KDSR
entrez
2531
canonical
uniprot
Q06136
canonical
ensembl
ENSG00000119537
resolver
ensp
ENSP00000494352
resolver
genesymbol
KDSR
resolver
genesymbol_syn
FVT1
resolver
genesymbol_syn
SDR35C1
resolver
hgnc
HGNC:4021
resolver
uniprot
B2R5Y1
resolver
uniprot
B4DMX0
resolver
uniprot_entry
KDSR_HUMAN
resolver
uniprot_sec
B2R5Y1
resolver
uniprot_sec
B4DMX0
resolver
amino_acid_sequence
MLLLAAAFLVAFVLLLYMVSPLISPKPLALPGAHVVVTGGSSGIGKCIAIECYKQGAFITLVARNEDKLLQAKKEIEMHSINDKQVVLCISVDVSQDYNQVENVIKQAQEKLGPVDMLVNCAGMAVSGKFEDLEVSTFERLMSINYLGSVYPSRAVITTMKERRVGRIVFVSSQAGQLGLFGFTAYSASKFAIRGLAEALQMEVKPYNVYITVAYPPDTDTPGFAEENRTKPLETRLISETTSVCKPEQVAKQIVKDAIQGNFNSSLGSDGYMLSALTCGMAPVTSITEGLQQVVTMGLFRTIALFYLGSFDSIVRRCMMQREKSENADKTA
uniprot
proteins
disease_involvement
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 (PubMed:8417785). {ECO:0000269|PubMed:8417785}.; DISEASE: Erythrokeratodermia variabilis et progressiva 4 (EKVP4) [MIM:617526]: A 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. {ECO:0000269|PubMed:19141869, ECO:0000269|PubMed:28575652, ECO:0000269|PubMed:28774589, ECO:0000269|PubMed:29799648, ECO:0000269|PubMed:30467204, ECO:0000269|PubMed:34277909, ECO:0000269|PubMed:34686882, ECO:0000269|PubMed:35958175, ECO:0000269|PubMed:36263748, ECO:0000269|PubMed:36546314}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Defects in KDSR may be the cause of a spectrum of keratinization disorders with or without associated thrombocytopenia characterized by palmoplantar and anogenital hyperkeratosis or a more generalized phenotype resembling harlequin ichthyosis. {ECO:0000269|PubMed:28774589, ECO:0000269|PubMed:31987885, ECO:0000269|PubMed:34277909, ECO:0000269|PubMed:34686882}.
uniprot
proteins
ec_number
1.1.1.102
uniprot
proteins
function
FUNCTION: Catalyzes the reduction of 3'-oxosphinganine (3-ketodihydrosphingosine/KDS) to sphinganine (dihydrosphingosine/DHS), the second step of de novo sphingolipid biosynthesis. {ECO:0000269|PubMed:19141869, ECO:0000269|PubMed:28575652, ECO:0000269|PubMed:28774589, ECO:0000269|PubMed:34373586, ECO:0000269|PubMed:36170811}.
uniprot
proteins
mass_dalton
36187
uniprot
proteins
mutagenesis
MUTAGEN 173; /note="S->A: Impairs activity."; /evidence="ECO:0000269|PubMed:19141869"; MUTAGEN 175; /note="A->T,V: Impairs activity."; /evidence="ECO:0000269|PubMed:19141869"; MUTAGEN 186; /note="Y->Q: Impairs activity."; /evidence="ECO:0000269|PubMed:19141869"; MUTAGEN 190; /note="K->R,I: Impairs activity."; /evidence="ECO:0000269|PubMed:19141869
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; sphingolipid metabolism.
uniprot
proteins
protein_family
Short-chain dehydrogenases/reductases (SDR) family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15328338
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16177791
uniprot
proteins
pubmed
19141869
uniprot
proteins
pubmed
28575652
uniprot
proteins
pubmed
28774589
uniprot
proteins
pubmed
29799648
uniprot
proteins
pubmed
30467204
uniprot
proteins
pubmed
31987885
uniprot
proteins
pubmed
34277909
uniprot
proteins
pubmed
34373586
uniprot
proteins
pubmed
34686882
uniprot
proteins
pubmed
35958175
uniprot
proteins
pubmed
36170811
uniprot
proteins
pubmed
36263748
uniprot
proteins
pubmed
36546314
uniprot
proteins
pubmed
8417785
uniprot
proteins
sequence_length
332
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15328338, ECO:0000269|PubMed:19141869}; Multi-pass membrane protein {ECO:0000269|PubMed:15328338}.
uniprot
proteins
transmembrane_region
TRANSMEM 271..291; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 294..314; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins