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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 entries **1 - 5** of 7 in total

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

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

GO Hierarchy

cellular component

cellular anatomical entity [inference]

extracellular space

membrane

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 entry **6 - 6** of 6 in total

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GO Term	Evidence Code	PMID
NADPH binding	ISS

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.

OrthoDB (Group)

Group level

Eukaryota

Group Name

dehydrogenase

Functional Category

G: Carbohydrate transport and metabolism
M: Cell wall/membrane/envelope biogenesis
T: Signal transduction mechanisms

Displaying 1 entry
Gene Ontology
oxidoreductase activity

Displaying **all 2** entries
InterPro
NAD(P)-binding domain superfamily
Short-chain dehydrogenase/reductase SDR

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

RHEA:22640

sphinganine + NADP⁺

H⁺ + NADPH + 3-oxosphinganine

Enzyme

1.1.1.102

PMID

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0050873	follicular lymphoma	Alliance of Genome Resources
DOID:0080250	erythrokeratodermia variabilis et progressiva 4	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **11 - 20** of 35 in total

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HPO ID	HPO Term
HP:0000972	Palmoplantar hyperkeratosis
HP:0000982	Palmoplantar keratoderma
HP:0000988	Skin rash
HP:0000992	Cutaneous photosensitivity
HP:0001034	Hypermelanotic macule
HP:0001156	Brachydactyly
HP:0001182	Tapered finger
HP:0001249	Intellectual disability
HP:0001595	Abnormal hair morphology
HP:0001596	Alopecia

Displaying **all 3** entries
Disease ID	Disease Name
ORPHA:316	erythrokeratodermia variabilis
ORPHA:317	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 75 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus tropicalis	2531	Xenbase:XB-GENE-985089
Mus musculus	70750		MOUSE30254
Rattus norvegicus	360833		RATNO07181
Danio rerio	394114		DANRE28817
Bos taurus	505558		BOVIN19871
Macaca mulatta	700476		MACMU17607
Pan troglodytes	738461		PANTR16421
Monodelphis domestica	100016602		MONDO16159
Sus scrofa	100049703		PIGXX14866
Equus caballus	100057259		HORSE41350

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements