UniProtKB - P35711 (SOX5_HUMAN)
Protein
Transcription factor SOX-5
Gene
SOX5
Organism
Homo sapiens (Human)
Status
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 556 – 624 | HMG boxPROSITE-ProRule annotationAdd BLAST | 69 |
GO - Molecular functioni
- cis-regulatory region sequence-specific DNA binding Source: Ensembl
- DNA-binding transcription factor activity Source: ProtInc
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- transcription regulatory region sequence-specific DNA binding Source: UniProtKB
GO - Biological processi
- asymmetric neuroblast division Source: UniProtKB
- cartilage condensation Source: UniProtKB
- cartilage development Source: UniProtKB
- cell fate commitment Source: GO_Central
- cellular response to transforming growth factor beta stimulus Source: UniProtKB
- chondrocyte differentiation Source: UniProtKB
- negative regulation of transcription, DNA-templated Source: GO_Central
- positive regulation of cartilage development Source: UniProtKB
- positive regulation of chondrocyte differentiation Source: UniProtKB
- positive regulation of mesenchymal stem cell differentiation Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: GO_Central
- transcription by RNA polymerase II Source: ProtInc
Keywordsi
Molecular function | Activator, DNA-binding |
Biological process | Differentiation, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | P35711 |
SignaLinki | P35711 |
SIGNORi | P35711 |
Names & Taxonomyi
Protein namesi | Recommended name: Transcription factor SOX-5Curated |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000134532.15 |
HGNCi | HGNC:11201, SOX5 |
MIMi | 604975, gene |
neXtProti | NX_P35711 |
Subcellular locationi
Nucleus
- Nucleus By similarity
Nucleus
- nuclear chromatin Source: NTNU_SB
- nucleus Source: GO_Central
Keywords - Cellular componenti
NucleusPathology & Biotechi
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 OMIMKeywords - Diseasei
Mental retardationOrganism-specific databases
DisGeNETi | 6660 |
MalaCardsi | SOX5 |
MIMi | 616803, phenotype |
OpenTargetsi | ENSG00000134532 |
Orphaneti | 313884, 12p12.1 microdeletion syndrome 313892, Developmental and speech delay due to SOX5 deficiency |
PharmGKBi | PA36038 |
Miscellaneous databases
Pharosi | P35711, Tbio |
Polymorphism and mutation databases
BioMutai | SOX5 |
DMDMi | 30179883 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000048726 | 1 – 763 | Transcription factor SOX-5Add BLAST | 763 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 21 | PhosphoserineCombined sources | 1 | |
Modified residuei | 131 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 370 | PhosphoserineCombined sources | 1 | |
Modified residuei | 372 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 411 | PhosphoserineCombined sources | 1 | |
Modified residuei | 414 | PhosphoserineCombined sources | 1 | |
Modified residuei | 439 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
jPOSTi | P35711 |
MassIVEi | P35711 |
MaxQBi | P35711 |
PaxDbi | P35711 |
PeptideAtlasi | P35711 |
PRIDEi | P35711 |
ProteomicsDBi | 26824 55137 [P35711-1] 55138 [P35711-2] 55139 [P35711-3] 55140 [P35711-4] |
TopDownProteomicsi | P35711-1 [P35711-1] |
PTM databases
iPTMneti | P35711 |
PhosphoSitePlusi | P35711 |
Expressioni
Gene expression databases
Bgeei | ENSG00000134532, Expressed in cortical plate and 185 other tissues |
ExpressionAtlasi | P35711, baseline and differential |
Genevisiblei | P35711, HS |
Organism-specific databases
HPAi | ENSG00000134532, Tissue enriched (testis) |
Interactioni
Subunit structurei
Forms homodimers and heterodimers with SOX6.
By similarityBinary interactionsi
Hide detailsP35711
Isoform 4 [P35711-4]
Protein-protein interaction databases
BioGRIDi | 112543, 44 interactors |
IntActi | P35711, 43 interactors |
MINTi | P35711 |
STRINGi | 9606.ENSP00000398273 |
Miscellaneous databases
RNActi | P35711, protein |
Family & Domainsi
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 193 – 274 | Sequence analysisAdd BLAST | 82 | |
Coiled coili | 448 – 515 | Sequence analysisAdd BLAST | 68 |
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG0528, Eukaryota |
GeneTreei | ENSGT00940000156122 |
HOGENOMi | CLU_018522_0_0_1 |
InParanoidi | P35711 |
OMAi | THPQSDK |
OrthoDBi | 465521at2759 |
PhylomeDBi | P35711 |
TreeFami | TF320471 |
Family and domain databases
Gene3Di | 1.10.30.10, 1 hit |
InterProi | View protein in InterPro IPR009071, HMG_box_dom IPR036910, HMG_box_dom_sf IPR027153, SOX-5/6 |
PANTHERi | PTHR45789:SF1, PTHR45789:SF1, 2 hits |
Pfami | View protein in Pfam PF00505, HMG_box, 1 hit |
SMARTi | View protein in SMART SM00398, HMG, 1 hit |
SUPFAMi | SSF47095, SSF47095, 1 hit |
PROSITEi | View protein in PROSITE PS50118, HMG_BOX_2, 1 hit |
s (5+)i Sequence
Sequence statusi: Complete.
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF5H0I3 | F5H0I3_HUMAN | Transcription factor SOX-5 | SOX5 | 728 | Annotation score: | ||
F5H876 | F5H876_HUMAN | Transcription factor SOX-5 | SOX5 | 241 | Annotation score: | ||
I3L0A5 | I3L0A5_HUMAN | Transcription factor SOX-5 | SOX5 | 509 | Annotation score: | ||
A0A590UJ80 | A0A590UJ80_HUMAN | Transcription factor SOX-5 | SOX5 | 203 | Annotation score: | ||
F5GWL1 | F5GWL1_HUMAN | Transcription factor SOX-5 | SOX5 | 144 | Annotation score: | ||
G3V0H1 | G3V0H1_HUMAN | SRY (Sex determining region Y)-box ... | SOX5 hCG_1811069 | 128 | Annotation score: | ||
A0A2R8Y7P3 | A0A2R8Y7P3_HUMAN | Transcription factor SOX-5 | SOX5 | 107 | Annotation score: | ||
A0A2R8Y5Q1 | A0A2R8Y5Q1_HUMAN | Transcription factor SOX-5 | SOX5 | 57 | Annotation score: |
Sequence cautioni
The sequence AAB49537 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 276 | P → L in BAH14086 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 295 | Q → H in BAB85048 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 513 | N → S in BAB85048 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 514 | E → Q in AAB49537 (PubMed:8812465).Curated | 1 | |
Sequence conflicti | 545 | E → G in BAB85048 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 754 | S → N in BAC05353 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_065754 | 362 | Q → P in a patient with amyotrophic lateral sclerosis. 1 PublicationCorresponds to variant dbSNP:rs144670919Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_007262 | 1 – 386 | Missing in isoform 3. 2 PublicationsAdd BLAST | 386 | |
Alternative sequenceiVSP_007261 | 1 – 13 | Missing in isoform 2 and isoform 4. 2 PublicationsAdd BLAST | 13 | |
Alternative sequenceiVSP_045997 | 1 – 13 | MLTDP…QEFER → MSV in isoform 5. 1 PublicationAdd BLAST | 13 | |
Alternative sequenceiVSP_007263 | 387 – 388 | SK → MH in isoform 3. 2 Publications | 2 | |
Alternative sequenceiVSP_007264 | 388 – 495 | Missing in isoform 4. 1 PublicationAdd BLAST | 108 |
Sequence databases
Genome annotation databases
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] |
GeneIDi | 6660 |
KEGGi | hsa:6660 |
UCSCi | uc001rfv.5, human [P35711-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
3D structure databases
BMRBi | P35711 |
SMRi | P35711 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 112543, 44 interactors |
IntActi | P35711, 43 interactors |
MINTi | P35711 |
STRINGi | 9606.ENSP00000398273 |
PTM databases
iPTMneti | P35711 |
PhosphoSitePlusi | P35711 |
Polymorphism and mutation databases
BioMutai | SOX5 |
DMDMi | 30179883 |
Proteomic databases
jPOSTi | P35711 |
MassIVEi | P35711 |
MaxQBi | P35711 |
PaxDbi | P35711 |
PeptideAtlasi | P35711 |
PRIDEi | P35711 |
ProteomicsDBi | 26824 55137 [P35711-1] 55138 [P35711-2] 55139 [P35711-3] 55140 [P35711-4] |
TopDownProteomicsi | P35711-1 [P35711-1] |
Protocols and materials databases
Antibodypediai | 12481, 222 antibodies |
DNASUi | 6660 |
Genome annotation databases
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] |
GeneIDi | 6660 |
KEGGi | hsa:6660 |
UCSCi | uc001rfv.5, human [P35711-1] |
Organism-specific databases
CTDi | 6660 |
DisGeNETi | 6660 |
EuPathDBi | HostDB:ENSG00000134532.15 |
GeneCardsi | SOX5 |
HGNCi | HGNC:11201, SOX5 |
HPAi | ENSG00000134532, Tissue enriched (testis) |
MalaCardsi | SOX5 |
MIMi | 604975, gene 616803, phenotype |
neXtProti | NX_P35711 |
OpenTargetsi | ENSG00000134532 |
Orphaneti | 313884, 12p12.1 microdeletion syndrome 313892, Developmental and speech delay due to SOX5 deficiency |
PharmGKBi | PA36038 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0528, Eukaryota |
GeneTreei | ENSGT00940000156122 |
HOGENOMi | CLU_018522_0_0_1 |
InParanoidi | P35711 |
OMAi | THPQSDK |
OrthoDBi | 465521at2759 |
PhylomeDBi | P35711 |
TreeFami | TF320471 |
Enzyme and pathway databases
PathwayCommonsi | P35711 |
SignaLinki | P35711 |
SIGNORi | P35711 |
Miscellaneous databases
BioGRID-ORCSi | 6660, 10 hits in 867 CRISPR screens |
ChiTaRSi | SOX5, human |
GeneWikii | SOX5 |
GenomeRNAii | 6660 |
Pharosi | P35711, Tbio |
PROi | PR:P35711 |
RNActi | P35711, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000134532, Expressed in cortical plate and 185 other tissues |
ExpressionAtlasi | P35711, baseline and differential |
Genevisiblei | P35711, HS |
Family and domain databases
Gene3Di | 1.10.30.10, 1 hit |
InterProi | View protein in InterPro IPR009071, HMG_box_dom IPR036910, HMG_box_dom_sf IPR027153, SOX-5/6 |
PANTHERi | PTHR45789:SF1, PTHR45789:SF1, 2 hits |
Pfami | View protein in Pfam PF00505, HMG_box, 1 hit |
SMARTi | View protein in SMART SM00398, HMG, 1 hit |
SUPFAMi | SSF47095, SSF47095, 1 hit |
PROSITEi | View protein in PROSITE PS50118, HMG_BOX_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SOX5_HUMAN | |
Accessioni | P35711Primary (citable) accession number: P35711 Secondary accession number(s): B7Z8V0 Q8TEA4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 1, 1994 |
Last sequence update: | April 23, 2003 | |
Last modified: | December 2, 2020 | |
This is version 185 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations