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UniProtKB - P35712 (SOX6_HUMAN)

Entry version 192 (25 May 2022)
Sequence version 3 (25 Nov 2008)
Previous versions | rss
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Protein

Transcription factor SOX-6

Gene

SOX6

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 that plays a key role in several developmental processes, including neurogenesis, chondrocytes differentiation and cartilage formation (Probable). Specifically binds the 5'-AACAAT-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis. 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 SOX5, 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, and is thereby involved in the differentiation of oligodendroglia in the developing spinal tube. Binds to the gene promoter of MBP and acts as a transcriptional repressor (By similarity).

By similarity1 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 bindingi621 – 689HMG 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, Developmental protein, DNA-binding, Repressor
Biological processDifferentiation, Transcription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P35712

Reactome - a knowledgebase of biological pathways and processes

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

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

More...SignaLinki		P35712

SIGNOR Signaling Network Open Resource

More...SIGNORi		P35712

<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-6Curated
<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:SOX61 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 11

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:16421, SOX6

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607257, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P35712

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000110693

<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

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

Tolchin-Le Caignec syndrome (TOLCAS)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by mildly to moderately impaired intellectual development and behavioral problems, such as autism, attention deficit and hyperactivity disorder, and aggressive episodes. Highly variable, additional features include osteochondroma, craniosynostosis, dysmorphic facies, arachnodactyly, and large head circumference.
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_08473981 – 828Missing in TOLCAS. 1 PublicationAdd BLAST748
Natural variantiVAR_08474093 – 828Missing in TOLCAS. 1 PublicationAdd BLAST736
Natural variantiVAR_08474198 – 828Missing in TOLCAS. 1 PublicationAdd BLAST731
Natural variantiVAR_084742161W → C in TOLCAS; unknown pathological significance. 1 Publication1
Natural variantiVAR_084743240 – 828Missing in TOLCAS. 1 PublicationAdd BLAST589
Natural variantiVAR_084744625M → T in TOLCAS; unknown pathological significance. 1 Publication1
Natural variantiVAR_084745659W → R in TOLCAS; unknown pathological significance. 1 Publication1
Natural variantiVAR_084746766S → L in TOLCAS; unknown pathological significance. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'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>Mutagenesisi404K → R: Partial loss of sumoylation. Complete loss of sumoylation; when associated with R-417. 1 Publication1
Mutagenesisi417K → R: Partial loss of sumoylation. Complete loss of sumoylation; when associated with R-404. 1 Publication1

Keywords - Diseasei

Autism spectrum disorder, Disease variant, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		55553

MalaCards human disease database

More...MalaCardsi		SOX6
MIMi618971, phenotype

Open Targets

More...OpenTargetsi		ENSG00000110693

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA38137

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P35712, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SOX6

Domain mapping of disease mutations (DMDM)

More...DMDMi		215274178

<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_00000487291 – 828Transcription factor SOX-6Add BLAST828

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 residuei119PhosphothreonineCombined sources1
Modified residuei399PhosphoserineCombined sources1
Modified residuei401PhosphothreonineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki404Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
Cross-linki417Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
Modified residuei439PhosphoserineCombined sources1
Modified residuei442PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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

Sumoylation inhibits the transcriptional activity.1 Publication

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P35712

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P35712

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P35712

MaxQB - The MaxQuant DataBase

More...MaxQBi		P35712

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

More...PaxDbi		P35712

PeptideAtlas

More...PeptideAtlasi		P35712

PRoteomics IDEntifications database

More...PRIDEi		P35712

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		55141 [P35712-1]
55142 [P35712-2]
55143 [P35712-3]
55144 [P35712-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P35712

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

More...PhosphoSitePlusi		P35712

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in a wide variety of tissues, most abundantly in skeletal musclen.1 Publication

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed in many prospective brain structures of fetuses (at protein level). Highly expressed in the developing brain with higher expression in the ganglionic eminence, the amygdaloid complex, and the hippocampus. The expression declines in all brain structures in the final stages of gestation and in the neonatal period, such that it is already as low in infants as in adults.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000110693, Expressed in intestine and 194 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P35712, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P35712, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000110693, Tissue enhanced (bone)

<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

Homodimer (By similarity).

Interacts with DAZAP2 (By similarity). May interact with CENPK (By similarity).

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

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		120714, 14 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		P35712

Protein interaction database and analysis system

More...IntActi		P35712, 141 interactors

Molecular INTeraction database

More...MINTi		P35712

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000379644

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P35712, 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

AlphaFold Protein Structure Database

More...AlphaFoldDBi		P35712

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

More...SMRi		P35712

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

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>Regioni1 – 51DisorderedSequence analysisAdd BLAST51
Regioni380 – 470DisorderedSequence analysisAdd BLAST91
Regioni753 – 828DisorderedSequence analysisAdd BLAST76

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 coili184 – 262Sequence analysisAdd BLAST79

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 type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi21 – 37Basic and acidic residuesSequence analysisAdd BLAST17
Compositional biasi380 – 410Polar residuesSequence analysisAdd BLAST31
Compositional biasi426 – 470Polar residuesSequence analysisAdd BLAST45
Compositional biasi753 – 785Polar residuesSequence analysisAdd BLAST33
Compositional biasi798 – 813Acidic residuesSequence analysisAdd BLAST16

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0528, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156433

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_018522_0_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P35712

Identification of Orthologs from Complete Genome Data

More...OMAi		GDKAMNG

Database of Orthologous Groups

More...OrthoDBi		465521at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P35712

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-6

The PANTHER Classification System

More...PANTHERi		PTHR45789:SF1, PTHR45789:SF1, 1 hit

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 (4+)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 4 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P35712-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><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
MSSKQATSPF ACAADGEDAM TQDLTSREKE EGSDQHVASH LPLHPIMHNK 
        60         70         80         90        100
PHSEELPTLV STIQQDADWD SVLSSQQRME SENNKLCSLY SFRNTSTSPH 
       110        120        130        140        150
KPDEGSRDRE IMTSVTFGTP ERRKGSLADV VDTLKQKKLE EMTRTEQEDS 
       160        170        180        190        200
SCMEKLLSKD WKEKMERLNT SELLGEIKGT PESLAEKERQ LSTMITQLIS 
       210        220        230        240        250
LREQLLAAHD EQKKLAASQI EKQRQQMDLA RQQQEQIARQ QQQLLQQQHK 
       260        270        280        290        300
INLLQQQIQV QGHMPPLMIP IFPHDQRTLA AAAAAQQGFL FPPGITYKPG 
       310        320        330        340        350
DNYPVQFIPS TMAAAAASGL SPLQLQKGHV SHPQINQRLK GLSDRFGRNL 
       360        370        380        390        400
DTFEHGGGHS YNHKQIEQLY AAQLASMQVS PGAKMPSTPQ PPNTAGTVSP 
       410        420        430        440        450
TGIKNEKRGT SPVTQVKDEA AAQPLNLSSR PKTAEPVKSP TSPTQNLFPA 
       460        470        480        490        500
SKTSPVNLPN KSSIPSPIGG SLGRGSSLDI LSSLNSPALF GDQDTVMKAI 
       510        520        530        540        550
QEARKMREQI QREQQQQQPH GVDGKLSSIN NMGLNSCRNE KERTRFENLG 
       560        570        580        590        600
PQLTGKSNED GKLGPGVIDL TRPEDAEGSK AMNGSAAKLQ QYYCWPTGGA 
       610        620        630        640        650
TVAEARVYRD ARGRASSEPH IKRPMNAFMV WAKDERRKIL QAFPDMHNSN 
       660        670        680        690        700
ISKILGSRWK SMSNQEKQPY YEEQARLSKI HLEKYPNYKY KPRPKRTCIV 
       710        720        730        740        750
DGKKLRIGEY KQLMRSRRQE MRQFFTVGQQ PQIPITTGTG VVYPGAITMA 
       760        770        780        790        800
TTTPSPQMTS DCSSTSASPE PSLPVIQSTY GMKTDGGSLA GNEMINGEDE 
       810        820 
MEMYDDYEDD PKSDYSSENE APEAVSAN
Length:828
Mass (Da):91,921
Last modified:November 25, 2008 - 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:i38CA781528C839CF
GO
Isoform 2 (identifier: P35712-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MGRM
     327-367: Missing.
     477-477: S → SLGKWKSQHQEETYE

Show »
Length:804
Mass (Da):89,332
Checksum:i9280E8989FDCFFEE
GO
Isoform 3 (identifier: P35712-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     578-597: Missing.

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Length:808
Mass (Da):89,735
Checksum:i93969BB5B2C71036
GO
Isoform 4 (identifier: P35712-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     327-367: Missing.
     477-477: S → SLGKWKSQHQEETYE

Show »
Length:801
Mass (Da):88,988
Checksum:iA9B101C9C38D0D84
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PQ67E9PQ67_HUMAN
Transcription factor SOX-6
SOX6
79Annotation 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>
E9PN02E9PN02_HUMAN
Transcription factor SOX-6
SOX6
139Annotation 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>
E9PQL4E9PQL4_HUMAN
Transcription factor SOX-6
SOX6
159Annotation 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>
E9PQ78E9PQ78_HUMAN
Transcription factor SOX-6
SOX6
159Annotation 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 BC037866 differs from that shown. Reason: Frameshift.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 conflicti330V → A in AAK26115 (PubMed:11255018).Curated1
Sequence conflicti633K → R in CAA46614 (PubMed:1614875).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08473981 – 828Missing in TOLCAS. 1 PublicationAdd BLAST748
Natural variantiVAR_08474093 – 828Missing in TOLCAS. 1 PublicationAdd BLAST736
Natural variantiVAR_08474198 – 828Missing in TOLCAS. 1 PublicationAdd BLAST731
Natural variantiVAR_084742161W → C in TOLCAS; unknown pathological significance. 1 Publication1
Natural variantiVAR_084743240 – 828Missing in TOLCAS. 1 PublicationAdd BLAST589
Natural variantiVAR_084744625M → T in TOLCAS; unknown pathological significance. 1 Publication1
Natural variantiVAR_084745659W → R in TOLCAS; unknown pathological significance. 1 Publication1
Natural variantiVAR_084746766S → L in TOLCAS; unknown pathological significance. 1 Publication1

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_0396931M → MGRM in isoform 2. 1 Publication1
Alternative sequenceiVSP_039694327 – 367Missing in isoform 2 and isoform 4. 2 PublicationsAdd BLAST41
Alternative sequenceiVSP_039695477S → SLGKWKSQHQEETYE in isoform 2 and isoform 4. 2 Publications1
Alternative sequenceiVSP_039696578 – 597Missing in isoform 3. 1 PublicationAdd BLAST20

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
AF309034 mRNA Translation: AAK26115.1
AF309476 AF309475 Genomic DNA Translation: AAK26243.1
AF309476 AF309475 Genomic DNA Translation: AAK26244.1
AL136780 mRNA Translation: CAB66714.1
AC009869 Genomic DNA No translation available.
AC013595 Genomic DNA No translation available.
AC027016 Genomic DNA No translation available.
AC068405 Genomic DNA No translation available.
AC103794 Genomic DNA No translation available.
CH471064 Genomic DNA Translation: EAW68458.1
BC037866 mRNA No translation available.
BC047064 mRNA Translation: AAH47064.2
X65663 mRNA Translation: CAA46614.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS53604.1 [P35712-4]
CCDS53605.1 [P35712-4]
CCDS7821.1 [P35712-3]

NCBI Reference Sequences

More...RefSeqi		NP_001139283.1, NM_001145811.1 [P35712-4]
NP_001139291.1, NM_001145819.1 [P35712-1]
NP_059978.1, NM_017508.2 [P35712-4]
NP_201583.2, NM_033326.3 [P35712-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000316399.10; ENSP00000324948.6; ENSG00000110693.19 [P35712-3]
ENST00000396356.7; ENSP00000379644.3; ENSG00000110693.19 [P35712-3]
ENST00000527619.6; ENSP00000434455.2; ENSG00000110693.19 [P35712-4]
ENST00000528252.5; ENSP00000432134.1; ENSG00000110693.19 [P35712-4]
ENST00000528429.5; ENSP00000433233.1; ENSG00000110693.19
ENST00000655819.1; ENSP00000499737.1; ENSG00000110693.19 [P35712-2]
ENST00000683767.1; ENSP00000507545.1; ENSG00000110693.19

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55553

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55553

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000683767.1; ENSP00000507545.1; NM_001367873.1; NP_001354802.1

UCSC genome browser

More...UCSCi		uc001mmd.4, human [P35712-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AF309034 mRNA Translation: AAK26115.1
AF309476 AF309475 Genomic DNA Translation: AAK26243.1
AF309476 AF309475 Genomic DNA Translation: AAK26244.1
AL136780 mRNA Translation: CAB66714.1
AC009869 Genomic DNA No translation available.
AC013595 Genomic DNA No translation available.
AC027016 Genomic DNA No translation available.
AC068405 Genomic DNA No translation available.
AC103794 Genomic DNA No translation available.
CH471064 Genomic DNA Translation: EAW68458.1
BC037866 mRNA No translation available.
BC047064 mRNA Translation: AAH47064.2
X65663 mRNA Translation: CAA46614.1
CCDSiCCDS53604.1 [P35712-4]
CCDS53605.1 [P35712-4]
CCDS7821.1 [P35712-3]
RefSeqiNP_001139283.1, NM_001145811.1 [P35712-4]
NP_001139291.1, NM_001145819.1 [P35712-1]
NP_059978.1, NM_017508.2 [P35712-4]
NP_201583.2, NM_033326.3 [P35712-3]

3D structure databases

AlphaFoldDBiP35712
SMRiP35712
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi120714, 14 interactors
ELMiP35712
IntActiP35712, 141 interactors
MINTiP35712
STRINGi9606.ENSP00000379644

PTM databases

iPTMnetiP35712
PhosphoSitePlusiP35712

Genetic variation databases

BioMutaiSOX6
DMDMi215274178

Proteomic databases

EPDiP35712
jPOSTiP35712
MassIVEiP35712
MaxQBiP35712
PaxDbiP35712
PeptideAtlasiP35712
PRIDEiP35712
ProteomicsDBi55141 [P35712-1]
55142 [P35712-2]
55143 [P35712-3]
55144 [P35712-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		1097, 287 antibodies from 32 providers

The DNASU plasmid repository

More...DNASUi		55553

Genome annotation databases

EnsembliENST00000316399.10; ENSP00000324948.6; ENSG00000110693.19 [P35712-3]
ENST00000396356.7; ENSP00000379644.3; ENSG00000110693.19 [P35712-3]
ENST00000527619.6; ENSP00000434455.2; ENSG00000110693.19 [P35712-4]
ENST00000528252.5; ENSP00000432134.1; ENSG00000110693.19 [P35712-4]
ENST00000528429.5; ENSP00000433233.1; ENSG00000110693.19
ENST00000655819.1; ENSP00000499737.1; ENSG00000110693.19 [P35712-2]
ENST00000683767.1; ENSP00000507545.1; ENSG00000110693.19
GeneIDi55553
KEGGihsa:55553
MANE-SelectiENST00000683767.1; ENSP00000507545.1; NM_001367873.1; NP_001354802.1
UCSCiuc001mmd.4, human [P35712-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55553
DisGeNETi55553

GeneCards: human genes, protein and diseases

More...GeneCardsi		SOX6
HGNCiHGNC:16421, SOX6
HPAiENSG00000110693, Tissue enhanced (bone)
MalaCardsiSOX6
MIMi607257, gene
618971, phenotype
neXtProtiNX_P35712
OpenTargetsiENSG00000110693
PharmGKBiPA38137
VEuPathDBiHostDB:ENSG00000110693

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0528, Eukaryota
GeneTreeiENSGT00940000156433
HOGENOMiCLU_018522_0_1_1
InParanoidiP35712
OMAiGDKAMNG
OrthoDBi465521at2759
PhylomeDBiP35712
TreeFamiTF320471

Enzyme and pathway databases

PathwayCommonsiP35712
ReactomeiR-HSA-3769402, Deactivation of the beta-catenin transactivating complex
SignaLinkiP35712
SIGNORiP35712

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		55553, 18 hits in 1099 CRISPR screens

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

More...ChiTaRSi		SOX6, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SOX6

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

More...GenomeRNAii		55553
PharosiP35712, Tbio

Protein Ontology

More...PROi		PR:P35712
RNActiP35712, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000110693, Expressed in intestine and 194 other tissues
ExpressionAtlasiP35712, baseline and differential
GenevisibleiP35712, 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-6
PANTHERiPTHR45789:SF1, PTHR45789:SF1, 1 hit
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

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 nameiSOX6_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: P35712
Secondary accession number(s): Q86VX7
, Q9BXQ3, Q9BXQ4, Q9BXQ5, Q9H0I8
<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: November 25, 2008
Last modified: May 25, 2022
This is version 192 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 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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