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AKR1C4 (aldo-keto reductase family 1 member C4)
Gene
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1109
Gene nameGene Name - the full gene name approved by the HGNC.
Aldo-keto reductase family 1 member C4
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
AKR1C4
SynonymsGene synonyms aliases
3-alpha-HSD, C11, CDR, CHDR, DD-4, DD4, HAKRA
ChromosomeChromosome number
10
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10p15.1
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs398122815 G>T Risk-factor Intron variant
Transcription factors
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Transcription factor Regulation Reference
HNF1A Unknown 11284743
HNF4A Unknown 11284743
HNF4G Unknown 11284743
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0001523 Process Retinoid metabolic process TAS
GO:0001758 Function Retinal dehydrogenase activity IDA 21851338
GO:0004032 Function Alditol:NADP+ 1-oxidoreductase activity IBA 21873635
GO:0004033 Function Aldo-keto reductase (NADP) activity TAS 7650035
GO:0004303 Function Estradiol 17-beta-dehydrogenase activity IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P17516
Protein name Aldo-keto reductase family 1 member C4 (EC 1.1.1.-) (EC 1.1.1.209) (EC 1.1.1.210) (EC 1.1.1.51) (EC 1.1.1.53) (EC 1.1.1.62) (3-alpha-hydroxysteroid dehydrogenase type I) (3-alpha-HSD1) (EC 1.1.1.357) (3alpha-hydroxysteroid 3-dehydrogenase) (Chlordecone re
Protein function Cytosolic aldo-keto reductase that catalyzes the NADH and NADPH-dependent reduction of ketosteroids to hydroxysteroids. Liver specific enzyme that acts as an NAD(P)(H)-dependent 3-, 17- and 20-ketosteroid reductase on the steroid nucleus and sid
PDB 2FVL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00248 Aldo_ket_red
18 → 301
Aldo/keto reductase family
 Domain
Sequence
Sequence length 323
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Primary bile acid biosynthesis
Steroid hormone biosynthesis
Metabolic pathways
Chemical carcinogenesis - reactive oxygen species 		  Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
Synthesis of bile acids and bile salts via 24-hydroxycholesterol
Synthesis of bile acids and bile salts via 27-hydroxycholesterol
Retinoid metabolism and transport
Associated diseases
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
46, xy disorder of sex development 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency rs387906750, rs797044460, rs387906751, rs13222, rs398122815
46, xy sex reversal MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE rs111033589, rs1592184934, rs121908255, rs121908256, rs606231178, rs104894956, rs104894957, rs104894958, rs104894959, rs104894964, rs606231179, rs104894966, rs104894967, rs104894968, rs104894969, rs104894965, rs104894970, rs104894974, rs104894975, rs104894976, rs104894977, rs104894971, rs104894972, rs104894973, rs121918654, rs104894119, rs104894123, rs606231205, rs104894124, rs104894125, rs104894126, rs104894120, rs606231206, rs121918655, rs121918656, rs606231207, rs1131692053, rs387906788, rs606231252, rs200834568, rs863224904, rs775441984, rs867798393, rs886041049, rs1057517779, rs1057519638, rs1057519627, rs1131692186, rs1554721235, rs1554721883, rs1554034036, rs1556370556, rs1556370576, rs1556370548, rs1556370558, rs1565573786, rs1565572949, rs1480612338, rs1579750361, rs375469069, rs1603308308, rs1588618614, rs1588621944, rs1585684790, rs1954619788, rs1384892917, rs1954336272, rs1954346640, rs1954336215 21802064
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Unknown
Disease name Disease term dbSNP ID References
Ambiguous genitalia Ambiguous Genitalia rs782562963
Bipolar disorder Bipolar Disorder, Depression, Bipolar 21570127, 22356824, 21570127
Male pseudohermaphroditism Male Pseudohermaphroditism
Manic disorder Manic, Manic Disorder 21570127

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