Chromosomal rearrangement
Disease variant
Endoplasmic reticulum
NADP
Nucleotide-binding
Oxidoreductase
Palmoplantar keratoderma
Proto-oncogene
Reference proteome
Signal
Sphingolipid metabolism
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
Q06136	3-dehydrosphinganine reductase Follicular variant translocation protein 1 Short chain dehydrogenase/reductase family 35C member 1

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 2** entries
GO Term	Evidence Code	PMID
3-keto-sphinganine metabolic process	IBA IDA IMP	15364918 19141869
sphingolipid biosynthetic process	IBA IMP ISS TAS	19141869

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

sphingolipid metabolic process [inference]

sphingolipid biosynthetic process

sphingoid metabolic process [inference]

3-keto-sphinganine metabolic process

organonitrogen compound biosynthetic process [inference]

sphingolipid biosynthetic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

organonitrogen compound biosynthetic process [inference]

sphingolipid biosynthetic process

cellular metabolic process [inference]

cellular ketone metabolic process [inference]

3-keto-sphinganine metabolic process

cellular biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

sphingolipid metabolic process [inference]

sphingolipid biosynthetic process

sphingoid metabolic process [inference]

3-keto-sphinganine metabolic process

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

lipid biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

sphingolipid metabolic process [inference]

sphingolipid biosynthetic process

sphingoid metabolic process [inference]

3-keto-sphinganine metabolic process

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

small molecule metabolic process [inference]

cellular ketone metabolic process [inference]

3-keto-sphinganine metabolic process

organic substance metabolic process [inference]

lipid metabolic process [inference]

lipid biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

sphingolipid metabolic process [inference]

sphingolipid biosynthetic process

sphingoid metabolic process [inference]

3-keto-sphinganine metabolic process

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

cellular ketone metabolic process [inference]

3-keto-sphinganine metabolic process

organonitrogen compound metabolic process [inference]

sphingolipid metabolic process [inference]

sphingolipid biosynthetic process

sphingoid metabolic process [inference]

3-keto-sphinganine metabolic process

organonitrogen compound biosynthetic process [inference]

sphingolipid biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

organonitrogen compound biosynthetic process [inference]

sphingolipid biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

cellular ketone metabolic process [inference]

3-keto-sphinganine metabolic process

cellular biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

sphingolipid metabolic process [inference]

sphingolipid biosynthetic process

sphingoid metabolic process [inference]

3-keto-sphinganine metabolic process

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

Displaying **all 4** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum	IDA	15364918
endoplasmic reticulum membrane	IBA TAS
extracellular space		8417785
membrane	HDA	19946888

GO Hierarchy

cellular component

cellular anatomical entity [inference]

extracellular space

organelle membrane [inference]

endoplasmic reticulum membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

Displaying **all 3** entries
GO Term	Evidence Code	PMID
NADPH binding	ISS
3-dehydrosphinganine reductase activity	IBA IDA IMP TAS	15364918 19141869 28575652
protein binding	IPI	32814053

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity [inference]

oxidoreductase activity, acting on CH-OH group of donors [inference]

oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor [inference]

3-dehydrosphinganine reductase activity

binding [inference]

protein binding

small molecule binding [inference]

heterocyclic compound binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

NADP binding [inference]

NADPH binding

ion binding [inference]

anion binding [inference]

NADPH binding

organic cyclic compound binding [inference]

nucleoside phosphate binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

NADP binding [inference]

NADPH binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000119537

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K04708

Name

3-dehydrosphinganine reductase [EC:1.1.1.102]

References

15328338

Rhea

sphinganine + NADP⁺

H⁺ + NADPH + 3-oxosphinganine

Enzyme

1.1.1.102

PMID

Disease

Disease Ontology

Displaying entries **21 - 30** of 50 in total

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DO ID	Disease Name	Source
DOID:3159	photosensitivity disease	DisGeNET
DOID:3165	skin benign neoplasm	DisGeNET
DOID:318	progressive muscular atrophy	DisGeNET
DOID:3390	palmoplantar keratosis	DisGeNET DisGeNET
DOID:37	skin disease	DisGeNET
DOID:3777	granuloma annulare	DisGeNET
DOID:409	liver disease	Alliance of Genome Resources
DOID:4159	skin cancer	DisGeNET
DOID:4450	renal cell carcinoma	DisGeNET
DOID:4451	renal carcinoma	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 35 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000035	Abnormal testis morphology
HP:0000252	Microcephaly
HP:0000365	Hearing impairment
HP:0000411	Protruding ear
HP:0000501	Glaucoma
HP:0000518	Cataract
HP:0000819	Diabetes mellitus
HP:0000958	Dry skin
HP:0000962	Hyperkeratosis

Displaying **all 3** entries
Disease ID	Disease Name
ORPHA:317	erythrokeratodermia variabilis
ORPHA:316	erythrokeratodermia variabilis
OMIM:617526	erythrokeratodermia variabilis et progressiva 4

PubChem Disease

MedGen Diseases

Erythrokeratodermia variabilis et progressiva 4

OMIM Phenotypes

ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4; EKVP4

KEGG Diseases

Erythrokeratodermia variabilis

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP001250
Gene Name: 3-ketodihydrosphingosine reductase

Ortholog

Displaying entries **1 - 10** of 79 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	36805052	WB:WBGene00021367
Drosophila melanogaster	43043	FB:FBgn0039304
Ciona intestinalis	100178248		CIOIN05585
Callorhinchus milii	103183185		CALMI26739
Danio rerio	394114	ZFIN:ZDB-GENE-040426-853	DANRE28817
Astyanax mexicanus	103042591		ASTMX13102
Electrophorus electricus	113570064		ELEEL09021
Salmo salar	106569188		SALSA35191
Salmo trutta	115157109		SALTR63560
Salmo trutta	115169667		SALTR41027

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Last updated: August 19, 2024