Gene/Proteome Database (LMPD)

LMPD ID
LMP001250
Gene ID
2531
Species
Homo sapiens (Human)
Gene Name
3-ketodihydrosphingosine reductase
Gene Symbol
KDSR
Synonyms
DHSR; FVT1; SDR35C1
Alternate Names
3-ketodihydrosphingosine reductase; FVT-1; KDS reductase; 3-dehydrosphinganine reductase; follicular variant translocation protein 1; follicular lymphoma variant translocation 1; short chain dehydrogenase/reductase family 35C, member 1
Chromosome
18
Map Location
18q21.3
EC Number
1.1.1.102
Summary
The 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]
Orthologs
View 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 REVIEWED
MLLLAAAFLVAFVLLLYMVSPLISPKPLALPGAHVVVTGGSSGIGKCIAIECYKQGAFITLVARNEDKLLQAKKEIEMHSINDKQVVLCISVDVSQDYNQVENVIKQAQEKLGPVDMLVNCAGMAVSGKFEDLEVSTFERLMSINYLGSVYPSRAVITTMKERRVGRIVFVSSQAGQLGLFGFTAYSASKFAIRGLAEALQMEVKPYNVYITVAYPPDTDTPGFAEENRTKPLETRLISETTSVCKPEQVAKQIVKDAIQGNFNSSLGSDGYMLSALTCGMAPVTSITEGLQQVVTMGLFRTIALFYLGSFDSIVRRCMMQREKSENADKTA
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: KPLALPGAHVVVTGGSSGIGKCIAIECYKQGAFITLVARNEDKLLQAKKEIEMHSINDKQVVLCISVDVSQDYNQVENVIKQAQEKLGPVDMLVNCAGMAVSGKFEDLEVSTFERLMSINYLGSVYPSRAVITTMKERRVGRIVFVSSQAGQLGLFGFTAYSASKFAIRGLAEALQMEVKPYNVYITVAYPPDTDTPGFAEENRTKPLETRLISETTSVCKPEQVAKQIVKDAIQGNFNSSLGSDGYMLSALTCGMAPVTSITEGLQQVVTMGLFRTIALFYLGSFDSIVRRCMMQREKSENADKTA

Gene Information

Entrez Gene ID
2531
Gene Name
3-ketodihydrosphingosine reductase
Gene Symbol
KDSR
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005783 IDA:MGI C endoplasmic reticulum
GO:0005789 TAS:Reactome C endoplasmic reticulum membrane
GO:0005615 TAS:ProtInc C extracellular space
GO:0016021 IEA:UniProtKB-KW C integral component of membrane
GO:0016020 IDA:UniProtKB C membrane
GO:0047560 IDA:MGI F 3-dehydrosphinganine reductase activity
GO:0006666 IDA:MGI P 3-keto-sphinganine metabolic process
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0030148 TAS:Reactome P sphingolipid biosynthetic process
GO:0006665 TAS:Reactome P sphingolipid metabolic process

BIOCYC Pathway Links

BIOCYC Pathway ID Description
PWY3DJ-12 ceramide biosynthesis

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_115810 Sphingolipid de novo biosynthesis

Domain Information

InterPro Annotations

Accession Description
IPR002347 Glucose/ribitol dehydrogenase
IPR016040 NAD(P)-binding domain
IPR002198 Short-chain dehydrogenase/reductase SDR
IPR020904 Short-chain dehydrogenase/reductase, conserved site

UniProt Annotations

Entry Information

Gene Name
3-ketodihydrosphingosine reductase
Protein Entry
KDSR_HUMAN
UniProt ID
Q06136
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q06136-1; Sequence=Displayed; Name=2; IsoId=Q06136-2; Sequence=VSP_056641; Note=No experimental confirmation available.;
Catalytic Activity Sphinganine + NADP(+) = 3-dehydrosphinganine + NADPH.
Disease Note=A chromosomal aberration involving KDSR is a cause of follicular lymphoma; also known as type II chronic lymphatic leukemia. Translocation t(2;18)(p11;q21) with a Ig J kappa chain region.
Function Catalyzes the reduction of 3-ketodihydrosphingosine (KDS) to dihydrosphingosine (DHS).
Pathway Lipid metabolism; sphingolipid metabolism.
Similarity Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Subcellular Location Endoplasmic reticulum membrane ; Multi-pass membrane protein .
Tissue Specificity Expressed in all tissues examined. Highest expression in placenta. High expression in lung, kidney, stomach and small intestine, low expression in heart, spleen and skeletal muscle. Weakly expressed in normal hematopoietic tissues. Higher expression in some T-cell malignancies and PHA-stimulated lymphocytes.

Identical and Related Proteins

Unique RefSeq proteins for LMP001250 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
4503817 RefSeq NP_002026 332 3-ketodihydrosphingosine reductase precursor

Identical Sequences to LMP001250 proteins

Reference Database Accession Length Protein Name
GI:4503817 GenBank JAA39395.1 332 3-ketodihydrosphingosine reductase [Pan troglodytes]
GI:4503817 GenBank JAA39396.1 332 3-ketodihydrosphingosine reductase [Pan troglodytes]
GI:4503817 GenBank JAA39397.1 332 3-ketodihydrosphingosine reductase [Pan troglodytes]
GI:4503817 GenBank AHD77869.1 332 Sequence 24496 from patent US 8586006
GI:4503817 GenBank AIC54410.1 332 KDSR, partial [synthetic construct]
GI:4503817 RefSeq XP_009250717.1 332 PREDICTED: 3-ketodihydrosphingosine reductase [Pongo abelii]

Related Sequences to LMP001250 proteins

Reference Database Accession Length Protein Name
GI:4503817 GenBank AAP36892.1 333 Homo sapiens follicular lymphoma variant translocation 1, partial [synthetic construct]
GI:4503817 GenBank AAX29236.1 333 follicular lymphoma variant translocation 1, partial [synthetic construct]
GI:4503817 GenBank AAX29237.1 333 follicular lymphoma variant translocation 1, partial [synthetic construct]
GI:4503817 GenBank ACM84550.1 360 Sequence 10048 from patent US 6812339
GI:4503817 RefSeq XP_008012056.1 332 PREDICTED: 3-ketodihydrosphingosine reductase isoform X1 [Chlorocebus sabaeus]
GI:4503817 RefSeq XP_010387105.1 332 PREDICTED: 3-ketodihydrosphingosine reductase [Rhinopithecus roxellana]