P23759 · PAX7_HUMAN
- ProteinPaired box protein Pax-7
- GenePAX7
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids505 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Features
Showing features for dna binding.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
DNA binding | 34-163 | Paired | ||||
Sequence: GQGRVNQLGGVFINGRPLPNHIRHKIVEMAHHGIRPCVISRQLRVSHGCVSKILCRYQETGSIRPGAIGGSKPRQVATPDVEKKIEEYKRENPGMFSWEIRDRLLKDGHCDRSTVPSGLVSSISRVLRIK | ||||||
DNA binding | 217-276 | Homeobox | ||||
Sequence: QRRSRTTFTAEQLEELEKAFERTHYPDIYTREELAQRTKLTEARVQVWFSNRRARWRKQA |
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | chromatin | |
Cellular Component | nucleus | |
Molecular Function | DNA-binding transcription factor activity | |
Molecular Function | DNA-binding transcription factor activity, RNA polymerase II-specific | |
Molecular Function | RNA polymerase II cis-regulatory region sequence-specific DNA binding | |
Molecular Function | sequence-specific double-stranded DNA binding | |
Biological Process | anatomical structure morphogenesis | |
Biological Process | negative regulation of apoptotic process | |
Biological Process | regulation of transcription by RNA polymerase II | |
Biological Process | skeletal muscle satellite cell differentiation |
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
The subsequence SEPDLPLKRKQRRSRTTFTAEQLEELEKAFERTHYPDIYTREELAQRTKLTEARVQVWFSNRRARWRKQAGANQLAAFNH, which contains the Homeodomain domain, shows transcriptional repressor activity in a high-throughput recruitment assay.
Names & Taxonomy
Protein names
- Recommended namePaired box protein Pax-7
- Alternative names
Gene names
- Community suggested namesPAX7
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP23759
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Rhabdomyosarcoma 2 (RMS2)
- Note
- DescriptionA form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas.
- See alsoMIM:268220
Congenital myopathy 19 (CMYP19)
- Note
- DescriptionAn autosomal recessive muscular disorder characterized by infantile onset of progressive muscular atrophy, hypotonia, ptosis, scoliosis and dysmorphic facial features. Disease severity is variable, ranging from mild to severe.
- See alsoMIM:618578
Natural variants in CMYP19
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_083265 | 56 | R>C | in CMYP19; dbSNP:rs1392068839 | |
VAR_083266 | 74-505 | missing | in CMYP19 | |
VAR_083267 | 145-505 | missing | in CMYP19; loss-of-function variant resulting in a reduced muscle stem cell pool; the protein is not detected in patient muscle |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_083265 | 56 | in CMYP19; dbSNP:rs1392068839 | |||
Sequence: R → C | ||||||
Natural variant | VAR_083266 | 74-505 | in CMYP19 | |||
Sequence: Missing | ||||||
Natural variant | VAR_083267 | 145-505 | in CMYP19; loss-of-function variant resulting in a reduced muscle stem cell pool; the protein is not detected in patient muscle | |||
Sequence: Missing |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 705 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000050194 | 1-505 | UniProt | Paired box protein Pax-7 | |||
Sequence: MAALPGTVPRMMRPAPGQNYPRTGFPLEVSTPLGQGRVNQLGGVFINGRPLPNHIRHKIVEMAHHGIRPCVISRQLRVSHGCVSKILCRYQETGSIRPGAIGGSKPRQVATPDVEKKIEEYKRENPGMFSWEIRDRLLKDGHCDRSTVPSGLVSSISRVLRIKFGKKEEEDEADKKEDDGEKKAKHSIDGILGDKGNRLDEGSDVESEPDLPLKRKQRRSRTTFTAEQLEELEKAFERTHYPDIYTREELAQRTKLTEARVQVWFSNRRARWRKQAGANQLAAFNHLLPGGFPPTGMPTLPPYQLPDSTYPTTTISQDGGSTVHRPQPLPPSTMHQGGLAAAAAAADTSSAYGARHSFSSYSDSFMNPAAPSNHMNPVSNGLSPQVMSILGNPSAVPPQPQADFSISPLHGGLDSATSISASCSQRADSIKPGDSLPTSQAYCPPTYSTTGYSVDPVAGYQYGQYGQTAVDYLAKNVSLSTQRRMKLGEHSAVLGLLPVETGQAY | |||||||
Modified residue | 105 | UniProt | N6-acetyllysine | ||||
Sequence: K | |||||||
Modified residue | 139 | UniProt | N6-acetyllysine | ||||
Sequence: K | |||||||
Modified residue (large scale data) | 203 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 207 | PRIDE | Phosphoserine | ||||
Sequence: S |
Post-translational modification
Keywords
- PTM
Proteomic databases
PTM databases
Interaction
Subunit
Interacts with DAXX (PubMed:10393185).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | P23759-2 | AIRIM Q9NX04 | 3 | EBI-12859446, EBI-8643161 | |
BINARY | P23759-2 | CIB1 Q99828 | 3 | EBI-12859446, EBI-372594 | |
BINARY | P23759-2 | CT55 Q8WUE5 | 3 | EBI-12859446, EBI-6873363 | |
BINARY | P23759-2 | HOMER3 Q9NSC5 | 3 | EBI-12859446, EBI-748420 | |
BINARY | P23759-2 | KRTAP19-7 Q3SYF9 | 3 | EBI-12859446, EBI-10241353 | |
BINARY | P23759-2 | MAGOHB Q96A72 | 3 | EBI-12859446, EBI-746778 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, motif.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 27-210 | Sufficient to mediate interaction with PAXBP1 | ||||
Sequence: LEVSTPLGQGRVNQLGGVFINGRPLPNHIRHKIVEMAHHGIRPCVISRQLRVSHGCVSKILCRYQETGSIRPGAIGGSKPRQVATPDVEKKIEEYKRENPGMFSWEIRDRLLKDGHCDRSTVPSGLVSSISRVLRIKFGKKEEEDEADKKEDDGEKKAKHSIDGILGDKGNRLDEGSDVESEPD | ||||||
Region | 37-93 | PAI subdomain | ||||
Sequence: RVNQLGGVFINGRPLPNHIRHKIVEMAHHGIRPCVISRQLRVSHGCVSKILCRYQET | ||||||
Region | 113-163 | RED subdomain | ||||
Sequence: DVEKKIEEYKRENPGMFSWEIRDRLLKDGHCDRSTVPSGLVSSISRVLRIK | ||||||
Region | 167-224 | Disordered | ||||
Sequence: KEEEDEADKKEDDGEKKAKHSIDGILGDKGNRLDEGSDVESEPDLPLKRKQRRSRTTF | ||||||
Region | 389-409 | Disordered | ||||
Sequence: ILGNPSAVPPQPQADFSISPL | ||||||
Motif | 479-491 | OAR | ||||
Sequence: LSTQRRMKLGEHS |
Sequence similarities
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 3 isoforms produced by Alternative splicing.
P23759-3
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.
- Name3
- Length505
- Mass (Da)55,119
- Last updated2015-06-24 v4
- ChecksumE51CF8B3E8D4C3D9
P23759-1
- Name1
- SynonymsLong
- Differences from canonical
- 468-505: TAVDYLAKNVSLSTQRRMKLGEHSAVLGLLPVETGQAY → SECLVPWASPVPIPSPTPRASCLFMESYKVVSGWGMSISQMEKLKSSQMEQFT
P23759-2
- Name2
- SynonymsShort
Computationally mapped potential isoform sequences
There are 2 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0AAQ5BGJ6 | A0AAQ5BGJ6_HUMAN | PAX7 | 438 | ||
A0AAQ5BGK0 | A0AAQ5BGK0_HUMAN | PAX7 | 537 |
Features
Showing features for alternative sequence, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_057678 | 151-152 | in isoform 2 | |||
Sequence: Missing | ||||||
Sequence conflict | 468 | in Ref. 2; ABC48797 | ||||
Sequence: T → S | ||||||
Alternative sequence | VSP_057679 | 468-505 | in isoform 1 and isoform 2 | |||
Sequence: TAVDYLAKNVSLSTQRRMKLGEHSAVLGLLPVETGQAY → SECLVPWASPVPIPSPTPRASCLFMESYKVVSGWGMSISQMEKLKSSQMEQFT |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
X96743 EMBL· GenBank· DDBJ | CAA65520.1 EMBL· GenBank· DDBJ | mRNA | ||
X96744 EMBL· GenBank· DDBJ | CAA65521.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
X15042 EMBL· GenBank· DDBJ | CAA65521.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
X15250 EMBL· GenBank· DDBJ | CAA65521.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
X15251 EMBL· GenBank· DDBJ | CAA65521.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
X96745 EMBL· GenBank· DDBJ | CAA65521.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
X96746 EMBL· GenBank· DDBJ | CAA65521.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
X96747 EMBL· GenBank· DDBJ | CAA65521.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
X96748 EMBL· GenBank· DDBJ | CAA65521.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
X96744 EMBL· GenBank· DDBJ | CAA65522.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
X15042 EMBL· GenBank· DDBJ | CAA65522.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
X15250 EMBL· GenBank· DDBJ | CAA65522.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
X15251 EMBL· GenBank· DDBJ | CAA65522.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
X96745 EMBL· GenBank· DDBJ | CAA65522.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
X96746 EMBL· GenBank· DDBJ | CAA65522.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
X96747 EMBL· GenBank· DDBJ | CAA65522.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
X96748 EMBL· GenBank· DDBJ | CAA65522.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
DQ322591 EMBL· GenBank· DDBJ | ABC48797.1 EMBL· GenBank· DDBJ | mRNA | ||
AL021528 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471134 EMBL· GenBank· DDBJ | EAW94853.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC121165 EMBL· GenBank· DDBJ | AAI21166.1 EMBL· GenBank· DDBJ | mRNA | ||
BC121166 EMBL· GenBank· DDBJ | AAI21167.1 EMBL· GenBank· DDBJ | mRNA | ||
Z35141 EMBL· GenBank· DDBJ | CAA84513.1 EMBL· GenBank· DDBJ | mRNA |