Gene/Proteome Database (LMPD)

LMPD ID
LMP000718
Gene ID
1109
Species
Homo sapiens (Human)
Gene Name
aldo-keto reductase family 1, member C4
Gene Symbol
AKR1C4
Synonyms
3-alpha-HSD; C11; CDR; CHDR; DD-4; DD4; HAKRA
Alternate Names
aldo-keto reductase family 1 member C4; 3-alpha-HSD1; dihydrodiol dehydrogenase isozyme DD4; type I 3-alpha-hydroxysteroid dehydrogenase; chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4
Chromosome
10
Map Location
10p15.1
EC Number
1.1.1.-
Summary
This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]
Orthologs
View orthologs and multiple alignments for AKR1C4

Proteins

aldo-keto reductase family 1 member C4
Refseq ID NP_001809
Protein GI 325652083
UniProt ID P17516
mRNA ID NM_001818
Length 323
RefSeq Status REVIEWED
MDPKYQRVELNDGHFMPVLGFGTYAPPEVPRNRAVEVTKLAIEAGFRHIDSAYLYNNEEQVGLAIRSKIADGSVKREDIFYTSKLWCTFFQPQMVQPALESSLKKLQLDYVDLYLLHFPMALKPGETPLPKDENGKVIFDTVDLSATWEVMEKCKDAGLAKSIGVSNFNCRQLEMILNKPGLKYKPVCNQVECHPYLNQSKLLDFCKSKDIVLVAHSALGTQRHKLWVDPNSPVLLEDPVLCALAKKHKRTPALIALRYQLQRGVVVLAKSYNEQRIRENIQVFEFQLTSEDMKVLDGLNRNYRYVVMDFLMDHPDYPFSDEY

Gene Information

Entrez Gene ID
1109
Gene Name
aldo-keto reductase family 1, member C4
Gene Symbol
AKR1C4
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005737 TAS:ProtInc C cytoplasm
GO:0005829 TAS:Reactome C cytosol
GO:0070062 IDA:UniProtKB C extracellular vesicular exosome
GO:0004033 TAS:ProtInc F aldo-keto reductase (NADP) activity
GO:0047023 IDA:UniProtKB F androsterone dehydrogenase activity
GO:0015125 TAS:ProtInc F bile acid transmembrane transporter activity
GO:0047743 IEA:UniProtKB-EC F chlordecone reductase activity
GO:0009055 TAS:UniProtKB F electron carrier activity
GO:0016655 IDA:UniProtKB F oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor
GO:0001758 IDA:UniProtKB F retinal dehydrogenase activity
GO:0008209 TAS:ProtInc P androgen metabolic process
GO:0015721 TAS:ProtInc P bile acid and bile salt transport
GO:0006699 TAS:Reactome P bile acid biosynthetic process
GO:0008206 TAS:Reactome P bile acid metabolic process
GO:0071395 IDA:UniProtKB P cellular response to jasmonic acid stimulus
GO:0044597 IMP:UniProtKB P daunorubicin metabolic process
GO:0044598 IMP:UniProtKB P doxorubicin metabolic process
GO:0007603 TAS:Reactome P phototransduction, visible light
GO:0001523 TAS:Reactome P retinoid metabolic process
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0008202 TAS:ProtInc P steroid metabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa00120 Primary bile acid biosynthesis
hsa00140 Steroid hormone biosynthesis

Domain Information

InterPro Annotations

Accession Description
IPR001395 Aldo/keto reductase
IPR020471 Aldo/keto reductase subgroup
IPR018170 Aldo/keto reductase, conserved site
IPR023210 NADP-dependent oxidoreductase domain

UniProt Annotations

Entry Information

Gene Name
aldo-keto reductase family 1, member C4
Protein Entry
AK1C4_HUMAN
UniProt ID
P17516
Species
Human

Comments

Comment Type Description
Catalytic Activity A 3-alpha-hydroxysteroid + NAD(P)(+) = a 3- oxosteroid + NAD(P)H.
Catalytic Activity Chlordecone alcohol + NADP(+) = chlordecone + NADPH.
Disease 46,XY sex reversal 8 (SRXY8) [MIM
Function Catalyzes the transformation of the potent androgen dihydrotestosterone (DHT) into the less active form, 5-alpha- androstan-3-alpha,17-beta-diol (3-alpha-diol). Also has some 20- alpha-hydroxysteroid dehydrogenase activity. The biotransformation of the pesticide chlordecone (kepone) to its corresponding alcohol leads to increased biliary excretion of the pesticide and concomitant reduction of its neurotoxicity since bile is the major excretory route.
Polymorphism The allele with Cys-145/Val-311 shows a three- to five-fold decrease in catalytic efficiency for xenobiotic and steroidal substrates compared to the Ser-145/Leu-311 allele.
Ptm The N-terminus is blocked.
Sequence Caution Sequence=AAA35658.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ;
Similarity Belongs to the aldo/keto reductase family.
Subcellular Location Cytoplasm.
Subunit Monomer.
Tissue Specificity Liver specific. {ECO

Identical and Related Proteins

Unique RefSeq proteins for LMP000718 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
325652083 RefSeq NP_001809 323 aldo-keto reductase family 1 member C4

Identical Sequences to LMP000718 proteins

Reference Database Accession Length Protein Name
GI:325652083 EMBL CBX51394.1 323 unnamed protein product [Homo sapiens]
GI:325652083 GenBank ADA20748.1 323 Sequence 2572 from patent US 7608413
GI:325652083 GenBank ADA20756.1 323 Sequence 2580 from patent US 7608413
GI:325652083 GenBank ADT47550.1 323 Sequence 1211 from patent US 7842466
GI:325652083 GenBank AEN36644.1 323 Sequence 2572 from patent US 7998689
GI:325652083 GenBank AEN36652.1 323 Sequence 2580 from patent US 7998689

Related Sequences to LMP000718 proteins

Reference Database Accession Length Protein Name
GI:325652083 GenBank ACM81672.1 325 Sequence 7170 from patent US 6812339
GI:325652083 GenBank ADA20754.1 323 Sequence 2578 from patent US 7608413
GI:325652083 GenBank ADT47544.1 461 Sequence 1205 from patent US 7842466
GI:325652083 GenBank AEN36650.1 323 Sequence 2578 from patent US 7998689
GI:325652083 GenBank AHE01103.1 323 Sequence 56019 from patent US 8586006
GI:325652083 SwissProt P17516.3 323 RecName: Full=Aldo-keto reductase family 1 member C4; AltName: Full=3-alpha-HSD1; AltName: Full=3-alpha-hydroxysteroid dehydrogenase type I; AltName: Full=Chlordecone reductase; Short=CDR; AltName: Full=Dihydrodiol dehydrogenase 4; Short=DD-4; Short=DD4; AltName: Full=HAKRA [Homo sapiens]