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Protein

3-ketodihydrosphingosine reductase

Gene

KDSR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalyzes the reduction of 3-ketodihydrosphingosine (KDS) to dihydrosphingosine (DHS).

Catalytic activityi

Sphinganine + NADP+ = 3-dehydrosphinganine + NADPH.1 Publication

Pathwayi: sphingolipid metabolism

This protein is involved in the pathway sphingolipid metabolism, which is part of Lipid metabolism.
View all proteins of this organism that are known to be involved in the pathway sphingolipid metabolism and in Lipid metabolism.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei173 – 1731SubstrateBy similarity
Active sitei186 – 1861Proton acceptorPROSITE-ProRule annotation
Active sitei190 – 1901Curated

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi36 – 6025NADPCuratedAdd
BLAST

GO - Molecular functioni

  • 3-dehydrosphinganine reductase activity Source: MGI

GO - Biological processi

  • 3-keto-sphinganine metabolic process Source: MGI
  • sphingolipid biosynthetic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Lipid metabolism, Sphingolipid metabolism

Keywords - Ligandi

NADP

Enzyme and pathway databases

BioCyciMetaCyc:HS04306-MONOMER.
BRENDAi1.1.1.102. 2681.
ReactomeiR-HSA-1660661. Sphingolipid de novo biosynthesis.
UniPathwayiUPA00222.

Chemistry

SwissLipidsiSLP:000000155.

Names & Taxonomyi

Protein namesi
Recommended name:
3-ketodihydrosphingosine reductase (EC:1.1.1.102)
Short name:
KDS reductase
Alternative name(s):
3-dehydrosphinganine reductase
Follicular variant translocation protein 1
Short name:
FVT-1
Short chain dehydrogenase/reductase family 35C member 1
Gene namesi
Name:KDSR
Synonyms:FVT1, SDR35C1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:4021. KDSR.

Subcellular locationi

  • Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini26 – 270245CytoplasmicSequence analysisAdd
BLAST
Transmembranei271 – 29121HelicalSequence analysisAdd
BLAST
Topological domaini292 – 2932LumenalSequence analysis
Transmembranei294 – 31421HelicalSequence analysisAdd
BLAST
Topological domaini315 – 33218CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

  • endoplasmic reticulum Source: MGI
  • endoplasmic reticulum membrane Source: Reactome
  • extracellular space Source: ProtInc
  • integral component of membrane Source: UniProtKB-KW
  • membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

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 (PubMed:8417785).

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

PharmGKBiPA162392777.

Polymorphism and mutation databases

BioMutaiKDSR.
DMDMi544358.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2525Sequence analysisAdd
BLAST
Chaini26 – 3323073-ketodihydrosphingosine reductasePRO_0000031982Add
BLAST

Proteomic databases

EPDiQ06136.
MaxQBiQ06136.
PaxDbiQ06136.
PRIDEiQ06136.

PTM databases

iPTMnetiQ06136.
PhosphoSiteiQ06136.
SwissPalmiQ06136.

Expressioni

Tissue specificityi

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.

Gene expression databases

BgeeiQ06136.
CleanExiHS_KDSR.
ExpressionAtlasiQ06136. baseline and differential.
GenevisibleiQ06136. HS.

Organism-specific databases

HPAiCAB003673.
HPA044884.

Interactioni

Protein-protein interaction databases

BioGridi108807. 21 interactions.
IntActiQ06136. 2 interactions.
MINTiMINT-3025841.
STRINGi9606.ENSP00000385083.

Structurei

3D structure databases

ProteinModelPortaliQ06136.
SMRiQ06136. Positions 28-277.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1210. Eukaryota.
ENOG410YF8M. LUCA.
GeneTreeiENSGT00840000129712.
HOVERGENiHBG005757.
InParanoidiQ06136.
KOiK04708.
OMAiGSMETEE.
OrthoDBiEOG744T98.
PhylomeDBiQ06136.
TreeFamiTF105430.

Family and domain databases

Gene3Di3.40.50.720. 1 hit.
InterProiIPR016040. NAD(P)-bd_dom.
IPR020904. Sc_DH/Rdtase_CS.
IPR002347. SDR_fam.
[Graphical view]
PfamiPF00106. adh_short. 1 hit.
[Graphical view]
PRINTSiPR00081. GDHRDH.
PR00080. SDRFAMILY.
SUPFAMiSSF51735. SSF51735. 1 hit.
PROSITEiPS00061. ADH_SHORT. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q06136-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLLLAAAFLV AFVLLLYMVS PLISPKPLAL PGAHVVVTGG SSGIGKCIAI
60 70 80 90 100
ECYKQGAFIT LVARNEDKLL QAKKEIEMHS INDKQVVLCI SVDVSQDYNQ
110 120 130 140 150
VENVIKQAQE KLGPVDMLVN CAGMAVSGKF EDLEVSTFER LMSINYLGSV
160 170 180 190 200
YPSRAVITTM KERRVGRIVF VSSQAGQLGL FGFTAYSASK FAIRGLAEAL
210 220 230 240 250
QMEVKPYNVY ITVAYPPDTD TPGFAEENRT KPLETRLISE TTSVCKPEQV
260 270 280 290 300
AKQIVKDAIQ GNFNSSLGSD GYMLSALTCG MAPVTSITEG LQQVVTMGLF
310 320 330
RTIALFYLGS FDSIVRRCMM QREKSENADK TA
Length:332
Mass (Da):36,187
Last modified:June 1, 1994 - v1
Checksum:iCB4BA5D020858F0C
GO
Isoform 2 (identifier: Q06136-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     139-202: Missing.

Note: No experimental confirmation available.
Show »
Length:268
Mass (Da):29,159
Checksum:iEBEF59FDB6563735
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei139 – 20264Missing in isoform 2. 1 PublicationVSP_056641Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X63657 mRNA. Translation: CAA45197.1.
BT006782 mRNA. Translation: AAP35428.1.
AK297670 mRNA. Translation: BAG60032.1.
AK312360 mRNA. Translation: BAG35278.1.
AC021803 Genomic DNA. No translation available.
AC036176 Genomic DNA. No translation available.
CH471096 Genomic DNA. Translation: EAW63140.1.
BC008797 mRNA. Translation: AAH08797.1.
CCDSiCCDS11982.1. [Q06136-1]
PIRiS37652.
RefSeqiNP_002026.1. NM_002035.2. [Q06136-1]
UniGeneiHs.74050.

Genome annotation databases

EnsembliENST00000326575; ENSP00000312939; ENSG00000119537. [Q06136-2]
ENST00000406396; ENSP00000385083; ENSG00000119537. [Q06136-1]
GeneIDi2531.
KEGGihsa:2531.
UCSCiuc010dpw.4. human. [Q06136-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X63657 mRNA. Translation: CAA45197.1.
BT006782 mRNA. Translation: AAP35428.1.
AK297670 mRNA. Translation: BAG60032.1.
AK312360 mRNA. Translation: BAG35278.1.
AC021803 Genomic DNA. No translation available.
AC036176 Genomic DNA. No translation available.
CH471096 Genomic DNA. Translation: EAW63140.1.
BC008797 mRNA. Translation: AAH08797.1.
CCDSiCCDS11982.1. [Q06136-1]
PIRiS37652.
RefSeqiNP_002026.1. NM_002035.2. [Q06136-1]
UniGeneiHs.74050.

3D structure databases

ProteinModelPortaliQ06136.
SMRiQ06136. Positions 28-277.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108807. 21 interactions.
IntActiQ06136. 2 interactions.
MINTiMINT-3025841.
STRINGi9606.ENSP00000385083.

Chemistry

SwissLipidsiSLP:000000155.

PTM databases

iPTMnetiQ06136.
PhosphoSiteiQ06136.
SwissPalmiQ06136.

Polymorphism and mutation databases

BioMutaiKDSR.
DMDMi544358.

Proteomic databases

EPDiQ06136.
MaxQBiQ06136.
PaxDbiQ06136.
PRIDEiQ06136.

Protocols and materials databases

DNASUi2531.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000326575; ENSP00000312939; ENSG00000119537. [Q06136-2]
ENST00000406396; ENSP00000385083; ENSG00000119537. [Q06136-1]
GeneIDi2531.
KEGGihsa:2531.
UCSCiuc010dpw.4. human. [Q06136-1]

Organism-specific databases

CTDi2531.
GeneCardsiKDSR.
HGNCiHGNC:4021. KDSR.
HPAiCAB003673.
HPA044884.
MIMi136440. gene.
neXtProtiNX_Q06136.
PharmGKBiPA162392777.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1210. Eukaryota.
ENOG410YF8M. LUCA.
GeneTreeiENSGT00840000129712.
HOVERGENiHBG005757.
InParanoidiQ06136.
KOiK04708.
OMAiGSMETEE.
OrthoDBiEOG744T98.
PhylomeDBiQ06136.
TreeFamiTF105430.

Enzyme and pathway databases

UniPathwayiUPA00222.
BioCyciMetaCyc:HS04306-MONOMER.
BRENDAi1.1.1.102. 2681.
ReactomeiR-HSA-1660661. Sphingolipid de novo biosynthesis.

Miscellaneous databases

ChiTaRSiKDSR. human.
GeneWikii3-dehydrosphinganine_reductase.
GenomeRNAii2531.
PROiQ06136.
SOURCEiSearch...

Gene expression databases

BgeeiQ06136.
CleanExiHS_KDSR.
ExpressionAtlasiQ06136. baseline and differential.
GenevisibleiQ06136. HS.

Family and domain databases

Gene3Di3.40.50.720. 1 hit.
InterProiIPR016040. NAD(P)-bd_dom.
IPR020904. Sc_DH/Rdtase_CS.
IPR002347. SDR_fam.
[Graphical view]
PfamiPF00106. adh_short. 1 hit.
[Graphical view]
PRINTSiPR00081. GDHRDH.
PR00080. SDRFAMILY.
SUPFAMiSSF51735. SSF51735. 1 hit.
PROSITEiPS00061. ADH_SHORT. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "FVT-1, a novel human transcription unit affected by variant translocation t(2;18)(p11;q21) of follicular lymphoma."
    Rimokh R., Gadoux M., Bertheas M.-F., Berger F., Garoscio M., Deleage G., Germain D., Magaud J.-P.
    Blood 81:136-142(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), CHROMOSOMAL TRANSLOCATION WITH KDSR.
  2. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Amygdala and Heart.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Placenta.
  7. "FVT-1 is a mammalian 3-ketodihydrosphingosine reductase with an active site that faces the cytosolic side of the endoplasmic reticulum membrane."
    Kihara A., Igarashi Y.
    J. Biol. Chem. 279:49243-49250(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: CATALYTIC ACTIVITY, SUBCELLULAR LOCATION, MEMBRANE TOPOLOGY.

Entry informationi

Entry nameiKDSR_HUMAN
AccessioniPrimary (citable) accession number: Q06136
Secondary accession number(s): B2R5Y1, B4DMX0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 1, 1994
Last modified: June 8, 2016
This is version 155 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.