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UniProtKB - P35711 (SOX5_HUMAN)

Protein

Transcription factor SOX-5

Gene

SOX5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionActivator, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SignaLinkiP35711
SIGNORiP35711

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor SOX-5
Gene namesi
Name:SOX5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000134532.15
HGNCiHGNC:11201 SOX5
MIMi604975 gene
neXtProtiNX_P35711

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; Source: COMPARTMENTS

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
ProteomicsDBi55137
55138 [P35711-2]
55139 [P35711-3]
55140 [P35711-4]
TopDownProteomicsiP35711-1 [P35711-1]

PTM databases

iPTMnetiP35711
PhosphoSitePlusiP35711

Expressioni

Gene expression databases

BgeeiENSG00000134532 Expressed in 165 organ(s), highest expression level in cerebral cortex
ExpressionAtlasiP35711 baseline and differential
GenevisibleiP35711 HS

Organism-specific databases

HPAiHPA060499

Interactioni

Binary interactionsi

Protein-protein interaction databases

BioGridi112543, 34 interactors
IntActiP35711, 37 interactors
MINTiP35711
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

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
InterProiView protein in InterPro
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
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

Sequences (5+)i

Sequence statusi: Complete.

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

This entry has 5 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H0I3F5H0I3_HUMAN
Transcription factor SOX-5
SOX5
728Annotation score:
I3L0A5I3L0A5_HUMAN
Transcription factor SOX-5
SOX5
509Annotation score:
F5H876F5H876_HUMAN
Transcription factor SOX-5
SOX5
241Annotation score:
F5GWL1F5GWL1_HUMAN
Transcription factor SOX-5
SOX5
144Annotation score:
G3V0H1G3V0H1_HUMAN
SRY (Sex determining region Y)-box ...
SOX5 hCG_1811069
128Annotation score:
A0A2R8Y5Q1A0A2R8Y5Q1_HUMAN
Transcription factor SOX-5
SOX5
57Annotation score:
A0A2R8Y7P3A0A2R8Y7P3_HUMAN
Transcription factor SOX-5
SOX5
107Annotation score:

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 dbSNP:rs144670919Ensembl.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]
ENST00000646273; ENSP00000493866; ENSG00000134532 [P35711-4]
GeneIDi6660
KEGGihsa:6660
UCSCiuc001rfv.5 human [P35711-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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, 37 interactors
MINTiP35711
STRINGi9606.ENSP00000398273

PTM databases

iPTMnetiP35711
PhosphoSitePlusiP35711

Polymorphism and mutation databases

BioMutaiSOX5
DMDMi30179883

Proteomic databases

MaxQBiP35711
PaxDbiP35711
PeptideAtlasiP35711
PRIDEiP35711
ProteomicsDBi55137
55138 [P35711-2]
55139 [P35711-3]
55140 [P35711-4]
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]
ENST00000646273; ENSP00000493866; ENSG00000134532 [P35711-4]
GeneIDi6660
KEGGihsa:6660
UCSCiuc001rfv.5 human [P35711-1]

Organism-specific databases

CTDi6660
DisGeNETi6660
EuPathDBiHostDB:ENSG00000134532.15
GeneCardsiSOX5
HGNCiHGNC:11201 SOX5
HPAiHPA060499
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

SignaLinkiP35711
SIGNORiP35711

Miscellaneous databases

ChiTaRSiSOX5 human
GeneWikiiSOX5
GenomeRNAii6660
PROiPR:P35711
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000134532 Expressed in 165 organ(s), highest expression level in cerebral cortex
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
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
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 historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: April 23, 2003
Last modified: October 10, 2018
This is version 170 of the entry and version 3 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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