HSD17B1 (hydroxysteroid 17-beta dehydrogenase 1)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3292
Gene name Gene Name - the full gene name approved by the HGNC.
Hydroxysteroid 17-beta dehydrogenase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HSD17B1
Synonyms (NCBI Gene) Gene synonyms aliases
17-beta-HSD, 20-alpha-HSD, E2DH, EDH17B2, EDHB17, HSD17, SDR28C1
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the 17beta-hydroxysteroid dehydrogenase family of short-chain dehydrogenases/reductases. It has a dual function in estrogen activation and androgen inactivation and plays a major role in establishing the estrogen E2 concentra
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
miRTarBase ID miRNA Experiments Reference
MIRT053179 hsa-miR-210-3p Luciferase reporter assay, qRT-PCR 22203747
MIRT053180 hsa-miR-518c-3p Luciferase reporter assay, qRT-PCR 22203747
MIRT2245031 hsa-miR-1208 CLIP-seq
MIRT2245032 hsa-miR-149 CLIP-seq
MIRT2245033 hsa-miR-3064-5p CLIP-seq
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
Transcription factor Regulation Reference
GATA3 Repression 9231796
SP1 Activation 9231796
TFAP2A Repression 9231796
TFAP2A Unknown 10419022
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(38)
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity TAS 8547176
GO:0004303 Function Estradiol 17-beta-dehydrogenase [NAD(P)+] activity IBA
GO:0004303 Function Estradiol 17-beta-dehydrogenase [NAD(P)+] activity IDA 4396689, 8994190, 9525918, 10625652
GO:0004303 Function Estradiol 17-beta-dehydrogenase [NAD(P)+] activity IEA
GO:0005496 Function Steroid binding IDA 4396689
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
109684 5210 ENSG00000108786
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P14061
Protein name 17-beta-hydroxysteroid dehydrogenase type 1 (17-beta-HSD 1) (EC 1.1.1.51) (20 alpha-hydroxysteroid dehydrogenase) (20-alpha-HSD) (E2DH) (Estradiol 17-beta-dehydrogenase 1) (EC 1.1.1.62) (Placental 17-beta-hydroxysteroid dehydrogenase) (Short chain dehydro
Protein function Favors the reduction of estrogens and androgens. Converts estrone (E1) to a more potent estrogen, 17beta-estradiol (E2) (PubMed:8994190). Also has 20-alpha-HSD activity. Uses preferentially NADH.
PDB 1A27 , 1BHS , 1DHT , 1EQU , 1FDS , 1FDT , 1FDU , 1FDV , 1FDW , 1I5R , 1IOL , 1JTV , 1QYV , 1QYW , 1QYX , 3DEY , 3DHE , 3HB4 , 3HB5 , 3KLM , 3KLP , 3KM0 , 6CGC , 6CGE , 6DTP , 6MNC , 6MNE , 7X3Z
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00106 adh_short 4 → 201 short chain dehydrogenase Domain
Sequence 
MARTVVLITGCSSGIGLHLAVRLASDPSQSFKVYATLRDLKTQGRLWEAARALACPPGSL
ETLQLDVRDSKSVAAARERVTEGRVDVLVCNAGLGLLGPLEALGEDAVASVLDVNVVGTV
RMLQAFLPDMKRRGSGRVLVTGSVGGLMGLPFNDVYCASKFALEGLCESLAVLLLPFGVH
LSLIECGPVHTAFMEKVLGSPEEVLDRTDIHTFHRFYQYLAHSKQVFREAAQNPEEVAEV
FLTALRAPKPTLRYFTTERFLPLLRMRLDDPSGSNYVTAMHREVFGDVPAKAEAGAEAGG
GAGPGAEDEAGRGAVGDPELGDPPAAPQ
Sequence length 328
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Steroid hormone biosynthesis
Metabolic pathways
Ovarian steroidogenesis 		  Estrogen biosynthesis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Eczema Eczema N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (32)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Bone Diseases Metabolic Associate 21092186
Breast Diseases Associate 20682005
Breast Neoplasms Associate 11212283, 16311626, 18483327, 19308726, 19679043, 19729830, 20172961, 22691413, 25966904, 29790386, 35745085
Breast Neoplasms Male Associate 23096432
Carcinogenesis Associate 36518267
Carcinoma Hepatocellular Associate 24563232
Colonic Neoplasms Associate 10945506
Colorectal Neoplasms Inhibit 22176788
Cysts Associate 24855493
Endometrial Neoplasms Associate 17301695