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UniProtKB - P41225 (SOX3_HUMAN)

Entry version 164 (26 Feb 2020)
Sequence version 2 (07 Jun 2004)
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Protein

Transcription factor SOX-3

Gene

SOX3

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

Transcription factor required during the formation of the hypothalamo-pituitary axis. May function as a switch in neuronal development. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation. Required also within the pharyngeal epithelia for craniofacial morphogenesis. Controls a genetic switch in male development. Is necessary for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (By similarity).By similarity1 Publication

Caution

Was originally termed SOX-9.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 bindingi139 – 207HMG 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 functionDevelopmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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

SIGNOR Signaling Network Open Resource

More...SIGNORi		P41225

<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%5Fand%5Ftaxonomy%5Fsection">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:
Transcription factor SOX-3
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:SOX3
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 X

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:11199 SOX3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		313430 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P41225

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

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

Panhypopituitarism X-linked (PHPX)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAffected individuals have absent infundibulum, anterior pituitary hypoplasia, and ectopic posterior pituitary.
Related information in OMIM
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_026452248A → AAAAAAAA in PHPX; reduced transcriptional activity and impaired nuclear localization. 1 Publication1
Mental retardation, X-linked, with isolated growth hormone deficiency (MRXGH)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by the association of variable degrees of mental retardation with panhypopituitarism, variable combinations of hypothyroidism, delayed pubertal development, and short stature due to growth hormone deficiency.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033258248A → AAAAAAAAAAAA in MRXGH. 1 Publication1
46,XX sex reversal 3 (SRXX3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. Copy number variations (CNV) encompassing or in close proximity to SOX3 are responsible for XX male reversal. These variations include two duplications of approximately 123 kb and 85 kb, the former of which spans the entire SOX3 gene; a 343 kb deletion immediately upstream of SOX3 that is probably responsible of altered regulation (and not increased dosage) of SOX3; a large (approximately 6 Mb) duplication that encompasses SOX3 and at least 18 additional distally located genes. Its proximal breakpoint falls within the SOX3 regulatory region. This large rearrangement has been found in a patient with XX male reversal and a complex phenotype that also includes a scrotal hypoplasia, microcephaly, developmental delay, and growth retardation.
Disease descriptionA condition in which male gonads develop in a genetic female (female to male sex reversal).
Related information in OMIM
Hypoparathyroidism, X-linked (HYPX)1 Publication
The gene represented in this entry may be involved in disease pathogenesis. A disease causing, complex chromosomal rearrangement [del(X)(q27.1)inv ins(X;2)(q27.1;p25.3)] has been found in a family with X-linked hypoparathyroidism. This chromosomal abnormality is located 67 kb downstream of SOX3 and likely results in altered SOX3 expression with pathological consequences.1 Publication
Disease descriptionA X-linked form of true hypoparathyroidism characterized by neonatal or infantile onset and absence of parathyroid glands. Clinical features are hypocalcemia, hyperphosphatemia, seizures, tetany and cramps.
Related information in OMIM

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		6658

MalaCards human disease database

More...MalaCardsi		SOX3
MIMi300123 phenotype
300833 phenotype
307700 phenotype
312000 phenotype

Open Targets

More...OpenTargetsi		ENSG00000134595

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

More...Orphaneti		393 46,XX testicular disorder of sex development
90695 Panhypopituitarism
3157 Septo-optic dysplasia spectrum
79495 X-linked congenital generalized hypertrichosis
67045 X-linked intellectual disability with isolated growth hormone deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA36036

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P41225 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SOX3

Domain mapping of disease mutations (DMDM)

More...DMDMi		48429228

<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_00000487201 – 446Transcription factor SOX-3Add BLAST446

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P41225

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P41225

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P41225

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

More...PaxDbi		P41225

PeptideAtlas

More...PeptideAtlasi		P41225

PRoteomics IDEntifications database

More...PRIDEi		P41225

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		55433

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P41225

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

More...PhosphoSitePlusi		P41225

<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

More...Bgeei		ENSG00000134595 Expressed in oviduct epithelium and 42 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P41225 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA054720
HPA075003

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with SOX2 and FGFR1.

By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		112541, 13 interactors

Protein interaction database and analysis system

More...IntActi		P41225, 3 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000359567

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P41225 protein

<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

3D structure databases

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

More...SMRi		P41225

Database of comparative protein structure models

More...ModBasei		Search...

<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

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi129 – 133Poly-Gly5
Compositional biasi234 – 248Poly-AlaAdd BLAST15
Compositional biasi290 – 294Poly-Pro5
Compositional biasi324 – 330Poly-Ala7
Compositional biasi340 – 347Poly-Ala8
Compositional biasi353 – 364Poly-AlaAdd BLAST12

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0527 Eukaryota
ENOG410XT0K LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000162359

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_021123_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P41225

KEGG Orthology (KO)

More...KOi		K09267

Identification of Orthologs from Complete Genome Data

More...OMAi		ALPPMHR

Database of Orthologous Groups

More...OrthoDBi		1245523at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P41225

TreeFam database of animal gene trees

More...TreeFami		TF351735

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.30.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
IPR022097 SOX_fam

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00505 HMG_box, 1 hit
PF12336 SOXp, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00398 HMG, 1 hit

Superfamily database of structural and functional annotation

More...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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

P41225-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MRPVRENSSG ARSPRVPADL ARSILISLPF PPDSLAHRPP SSAPTESQGL 
        60         70         80         90        100
FTVAAPAPGA PSPPATLAHL LPAPAMYSLL ETELKNPVGT PTQAAGTGGP 
       110        120        130        140        150
AAPGGAGKSS ANAAGGANSG GGSSGGASGG GGGTDQDRVK RPMNAFMVWS 
       160        170        180        190        200
RGQRRKMALE NPKMHNSEIS KRLGADWKLL TDAEKRPFID EAKRLRAVHM 
       210        220        230        240        250
KEYPDYKYRP RRKTKTLLKK DKYSLPSGLL PPGAAAAAAA AAAAAAAASS 
       260        270        280        290        300
PVGVGQRLDT YTHVNGWANG AYSLVQEQLG YAQPPSMSSP PPPPALPPMH 
       310        320        330        340        350
RYDMAGLQYS PMMPPGAQSY MNVAAAAAAA SGYGGMAPSA TAAAAAAYGQ 
       360        370        380        390        400
QPATAAAAAA AAAAMSLGPM GSVVKSEPSS PPPAIASHSQ RACLGDLRDM 
       410        420        430        440 
ISMYLPPGGD AADAASPLPG GRLHGVHQHY QGAGTAVNGT VPLTHI
Length:446
Mass (Da):45,210
Last modified:June 7, 2004 - v2
<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:iF79E79C2D16BB929
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti159L → Q in CAA46616 (PubMed:1614875).Curated1
Sequence conflicti176D → E in CAA46616 (PubMed:1614875).Curated1
Sequence conflicti202E → D in CAA46616 (PubMed:1614875).Curated1
Sequence conflicti297 – 299Missing in CAA50465 (Ref. 2) Curated3

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02645143A → T1 PublicationCorresponds to variant dbSNP:rs73637709EnsemblClinVar.1
Natural variantiVAR_026452248A → AAAAAAAA in PHPX; reduced transcriptional activity and impaired nuclear localization. 1 Publication1
Natural variantiVAR_033258248A → AAAAAAAAAAAA in MRXGH. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
X71135 Genomic DNA Translation: CAA50465.1
AF264713 Genomic DNA Translation: AAF73059.1
AL121875 Genomic DNA No translation available.
BC093863 mRNA Translation: AAH93863.1
BC093865 mRNA Translation: AAH93865.1
X65665 mRNA Translation: CAA46616.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS14669.1

Protein sequence database of the Protein Information Resource

More...PIRi		I38239
S22942

NCBI Reference Sequences

More...RefSeqi		NP_005625.2, NM_005634.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000370536; ENSP00000359567; ENSG00000134595

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6658

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6658

UCSC genome browser

More...UCSCi		uc004fbd.2 human

Keywords - Coding sequence diversityi

Polymorphism

<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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X71135 Genomic DNA Translation: CAA50465.1
AF264713 Genomic DNA Translation: AAF73059.1
AL121875 Genomic DNA No translation available.
BC093863 mRNA Translation: AAH93863.1
BC093865 mRNA Translation: AAH93865.1
X65665 mRNA Translation: CAA46616.1
CCDSiCCDS14669.1
PIRiI38239
S22942
RefSeqiNP_005625.2, NM_005634.2

3D structure databases

SMRiP41225
ModBaseiSearch...

Protein-protein interaction databases

BioGridi112541, 13 interactors
IntActiP41225, 3 interactors
STRINGi9606.ENSP00000359567

PTM databases

iPTMnetiP41225
PhosphoSitePlusiP41225

Polymorphism and mutation databases

BioMutaiSOX3
DMDMi48429228

Proteomic databases

EPDiP41225
jPOSTiP41225
MassIVEiP41225
PaxDbiP41225
PeptideAtlasiP41225
PRIDEiP41225
ProteomicsDBi55433

Genome annotation databases

EnsembliENST00000370536; ENSP00000359567; ENSG00000134595
GeneIDi6658
KEGGihsa:6658
UCSCiuc004fbd.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6658
DisGeNETi6658

GeneCards: human genes, protein and diseases

More...GeneCardsi		SOX3
HGNCiHGNC:11199 SOX3
HPAiHPA054720
HPA075003
MalaCardsiSOX3
MIMi300123 phenotype
300833 phenotype
307700 phenotype
312000 phenotype
313430 gene
neXtProtiNX_P41225
OpenTargetsiENSG00000134595
Orphaneti393 46,XX testicular disorder of sex development
90695 Panhypopituitarism
3157 Septo-optic dysplasia spectrum
79495 X-linked congenital generalized hypertrichosis
67045 X-linked intellectual disability with isolated growth hormone deficiency
PharmGKBiPA36036

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0527 Eukaryota
ENOG410XT0K LUCA
GeneTreeiENSGT00940000162359
HOGENOMiCLU_021123_0_0_1
InParanoidiP41225
KOiK09267
OMAiALPPMHR
OrthoDBi1245523at2759
PhylomeDBiP41225
TreeFamiTF351735

Enzyme and pathway databases

ReactomeiR-HSA-3769402 Deactivation of the beta-catenin transactivating complex
SIGNORiP41225

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SOX3

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

More...GenomeRNAii		6658
PharosiP41225 Tbio

Protein Ontology

More...PROi		PR:P41225
RNActiP41225 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000134595 Expressed in oviduct epithelium and 42 other tissues
GenevisibleiP41225 HS

Family and domain databases

Gene3Di1.10.30.10, 1 hit
InterProiView protein in InterPro
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
IPR022097 SOX_fam
PfamiView protein in Pfam
PF00505 HMG_box, 1 hit
PF12336 SOXp, 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

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiSOX3_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: P41225
Secondary accession number(s): P35714, Q5JWI3, Q9NP49
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: June 7, 2004
Last modified: February 26, 2020
This is version 164 of the entry and version 2 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

Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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