Q06136 (KDSR_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
3-ketodihydrosphingosine reductase
Short name=KDS reductase
EC=1.1.1.102

Alternative name(s):
3-dehydrosphinganine reductase
Follicular variant translocation protein 1
Short name=FVT-1

Gene names

Name:	KDSR
Synonyms:	FVT1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	332 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Catalyzes the reduction of 3-ketodihydrosphingosine (KDS) to dihydrosphingosine (DHS).
Catalytic activity	Sphinganine + NADP+ = 3-dehydrosphinganine + NADPH. Ref.6
Pathway	Lipid metabolism; sphingolipid metabolism.
Subcellular location	Endoplasmic reticulum membrane; Multi-pass membrane protein Ref.6.
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.
Involvement in disease	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.
Sequence similarities	Belongs to the short-chain dehydrogenases/reductases (SDR) family.

Ontologies

Keywords
Biological process	Lipid metabolism Sphingolipid metabolism
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Chromosomal rearrangement
Disease	Proto-oncogene
Domain	Signal Transmembrane Transmembrane helix
Ligand	NADP
Molecular function	Oxidoreductase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	3-keto-sphinganine metabolic process Inferred from direct assay PubMed 15364918. Source: MGI phospholipid metabolic process Traceable author statement. Source: Reactome sphingolipid biosynthetic process Traceable author statement. Source: Reactome
Cellular_component	endoplasmic reticulum membrane Traceable author statement. Source: Reactome extracellular space Traceable author statement Ref.1. Source: ProtInc integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	3-dehydrosphinganine reductase activity Inferred from direct assay PubMed 15364918. Source: MGI nucleotide binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 25	25	Potential
	Chain	26 – 332	307	3-ketodihydrosphingosine reductase		PRO_0000031982
Regions
	Topological domain	26 – 270	245	Cytoplasmic Potential
	Transmembrane	271 – 291	21	Helical; Potential
	Topological domain	292 – 293	2	Lumenal Potential
	Transmembrane	294 – 314	21	Helical; Potential
	Topological domain	315 – 332	18	Cytoplasmic Potential
	Nucleotide binding	36 – 60	25	NADP Probable
Sites
	Active site	186	1	Proton acceptor By similarity
	Active site	190	1	Probable
	Binding site	173	1	Substrate By similarity

Sequences

	Sequence		Length	Mass (Da)
	Q06136 [UniParc]. Last modified June 1, 1994. Version 1. Checksum: CB4BA5D020858F0C	FASTA	332	36,187
	10 20 30 40 50 60 MLLLAAAFLV AFVLLLYMVS PLISPKPLAL PGAHVVVTGG SSGIGKCIAI ECYKQGAFIT 70 80 90 100 110 120 LVARNEDKLL QAKKEIEMHS INDKQVVLCI SVDVSQDYNQ VENVIKQAQE KLGPVDMLVN 130 140 150 160 170 180 CAGMAVSGKF EDLEVSTFER LMSINYLGSV YPSRAVITTM KERRVGRIVF VSSQAGQLGL 190 200 210 220 230 240 FGFTAYSASK FAIRGLAEAL QMEVKPYNVY ITVAYPPDTD TPGFAEENRT KPLETRLISE 250 260 270 280 290 300 TTSVCKPEQV AKQIVKDAIQ GNFNSSLGSD GYMLSALTCG MAPVTSITEG LQQVVTMGLF 310 320 330 RTIALFYLGS FDSIVRRCMM QREKSENADK TA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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].
[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].
[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]. Tissue: Amygdala.
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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]. Tissue: Placenta.
[6]	"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.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	X63657 mRNA. Translation: CAA45197.1. BT006782 mRNA. Translation: AAP35428.1. AK312360 mRNA. Translation: BAG35278.1. CH471096 Genomic DNA. Translation: EAW63140.1. BC008797 mRNA. Translation: AAH08797.1.
IPI	IPI00029015.
PIR	S37652.
RefSeq	NP_002026.1. NM_002035.2.
UniGene	Hs.74050.
3D structure databases
ProteinModelPortal	Q06136.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q06136. 1 interaction.
STRING	9606.ENSP00000385083.
PTM databases
PhosphoSite	Q06136.
Polymorphism databases
DMDM	544358.
Proteomic databases
PaxDb	Q06136.
PRIDE	Q06136.
Protocols and materials databases
DNASU	2531.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000406396; ENSP00000385083; ENSG00000119537.
GeneID	2531.
KEGG	hsa:2531.
UCSC	uc010dpw.3. human.
Organism-specific databases
CTD	2531.
GeneCards	GC18M060994.
HGNC	HGNC:4021. KDSR.
HPA	CAB003673.
MIM	136440. gene.
neXtProt	NX_Q06136.
PharmGKB	PA162392777.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1028.
HOVERGEN	HBG005757.
InParanoid	Q06136.
KO	K04708.
OMA	DAVQGNF.
OrthoDB	EOG4T783P.
PhylomeDB	Q06136.
Enzyme and pathway databases
BRENDA	1.1.1.102. 2681.
Reactome	REACT_111217. Metabolism.
UniPathway	UPA00222.
Gene expression databases
ArrayExpress	Q06136.
Bgee	Q06136.
CleanEx	HS_KDSR.
Genevestigator	Q06136.
GermOnline	ENSG00000119537. Homo sapiens.
Family and domain databases
Gene3D	3.40.50.720. 1 hit.
InterPro	IPR002198. DH_sc/Rdtase_SDR. IPR002347. Glc/ribitol_DH. IPR016040. NAD(P)-bd_dom. IPR020904. Sc_DH/Rdtase_CS. [Graphical view]
Pfam	PF00106. adh_short. 1 hit. [Graphical view]
PIRSF	PIRSF000126. 11-beta-HSD1. 1 hit.
PRINTS	PR00081. GDHRDH. PR00080. SDRFAMILY.
PROSITE	PS00061. ADH_SHORT. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	KDSR. human.
GenomeRNAi	2531.
NextBio	9983.
SOURCE	Search...

Entry information

Entry name

KDSR_HUMAN

Accession

Primary (citable) accession number: Q06136
Secondary accession number(s): B2R5Y1

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 1, 1994
Last sequence update:	June 1, 1994
Last modified:	May 1, 2013
This is version 124 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.