Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6718
Gene name	Aldo-keto reductase family 1 member D1
Gene symbol	AKR1D1
Synonyms (NCBI Gene)	3o5bredCBAS2SRD5B1
Chromosome	7
Chromosome location	7q33
Summary	The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript

Show/Hide all (11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918342	C>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121918343	C>T	Pathogenic	Missense variant, coding sequence variant
rs187887082	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs201988060	G>A,C,T	Likely-pathogenic, uncertain-significance	Splice donor variant
rs267606649	C>G	Pathogenic	Missense variant, coding sequence variant
rs267606650	C>T	Pathogenic	Missense variant, coding sequence variant
rs749744865	G>A	Likely-pathogenic	Splice acceptor variant
rs916587979	G>T	Likely-pathogenic	Splice donor variant
rs1433614577	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs1554394506	G>T	Likely-pathogenic	3 prime UTR variant, stop lost, terminator codon variant
rs1562938039	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant

147

Show/Hide all (147)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024083	hsa-miR-1-3p	Microarray	18668037
MIRT716455	hsa-miR-1298-5p	HITS-CLIP	19536157
MIRT716454	hsa-miR-670-3p	HITS-CLIP	19536157
MIRT716453	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT629357	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT624768	hsa-miR-5193	HITS-CLIP	23824327
MIRT624767	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT624766	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT624765	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT624764	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT624763	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT624762	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT624761	hsa-miR-4268	HITS-CLIP	23824327
MIRT624760	hsa-miR-4284	HITS-CLIP	23824327
MIRT624759	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT624770	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT624769	hsa-miR-4532	HITS-CLIP	23824327
MIRT624768	hsa-miR-5193	HITS-CLIP	23824327
MIRT624767	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT624766	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT624765	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT624764	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT624763	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT624762	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT624761	hsa-miR-4268	HITS-CLIP	23824327
MIRT624760	hsa-miR-4284	HITS-CLIP	23824327
MIRT624759	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT441513	hsa-miR-1277-5p	PAR-CLIP	22100165
MIRT441512	hsa-miR-3653-3p	PAR-CLIP	22100165
MIRT441511	hsa-miR-3658	PAR-CLIP	22100165
MIRT716455	hsa-miR-1298-5p	HITS-CLIP	19536157
MIRT716454	hsa-miR-670-3p	HITS-CLIP	19536157
MIRT716453	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT629357	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT624768	hsa-miR-5193	HITS-CLIP	23824327
MIRT624767	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT624766	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT624765	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT624764	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT624763	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT624762	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT624761	hsa-miR-4268	HITS-CLIP	23824327
MIRT624760	hsa-miR-4284	HITS-CLIP	23824327
MIRT624759	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT624770	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT624769	hsa-miR-4532	HITS-CLIP	23824327
MIRT624768	hsa-miR-5193	HITS-CLIP	23824327
MIRT624767	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT624766	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT624765	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT624764	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT624763	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT624762	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT624761	hsa-miR-4268	HITS-CLIP	23824327
MIRT624760	hsa-miR-4284	HITS-CLIP	23824327
MIRT624759	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT441513	hsa-miR-1277-5p	PAR-CLIP	22100165
MIRT441512	hsa-miR-3653-3p	PAR-CLIP	22100165
MIRT441511	hsa-miR-3658	PAR-CLIP	22100165
MIRT776307	hsa-miR-1206	CLIP-seq
MIRT776308	hsa-miR-1224-3p	CLIP-seq
MIRT776309	hsa-miR-129-5p	CLIP-seq
MIRT776310	hsa-miR-139-3p	CLIP-seq
MIRT776311	hsa-miR-145	CLIP-seq
MIRT776312	hsa-miR-1913	CLIP-seq
MIRT776313	hsa-miR-1976	CLIP-seq
MIRT776314	hsa-miR-3180-5p	CLIP-seq
MIRT776315	hsa-miR-324-3p	CLIP-seq
MIRT776316	hsa-miR-3653	CLIP-seq
MIRT776317	hsa-miR-3672	CLIP-seq
MIRT776318	hsa-miR-4257	CLIP-seq
MIRT776319	hsa-miR-4294	CLIP-seq
MIRT776320	hsa-miR-4302	CLIP-seq
MIRT776321	hsa-miR-4318	CLIP-seq
MIRT776322	hsa-miR-4694-5p	CLIP-seq
MIRT776323	hsa-miR-4696	CLIP-seq
MIRT776324	hsa-miR-4697-3p	CLIP-seq
MIRT776325	hsa-miR-520a-5p	CLIP-seq
MIRT776326	hsa-miR-525-5p	CLIP-seq
MIRT776327	hsa-miR-653	CLIP-seq
MIRT776328	hsa-miR-720	CLIP-seq
MIRT776308	hsa-miR-1224-3p	CLIP-seq
MIRT776310	hsa-miR-139-3p	CLIP-seq
MIRT776312	hsa-miR-1913	CLIP-seq
MIRT776313	hsa-miR-1976	CLIP-seq
MIRT776315	hsa-miR-324-3p	CLIP-seq
MIRT776319	hsa-miR-4294	CLIP-seq
MIRT776329	hsa-miR-4426	CLIP-seq
MIRT776330	hsa-miR-4647	CLIP-seq
MIRT776331	hsa-miR-4662b	CLIP-seq
MIRT776332	hsa-miR-5096	CLIP-seq
MIRT776328	hsa-miR-720	CLIP-seq
MIRT1929132	hsa-miR-1202	CLIP-seq
MIRT1929133	hsa-miR-3064-3p	CLIP-seq
MIRT1929134	hsa-miR-3194-5p	CLIP-seq
MIRT1929135	hsa-miR-3972	CLIP-seq
MIRT1929136	hsa-miR-4325	CLIP-seq
MIRT776332	hsa-miR-5096	CLIP-seq
MIRT2169800	hsa-miR-2964a-5p	CLIP-seq
MIRT2169801	hsa-miR-3163	CLIP-seq
MIRT2169802	hsa-miR-4423-5p	CLIP-seq
MIRT2169803	hsa-miR-4781-3p	CLIP-seq
MIRT2169804	hsa-miR-511	CLIP-seq
MIRT2384054	hsa-miR-1288	CLIP-seq
MIRT2384055	hsa-miR-4418	CLIP-seq
MIRT2384056	hsa-miR-4743	CLIP-seq
MIRT2384057	hsa-miR-509-3-5p	CLIP-seq
MIRT2384058	hsa-miR-509-5p	CLIP-seq
MIRT776332	hsa-miR-5096	CLIP-seq
MIRT776309	hsa-miR-129-5p	CLIP-seq
MIRT2443513	hsa-miR-1972	CLIP-seq
MIRT2443514	hsa-miR-3149	CLIP-seq
MIRT776317	hsa-miR-3672	CLIP-seq
MIRT2443515	hsa-miR-411	CLIP-seq
MIRT2443516	hsa-miR-4258	CLIP-seq
MIRT776319	hsa-miR-4294	CLIP-seq
MIRT2443517	hsa-miR-4650-5p	CLIP-seq
MIRT2443518	hsa-miR-4716-5p	CLIP-seq
MIRT2443519	hsa-miR-4735-5p	CLIP-seq
MIRT2384056	hsa-miR-4743	CLIP-seq
MIRT2443520	hsa-miR-4775	CLIP-seq
MIRT2443521	hsa-miR-4794	CLIP-seq
MIRT2443522	hsa-miR-483-5p	CLIP-seq
MIRT776332	hsa-miR-5096	CLIP-seq
MIRT2443523	hsa-miR-510	CLIP-seq
MIRT2443524	hsa-miR-590-3p	CLIP-seq
MIRT776328	hsa-miR-720	CLIP-seq
MIRT776309	hsa-miR-129-5p	CLIP-seq
MIRT2443514	hsa-miR-3149	CLIP-seq
MIRT2443515	hsa-miR-411	CLIP-seq
MIRT2443516	hsa-miR-4258	CLIP-seq
MIRT2443519	hsa-miR-4735-5p	CLIP-seq
MIRT2443520	hsa-miR-4775	CLIP-seq
MIRT2443521	hsa-miR-4794	CLIP-seq
MIRT2443522	hsa-miR-483-5p	CLIP-seq
MIRT776332	hsa-miR-5096	CLIP-seq
MIRT2443524	hsa-miR-590-3p	CLIP-seq
MIRT776309	hsa-miR-129-5p	CLIP-seq
MIRT2443514	hsa-miR-3149	CLIP-seq
MIRT2443515	hsa-miR-411	CLIP-seq
MIRT2443516	hsa-miR-4258	CLIP-seq
MIRT2443519	hsa-miR-4735-5p	CLIP-seq
MIRT2443520	hsa-miR-4775	CLIP-seq
MIRT2443521	hsa-miR-4794	CLIP-seq
MIRT2443522	hsa-miR-483-5p	CLIP-seq
MIRT776332	hsa-miR-5096	CLIP-seq
MIRT2443524	hsa-miR-590-3p	CLIP-seq

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004032	Function	Aldose reductase (NADPH) activity	IBA
GO:0005496	Function	Steroid binding	TAS	7508385
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	7508385
GO:0005829	Component	Cytosol	TAS
GO:0006066	Process	Alcohol metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006699	Process	Bile acid biosynthetic process	IDA	7508385
GO:0006699	Process	Bile acid biosynthetic process	IDA	7508385
GO:0006699	Process	Bile acid biosynthetic process	IEA
GO:0006699	Process	Bile acid biosynthetic process	TAS
GO:0006707	Process	Cholesterol catabolic process	IDA	7508385
GO:0007586	Process	Digestion	IDA	7508385
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008207	Process	C21-steroid hormone metabolic process	IDA	7508385
GO:0008209	Process	Androgen metabolic process	IBA
GO:0008209	Process	Androgen metabolic process	IDA	7508385
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016229	Function	Steroid dehydrogenase activity	IBA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0030573	Process	Bile acid catabolic process	IEA
GO:0032787	Process	Monocarboxylic acid metabolic process	IEA
GO:0042445	Process	Hormone metabolic process	IEA
GO:0047086	Function	Ketosteroid monooxygenase activity	IBA
GO:0047787	Function	Delta4-3-oxosteroid 5beta-reductase activity	IEA

MIM	HGNC	e!Ensembl
604741	388	ENSG00000122787

P51857

Protein name

Aldo-keto reductase family 1 member D1 (EC 1.3.1.3) (3-oxo-5-beta-steroid 4-dehydrogenase) (Delta(4)-3-ketosteroid 5-beta-reductase) (Delta(4)-3-oxosteroid 5-beta-reductase)

Protein function

Catalyzes the stereospecific NADPH-dependent reduction of the C4-C5 double bond of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure to yield an A/B cis-ring junction. This cis-configuration is crucial for bile aci

PDB

3BUR , 3BUV , 3BV7 , 3CAQ , 3CAS , 3CAV , 3CMF , 3COT , 3DOP , 3G1R , 3UZW , 3UZX , 3UZY , 3UZZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00248	Aldo_ket_red	20 → 304	Aldo/keto reductase family	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in liver. Expressed in testis and weakly in colon. {ECO:0000269|PubMed:11342103}.

Sequence

MDLSAASHRIPLSDGNSIPIIGLGTYSEPKSTPKGACATSVKVAIDTGYRHIDGAYIYQN
EHEVGEAIREKIAEGKVRREDIFYCGKLWATNHVPEMVRPTLERTLRVLQLDYVDLYIIE
VPMAFKPGDEIYPRDENGKWLYHKSNLCATWEAMEACKDAGLVKSLGVSNFNRRQLELIL
NKPGLKHKPVSNQVECHPYFTQPKLLKFCQQHDIVITAYSPLGTSRNPIWVNVSSPPLLK
DALLNSLGKRYNKTAAQIVLRFNIQRGVVVIPKSFNLERIKENFQIFDFSLTEEEMKDIE
ALNKNVRFVELLMWRDHPEYPFHDEY

Sequence length

326

Interactions

View interactions

	KEGG		Reactome
	Primary bile acid biosynthesis Steroid hormone biosynthesis Metabolic pathways		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

146

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
AKR1D1-related disorder	Likely pathogenic	rs2536095242, rs749744865	RCV003400357 RCV003962710
Congenital bile acid synthesis defect	Likely pathogenic; Pathogenic	rs267606650	RCV004798717
Congenital bile acid synthesis defect 2	Likely pathogenic; Pathogenic	rs182820353, rs749224036, rs759908186, rs121918343, rs267606650, rs1337598962, rs1433614577, rs1315777461, rs1236669456, rs770247815	RCV001374413 RCV003227972 RCV001785905 RCV000005707 RCV000005709 RCV005407242 RCV000779528 RCV000985019 RCV001169872 RCV001169922

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Benign	rs35402657	RCV005867218
Familial cancer of breast	Benign	rs3735023	RCV005899177
Malignant lymphoma, large B-cell, diffuse	Benign	rs2166188	RCV005922186
Malignant tumor of esophagus	Benign; Likely benign	rs144365681	RCV005899175
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs144365681	RCV005899176

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adrenoleukodystrophy	Associate	30544401
Amino Acid Metabolism Inborn Errors	Associate	31337596
Arthritis Rheumatoid	Associate	28413214
Band Heterotopia of Brain	Associate	12970144
Bile Acid Malabsorption Primary	Associate	23323017, 23679950, 26418565
Bile acid synthesis defect congenital 1	Associate	35758383
Bile acid synthesis defect congenital 2	Associate	23323017, 31337596, 35758383, 36739965, 38062451
Bile acid synthesis defect congenital 4	Associate	36739965
Carcinogenesis	Inhibit	33493134
Carcinoma Hepatocellular	Associate	30769091, 33493134
Chemical and Drug Induced Liver Injury	Associate	12970144
Cholestasis	Associate	23679950, 26418565, 35758383, 8707100
Cholestasis Intrahepatic	Associate	31337596
Diabetes Mellitus Type 2	Inhibit	31330134
Fatty Liver	Associate	31330134
Fibrosis	Inhibit	31330134
Immunologic Deficiency Syndromes	Associate	36739965
Infant Newborn Diseases	Associate	36739965
Inflammation	Associate	31330134
Liver Diseases	Associate	12970144, 23679950, 8707100
Liver Failure	Associate	12970144, 36739965
Multiple Sclerosis	Associate	12970144
Neonatal hemochromatosis	Associate	26418565
Neoplasms	Associate	33493134
Non alcoholic Fatty Liver Disease	Associate	31330134
Primary hyperoxaluria type 2	Inhibit	12970144

AKR1D1 (aldo-keto reductase family 1 member D1)