Reviewed,
UniProtKB/Swiss-Prot P23759 (PAX7_HUMAN)
Last modified
June 16, 2009.
Version 97.
History...
Clusters with 100%,
90%,
50% identity |
Documents (3) |
Third-party data |
Customize display | text xml rdf/xml gff fasta |
Names and origin
| Protein names | Recommended name: Paired box protein Pax-7 Alternative name(s): HUP1 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 520 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Probable transcription factor. May have a role in myogenesis. |
| Subunit structure | Can bind to DNA as a heterodimer with PAX3. Interacts with DAXX. |
| Subcellular location | |
| Involvement in disease | A chromosomal aberration involving PAX7 is a cause of rhabdomyosarcoma 2 (RMS2) [MIM:268220]; also known as alveolar rhabdomyosarcoma. Translocation t(1;13)(p36;q14) with FOXO1. The resulting protein is a transcriptional activator. |
| Sequence similarities | Belongs to the paired homeobox family. Contains 1 homeobox DNA-binding domain. Contains 1 paired domain. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| CRK | P46108 | 1 | EBI-1042757,EBI-886 | |
| FYN | P06241 | 1 | EBI-1042757,EBI-515315 | |
| NCK1 | P16333 | 1 | EBI-1042757,EBI-389883 | |
| SRC | P12931 | 1 | EBI-1042757,EBI-621482 |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform Long (identifier: P23759-1) 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 Short (identifier: P23759-2) The sequence of this isoform differs from the canonical sequence as follows: 151-152: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 520 | 520 | Paired box protein Pax-7 | PRO_0000050194 | |||||
Regions | |||||||||
| Domain | 34 – 163 | 130 | Paired | ||||||
| DNA binding | 217 – 276 | 60 | Homeobox | ||||||
| Compositional bias | 340 – 346 | 7 | Poly-Ala | ||||||
Natural variations | |||||||||
| Alternative sequence | 151 – 152 | 2 | Missing in isoform Short. | VSP_002370 | |||||
Sequences
| ||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "The genomic organization and the full coding region of the human PAX7 gene." Vorobyov E., Mertsalov I., Dockhorn-Dworniczak B., Dworniczak B., Horst J. Genomics 45:168-174(1997) [PubMed: 9339373] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], ALTERNATIVE SPLICING. |
| [2] | "The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. Bentley D.R.Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "Molecular cloning and characterization of a human PAX-7 cDNA expressed in normal and neoplastic myocytes." Schaefer B.W., Czerny T., Bernasconi M., Genini M., Busslinger M. Nucleic Acids Res. 22:4574-4582(1994) [PubMed: 7527137] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-467 (ISOFORM LONG). |
| [4] | "Conservation of the paired domain in metazoans and its structure in three isolated human genes." Burri M., Tromvoukis Y., Bopp D., Frigerio G., Noll M. EMBO J. 8:1183-1190(1989) [PubMed: 2501086] [Abstract] Cited for: NUCLEOTIDE SEQUENCE OF 30-195 (ISOFORM SHORT). |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| X96743 mRNA. Translation: CAA65520.1. X96744 X96748 Genomic DNA. Translation: CAA65521.1. X96744 X96748 Genomic DNA. Translation: CAA65522.1. AL021528 Genomic DNA. Translation: CAA16432.1. Z35141 mRNA. Translation: CAA84513.1. | |
| IPI | IPI00004431. IPI00012894. |
| PIR | S78502. |
| RefSeq | NP_001128726.1. NP_002575.1. NP_039236.1. |
| UniGene | Hs.113253 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1FJL based on UniProtKB P06601. |
| SMR | P23759. Positions 38-163, 216-275. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | P23759. 5 interactions. |
PTM databases | |
| PhosphoSite | P23759. |
Proteomic databases | |
| PRIDE | P23759. |
Genome annotation databases | |
| Ensembl | ENSG00000009709. Homo sapiens. [Contig view] |
| GeneID | 5081. |
Organism-specific databases | |
| GeneCards | GC01P018830. |
| H-InvDB | HIX0028848. |
| HGNC | HGNC:8621. PAX7. |
| MIM | 167410. gene. 268220. phenotype. |
| Orphanet | 780. Rhabdomyosarcoma. 99756. Rhabdomyosarcoma, alveolar. |
| PharmGKB | PA32961. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | P23759. |
| HOVERGEN | P23759. |
| OMA | P23759. MSILGNP. |
Gene expression databases | |
| ArrayExpress | P23759. |
| Bgee | P23759. |
| CleanEx | HS_PAX7. |
| GermOnline | ENSG00000009709. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001356. Homeobox. IPR017970. Homeobox_CS. IPR012287. Homeodomain-rel. IPR001523. Paired_box_N. IPR011991. Wing_hlx_DNA_bd. [Graphical view] |
| Gene3D | G3DSA:1.10.10.60. Homeodomain-rel. 1 hit. G3DSA:1.10.10.10. Wing_hlx_DNA_bd. 2 hits. |
| Pfam | PF00046. Homeobox. 1 hit. PF00292. PAX. 1 hit. [Graphical view] |
| PRINTS | PR00027. PAIREDBOX. |
| ProDom | PD000010. Homeobox. 1 hit. [Graphical view] [Entries sharing at least one domain] |
| SMART | SM00389. HOX. 1 hit. SM00351. PAX. 1 hit. [Graphical view] |
| PROSITE | PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. PS00034. PAIRED_1. 1 hit. PS51057. PAIRED_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 19602. |
| SOURCE | Search... |
Entry information
| Entry name | PAX7_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P23759 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 1 Human chromosome 1: entries, gene names and cross-references to MIM |
| 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


