SRY
Sex-determining region Y protein
Also known as: SRY_HUMAN, TDF
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q05066
- Gene
- SRY
- Ensembl
- ENSG00000184895
- Chromosome
- Y
- Canonical length
- 204 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
OverviewNCBI Gene
This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
204 residues, UniProt reviewed canonical sequence.
>Q05066|SRY
1 MQSYASAMLS VFNSDDYSPA VQENIPALRR SSSFLCTESC NSKYQCETGE NSKGNVQDRV
61 KRPMNAFIVW SRDQRRKMAL ENPRMRNSEI SKQLGYQWKM LTEAEKWPFF QEAQKLQAMH
121 REKYPNYKYR PRRKAKMLPK NCSLLPADPA SVLCSEVQLD NRLYRDDCTK ATHSRMEHQL
181 GHLPPINAAS SPQQRDRYSH WTKLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SRY 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)
- 0.61
- Highest tissue expression
- 2.3 nTPM
Expression across tissuesHPA
Tissue
- testis: 2.3 nTPM
- skin: 1.6 nTPM
- esophagus: 0.6 nTPM
- adrenal gland: 0.3 nTPM
- epididymis: 0.2 nTPM
- hypothalamus: 0.2 nTPM
Single-cell type
- sertoli cells: 11 nCPM
- ependymal cells: 6 nCPM
- müller glia: 1.6 nCPM
- pancreatic islet cells: 1.3 nCPM
- esophageal basal cells: 0.7 nCPM
- choroid plexus epithelial cells: 0.6 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
- midbrain: 1.3 nTPM
- medulla oblongata: 0.8 nTPM
- choroid plexus: 0.5 nTPM
- pons: 0.3 nTPM
- spinal cord: 0.3 nTPM
- hippocampal formation: 0.2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SRY.
Disease | AllUniProt
Conditions SRY is implicated in, by any mechanism.
- 46,XY sex reversal 1 (SRXY1) MIM:400044
- 46,XX sex reversal 1 (SRXX1) MIM:400045
Disease | GeneticClinVar
42 pathogenic / likely-pathogenic of 70 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- 46,XY sex reversal 1
- 46,XX sex reversal 1
- SRY-related disorder
- 46,XY TRUE HERMAPHRODITISM
- 46 XY differences of sex development
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 missense Z
- -0.14
- DepMap mean gene effect
- 0.29
- DepMap dependency class
- none
OntologyGO
Biological processes
- cell differentiation
- male sex determination
- positive regulation of DNA-templated transcription
- positive regulation of gene expression
- positive regulation of male gonad development
- positive regulation of transcription by RNA polymerase II
- sex differentiation
Molecular functions
- calmodulin binding
- DNA binding
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription factor binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SRY in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SRY as an antibody target. Whether an autoantibody or antibody against SRY could matter depends on whether native SRY is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SRY 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 SRY as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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