Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P42330: Variant p.His5Gln

Aldo-keto reductase family 1 member C3
Gene: AKR1C3
Feedback?
Variant information Variant position: help 5
Type of variant: help LB/B
Residue change: help From Histidine (H) to Glutamine (Q) at position 5 (H5Q, p.His5Gln).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and polar.
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 5
Protein sequence length: help 323
Location on the sequence: help MDSK H QCVKLNDGHFMPVLGFGTYA
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 323 Aldo-keto reductase family 1 member C3
Alternative sequence 1 – 119 Missing. In isoform 2.
Helix 3 – 5



Literature citations
Molecular cloning of multiple cDNAs encoding human enzymes structurally related to 3 alpha-hydroxysteroid dehydrogenase.
Qin K.-N.; New M.I.; Cheng K.-C.;
J. Steroid Biochem. Mol. Biol. 46:673-679(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS GLN-5 AND ILE-175; Substrate specificity, gene structure, and tissue-specific distribution of multiple human 3 alpha-hydroxysteroid dehydrogenases.
Khanna M.; Qin K.-N.; Wang R.W.; Cheng K.-C.;
J. Biol. Chem. 270:20162-20168(1995)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; CATALYTIC ACTIVITY; FUNCTION; TISSUE SPECIFICITY; VARIANTS GLN-5 AND ILE-175; Distribution of 3 alpha-hydroxysteroid dehydrogenase in rat brain and molecular cloning of multiple cDNAs encoding structurally related proteins in humans.
Khanna M.; Qin K.-N.; Cheng K.-C.;
J. Steroid Biochem. Mol. Biol. 53:41-46(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT GLN-5; Expression and characterization of recombinant type 2 3 alpha-hydroxysteroid dehydrogenase (HSD) from human prostate: demonstration of bifunctional 3 alpha/17 beta-HSD activity and cellular distribution.
Lin H.-K.; Jez J.M.; Schlegel B.P.; Peehl D.M.; Pachter J.A.; Penning T.M.;
Mol. Endocrinol. 11:1971-1984(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; CATALYTIC ACTIVITY; SUBSTRATE SPECIFICITY; BIOPHYSICOCHEMICAL PROPERTIES; TISSUE SPECIFICITY; VARIANT GLN-5; cDNA cloning, expression and characterization of human prostaglandin F synthase.
Suzuki-Yamamoto T.; Nishizawa M.; Fukui M.; Okuda-Ashitaka E.; Nakajima T.; Ito S.; Watanabe K.;
FEBS Lett. 462:335-340(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 124-190; FUNCTION; CATALYTIC ACTIVITY; TISSUE SPECIFICITY; VARIANT GLN-5; SUBCELLULAR LOCATION; Selective serotonin reuptake inhibitors directly alter activity of neurosteroidogenic enzymes.
Griffin L.D.; Mellon S.H.;
Proc. Natl. Acad. Sci. U.S.A. 96:13512-13517(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); BIOPHYSICOCHEMICAL PROPERTIES; TISSUE SPECIFICITY; VARIANT GLN-5; CATALYTIC ACTIVITY; FUNCTION; Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1.
Nagase T.; Miyajima N.; Tanaka A.; Sazuka T.; Seki N.; Sato S.; Tabata S.; Ishikawa K.; Kawarabayasi Y.; Kotani H.; Nomura N.;
DNA Res. 2:37-43(1995)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT GLN-5;
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.