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P35711 (SOX5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 134. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transcription factor SOX-5
Gene names
Name:SOX5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length763 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Nucleus By similarity.

Sequence similarities

Contains 1 HMG box DNA-binding domain.

Sequence caution

The sequence AAB49537.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
   LigandDNA-binding
   Molecular functionActivator
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcartilage development

Inferred from electronic annotation. Source: Ensembl

cell fate commitment

Inferred from electronic annotation. Source: Ensembl

cellular response to transforming growth factor beta stimulus

Inferred from direct assay PubMed 21401405. Source: UniProtKB

central nervous system neuron differentiation

Inferred from electronic annotation. Source: Ensembl

in utero embryonic development

Inferred from electronic annotation. Source: Ensembl

negative regulation of transcription, DNA-templated

Inferred from electronic annotation. Source: Ensembl

oligodendrocyte differentiation

Inferred from electronic annotation. Source: Ensembl

positive regulation of cartilage development

Inferred from direct assay PubMed 21401405. Source: UniProtKB

positive regulation of chondrocyte differentiation

Inferred from direct assay PubMed 21401405. Source: UniProtKB

positive regulation of mesenchymal stem cell differentiation

Inferred from direct assay PubMed 21401405. Source: UniProtKB

positive regulation of transcription from RNA polymerase II promoter

Inferred from electronic annotation. Source: Ensembl

regulation of timing of neuron differentiation

Inferred from electronic annotation. Source: Ensembl

transcription from RNA polymerase II promoter

Traceable author statement Ref.5. Source: ProtInc

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionprotein binding

Inferred from physical interaction PubMed 21262861. Source: IntAct

sequence-specific DNA binding transcription factor activity

Traceable author statement Ref.5. Source: ProtInc

transcription regulatory region DNA binding

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

SHOXO152662EBI-3505701,EBI-3505698

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P35711-1)

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.
Isoform 2 (identifier: P35711-2)

Also known as: L-SOX5B;

The sequence of this isoform differs from the canonical sequence as follows:
     1-13: Missing.
Isoform 3 (identifier: P35711-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-386: Missing.
     387-388: SK → MH
Note: No experimental confirmation available.
Isoform 4 (identifier: P35711-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-13: Missing.
     388-495: Missing.
Note: No experimental confirmation available.
Isoform 5 (identifier: P35711-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-13: MLTDPDLPQEFER → MSV
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 763763Transcription factor SOX-5
PRO_0000048726

Regions

DNA binding556 – 62469HMG box
Coiled coil193 – 27482 Potential
Coiled coil448 – 51568 Potential

Natural variations

Alternative sequence1 – 386386Missing in isoform 3.
VSP_007262
Alternative sequence1 – 1313Missing in isoform 2 and isoform 4.
VSP_007261
Alternative sequence1 – 1313MLTDP…QEFER → MSV in isoform 5.
VSP_045997
Alternative sequence387 – 3882SK → MH in isoform 3.
VSP_007263
Alternative sequence388 – 495108Missing in isoform 4.
VSP_007264
Natural variant3621Q → P in a patient with amyotrophic lateral sclerosis. Ref.8
VAR_065754

Experimental info

Sequence conflict2761P → L in BAH14086. Ref.2
Sequence conflict2951Q → H in BAB85048. Ref.2
Sequence conflict5131N → S in BAB85048. Ref.2
Sequence conflict5141E → Q in AAB49537. Ref.5
Sequence conflict5451E → G in BAB85048. Ref.2
Sequence conflict7541S → N in BAC05353. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (L-SOX5A) [UniParc].

Last modified April 23, 2003. Version 3.
Checksum: 02B5B13429A59CAA

FASTA76384,026
        10         20         30         40         50         60 
MLTDPDLPQE FERMSSKRPA SPYGEADGEV AMVTSRQKVE EEESDGLPAF HLPLHVSFPN 

        70         80         90        100        110        120 
KPHSEEFQPV SLLTQETCGH RTPTSQHNTM EVDGNKVMSS FAPHNSSTSP QKAEEGGRQS 

       130        140        150        160        170        180 
GESLSSTALG TPERRKGSLA DVVDTLKQRK MEELIKNEPE ETPSIEKLLS KDWKDKLLAM 

       190        200        210        220        230        240 
GSGNFGEIKG TPESLAEKER QLMGMINQLT SLREQLLAAH DEQKKLAASQ IEKQRQQMEL 

       250        260        270        280        290        300 
AKQQQEQIAR QQQQLLQQQH KINLLQQQIQ VQGQLPPLMI PVFPPDQRTL AAAAQQGFLL 

       310        320        330        340        350        360 
PPGFSYKAGC SDPYPVQLIP TTMAAAAAAT PGLGPLQLQQ LYAAQLAAMQ VSPGGKLPGI 

       370        380        390        400        410        420 
PQGNLGAAVS PTSIHTDKST NSPPPKSKDE VAQPLNLSAK PKTSDGKSPT SPTSPHMPAL 

       430        440        450        460        470        480 
RINSGAGPLK ASVPAALASP SARVSTIGYL NDHDAVTKAI QEARQMKEQL RREQQVLDGK 

       490        500        510        520        530        540 
VAVVNSLGLN NCRTEKEKTT LESLTQQLAV KQNEEGKFSH AMMDFNLSGD SDGSAGVSES 

       550        560        570        580        590        600 
RIYRESRGRG SNEPHIKRPM NAFMVWAKDE RRKILQAFPD MHNSNISKIL GSRWKAMTNL 

       610        620        630        640        650        660 
EKQPYYEEQA RLSKQHLEKY PDYKYKPRPK RTCLVDGKKL RIGEYKAIMR NRRQEMRQYF 

       670        680        690        700        710        720 
NVGQQAQIPI ATAGVVYPGA IAMAGMPSPH LPSEHSSVSS SPEPGMPVIQ STYGVKGEEP 

       730        740        750        760 
HIKEEIQAED INGEIYDEYD EEEDDPDVDY GSDSENHIAG QAN 

« Hide

Isoform 2 (L-SOX5B) [UniParc].

Checksum: F8152F0BD72E6734
Show »

FASTA75082,453
Isoform 3 [UniParc].

Checksum: A4B74A55C2E44E9A
Show »

FASTA37741,990
Isoform 4 [UniParc].

Checksum: 1F142CAF87059BAA
Show »

FASTA64271,044
Isoform 5 [UniParc].

Checksum: 57F018BA2D8B901E
Show »

FASTA75382,770

References

« Hide 'large scale' references
[1]"Identification and characterization of the human long form of Sox5 (L-SOX5) gene."
Ikeda T., Zhang J., Chano T., Mabuchi A., Fukuda A., Kawaguchi H., Nakamura K., Ikegawa S.
Gene 298:59-68(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3 AND 5).
Tissue: Liver, Testis and Trachea.
[3]"The finished DNA sequence of human chromosome 12."
Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. expand/collapse author list , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 388-763 (ISOFORM 3).
Tissue: Brain.
[5]"Cloning and characterization of SOX5, a new member of the human SOX gene family."
Wunderle V.M., Critcher R., Ashworth A., Goodfellow P.N.
Genomics 36:354-358(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 389-763.
Tissue: Testis.
[6]"A conserved family of genes related to the testis determining gene, SRY."
Denny P., Swift S., Brand N., Dabhade N., Barton P., Ashworth A.
Nucleic Acids Res. 20:2887-2887(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 567-620.
Tissue: Fetal heart and Heart.
[7]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis."
Daoud H., Valdmanis P.N., Gros-Louis F., Belzil V., Spiegelman D., Henrion E., Diallo O., Desjarlais A., Gauthier J., Camu W., Dion P.A., Rouleau G.A.
Arch. Neurol. 68:587-593(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PRO-362.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS41761.1. [P35711-3]
CCDS44844.1. [P35711-2]
CCDS58216.1. [P35711-4]
CCDS58217.1. [P35711-5]
CCDS8699.1. [P35711-1]
PIRS22939.
RefSeqNP_001248343.1. NM_001261414.1. [P35711-4]
NP_001248344.1. NM_001261415.1. [P35711-5]
NP_008871.3. NM_006940.4. [P35711-1]
NP_694534.1. NM_152989.3. [P35711-2]
NP_821078.1. NM_178010.2. [P35711-3]
XP_006719212.1. XM_006719149.1. [P35711-2]
XP_006719213.1. XM_006719150.1. [P35711-2]
UniGeneHs.657542.

3D structure databases

ProteinModelPortalP35711.
SMRP35711. Positions 554-623.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112543. 12 interactions.
IntActP35711. 11 interactions.
MINTMINT-1198407.

PTM databases

PhosphoSiteP35711.

Polymorphism databases

DMDM30179883.

Proteomic databases

MaxQBP35711.
PaxDbP35711.
PRIDEP35711.

Protocols and materials databases

DNASU6660.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000309359; ENSP00000308927; ENSG00000134532. [P35711-2]
ENST00000381381; 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]
GeneID6660.
KEGGhsa:6660.
UCSCuc001rfv.4. human. [P35711-3]
uc001rfw.3. human. [P35711-1]
uc001rfy.4. human. [P35711-4]

Organism-specific databases

CTD6660.
GeneCardsGC12M023585.
HGNCHGNC:11201. SOX5.
MIM604975. gene.
neXtProtNX_P35711.
Orphanet313884. 12p12.1 microdeletion syndrome.
313892. Developmental and speech delay due to SOX5 deficiency.
PharmGKBPA36038.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG253815.
HOVERGENHBG003915.
InParanoidP35711.
KOK09269.
OMAPSEHSSM.
OrthoDBEOG7W153F.
PhylomeDBP35711.
TreeFamTF320471.

Enzyme and pathway databases

SignaLinkP35711.

Gene expression databases

ArrayExpressP35711.
BgeeP35711.
GenevestigatorP35711.

Family and domain databases

Gene3D1.10.30.10. 1 hit.
InterProIPR009071. HMG_box_dom.
[Graphical view]
PfamPF00505. HMG_box. 1 hit.
[Graphical view]
SMARTSM00398. HMG. 1 hit.
[Graphical view]
SUPFAMSSF47095. SSF47095. 1 hit.
PROSITEPS50118. HMG_BOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSOX5. human.
GeneWikiSOX5.
GenomeRNAi6660.
NextBio25963.
PROP35711.
SOURCESearch...

Entry information

Entry nameSOX5_HUMAN
AccessionPrimary (citable) accession number: P35711
Secondary accession number(s): B7Z8V0 expand/collapse secondary AC list , F5H5B0, Q86UK8, Q8J017, Q8J018, Q8J019, Q8J020, Q8N1D9, Q8N7E0, Q8TEA4
Entry history
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: April 23, 2003
Last modified: July 9, 2014
This is version 134 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM