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UniProtKB - P35711 (SOX5_HUMAN)

Entry version 184 (07 Oct 2020)
Sequence version 3 (23 Apr 2003)
Previous versions | rss
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Protein

Transcription factor SOX-5

Gene

SOX5

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 involved in chondrocytes differentiation and cartilage formation. Specifically binds the 5'-AACAAT-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis, including cartilage matrix protein-coding genes, such as COL2A1 and AGC1. Required for overt chondrogenesis when condensed prechondrocytes differentiate into early stage chondrocytes: SOX5 and SOX6 cooperatively bind with SOX9 on active enhancers and super-enhancers associated with cartilage-specific genes, and thereby potentiate SOX9's ability to transactivate. Not involved in precartilaginous condensation, the first step in chondrogenesis, during which skeletal progenitors differentiate into prechondrocytes. Together with SOX6, required to form and maintain a pool of highly proliferating chondroblasts between epiphyses and metaphyses, to form columnar chondroblasts, delay chondrocyte prehypertrophy but promote hypertrophy, and to delay terminal differentiation of chondrocytes on contact with ossification fronts. Binds to the proximal promoter region of the myelin protein MPZ gene.By similarity

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 bindingi556 – 624HMG 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 functionActivator, DNA-binding
Biological processDifferentiation, Transcription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P35711

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

More...SignaLinki		P35711

SIGNOR Signaling Network Open Resource

More...SIGNORi		P35711

<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-5Curated
<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:SOX51 PublicationImported
<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 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000134532.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:11201, SOX5

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		604975, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P35711

<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

Lamb-Shaffer syndrome (LAMSHF)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant, neurodevelopmental disorder characterized by global developmental delay, intellectual disability, language and motor impairment, and distinct facial features. Additional variable skeletal abnormalities may also be present.
Related information in OMIM

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		6660

MalaCards human disease database

More...MalaCardsi		SOX5
MIMi616803, phenotype

Open Targets

More...OpenTargetsi		ENSG00000134532

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

More...Orphaneti		313884, 12p12.1 microdeletion syndrome
313892, Developmental and speech delay due to SOX5 deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA36038

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P35711, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SOX5

Domain mapping of disease mutations (DMDM)

More...DMDMi		30179883

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000487261 – 763Transcription factor SOX-5Add BLAST763

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 residuei21PhosphoserineCombined sources1
Modified residuei131PhosphothreonineCombined sources1
Modified residuei370PhosphoserineCombined sources1
Modified residuei372PhosphothreonineCombined sources1
Modified residuei411PhosphoserineCombined sources1
Modified residuei414PhosphoserineCombined sources1
Modified residuei439PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P35711

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P35711

MaxQB - The MaxQuant DataBase

More...MaxQBi		P35711

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

More...PaxDbi		P35711

PeptideAtlas

More...PeptideAtlasi		P35711

PRoteomics IDEntifications database

More...PRIDEi		P35711

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		26824
55137 [P35711-1]
55138 [P35711-2]
55139 [P35711-3]
55140 [P35711-4]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		P35711-1 [P35711-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P35711

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

More...PhosphoSitePlusi		P35711

<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		ENSG00000134532, Expressed in cortical plate and 185 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P35711, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P35711, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000134532, Tissue enriched (testis)

<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

Forms homodimers and heterodimers with SOX6.

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		112543, 44 interactors

Protein interaction database and analysis system

More...IntActi		P35711, 43 interactors

Molecular INTeraction database

More...MINTi		P35711

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000398273

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P35711, 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

Biological Magnetic Resonance Data Bank

More...BMRBi		P35711

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

More...SMRi		P35711

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

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili193 – 274Sequence analysisAdd BLAST82
Coiled coili448 – 515Sequence analysisAdd BLAST68

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0528, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156122

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_018522_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P35711

KEGG Orthology (KO)

More...KOi		K09269

Identification of Orthologs from Complete Genome Data

More...OMAi		THPQSDK

Database of Orthologous Groups

More...OrthoDBi		465521at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P35711

TreeFam database of animal gene trees

More...TreeFami		TF320471

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
IPR027153, SOX-5/6

The PANTHER Classification System

More...PANTHERi		PTHR45789:SF1, PTHR45789:SF1, 2 hits

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00505, HMG_box, 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>Sequences (5+)i

<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.

This entry describes 5 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P35711-1) [UniParc]FASTAAdd to basket
Also known as: L-SOX5A1 Publication

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLTDPDLPQE FERMSSKRPA SPYGEADGEV AMVTSRQKVE EEESDGLPAF 
        60         70         80         90        100
HLPLHVSFPN KPHSEEFQPV SLLTQETCGH RTPTSQHNTM EVDGNKVMSS 
       110        120        130        140        150
FAPHNSSTSP QKAEEGGRQS GESLSSTALG TPERRKGSLA DVVDTLKQRK 
       160        170        180        190        200
MEELIKNEPE ETPSIEKLLS KDWKDKLLAM GSGNFGEIKG TPESLAEKER 
       210        220        230        240        250
QLMGMINQLT SLREQLLAAH DEQKKLAASQ IEKQRQQMEL AKQQQEQIAR 
       260        270        280        290        300
QQQQLLQQQH KINLLQQQIQ VQGQLPPLMI PVFPPDQRTL AAAAQQGFLL 
       310        320        330        340        350
PPGFSYKAGC SDPYPVQLIP TTMAAAAAAT PGLGPLQLQQ LYAAQLAAMQ 
       360        370        380        390        400
VSPGGKLPGI PQGNLGAAVS PTSIHTDKST NSPPPKSKDE VAQPLNLSAK 
       410        420        430        440        450
PKTSDGKSPT SPTSPHMPAL RINSGAGPLK ASVPAALASP SARVSTIGYL 
       460        470        480        490        500
NDHDAVTKAI QEARQMKEQL RREQQVLDGK VAVVNSLGLN NCRTEKEKTT 
       510        520        530        540        550
LESLTQQLAV KQNEEGKFSH AMMDFNLSGD SDGSAGVSES RIYRESRGRG 
       560        570        580        590        600
SNEPHIKRPM NAFMVWAKDE RRKILQAFPD MHNSNISKIL GSRWKAMTNL 
       610        620        630        640        650
EKQPYYEEQA RLSKQHLEKY PDYKYKPRPK RTCLVDGKKL RIGEYKAIMR 
       660        670        680        690        700
NRRQEMRQYF NVGQQAQIPI ATAGVVYPGA IAMAGMPSPH LPSEHSSVSS 
       710        720        730        740        750
SPEPGMPVIQ STYGVKGEEP HIKEEIQAED INGEIYDEYD EEEDDPDVDY 
       760 
GSDSENHIAG QAN
Length:763
Mass (Da):84,026
Last modified:April 23, 2003 - v3
<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:i02B5B13429A59CAA
GO
Isoform 2 (identifier: P35711-2) [UniParc]FASTAAdd to basket
Also known as: L-SOX5B1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     1-13: Missing.

Show »
Length:750
Mass (Da):82,453
Checksum:iF8152F0BD72E6734
GO
Isoform 3 (identifier: P35711-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-386: Missing.
     387-388: SK → MH

Show »
Length:377
Mass (Da):41,990
Checksum:iA4B74A55C2E44E9A
GO
Isoform 4 (identifier: P35711-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-13: Missing.
     388-495: Missing.

Show »
Length:642
Mass (Da):71,044
Checksum:i1F142CAF87059BAA
GO
Isoform 5 (identifier: P35711-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-13: MLTDPDLPQEFER → MSV

Show »
Length:753
Mass (Da):82,770
Checksum:i57F018BA2D8B901E
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H0I3F5H0I3_HUMAN
Transcription factor SOX-5
SOX5
728Annotation score:

Annotation score:2 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>
F5H876F5H876_HUMAN
Transcription factor SOX-5
SOX5
241Annotation score:

Annotation score:1 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>
I3L0A5I3L0A5_HUMAN
Transcription factor SOX-5
SOX5
509Annotation score:

Annotation score:1 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>
A0A590UJ80A0A590UJ80_HUMAN
Transcription factor SOX-5
SOX5
203Annotation score:

Annotation score:1 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>
F5GWL1F5GWL1_HUMAN
Transcription factor SOX-5
SOX5
144Annotation score:

Annotation score:1 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>
G3V0H1G3V0H1_HUMAN
SRY (Sex determining region Y)-box ...
SOX5 hCG_1811069
128Annotation score:

Annotation score:1 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>
A0A2R8Y7P3A0A2R8Y7P3_HUMAN
Transcription factor SOX-5
SOX5
107Annotation score:

Annotation score:1 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>
A0A2R8Y5Q1A0A2R8Y5Q1_HUMAN
Transcription factor SOX-5
SOX5
57Annotation score:

Annotation score:1 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAB49537 differs from that shown. Reason: Erroneous initiation.Curated

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 conflicti276P → L in BAH14086 (PubMed:14702039).Curated1
Sequence conflicti295Q → H in BAB85048 (PubMed:14702039).Curated1
Sequence conflicti513N → S in BAB85048 (PubMed:14702039).Curated1
Sequence conflicti514E → Q in AAB49537 (PubMed:8812465).Curated1
Sequence conflicti545E → G in BAB85048 (PubMed:14702039).Curated1
Sequence conflicti754S → N in BAC05353 (PubMed:14702039).Curated1

Natural variant

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_065754362Q → P in a patient with amyotrophic lateral sclerosis. 1 PublicationCorresponds to variant dbSNP:rs144670919Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0072621 – 386Missing in isoform 3. 2 PublicationsAdd BLAST386
Alternative sequenceiVSP_0072611 – 13Missing in isoform 2 and isoform 4. 2 PublicationsAdd BLAST13
Alternative sequenceiVSP_0459971 – 13MLTDP…QEFER → MSV in isoform 5. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_007263387 – 388SK → MH in isoform 3. 2 Publications2
Alternative sequenceiVSP_007264388 – 495Missing in isoform 4. 1 PublicationAdd BLAST108

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
AB081588 mRNA Translation: BAC16233.1
AB081589 mRNA Translation: BAC16234.1
AB081590 Genomic DNA Translation: BAC16235.1
AB081591 Genomic DNA Translation: BAC16236.1
AK074317 mRNA Translation: BAB85048.1
AK098610 mRNA Translation: BAC05353.1
AK303970 mRNA Translation: BAH14086.1
AC087244 Genomic DNA No translation available.
AC087260 Genomic DNA No translation available.
AC087319 Genomic DNA No translation available.
AC092864 Genomic DNA No translation available.
BC029220 mRNA Translation: AAH29220.2
BC035227 mRNA Translation: AAH35227.1
BC047665 mRNA Translation: AAH47665.2
BC060773 mRNA Translation: AAH60773.1
S83308 mRNA Translation: AAB49537.1 Different initiation.
X65662 mRNA Translation: CAA46613.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS41761.1 [P35711-3]
CCDS44844.1 [P35711-2]
CCDS58216.1 [P35711-4]
CCDS58217.1 [P35711-5]
CCDS8699.1 [P35711-1]

Protein sequence database of the Protein Information Resource

More...PIRi		S22939

NCBI Reference Sequences

More...RefSeqi		NP_001248343.1, NM_001261414.2 [P35711-4]
NP_001248344.1, NM_001261415.2 [P35711-5]
NP_001317714.1, NM_001330785.1
NP_008871.3, NM_006940.5 [P35711-1]
NP_694534.1, NM_152989.4 [P35711-2]
NP_821078.1, NM_178010.3 [P35711-3]
XP_016875385.1, XM_017019896.1 [P35711-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000381381; ENSP00000370788; ENSG00000134532 [P35711-4]
ENST00000396007; ENSP00000379328; ENSG00000134532 [P35711-3]
ENST00000451604; ENSP00000398273; ENSG00000134532 [P35711-1]
ENST00000545921; ENSP00000443520; ENSG00000134532 [P35711-5]
ENST00000646273; ENSP00000493866; ENSG00000134532 [P35711-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6660

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6660

UCSC genome browser

More...UCSCi		uc001rfv.5, human [P35711-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
AB081588 mRNA Translation: BAC16233.1
AB081589 mRNA Translation: BAC16234.1
AB081590 Genomic DNA Translation: BAC16235.1
AB081591 Genomic DNA Translation: BAC16236.1
AK074317 mRNA Translation: BAB85048.1
AK098610 mRNA Translation: BAC05353.1
AK303970 mRNA Translation: BAH14086.1
AC087244 Genomic DNA No translation available.
AC087260 Genomic DNA No translation available.
AC087319 Genomic DNA No translation available.
AC092864 Genomic DNA No translation available.
BC029220 mRNA Translation: AAH29220.2
BC035227 mRNA Translation: AAH35227.1
BC047665 mRNA Translation: AAH47665.2
BC060773 mRNA Translation: AAH60773.1
S83308 mRNA Translation: AAB49537.1 Different initiation.
X65662 mRNA Translation: CAA46613.1
CCDSiCCDS41761.1 [P35711-3]
CCDS44844.1 [P35711-2]
CCDS58216.1 [P35711-4]
CCDS58217.1 [P35711-5]
CCDS8699.1 [P35711-1]
PIRiS22939
RefSeqiNP_001248343.1, NM_001261414.2 [P35711-4]
NP_001248344.1, NM_001261415.2 [P35711-5]
NP_001317714.1, NM_001330785.1
NP_008871.3, NM_006940.5 [P35711-1]
NP_694534.1, NM_152989.4 [P35711-2]
NP_821078.1, NM_178010.3 [P35711-3]
XP_016875385.1, XM_017019896.1 [P35711-2]

3D structure databases

BMRBiP35711
SMRiP35711
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi112543, 44 interactors
IntActiP35711, 43 interactors
MINTiP35711
STRINGi9606.ENSP00000398273

PTM databases

iPTMnetiP35711
PhosphoSitePlusiP35711

Polymorphism and mutation databases

BioMutaiSOX5
DMDMi30179883

Proteomic databases

jPOSTiP35711
MassIVEiP35711
MaxQBiP35711
PaxDbiP35711
PeptideAtlasiP35711
PRIDEiP35711
ProteomicsDBi26824
55137 [P35711-1]
55138 [P35711-2]
55139 [P35711-3]
55140 [P35711-4]
TopDownProteomicsiP35711-1 [P35711-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		12481, 222 antibodies

The DNASU plasmid repository

More...DNASUi		6660

Genome annotation databases

EnsembliENST00000381381; ENSP00000370788; ENSG00000134532 [P35711-4]
ENST00000396007; ENSP00000379328; ENSG00000134532 [P35711-3]
ENST00000451604; ENSP00000398273; ENSG00000134532 [P35711-1]
ENST00000545921; ENSP00000443520; ENSG00000134532 [P35711-5]
ENST00000646273; ENSP00000493866; ENSG00000134532 [P35711-4]
GeneIDi6660
KEGGihsa:6660
UCSCiuc001rfv.5, human [P35711-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6660
DisGeNETi6660
EuPathDBiHostDB:ENSG00000134532.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		SOX5
HGNCiHGNC:11201, SOX5
HPAiENSG00000134532, Tissue enriched (testis)
MalaCardsiSOX5
MIMi604975, gene
616803, phenotype
neXtProtiNX_P35711
OpenTargetsiENSG00000134532
Orphaneti313884, 12p12.1 microdeletion syndrome
313892, Developmental and speech delay due to SOX5 deficiency
PharmGKBiPA36038

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0528, Eukaryota
GeneTreeiENSGT00940000156122
HOGENOMiCLU_018522_0_0_1
InParanoidiP35711
KOiK09269
OMAiTHPQSDK
OrthoDBi465521at2759
PhylomeDBiP35711
TreeFamiTF320471

Enzyme and pathway databases

PathwayCommonsiP35711
SignaLinkiP35711
SIGNORiP35711

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		6660, 10 hits in 895 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SOX5, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SOX5

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

More...GenomeRNAii		6660
PharosiP35711, Tbio

Protein Ontology

More...PROi		PR:P35711
RNActiP35711, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000134532, Expressed in cortical plate and 185 other tissues
ExpressionAtlasiP35711, baseline and differential
GenevisibleiP35711, HS

Family and domain databases

Gene3Di1.10.30.10, 1 hit
InterProiView protein in InterPro
IPR009071, HMG_box_dom
IPR036910, HMG_box_dom_sf
IPR027153, SOX-5/6
PANTHERiPTHR45789:SF1, PTHR45789:SF1, 2 hits
PfamiView protein in Pfam
PF00505, HMG_box, 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 nameiSOX5_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: P35711
Secondary accession number(s): B7Z8V0
, F5H5B0, Q86UK8, Q8J017, Q8J018, Q8J019, Q8J020, Q8N1D9, Q8N7E0, Q8TEA4
<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: June 1, 1994
Last sequence update: April 23, 2003
Last modified: October 7, 2020
This is version 184 of the entry and version 3 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 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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