HSD17B11 hydroxysteroid 17-beta dehydrogenase 11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HSD17B11provided by HGNC
Official Full Name: hydroxysteroid 17-beta dehydrogenase 11provided by HGNC
Primary source: HGNC:HGNC:22960
See related: Ensembl:ENSG00000198189 MIM:612831; AllianceGenome:HGNC:22960
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DHRS8; PAN1B; RETSDR2; SDR16C2; 17BHSD11; 17-BETA-HSD11; 17-BETA-HSDXI
Summary: Short-chain alcohol dehydrogenases, such as HSD17B11, metabolize secondary alcohols and ketones (Brereton et al., 2001 [PubMed 11165019]).[supplied by OMIM, Jun 2009]
Expression: Broad expression in small intestine (RPKM 142.3), duodenum (RPKM 102.8) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q22.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (87336515..87391188, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (90665555..90720229, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (88257667..88312340, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

knowledge of its in vitro activity together with a newly described expression pattern at the protein level in tissues involved in steroidogenesis and detoxification could suggest a potential role of DHRS8 in vivo
Title: Human dehydrogenase/reductase (SDR family) member 8 (DHRS8): a description and evaluation of its biochemical properties.
hydroxysteroid (17-beta) dehydrogenase 11 transcription in prostate cancer cells is regulated by Sp1 transcription factor and C-EBP alpha
Title: Transcriptional regulation of type 11 17β-hydroxysteroid dehydrogenase expression in prostate cancer cells.
Increased Pan1b is associated with prostate cancer of seminal vesicle invasion.
Title: 17beta-hydroxysteroid dehydrogenase type 11 (Pan1b) expression in human prostate cancer.
Mutation analyses suggest that the PAT-like motif in 17betaHSD11 will not be functionally similar to the canonical PAT motif.
Title: Identification and characterization of the ER/lipid droplet-targeting sequence in 17beta-hydroxysteroid dehydrogenase type 11.
Role for 17-beta-HSDXI in androgen metabolism during steroidogenesis.
Title: 17 beta-hydroxysteroid dehydrogenase type XI localizes to human steroidogenic cells.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic variants associated with disordered eating. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D4S3294 (e-PCR)
- UniSTS:12128

RH36051 (e-PCR)
- UniSTS:82808

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables estradiol 17-beta-dehydrogenase [NAD(P)] activity	IDA Inferred from Direct Assay more info	PubMed
enables estradiol 17-beta-dehydrogenase [NAD(P)] activity	TAS Traceable Author Statement more info
enables oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables steroid dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables steroid dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in androgen catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in estrogen biosynthetic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
is_active_in lipid droplet	IBA Inferred from Biological aspect of Ancestor more info
located_in lipid droplet	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: estradiol 17-beta-dehydrogenase 11

Names: 17-beta-hydroxysteroid dehydrogenase type XI; CTCL tumor antigen HD-CL-03; CTCL-associated antigen HD-CL-03; cutaneous T-cell lymphoma-associated antigen HD-CL-03; dehydrogenase/reductase SDR family member 8; retinal short-chain dehydrogenase/reductase 2; short chain dehydrogenase/reductase family 16C member 2

NP_057329.3

EC 1.1.1.62

XP_011530323.1

EC 1.1.1.62

XP_054206127.1

EC 1.1.1.62

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_016245.5 → NP_057329.3 estradiol 17-beta-dehydrogenase 11 precursor

See identical proteins and their annotated locations for NP_057329.3

Status: VALIDATED

Source sequence(s)

AC108516, AF273056, BC014327, BM976691, BU838518

Consensus CDS

CCDS3619.1

UniProtKB/Swiss-Prot

Q8NBQ5, Q96HF6, Q9UKU4

UniProtKB/TrEMBL

D6RCD0

Related

ENSP00000351035.4, ENST00000358290.9

Conserved Domains (1) summary

cd05339
Location:38 → 277

17beta-HSDXI-like_SDR_c; human 17-beta-hydroxysteroid dehydrogenase XI-like, classical (c) SDRs

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

87336515..87391188 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011532021.2 → XP_011530323.1 estradiol 17-beta-dehydrogenase 11 isoform X1

Conserved Domains (1) summary

cl21454
Location:38 → 150

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins