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DHRS1 dehydrogenase/reductase 1 [ Homo sapiens (human) ]

Gene ID: 115817, updated on 7-Jun-2020

Summary

Official Symbol
DHRS1provided by HGNC
Official Full Name
dehydrogenase/reductase 1provided by HGNC
Primary source
HGNC:HGNC:16445
See related
Ensembl:ENSG00000157379 MIM:610410
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SDR19C1
Summary
This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded enzyme contains a conserved catalytic domain and likely functions as an oxidoreductase. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008]
Expression
Ubiquitous expression in liver (RPKM 39.6), esophagus (RPKM 38.5) and 24 other tissues See more
Orthologs

Genomic context

See DHRS1 in Genome Data Viewer
Location:
14q12
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (24290598..24299780, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24759804..24769039, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene transglutaminase 1 Neighboring gene TGM1 promoter region Neighboring gene Rab geranylgeranyltransferase subunit alpha Neighboring gene uncharacterized LOC102725044 Neighboring gene nonconserved acetylation island sequence 81 enhancer Neighboring gene NOP9 nucleolar protein Neighboring gene cell death inducing DFFA like effector b Neighboring gene leukotriene B4 receptor 2 Neighboring gene leukotriene B4 receptor

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?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14250, FLJ25430, MGC20204, DKFZp586I0523

Gene Ontology Provided by GOA

Function Evidence Code Pubs
oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
dehydrogenase/reductase SDR family member 1
Names
dehydrogenase/reductase (SDR family) member 1
short chain dehydrogenase/reductase family 19C member 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_001136050.3NP_001129522.1  dehydrogenase/reductase SDR family member 1

    See identical proteins and their annotated locations for NP_001129522.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AF418205, AL833917, DB272453
    Consensus CDS
    CCDS9623.1
    UniProtKB/Swiss-Prot
    Q96LJ7
    Related
    ENSP00000288111.7, ENST00000288111.12
    Conserved Domains (2) summary
    cd09763
    Location:5271
    DHRS1-like_SDR_c; human dehydrogenase/reductase (SDR family) member 1 (DHRS1) -like, classical (c) SDRs
    PRK08303
    Location:1271
    PRK08303; short chain dehydrogenase; Provisional
  2. NM_138452.2NP_612461.1  dehydrogenase/reductase SDR family member 1

    See identical proteins and their annotated locations for NP_612461.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK058159, AL096870, BC014057
    Consensus CDS
    CCDS9623.1
    UniProtKB/Swiss-Prot
    Q96LJ7
    Related
    ENSP00000380027.1, ENST00000396813.5
    Conserved Domains (2) summary
    cd09763
    Location:5271
    DHRS1-like_SDR_c; human dehydrogenase/reductase (SDR family) member 1 (DHRS1) -like, classical (c) SDRs
    PRK08303
    Location:1271
    PRK08303; short chain dehydrogenase; Provisional

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_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    24290598..24299780 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654722.1 Reference GRCh38.p13 PATCHES

    Range
    591576..600758 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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