P35711 (SOX5_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 123.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Transcription factor SOX-5 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 763 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence 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
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| SHOX | O15266 | 2 | EBI-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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 763 | 763 | Transcription factor SOX-5 | PRO_0000048726 | |||||
Regions | |||||||||
| DNA binding | 556 – 624 | 69 | HMG box | ||||||
| Coiled coil | 193 – 274 | 82 | Potential | ||||||
| Coiled coil | 448 – 515 | 68 | Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 108 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 414 | 1 | Phosphoserine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 386 | 386 | Missing in isoform 3. | VSP_007262 | |||||
| Alternative sequence | 1 – 13 | 13 | Missing in isoform 2 and isoform 4. | VSP_007261 | |||||
| Alternative sequence | 1 – 13 | 13 | MLTDP…QEFER → MSV in isoform 5. | VSP_045997 | |||||
| Alternative sequence | 387 – 388 | 2 | SK → MH in isoform 3. | VSP_007263 | |||||
| Alternative sequence | 388 – 495 | 108 | Missing in isoform 4. | VSP_007264 | |||||
| Natural variant | 362 | 1 | Q → P in a patient with amyotrophic lateral sclerosis. Ref.8 | VAR_065754 | |||||
Experimental info | |||||||||
| Sequence conflict | 276 | 1 | P → L in BAH14086. Ref.2 | ||||||
| Sequence conflict | 295 | 1 | Q → H in BAB85048. Ref.2 | ||||||
| Sequence conflict | 513 | 1 | N → S in BAB85048. Ref.2 | ||||||
| Sequence conflict | 514 | 1 | E → Q in AAB49537. Ref.5 | ||||||
| Sequence conflict | 545 | 1 | E → G in BAB85048. Ref.2 | ||||||
| Sequence conflict | 754 | 1 | S → N in BAC05353. Ref.2 | ||||||
Sequences
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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. 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. 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. |
| IPI | IPI00166143. IPI00171247. IPI00216317. IPI00221270. IPI01010805. |
| PIR | S22939. |
| RefSeq | NP_001248343.1. NM_001261414.1. NP_001248344.1. NM_001261415.1. NP_008871.3. NM_006940.4. NP_694534.1. NM_152989.3. NP_821078.1. NM_178010.2. |
| UniGene | Hs.657542. |
3D structure databases | |
| ProteinModelPortal | P35711. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | P35711. 8 interactions. |
| MINT | MINT-1198407. |
PTM databases | |
| PhosphoSite | P35711. |
Polymorphism databases | |
| DMDM | 30179883. |
Proteomic databases | |
| PaxDb | P35711. |
| PRIDE | P35711. |
Protocols and materials databases | |
| DNASU | 6660. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000309359; ENSP00000308927; ENSG00000134532. ENST00000381381; ENSP00000370788; ENSG00000134532. ENST00000396007; ENSP00000379328; ENSG00000134532. ENST00000451604; ENSP00000398273; ENSG00000134532. ENST00000541536; ENSP00000441973; ENSG00000134532. ENST00000545921; ENSP00000443520; ENSG00000134532. ENST00000546136; ENSP00000437487; ENSG00000134532. |
| GeneID | 6660. |
| KEGG | hsa:6660. |
| UCSC | uc001rfv.3. human. uc001rfw.3. human. uc001rfy.3. human. |
Organism-specific databases | |
| CTD | 6660. |
| GeneCards | GC12M023585. |
| HGNC | HGNC:11201. SOX5. |
| MIM | 604975. gene. |
| neXtProt | NX_P35711. |
| PharmGKB | PA36038. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG253815. |
| HOVERGEN | HBG003915. |
| InParanoid | P35711. |
| KO | K09269. |
| OMA | PSEHSSM. |
| OrthoDB | EOG42BX84. |
| PhylomeDB | P35711. |
Gene expression databases | |
| ArrayExpress | P35711. |
| Bgee | P35711. |
| Genevestigator | P35711. |
| GermOnline | ENSG00000134532. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.10.30.10. 1 hit. |
| InterPro | IPR009071. HMG_box_dom. [Graphical view] |
| Pfam | PF00505. HMG_box. 1 hit. [Graphical view] |
| SMART | SM00398. HMG. 1 hit. [Graphical view] |
| SUPFAM | SSF47095. HMG-box. 1 hit. |
| PROSITE | PS50118. HMG_BOX_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | SOX5. human. |
| GenomeRNAi | 6660. |
| NextBio | 25963. |
| SOURCE | Search... |
Entry information
| Entry name | SOX5_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P35711 Secondary accession number(s): B7Z8V0 Q8TEA4 | ||||||||
| Entry history |
| ||||||||
| Entry status | 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. | ||||||||
Relevant documents
| 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 |
| 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with
