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DMRTA1 DMRT like family A1 [ Homo sapiens (human) ]

Gene ID: 63951, updated on 25-Jan-2022

Summary

Official Symbol
DMRTA1provided by HGNC
Official Full Name
DMRT like family A1provided by HGNC
Primary source
HGNC:HGNC:13826
See related
Ensembl:ENSG00000176399 MIM:614803; AllianceGenome:HGNC:13826
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
DMO; DMRT4
Summary
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in germ cell development; regulation of transcription by RNA polymerase II; and sex differentiation. Predicted to act upstream of or within male mating behavior and ovarian follicle development. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2021]
Expression
Broad expression in liver (RPKM 4.0), kidney (RPKM 3.0) and 19 other tissues See more
Orthologs
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Genomic context

See DMRTA1 in Genome Data Viewer
Location:
9p21.3
Exon count:
2
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (22446824..22455740)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (22446823..22455739)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 15403 Neighboring gene CDKN2B antisense RNA 1 Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 6 Neighboring gene uncharacterized LOC107987054 Neighboring gene long intergenic non-protein coding RNA 1239 Neighboring gene chloride intracellular channel 4 pseudogene 1

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

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • MGC163307, MGC163309

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in germ cell development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in male mating behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in ovarian follicle development IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in sex differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
doublesex- and mab-3-related transcription factor A1

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)

  1. NM_022160.3NP_071443.2  doublesex- and mab-3-related transcription factor A1

    See identical proteins and their annotated locations for NP_071443.2

    Status: VALIDATED

    Source sequence(s)
    AK096011, AL161730, BC130435
    Consensus CDS
    CCDS6514.1
    UniProtKB/Swiss-Prot
    Q5VZB9
    Related
    ENSP00000319651.1, ENST00000325870.3
    Conserved Domains (2) summary
    cd14417
    Location:325364
    CUE_DMA_DMRTA1; CUE-like DMA domain found in doublesex- and mab-3-related transcription factor A1 (DMRTA1) and similar proteins
    pfam00751
    Location:93139
    DM; DM DNA binding domain

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

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    22446824..22455740
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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