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Protein

Sex-determining region Y protein

Gene

SRY

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Transcriptional regulator that controls a genetic switch in male development. It is necessary and sufficient for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (By similarity). In male adult brain involved in the maintenance of motor functions of dopaminergic neurons (By similarity). Involved in different aspects of gene regulation including promoter activation or repression (By similarity). Promotes DNA bending. SRY HMG box recognizes DNA by partial intercalation in the minor groove. Also involved in pre-mRNA splicing. Binds to the DNA consensus sequence 5'-[AT]AACAA[AT]-3'.By similarity4 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi60 – 128HMG boxPROSITE-ProRule annotationAdd BLAST69

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, Calmodulin-binding, DNA-binding, Repressor
Biological processDifferentiation, Sexual differentiation, Transcription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-3769402 Deactivation of the beta-catenin transactivating complex

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
Q05066

SIGNOR Signaling Network Open Resource

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SIGNORi
Q05066

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Sex-determining region Y protein
Alternative name(s):
Testis-determining factor
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SRY
Synonyms:TDF
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome Y

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000184895.7

Human Gene Nomenclature Database

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HGNCi
HGNC:11311 SRY

Online Mendelian Inheritance in Man (OMIM)

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MIMi
480000 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q05066

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

46,XY sex reversal 1 (SRXY1)26 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. Patients manifest rapid and early degeneration of their gonads, which are present in the adult as 'streak gonads', consisting mainly of fibrous tissue and variable amounts of ovarian stroma. As a result these patients do not develop secondary sexual characteristics at puberty. The external genitalia in these subjects are completely female, and Muellerian structures are normal.
See also OMIM:400044
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0300193S → L in SRXY1. 1 Publication1
Natural variantiVAR_00371718S → N in SRXY1; partial; also in two patients with a Turner syndrome phenotype. 2 PublicationsCorresponds to variant dbSNP:rs104894971EnsemblClinVar.1
Natural variantiVAR_00371860V → A in SRXY1. 1 PublicationCorresponds to variant dbSNP:rs764249635Ensembl.1
Natural variantiVAR_00371960V → L in SRXY1. 2 PublicationsCorresponds to variant dbSNP:rs104894957EnsemblClinVar.1
Natural variantiVAR_00372062R → G in SRXY1. 1 Publication1
Natural variantiVAR_00372164M → I in SRXY1; alters interaction with DNA and DNA bending. 2 PublicationsCorresponds to variant dbSNP:rs104894969EnsemblClinVar.1
Natural variantiVAR_01729864M → R in SRXY1. 1 Publication1
Natural variantiVAR_01729967F → V in SRXY1. 1 Publication1
Natural variantiVAR_00372268I → T in SRXY1. 1 PublicationCorresponds to variant dbSNP:rs104894968EnsemblClinVar.1
Natural variantiVAR_07843375R → M in SRXY1; localizes mainly in the cytoplasm. 1 Publication1
Natural variantiVAR_01730076R → S in SRXY1. 1 Publication1
Natural variantiVAR_00372378M → T in SRXY1. 1 Publication1
Natural variantiVAR_01730187N → Y in SRXY1. 1 Publication1
Natural variantiVAR_00372490I → M in SRXY1. 3 PublicationsCorresponds to variant dbSNP:rs104894959EnsemblClinVar.1
Natural variantiVAR_00372591S → G in SRXY1. 1 Publication1
Natural variantiVAR_01730295G → E in SRXY1. 1 PublicationCorresponds to variant dbSNP:rs104894972EnsemblClinVar.1
Natural variantiVAR_00372695G → R in SRXY1. 1 PublicationCorresponds to variant dbSNP:rs104894974EnsemblClinVar.1
Natural variantiVAR_003727101L → H in SRXY1. 1 Publication1
Natural variantiVAR_003728106K → I in SRXY1. 1 PublicationCorresponds to variant dbSNP:rs104894964EnsemblClinVar.1
Natural variantiVAR_003729108P → R in SRXY1. 1 Publication1
Natural variantiVAR_003730109F → S in SRXY1. 1 PublicationCorresponds to variant dbSNP:rs104894956EnsemblClinVar.1
Natural variantiVAR_003731113A → T in SRXY1. 1 PublicationCorresponds to variant dbSNP:rs104894966EnsemblClinVar.1
Natural variantiVAR_003732125P → L in SRXY1. 1 Publication1
Natural variantiVAR_003733127Y → C in SRXY1. 1 Publication1
Natural variantiVAR_017303127Y → F in SRXY1. 1 PublicationCorresponds to variant dbSNP:rs104894973EnsemblClinVar.1
Natural variantiVAR_017304131P → R in SRXY1. 1 Publication1
Natural variantiVAR_003734133R → W in SRXY1. 1 PublicationCorresponds to variant dbSNP:rs104894976EnsemblClinVar.1
A 45,X chromosomal aberration involving SRY is found in Turner syndrome, a disease characterized by gonadal dysgenesis with short stature, "streak gonads", variable abnormalities such as webbing of the neck, cubitus valgus, cardiac defects, low posterior hair line. The phenotype is female.
46,XX sex reversal 1 (SRXX1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA condition in which male gonads develop in a genetic female (female to male sex reversal).
See also OMIM:400045

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi31 – 33SSS → AAA: Abolishes its phosphorylation by PKA. Does not enhance its DNA-binding activity. Abolishes stimulation of transcription repression. 1 Publication3
Mutagenesisi62R → G: Strongly reduces nuclear localization. Strongly reduces nuclear localization; when associated with W-133. Reduces interaction with KPNB1. Abolishes DNA-binding. 1 Publication1
Mutagenesisi64M → I: Abolishes nuclear localization. 1 Publication1
Mutagenesisi75R → N: Strongly reduces nuclear localization. Abolishes DNA-binding. Does not reduce interaction with KPNB1 and CAML. 2 Publications1
Mutagenesisi76R → P: Reduces nuclear localization. Reduces DNA-binding. Does not reduce interaction with KPNB1 and CAML. 2 Publications1
Mutagenesisi115K → R: Does not abolish acetylation activity. 1 Publication1
Mutagenesisi123K → R: Does not abolish acetylation. 1 Publication1
Mutagenesisi128K → R: Does not abolish acetylation. 1 Publication1
Mutagenesisi133R → W: Reduces nuclear localization. Strongly reduces nuclear localization; when associated with G-62. Reduces interaction with KPNB1. Does not reduce interaction with CAML. Does not abolish DNA-binding. 2 Publications1
Mutagenesisi134K → R: Does not abolish acetylation. 1 Publication1
Mutagenesisi136K → R: Abolishes acetylation. Does not abolish interaction with EP300. Does not abolish DNA-binding. Enhances cytoplasmic localization. Abolishes interaction with KPNB1. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
6736

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
SRY

MalaCards human disease database

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MalaCardsi
SRY
MIMi400044 phenotype
400045 phenotype

Open Targets

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OpenTargetsi
ENSG00000184895

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
1772 45,X/46,XY mixed gonadal dysgenesis
2138 46,XX ovotesticular disorder of sex development
393 46,XX testicular disorder of sex development
242 46,XY complete gonadal dysgenesis
251510 46,XY partial gonadal dysgenesis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA36135

Polymorphism and mutation databases

Domain mapping of disease mutations (DMDM)

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DMDMi
548983

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000486711 – 204Sex-determining region Y proteinAdd BLAST204

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei136N6-acetyllysine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated on serine residues by PKA. Phosphorylation by PKA enhances its DNA-binding activity and stimulates transcription repression.1 Publication
Acetylation of Lys-136 contributes to its nuclear localization and enhances its interaction with KPNB1. Deacetylated by HDAC3.1 Publication
Poly-ADP-ribosylated by PARP1. ADP-ribosylation reduces its DNA-binding activity.

Keywords - PTMi

Acetylation, ADP-ribosylation

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q05066

PRoteomics IDEntifications database

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PRIDEi
Q05066

ProteomicsDB human proteome resource

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ProteomicsDBi
58304

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q05066

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q05066

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000184895 Expressed in 43 organ(s), highest expression level in skin of abdomen

CleanEx database of gene expression profiles

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CleanExi
HS_SRY

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q05066 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q05066 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with CALM, EP300, HDAC3, KPNB1, ZNF208 isoform KRAB-O, PARP1, SLC9A3R2 and WT1. The interaction with EP300 modulates its DNA-binding activity. The interaction with KPNB1 is sensitive to dissociation by Ran in the GTP-bound form (By similarity). Interaction with PARP1 impaired its DNA-binding activity (By similarity).By similarity

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112614, 19 interactors

Protein interaction database and analysis system

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IntActi
Q05066, 1 interactor

Molecular INTeraction database

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MINTi
Q05066

STRING: functional protein association networks

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STRINGi
9606.ENSP00000372547

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1204
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q05066

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q05066

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q05066

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni59 – 136Sufficient for interaction with KPNB1Add BLAST78
Regioni61 – 77Required for nuclear localizationAdd BLAST17
Regioni107 – 139Sufficient for interaction with EP3001 PublicationAdd BLAST33
Regioni130 – 136Required for nuclear localization7
Regioni138 – 155Necessary for interaction with ZNF208 isoform KRAB-OAdd BLAST18
Regioni198 – 204Necessary for interaction with SLC9A3R21 Publication7

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

DNA binding and bending properties of the HMG domains of human and mouse SRY differ form each other. Human SRY shows more extensive minor groove contacts with DNA and a lower specificity of sequence recognition than mouse SRY.

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the SRY family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0527 Eukaryota
ENOG410XT0K LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000165583

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000008601

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG008712

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q05066

KEGG Orthology (KO)

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KOi
K09266

Identification of Orthologs from Complete Genome Data

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OMAi
DCTKATH

Database of Orthologous Groups

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OrthoDBi
EOG091G0JDD

Database for complete collections of gene phylogenies

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PhylomeDBi
Q05066

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.30.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
IPR017253 SRY

The PANTHER Classification System

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PANTHERi
PTHR10270:SF199 PTHR10270:SF199, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00505 HMG_box, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF037653 SRY, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00398 HMG, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47095 SSF47095, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50118 HMG_BOX_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

Q05066-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MQSYASAMLS VFNSDDYSPA VQENIPALRR SSSFLCTESC NSKYQCETGE
60 70 80 90 100
NSKGNVQDRV KRPMNAFIVW SRDQRRKMAL ENPRMRNSEI SKQLGYQWKM
110 120 130 140 150
LTEAEKWPFF QEAQKLQAMH REKYPNYKYR PRRKAKMLPK NCSLLPADPA
160 170 180 190 200
SVLCSEVQLD NRLYRDDCTK ATHSRMEHQL GHLPPINAAS SPQQRDRYSH

WTKL
Length:204
Mass (Da):23,884
Last modified:June 1, 1994 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i84323C30A9C2173E
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0300193S → L in SRXY1. 1 Publication1
Natural variantiVAR_00371718S → N in SRXY1; partial; also in two patients with a Turner syndrome phenotype. 2 PublicationsCorresponds to variant dbSNP:rs104894971EnsemblClinVar.1
Natural variantiVAR_00371860V → A in SRXY1. 1 PublicationCorresponds to variant dbSNP:rs764249635Ensembl.1
Natural variantiVAR_00371960V → L in SRXY1. 2 PublicationsCorresponds to variant dbSNP:rs104894957EnsemblClinVar.1
Natural variantiVAR_00372062R → G in SRXY1. 1 Publication1
Natural variantiVAR_00372164M → I in SRXY1; alters interaction with DNA and DNA bending. 2 PublicationsCorresponds to variant dbSNP:rs104894969EnsemblClinVar.1
Natural variantiVAR_01729864M → R in SRXY1. 1 Publication1
Natural variantiVAR_01729967F → V in SRXY1. 1 Publication1
Natural variantiVAR_00372268I → T in SRXY1. 1 PublicationCorresponds to variant dbSNP:rs104894968EnsemblClinVar.1
Natural variantiVAR_07843375R → M in SRXY1; localizes mainly in the cytoplasm. 1 Publication1
Natural variantiVAR_01730076R → S in SRXY1. 1 Publication1
Natural variantiVAR_00372378M → T in SRXY1. 1 Publication1
Natural variantiVAR_01730187N → Y in SRXY1. 1 Publication1
Natural variantiVAR_00372490I → M in SRXY1. 3 PublicationsCorresponds to variant dbSNP:rs104894959EnsemblClinVar.1
Natural variantiVAR_00372591S → G in SRXY1. 1 Publication1
Natural variantiVAR_01730295G → E in SRXY1. 1 PublicationCorresponds to variant dbSNP:rs104894972EnsemblClinVar.1
Natural variantiVAR_00372695G → R in SRXY1. 1 PublicationCorresponds to variant dbSNP:rs104894974EnsemblClinVar.1
Natural variantiVAR_003727101L → H in SRXY1. 1 Publication1
Natural variantiVAR_003728106K → I in SRXY1. 1 PublicationCorresponds to variant dbSNP:rs104894964EnsemblClinVar.1
Natural variantiVAR_003729108P → R in SRXY1. 1 Publication1
Natural variantiVAR_003730109F → S in SRXY1. 1 PublicationCorresponds to variant dbSNP:rs104894956EnsemblClinVar.1
Natural variantiVAR_003731113A → T in SRXY1. 1 PublicationCorresponds to variant dbSNP:rs104894966EnsemblClinVar.1
Natural variantiVAR_003732125P → L in SRXY1. 1 Publication1
Natural variantiVAR_003733127Y → C in SRXY1. 1 Publication1
Natural variantiVAR_017303127Y → F in SRXY1. 1 PublicationCorresponds to variant dbSNP:rs104894973EnsemblClinVar.1
Natural variantiVAR_017304131P → R in SRXY1. 1 Publication1
Natural variantiVAR_003734133R → W in SRXY1. 1 PublicationCorresponds to variant dbSNP:rs104894976EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
X53772 Genomic DNA Translation: CAA37790.1
L10101 mRNA Translation: AAA60590.1
L10102 Genomic DNA Translation: AAA60591.1
L08063 Genomic DNA Translation: AAA16878.1
X96421 Genomic DNA Translation: CAA65281.1
S53156 mRNA Translation: AAB25008.1
S56543 mRNA Translation: AAB25716.1
BC074923 mRNA Translation: AAH74923.1
BC074924 mRNA Translation: AAH74924.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS14772.1

Protein sequence database of the Protein Information Resource

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PIRi
A47533

NCBI Reference Sequences

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RefSeqi
NP_003131.1, NM_003140.2

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.1992

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000383070; ENSP00000372547; ENSG00000184895

Database of genes from NCBI RefSeq genomes

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GeneIDi
6736

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6736

UCSC genome browser

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UCSCi
uc004fqg.3 human

Keywords - Coding sequence diversityi

Chromosomal rearrangement

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Protein Spotlight

The tenuous nature of sex - Issue 80 of March 2007

Wikipedia

SRY entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X53772 Genomic DNA Translation: CAA37790.1
L10101 mRNA Translation: AAA60590.1
L10102 Genomic DNA Translation: AAA60591.1
L08063 Genomic DNA Translation: AAA16878.1
X96421 Genomic DNA Translation: CAA65281.1
S53156 mRNA Translation: AAB25008.1
S56543 mRNA Translation: AAB25716.1
BC074923 mRNA Translation: AAH74923.1
BC074924 mRNA Translation: AAH74924.1
CCDSiCCDS14772.1
PIRiA47533
RefSeqiNP_003131.1, NM_003140.2
UniGeneiHs.1992

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1HRYNMR-A56-131[»]
1HRZNMR-A56-131[»]
1J46NMR-A57-140[»]
1J47NMR-A57-140[»]
2GZKNMR-A56-130[»]
ProteinModelPortaliQ05066
SMRiQ05066
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112614, 19 interactors
IntActiQ05066, 1 interactor
MINTiQ05066
STRINGi9606.ENSP00000372547

PTM databases

iPTMnetiQ05066
PhosphoSitePlusiQ05066

Polymorphism and mutation databases

DMDMi548983

Proteomic databases

PaxDbiQ05066
PRIDEiQ05066
ProteomicsDBi58304

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
6736
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000383070; ENSP00000372547; ENSG00000184895
GeneIDi6736
KEGGihsa:6736
UCSCiuc004fqg.3 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
6736
DisGeNETi6736
EuPathDBiHostDB:ENSG00000184895.7

GeneCards: human genes, protein and diseases

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GeneCardsi
SRY
GeneReviewsiSRY
HGNCiHGNC:11311 SRY
MalaCardsiSRY
MIMi400044 phenotype
400045 phenotype
480000 gene
neXtProtiNX_Q05066
OpenTargetsiENSG00000184895
Orphaneti1772 45,X/46,XY mixed gonadal dysgenesis
2138 46,XX ovotesticular disorder of sex development
393 46,XX testicular disorder of sex development
242 46,XY complete gonadal dysgenesis
251510 46,XY partial gonadal dysgenesis
PharmGKBiPA36135

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0527 Eukaryota
ENOG410XT0K LUCA
GeneTreeiENSGT00940000165583
HOGENOMiHOG000008601
HOVERGENiHBG008712
InParanoidiQ05066
KOiK09266
OMAiDCTKATH
OrthoDBiEOG091G0JDD
PhylomeDBiQ05066

Enzyme and pathway databases

ReactomeiR-HSA-3769402 Deactivation of the beta-catenin transactivating complex
SignaLinkiQ05066
SIGNORiQ05066

Miscellaneous databases

EvolutionaryTraceiQ05066

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SRY

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
6736

Protein Ontology

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PROi
PR:Q05066

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000184895 Expressed in 43 organ(s), highest expression level in skin of abdomen
CleanExiHS_SRY
ExpressionAtlasiQ05066 baseline and differential
GenevisibleiQ05066 HS

Family and domain databases

Gene3Di1.10.30.10, 1 hit
InterProiView protein in InterPro
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
IPR017253 SRY
PANTHERiPTHR10270:SF199 PTHR10270:SF199, 1 hit
PfamiView protein in Pfam
PF00505 HMG_box, 1 hit
PIRSFiPIRSF037653 SRY, 1 hit
SMARTiView protein in SMART
SM00398 HMG, 1 hit
SUPFAMiSSF47095 SSF47095, 1 hit
PROSITEiView protein in PROSITE
PS50118 HMG_BOX_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSRY_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q05066
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 1, 1994
Last modified: December 5, 2018
This is version 194 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome Y
    Human chromosome Y: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  7. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
UniProt is an ELIXIR core data resource
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