kdsr 3-ketodihydrosphingosine reductase [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: kdsrprovided by ZNC
Official Full Name: 3-ketodihydrosphingosine reductaseprovided by ZNC
Primary source: ZFIN:ZDB-GENE-040426-853
See related: Ensembl:ENSDARG00000012021 AllianceGenome:ZFIN:ZDB-GENE-040426-853
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: fvt1; zgc:55947; unm_muz106
Summary: Predicted to enable 3-dehydrosphinganine reductase activity and NADPH binding activity. Acts upstream of or within several processes, including intracellular sphingolipid homeostasis; platelet formation; and sphingomyelin biosynthetic process. Predicted to be located in endoplasmic reticulum. Predicted to be active in endoplasmic reticulum membrane. Used to study liver disease and thrombocytopenia. Human ortholog(s) of this gene implicated in erythrokeratodermia variabilis et progressiva 4 and follicular lymphoma. Orthologous to human KDSR (3-ketodihydrosphingosine reductase). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	2	NC_007113.7 (13224291..13254800, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	2	NC_007113.6 (13541505..13572014, complement)

Chromosome 2 - NC_007113.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

3-ketodihydrosphingosine reductase mutation induces steatosis and hepatic injury in zebrafish.
Title: 3-ketodihydrosphingosine reductase mutation induces steatosis and hepatic injury in zebrafish.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables 3-dehydrosphinganine reductase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 3-dehydrosphinganine reductase activity	IEA Inferred from Electronic Annotation more info
enables 3-dehydrosphinganine reductase activity	ISS Inferred from Sequence or Structural Similarity more info
enables NADPH binding	ISS Inferred from Sequence or Structural Similarity more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in 3-keto-sphinganine metabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within 3-keto-sphinganine metabolic process	IEA Inferred from Electronic Annotation more info
involved_in 3-keto-sphinganine metabolic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within intracellular sphingolipid homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within platelet formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sphingolipid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within sphingolipid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in sphingolipid biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within sphingolipid mediated signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within sphingolipid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within sphingomyelin biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: 3-dehydrosphinganine reductase

Names: follicular lymphoma variant translocation 1

NP_957433.2

EC 1.1.1.102

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_201139.2 → NP_957433.2 3-dehydrosphinganine reductase

Status: VALIDATED

Source sequence(s)

BX511000, EH548401

UniProtKB/Swiss-Prot

A0A8M1PE34, F1QNX0, F1QWW8

UniProtKB/TrEMBL

A0AAR9J7U1

Related

ENSDARP00000009670.8, ENSDART00000022621.11

Conserved Domains (2) summary

cd08939
Location:59 → 295

KDSR-like_SDR_c; 3-ketodihydrosphingosine reductase (KDSR) and related proteins, classical (c) SDR

pfam00106
Location:61 → 259

adh_short; short chain dehydrogenase