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Protein

3-ketodihydrosphingosine reductase

Gene

KDSR

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

Functioni

Catalyzes the reduction of 3-ketodihydrosphingosine (KDS) to dihydrosphingosine (DHS).1 Publication

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)DescriptionActionsGraphical viewLength
Binding sitei173SubstrateBy similarity1
Active sitei186Proton acceptorPROSITE-ProRule annotation1
Active sitei190Curated1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi36 – 60NADPCuratedAdd BLAST25

GO - Molecular functioni

  • 3-dehydrosphinganine reductase activity Source: MGI

GO - Biological processi

  • 3-keto-sphinganine metabolic process Source: MGI
  • sphingolipid biosynthetic process Source: Reactome

Keywordsi

Molecular functionOxidoreductase
Biological processLipid metabolism, Sphingolipid metabolism
LigandNADP

Enzyme and pathway databases

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

Chemistry databases

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

EuPathDBiHostDB:ENSG00000119537.15
HGNCiHGNC:4021 KDSR
MIMi136440 gene
neXtProtiNX_Q06136

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini26 – 270CytoplasmicSequence analysisAdd BLAST245
Transmembranei271 – 291HelicalSequence analysisAdd BLAST21
Topological domaini292 – 293LumenalSequence analysis2
Transmembranei294 – 314HelicalSequence analysisAdd BLAST21
Topological domaini315 – 332CytoplasmicSequence analysisAdd BLAST18

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).1 Publication
Erythrokeratodermia variabilis et progressiva 4 (EKVP4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases.
See also OMIM:617526
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07918555 – 56QG → R in EKVP4; loss of 3-dehydrosphinganine reductase activity. 1 Publication2
Natural variantiVAR_07918686 – 107Missing in EKVP4; loss of 3-dehydrosphinganine reductase activity. 1 PublicationAdd BLAST22
Natural variantiVAR_079187186Y → F in EKVP4. 1 Publication1
Natural variantiVAR_079188260 – 293Missing in EKVP4; loss of 3-dehydrosphinganine reductase activity. 1 PublicationAdd BLAST34

Keywords - Diseasei

Disease mutation, Palmoplantar keratoderma, Proto-oncogene

Organism-specific databases

DisGeNETi2531
MalaCardsiKDSR
MIMi617526 phenotype
OpenTargetsiENSG00000119537
PharmGKBiPA162392777

Polymorphism and mutation databases

BioMutaiKDSR
DMDMi544358

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 25Sequence analysisAdd BLAST25
ChainiPRO_000003198226 – 3323-ketodihydrosphingosine reductaseAdd BLAST307

Proteomic databases

EPDiQ06136
MaxQBiQ06136
PaxDbiQ06136
PeptideAtlasiQ06136
PRIDEiQ06136
ProteomicsDBi58417

PTM databases

iPTMnetiQ06136
PhosphoSitePlusiQ06136
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

BgeeiENSG00000119537
CleanExiHS_KDSR
ExpressionAtlasiQ06136 baseline and differential
GenevisibleiQ06136 HS

Organism-specific databases

HPAiCAB003673
HPA044884

Interactioni

Protein-protein interaction databases

BioGridi108807, 25 interactors
IntActiQ06136, 7 interactors
MINTiQ06136
STRINGi9606.ENSP00000385083

Structurei

3D structure databases

ProteinModelPortaliQ06136
SMRiQ06136
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1210 Eukaryota
ENOG410YF8M LUCA
GeneTreeiENSGT00920000148940
HOVERGENiHBG005757
InParanoidiQ06136
KOiK04708
OMAiNCAGMAI
OrthoDBiEOG091G0CEK
PhylomeDBiQ06136
TreeFamiTF105430

Family and domain databases

InterProiView protein in InterPro
IPR036291 NAD(P)-bd_dom_sf
IPR020904 Sc_DH/Rdtase_CS
IPR002347 SDR_fam
PfamiView protein in Pfam
PF00106 adh_short, 1 hit
PRINTSiPR00081 GDHRDH
PR00080 SDRFAMILY
SUPFAMiSSF51735 SSF51735, 1 hit
PROSITEiView protein in PROSITE
PS00061 ADH_SHORT, 1 hit

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07918555 – 56QG → R in EKVP4; loss of 3-dehydrosphinganine reductase activity. 1 Publication2
Natural variantiVAR_07918686 – 107Missing in EKVP4; loss of 3-dehydrosphinganine reductase activity. 1 PublicationAdd BLAST22
Natural variantiVAR_079187186Y → F in EKVP4. 1 Publication1
Natural variantiVAR_079188260 – 293Missing in EKVP4; loss of 3-dehydrosphinganine reductase activity. 1 PublicationAdd BLAST34

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_056641139 – 202Missing in isoform 2. 1 PublicationAdd BLAST64

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]
ENST00000645214; ENSP00000494352; ENSG00000119537 [Q06136-1]
GeneIDi2531
KEGGihsa:2531
UCSCiuc010dpw.4 human [Q06136-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

Similar proteinsi

Entry informationi

Entry nameiKDSR_HUMAN
AccessioniPrimary (citable) accession number: Q06136
Secondary accession number(s): B2R5Y1, B4DMX0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 1, 1994
Last modified: June 20, 2018
This is version 172 of the entry and version 1 of the sequence. See 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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

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