DMRT1
Doublesex- and mab-3-related transcription factor 1
Also known as: CT154, DMRT1_HUMAN, DMT1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y5R6
- Gene
- DMRT1
- Ensembl
- ENSG00000137090
- Chromosome
- 9
- Canonical length
- 373 aa
- Protein class
- Disease related genes, Predicted intracellular proteins, Transcription factors
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
373 residues, UniProt reviewed canonical sequence.
>Q9Y5R6|DMRT1
1 MPNDEAFSKP STPSEAPHAP GVPPQGRAGG FGKASGALVG AASGSSAGGS SRGGGSGSGA
61 SDLGAGSKKS PRLPKCARCR NHGYASPLKG HKRFCMWRDC QCKKCNLIAE RQRVMAAQVA
121 LRRQQAQEEE LGISHPIPLP SAAELLVKRE NNGSNPCLMT ECSGTSQPPP ASVPTTAASE
181 GRMVIQDIPA VTSRGHVENT PDLVSDSTYY SSFYQPSLFP YYNNLYNCPQ YSMALAADSA
241 SGEVGNPLGG SPVKNSLRGL PGPYVPGQTG NQWQMKNMEN RHAMSSQYRM HSYYPPPSYL
301 GQSVPQFFTF EDAPSYPEAR ASVFSPPSSQ DSGLVSLSSS SPISNKSTKA VLECEPASEP
361 SSFTVTPVIE EDELocalizationUniProt · AlphaFold · HPA
Whether an antibody against DMRT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.69
- Highest tissue expression
- 25 nTPM
Expression across tissuesHPA
Tissue
- testis: 25 nTPM
- choroid plexus: 0.3 nTPM
- thyroid gland: 0.2 nTPM
- adipose tissue: 0 nTPM
- adrenal gland: 0 nTPM
- amygdala: 0 nTPM
Single-cell type
- differentiating spermatogonia: 331 nCPM
- sertoli cells: 213 nCPM
- undifferentiated spermatogonia: 107 nCPM
- early spermatids: 72 nCPM
- early primary spermatocytes: 33 nCPM
- late spermatids: 16 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- choroid plexus: 0.3 nTPM
- hippocampal formation: 0.1 nTPM
- amygdala: 0 nTPM
- basal ganglia: 0 nTPM
- cerebellum: 0 nTPM
- cerebral cortex: 0 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DMRT1.
Disease | AllUniProt
Conditions DMRT1 is implicated in, by any mechanism.
- Testicular germ cell tumor (TGCT) MIM:273300
- 46,XY sex reversal 4 (SRXY4) MIM:154230
Disease | GeneticClinVar
10 pathogenic / likely-pathogenic of 151 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Male infertility with azoospermia or oligozoospermia due to single gene mutation
- Male infertility
- 46,XY sex reversal 4
- Non-obstructive azoospermia
- 46,XY gonadal dysgenesis
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.48
- gnomAD pLI
- 0.74
- gnomAD missense Z
- -0.44
- DepMap mean gene effect
- 0.08
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell morphogenesis
- germ cell migration
- intracellular signal transduction
- male germ cell proliferation
- male sex determination
- male sex differentiation
- meiosis I
- negative regulation of meiotic nuclear division
- negative regulation of transcription by RNA polymerase II
- oocyte development
- positive regulation of male gonad development
- positive regulation of meiosis I
- positive regulation of mitotic nuclear division
- positive regulation of transcription by RNA polymerase II
- regulation of nodal signaling pathway
- regulation of transcription by RNA polymerase II
- Sertoli cell development
- Sertoli cell differentiation
- sex differentiation
- spermatogenesis
Molecular functions
- chromatin binding
- cis-regulatory region sequence-specific DNA binding
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity, RNA polymerase II-specific
- identical protein binding
- metal ion binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- DM DNA-binding domain
- DMRT family
- DM DNA-binding domain superfamily
- DM DNA binding domain
- Doublesex- and mab-3-related transcription factor 1-like
- Double-sex mab3 related transcription factor 1
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DMRT1 as an antibody target. Whether an autoantibody or antibody against DMRT1 could matter depends on whether native DMRT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DMRT1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label DMRT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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