Format

Send to:

Choose Destination

HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 [ Homo sapiens (human) ]

Gene ID: 51478, updated on 5-May-2020

Summary

Official Symbol
HSD17B7provided by HGNC
Official Full Name
hydroxysteroid 17-beta dehydrogenase 7provided by HGNC
Primary source
HGNC:HGNC:5215
See related
Ensembl:ENSG00000132196 MIM:606756
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
PRAP; SDR37C1
Summary
HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynthesis of cholesterol (Marijanovic et al., 2003 [PubMed 12829805]).[supplied by OMIM, May 2010]
Expression
Ubiquitous expression in adrenal (RPKM 6.0), lymph node (RPKM 4.5) and 25 other tissues See more
Orthologs

Genomic context

See HSD17B7 in Genome Data Viewer
Location:
1q23.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (162790702..162812818)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (162760496..162782608)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724358 Neighboring gene UDP-N-acetylglucosamine pyrophosphorylase 1 Neighboring gene discoidin domain receptor tyrosine kinase 2 Neighboring gene RNA, 7SL, cytoplasmic 861, pseudogene Neighboring gene coiled-coil domain containing 190 Neighboring gene cytochrome c oxidase subunit 7B, mitochondrial pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC12523, MGC75018

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3-keto sterol reductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
3-keto sterol reductase activity TAS
Traceable Author Statement
more info
 
estradiol 17-beta-dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cholesterol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol biosynthetic process TAS
Traceable Author Statement
more info
 
embryonic skeletal system development IEA
Inferred from Electronic Annotation
more info
 
estrogen biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
nervous system development IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
3-keto-steroid reductase
Names
17 beta-hydroxysteroid dehydrogenase type VII
17-beta-HSD 7
17-beta-hydroxysteroid dehydrogenase 7
17beta hydroxysteroid dehydrogenase
estradiol 17-beta-dehydrogenase 7
short chain dehydrogenase/reductase family 37C member 1
NP_001291441.1
NP_001291442.1
NP_057455.1

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001304512.1NP_001291441.1  3-keto-steroid reductase isoform 2

    See identical proteins and their annotated locations for NP_001291441.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AU129437, AW136392, BC007068, DB256037
    UniProtKB/Swiss-Prot
    P56937
    UniProtKB/TrEMBL
    Q9H9C0
    Conserved Domains (1) summary
    cl21454
    Location:2153
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  2. NM_001304513.1NP_001291442.1  3-keto-steroid reductase isoform 3

    See identical proteins and their annotated locations for NP_001291442.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AU129437, AW136392, BC007068
    Consensus CDS
    CCDS76234.1
    UniProtKB/Swiss-Prot
    P56937
    UniProtKB/TrEMBL
    Q5T248
    Conserved Domains (1) summary
    cl25409
    Location:2110
    SDR; Short-chain dehydrogenases/reductases (SDR)
  3. NM_016371.3NP_057455.1  3-keto-steroid reductase isoform 1

    See identical proteins and their annotated locations for NP_057455.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AU129437, BC007068, BC065246
    Consensus CDS
    CCDS1242.1
    UniProtKB/Swiss-Prot
    P56937
    UniProtKB/TrEMBL
    A0A024R913
    Related
    ENSP00000254521.3, ENST00000254521.7
    Conserved Domains (1) summary
    cd08941
    Location:2280
    3KS_SDR_c; 3-keto steroid reductase, classical (c) SDRs

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    162790702..162812818
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_921830.3 RNA Sequence

  2. XR_001737223.2 RNA Sequence

  3. XR_001737222.2 RNA Sequence

Support Center