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MGP001116

Record overview

MGPD IDMGP001116
Gene ID2531
SpeciesHomo sapiens (Human)
Gene Name3-ketodihydrosphingosine reductase
Gene Symbol KDSR
SynonymsDHSR; FVT1; SDR35C1;
Alternate names3-ketodihydrosphingosine reductase; 3-dehydrosphinganine reductase; FVT-1; KDS reductase; follicular lymphoma variant translocation 1; follicular variant translocation protein 1; short chain dehydrogenase/reductase family 35C, member 1;
Chromosome18
Map Location18q21.3
EC Number1.1.1.102
SummaryThe protein encoded by this gene catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine. The putative active site residues of the encoded protein are found on the cytosolic side of the endoplasmic reticulum membrane. A chromosomal rearrangement involving this gene is a cause of follicular lymphoma, also known as type II chronic lymphatic leukemia. The mutation of a conserved residue in the bovine ortholog causes spinal muscular atrophy. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for KDSR

Proteins

3-ketodihydrosphingosine reductase precursor
Refseq ID:NP_002026
Protein GI:4503817
UniProt ID:Q06136
mRNA ID:NM_002035
Length:332
RefSeq Status:
MLLLAAAFLVAFVLLLYMVSPLISPKPLALPGAHVVVTGGSSGIGKCIAIECYKQGAFITLVARNEDKLLQAKKEIEMHSINDKQVVLCISVDVSQDYNQ
VENVIKQAQEKLGPVDMLVNCAGMAVSGKFEDLEVSTFERLMSINYLGSVYPSRAVITTMKERRVGRIVFVSSQAGQLGLFGFTAYSASKFAIRGLAEAL
QMEVKPYNVYITVAYPPDTDTPGFAEENRTKPLETRLISETTSVCKPEQVAKQIVKDAIQGNFNSSLGSDGYMLSALTCGMAPVTSITEGLQQVVTMGLF
RTIALFYLGSFDSIVRRCMMQREKSENADKTA
 
sig_peptide: 1..25
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 2706
peptide sequence: 
MLLLAAAFLVAFVLLLYMVSPLISP

mat_peptide: 26..332
product: 3-ketodihydrosphingosine reductase
calculated_mol_wt: 33499
peptide sequence: 
KPLALPGAHVVVTGGSSGIGKCIAIECYKQGAFITLVARNEDKLLQAKKEIEMHSINDKQVVLCISVDVSQDYNQVENVIKQAQEKLGPVDMLVNCAGMA
VSGKFEDLEVSTFERLMSINYLGSVYPSRAVITTMKERRVGRIVFVSSQAGQLGLFGFTAYSASKFAIRGLAEALQMEVKPYNVYITVAYPPDTDTPGFA
EENRTKPLETRLISETTSVCKPEQVAKQIVKDAIQGNFNSSLGSDGYMLSALTCGMAPVTSITEGLQQVVTMGLFRTIALFYLGSFDSIVRRCMMQREKS
ENADKTA
 
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