HSD17B14 hydroxysteroid 17-beta dehydrogenase 14 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HSD17B14provided by HGNC
Official Full Name: hydroxysteroid 17-beta dehydrogenase 14provided by HGNC
Primary source: HGNC:HGNC:23238
See related: Ensembl:ENSG00000087076 MIM:612832
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: DHRS10; SDR47C1; retSDR3
Summary: 17-beta-hydroxysteroid dehydrogenases, such as HSD17B14, are primarily involved in metabolism of steroids at the C17 position and also of other substrates, such as fatty acids, prostaglandins, and xenobiotics (Lukacik et al., 2007 [PubMed 17067289]).[supplied by OMIM, Jun 2009]
Expression: Broad expression in kidney (RPKM 32.8), ovary (RPKM 12.9) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.33

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
109.20211119	current	GRCh38.p13 (GCF_000001405.39)	19	NC_000019.10 (48813014..48836688, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (49316275..49339748, complement)

Chromosome 19 - NC_000019.10 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?

Association of Coding Variants in Hydroxysteroid 17-beta Dehydrogenase 14 (HSD17B14) with Reduced Progression to End Stage Kidney Disease in Type 1 Diabetes.
Title: Association of Coding Variants in Hydroxysteroid 17-beta Dehydrogenase 14 (<i>HSD17B14</i>) with Reduced Progression to End Stage Kidney Disease in Type 1 Diabetes.
Five new variants of HSD17B14 characterized by crystallography and enzyme kinetics. Tyr253' from the adjacent monomer ties the two monomers together. Disulfide bridge formed by Cys255 and Cys255' is not crucial for dimer stabilization.
Title: Mutational and structural studies uncover crucial amino acids determining activity and stability of 17β-HSD14.
Results show that tumoural expression levels of 17betaHSD14 can predict the outcome of adjuvant tamoxifen treatment in terms of local recurrence-free survival in patients with lymph node-negative ER+ breast cancer.
Title: 17β-Hydroxysteroid dehydrogenase type 14 is a predictive marker for tamoxifen response in oestrogen receptor positive breast cancer.
crystal structure of the DHRS10 apoenzyme exhibits secondary structure of the SDR (short-chain dehydrogenase/reductase) family
Title: Structural and biochemical characterization of human orphan DHRS10 reveals a novel cytosolic enzyme with steroid dehydrogenase activity.

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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

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

RH103213 (e-PCR)
- UniSTS:97546

L29754 (e-PCR)
- UniSTS:13488

RH91362 (e-PCR)
- UniSTS:91871

Homology

Homologs of the HSD17B14 gene: The HSD17B14 gene is conserved in chimpanzee, dog, cow, mouse, rat, zebrafish, mosquito, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 280 organisms have orthologs with human gene HSD17B14
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 17-beta-hydroxysteroid dehydrogenase (NAD+) activity	IEA Inferred from Electronic Annotation more info
enables estradiol 17-beta-dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables estradiol 17-beta-dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables testosterone 17-beta-dehydrogenase (NADP+) activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in steroid catabolic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in steroid catabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: 17-beta-hydroxysteroid dehydrogenase 14

Names: 17-beta-HSD 14; 17-beta-hydroxysteroid dehydrogenase DHRS10; dehydrogenase/reductase (SDR family) member 10; retinal short-chain dehydrogenase/reductase 3; retinal short-chain dehydrogenase/reductase retSDR3; short chain dehydrogenase/reductase family 47C member 1; testicular tissue protein Li 52

NP_057330.2

EC 1.1.1.62

XP_005259026.1

EC 1.1.1.62

XP_005259027.1

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_016246.3 → NP_057330.2 17-beta-hydroxysteroid dehydrogenase 14

See identical proteins and their annotated locations for NP_057330.2

Status: VALIDATED

Source sequence(s)

BC006283, BC006294, BI602824

Consensus CDS

CCDS12736.1

UniProtKB/Swiss-Prot

Q9BPX1

UniProtKB/TrEMBL

A0A140VJH8

Related

ENSP00000263278.3, ENST00000263278.9

Conserved Domains (1) summary

cd08933
Location:1 → 256

RDH_SDR_c; retinal dehydrogenase-like, classical (c) SDR

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p13 Primary Assembly

Range

48813014..48836688 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005258969.4 → XP_005259026.1 17-beta-hydroxysteroid dehydrogenase 14 isoform X1

Related

ENSP00000469557.1, ENST00000595764.1

Conserved Domains (1) summary

cl21454
Location:1 → 181

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
XM_005258970.3 → XP_005259027.1 17-beta-hydroxysteroid dehydrogenase 14 isoform X2

Conserved Domains (1) summary

cl21454
Location:1 → 102

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