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DMRT1 doublesex and mab-3 related transcription factor 1 [ Homo sapiens (human) ]

Gene ID: 1761, updated on 21-Apr-2019

Summary

Official Symbol
DMRT1provided by HGNC
Official Full Name
doublesex and mab-3 related transcription factor 1provided by HGNC
Primary source
HGNC:HGNC:2934
See related
Ensembl:ENSG00000137090 MIM:602424
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
DMT1; CT154
Summary
This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like DNA-binding motif (DM domain). The DM domain is an ancient, conserved component of the vertebrate sex-determining pathway that is also a key regulator of male development in flies and nematodes. This gene exhibits a gonad-specific and sexually dimorphic expression pattern. Defective testicular development and XY feminization occur when this gene is hemizygous. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward testis (RPKM 15.0) See more
Orthologs

Genomic context

See DMRT1 in Genome Data Viewer
Location:
9p24.3
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (841647..969090)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (841690..969090)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene KN motif and ankyrin repeat domains 1 Neighboring gene phosphatidylinositol 4,5-bisphosphate 5-phosphatase A-like Neighboring gene uncharacterized LOC105375949 Neighboring gene VISTA enhancer hs112 Neighboring gene doublesex and mab-3 related transcription factor 3

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 FunctionsWhat's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-06-06)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2012-06-06)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility.
NHGRI GWA Catalog
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
NHGRI GWA Catalog
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
NHGRI GWA Catalog
Meta-analysis identifies four new loci associated with testicular germ cell tumor.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
Sertoli cell development IEA
Inferred from Electronic Annotation
more info
 
Sertoli cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
cell morphogenesis IEA
Inferred from Electronic Annotation
more info
 
germ cell migration IEA
Inferred from Electronic Annotation
more info
 
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
male germ cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
male sex determination ISS
Inferred from Sequence or Structural Similarity
more info
 
male sex differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of meiotic nuclear division ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of male gonad development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of mitotic nuclear division ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of nodal signaling pathway IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
doublesex- and mab-3-related transcription factor 1
Names
DM domain expressed in testis 1
DM domain expressed in testis protein 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.

Genomic

  1. NG_009221.1 RefSeqGene

    Range
    5001..132401
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001363767.1NP_001350696.1  doublesex- and mab-3-related transcription factor 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL136365
    Consensus CDS
    CCDS87636.1
    Conserved Domains (1) summary
    pfam12374
    Location:344
    Dmrt1; Double-sex mab3 related transcription factor 1
  2. NM_021951.3NP_068770.2  doublesex- and mab-3-related transcription factor 1 isoform 1

    See identical proteins and their annotated locations for NP_068770.2

    Status: REVIEWED

    Source sequence(s)
    AF130728, BC040847, BG202785
    Consensus CDS
    CCDS6442.1
    UniProtKB/Swiss-Prot
    Q9Y5R6
    Related
    ENSP00000371711.3, ENST00000382276.8
    Conserved Domains (2) summary
    pfam00751
    Location:72118
    DM; DM DNA binding domain
    pfam12374
    Location:130202
    Dmrt1; Double-sex mab3 related transcription factor 1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    841647..969090
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716732.1XP_006716795.1  doublesex- and mab-3-related transcription factor 1 isoform X3

    Conserved Domains (2) summary
    pfam00751
    Location:72118
    DM; DM DNA binding domain
    pfam12374
    Location:130202
    Dmrt1; Double-sex mab3 related transcription factor 1
  2. XM_017014375.1XP_016869864.1  doublesex- and mab-3-related transcription factor 1 isoform X8

  3. XM_011517770.1XP_011516072.1  doublesex- and mab-3-related transcription factor 1 isoform X1

    Conserved Domains (1) summary
    pfam12374
    Location:146218
    Dmrt1; Double-sex mab3 related transcription factor 1
  4. XM_011517771.1XP_011516073.1  doublesex- and mab-3-related transcription factor 1 isoform X2

    Conserved Domains (1) summary
    pfam12374
    Location:146218
    Dmrt1; Double-sex mab3 related transcription factor 1
  5. XM_011517772.1XP_011516074.1  doublesex- and mab-3-related transcription factor 1 isoform X4

    Conserved Domains (1) summary
    pfam12374
    Location:146218
    Dmrt1; Double-sex mab3 related transcription factor 1
  6. XM_017014374.1XP_016869863.1  doublesex- and mab-3-related transcription factor 1 isoform X5

  7. XM_024447433.1XP_024303201.1  doublesex- and mab-3-related transcription factor 1 isoform X7

    Related
    ENSP00000454701.1, ENST00000569227.1
    Conserved Domains (1) summary
    pfam12374
    Location:344
    Dmrt1; Double-sex mab3 related transcription factor 1
  8. XM_011517773.3XP_011516075.1  doublesex- and mab-3-related transcription factor 1 isoform X6

    Conserved Domains (1) summary
    pfam12374
    Location:144
    Dmrt1; Double-sex mab3 related transcription factor 1
  9. XM_024447434.1XP_024303202.1  doublesex- and mab-3-related transcription factor 1 isoform X9

    Conserved Domains (1) summary
    pfam12374
    Location:120
    Dmrt1; Double-sex mab3 related transcription factor 1
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