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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-Experimental evidence at protein leveli

Functioni

Binds specifically to the DNA sequence 5'-AACAAT-3'. Activates transcription of COL2A1 and AGC1 in vitro.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi556 – 624HMG boxPROSITE-ProRule annotationAdd BLAST69

GO - Molecular functioni

  • DNA binding Source: UniProtKB-KW
  • transcription factor activity, sequence-specific DNA binding Source: ProtInc

GO - Biological processi

  • asymmetric neuroblast division Source: UniProtKB
  • cellular response to transforming growth factor beta stimulus Source: UniProtKB
  • positive regulation of cartilage development Source: UniProtKB
  • positive regulation of chondrocyte differentiation Source: UniProtKB
  • positive regulation of mesenchymal stem cell differentiation Source: UniProtKB
  • transcription from RNA polymerase II promoter Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000134532-MONOMER.
SignaLinkiP35711.

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor SOX-5
Gene namesi
Name:SOX5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:11201. SOX5.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & 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.
See also OMIM:616803

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNETi6660.
MalaCardsiSOX5.
MIMi616803. phenotype.
OpenTargetsiENSG00000134532.
Orphaneti313884. 12p12.1 microdeletion syndrome.
313892. Developmental and speech delay due to SOX5 deficiency.
PharmGKBiPA36038.

Polymorphism and mutation databases

BioMutaiSOX5.
DMDMi30179883.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000487261 – 763Transcription factor SOX-5Add BLAST763

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

MaxQBiP35711.
PaxDbiP35711.
PeptideAtlasiP35711.
PRIDEiP35711.
TopDownProteomicsiP35711-1. [P35711-1]

PTM databases

iPTMnetiP35711.
PhosphoSitePlusiP35711.

Expressioni

Gene expression databases

BgeeiENSG00000134532.
ExpressionAtlasiP35711. baseline and differential.
GenevisibleiP35711. HS.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
G2XKQ03EBI-3505701,EBI-10175576
AESQ081173EBI-3505701,EBI-717810
ARID5AC9J1Q03EBI-3505701,EBI-10176351
CBX8Q9HC523EBI-3505701,EBI-712912
CDC23Q9UJX23EBI-3505701,EBI-396137
CRXO431863EBI-3505701,EBI-748171
FAM46BQ96A093EBI-3505701,EBI-752030
KAT5Q929933EBI-3505701,EBI-399080
KIFC3Q9BVG83EBI-3505701,EBI-2125614
LMO1P258003EBI-3505701,EBI-8639312
LMO2P257913EBI-3505701,EBI-739696
MORN3Q6PF183EBI-3505701,EBI-9675802
PRR20CP864793EBI-3505701,EBI-10172814
SHOXO152662EBI-3505701,EBI-3505698
taxP034103EBI-3505701,EBI-9676218From a different organism.
ZNF581Q9P0T43EBI-3505701,EBI-745520

Protein-protein interaction databases

BioGridi112543. 34 interactors.
IntActiP35711. 34 interactors.
MINTiMINT-1198407.
STRINGi9606.ENSP00000398273.

Structurei

3D structure databases

ProteinModelPortaliP35711.
SMRiP35711.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili193 – 274Sequence analysisAdd BLAST82
Coiled coili448 – 515Sequence analysisAdd BLAST68

Sequence similaritiesi

Contains 1 HMG box DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG0528. Eukaryota.
ENOG410YZNG. LUCA.
GeneTreeiENSGT00760000119274.
HOGENOMiHOG000056455.
HOVERGENiHBG003915.
InParanoidiP35711.
KOiK09269.
OMAiMRQYFSV.
OrthoDBiEOG091G03C6.
PhylomeDBiP35711.
TreeFamiTF320471.

Family and domain databases

Gene3Di1.10.30.10. 1 hit.
InterProiIPR009071. HMG_box_dom.
[Graphical view]
PfamiPF00505. HMG_box. 1 hit.
[Graphical view]
SMARTiSM00398. HMG. 1 hit.
[Graphical view]
SUPFAMiSSF47095. SSF47095. 1 hit.
PROSITEiPS50118. HMG_BOX_2. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P35711-1) [UniParc]FASTAAdd to basket
Also known as: L-SOX5A

This isoform has been chosen as the 'canonical' 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
Checksum:i02B5B13429A59CAA
GO
Isoform 2 (identifier: P35711-2) [UniParc]FASTAAdd to basket
Also known as: L-SOX5B

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

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
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

Note: No experimental confirmation available.
Show »
Length:753
Mass (Da):82,770
Checksum:i57F018BA2D8B901E
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Natural variantiVAR_065754362Q → P in a patient with amyotrophic lateral sclerosis. 1 PublicationCorresponds to variant rs144670919dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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]
UniGeneiHs.434948.
Hs.657542.
Hs.742277.

Genome annotation databases

EnsembliENST00000381381; ENSP00000370788; ENSG00000134532. [P35711-4]
ENST00000396007; ENSP00000379328; ENSG00000134532. [P35711-3]
ENST00000451604; ENSP00000398273; ENSG00000134532. [P35711-1]
ENST00000541536; ENSP00000441973; ENSG00000134532. [P35711-4]
ENST00000545921; ENSP00000443520; ENSG00000134532. [P35711-5]
ENST00000546136; ENSP00000437487; ENSG00000134532. [P35711-2]
GeneIDi6660.
KEGGihsa:6660.
UCSCiuc001rfv.5. human. [P35711-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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]
UniGeneiHs.434948.
Hs.657542.
Hs.742277.

3D structure databases

ProteinModelPortaliP35711.
SMRiP35711.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112543. 34 interactors.
IntActiP35711. 34 interactors.
MINTiMINT-1198407.
STRINGi9606.ENSP00000398273.

PTM databases

iPTMnetiP35711.
PhosphoSitePlusiP35711.

Polymorphism and mutation databases

BioMutaiSOX5.
DMDMi30179883.

Proteomic databases

MaxQBiP35711.
PaxDbiP35711.
PeptideAtlasiP35711.
PRIDEiP35711.
TopDownProteomicsiP35711-1. [P35711-1]

Protocols and materials databases

DNASUi6660.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000381381; ENSP00000370788; ENSG00000134532. [P35711-4]
ENST00000396007; ENSP00000379328; ENSG00000134532. [P35711-3]
ENST00000451604; ENSP00000398273; ENSG00000134532. [P35711-1]
ENST00000541536; ENSP00000441973; ENSG00000134532. [P35711-4]
ENST00000545921; ENSP00000443520; ENSG00000134532. [P35711-5]
ENST00000546136; ENSP00000437487; ENSG00000134532. [P35711-2]
GeneIDi6660.
KEGGihsa:6660.
UCSCiuc001rfv.5. human. [P35711-1]

Organism-specific databases

CTDi6660.
DisGeNETi6660.
GeneCardsiSOX5.
HGNCiHGNC:11201. SOX5.
MalaCardsiSOX5.
MIMi604975. gene.
616803. phenotype.
neXtProtiNX_P35711.
OpenTargetsiENSG00000134532.
Orphaneti313884. 12p12.1 microdeletion syndrome.
313892. Developmental and speech delay due to SOX5 deficiency.
PharmGKBiPA36038.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0528. Eukaryota.
ENOG410YZNG. LUCA.
GeneTreeiENSGT00760000119274.
HOGENOMiHOG000056455.
HOVERGENiHBG003915.
InParanoidiP35711.
KOiK09269.
OMAiMRQYFSV.
OrthoDBiEOG091G03C6.
PhylomeDBiP35711.
TreeFamiTF320471.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000134532-MONOMER.
SignaLinkiP35711.

Miscellaneous databases

ChiTaRSiSOX5. human.
GeneWikiiSOX5.
GenomeRNAii6660.
PROiP35711.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000134532.
ExpressionAtlasiP35711. baseline and differential.
GenevisibleiP35711. HS.

Family and domain databases

Gene3Di1.10.30.10. 1 hit.
InterProiIPR009071. HMG_box_dom.
[Graphical view]
PfamiPF00505. HMG_box. 1 hit.
[Graphical view]
SMARTiSM00398. HMG. 1 hit.
[Graphical view]
SUPFAMiSSF47095. SSF47095. 1 hit.
PROSITEiPS50118. HMG_BOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSOX5_HUMAN
AccessioniPrimary (citable) accession number: P35711
Secondary accession number(s): B7Z8V0
, F5H5B0, Q86UK8, Q8J017, Q8J018, Q8J019, Q8J020, Q8N1D9, Q8N7E0, Q8TEA4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: April 23, 2003
Last modified: November 30, 2016
This is version 156 of the entry and version 3 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.