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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P14550: Variant p.Asn52Ser

Aldo-keto reductase family 1 member A1
Gene: AKR1A1
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Variant information Variant position: help 52
Type of variant: help LB/B
Residue change: help From Asparagine (N) to Serine (S) at position 52 (N52S, p.Asn52Ser).
Physico-chemical properties: help Change from medium size and polar (N) to small size and polar (S)
BLOSUM score: help 1
Variant description: help Reduced activity towards daunorubicin.
Other resources: help


Sequence information Variant position: help 52
Protein sequence length: help 325
Location on the sequence: help AVKYALSVGYRHIDCAAIYG N EPEIGEALKEDVGPGKAVPR
Residue conservation: help 
Human                         AVKYALSVGYRHIDCAAIYGNEPEIGEALKEDVGPGKAVPR

Mouse                         AIKHALSAGYRHIDCASVYGNETEIGEALKESVGSGKAVPR

Rat                           AIKYALSVGYRHIDCASVYGNETEIGEALKESVGAGKAVPR

Pig                           AIKYALTVGYRHIDCAAIYGNELEIGEALQETVGPGKAVPR

Bovine                        AIKYALSVGYRHIDCAAIYGNETEIGEALKENVGPGKLVPR

Chicken                       AVKYALSVGYRHVDCAAAYSNEAEIGDAFQECVGPNKVIKR

Xenopus laevis                AVKYALGVGYRHIDCAFVYGNETEVGEAIKESVGPDKGLKR

Xenopus tropicalis            AVKYALGVGYRHIDCAFVYGNETEVGEAIKESVGSDKGLSR
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 325 Aldo-keto reductase family 1 member A1
Active site 50 – 50 Proton donor
Binding site 45 – 45
Modified residue 38 – 38 Phosphoserine
Mutagenesis 50 – 50 Y -> A. Abolished reductase activity.
Mutagenesis 50 – 50 Y -> F. Complete loss of enzymatic activity.
Mutagenesis 50 – 50 Y -> H. Complete loss of enzymatic activity.



Literature citations
Two allelic variants of aldo-keto reductase 1A1 exhibit reduced in vitro metabolism of daunorubicin.
Bains O.S.; Takahashi R.H.; Pfeifer T.A.; Grigliatti T.A.; Reid R.E.; Riggs K.W.;
Drug Metab. Dispos. 36:904-910(2008)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANTS SER-52 AND ASP-55;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.