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UniProtKB - P23759 (PAX7_HUMAN)

Entry version 209 (23 Feb 2022)
Sequence version 4 (24 Jun 2015)
Previous versions | rss
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Protein

Paired box protein Pax-7

Gene

PAX7

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Transcription factor that is involved in the regulation of muscle stem cells proliferation, playing a role in myogenesis and muscle regeneration.

1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi34 – 163PairedPROSITE-ProRule annotationAdd BLAST130
DNA bindingi217 – 276HomeoboxPROSITE-ProRule annotationAdd BLAST60

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processMyogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P23759

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P23759

SIGNOR Signaling Network Open Resource

More...SIGNORi		P23759

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Paired box protein Pax-7
Alternative name(s):
HuP1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PAX7
Synonyms:HUP1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:8621, PAX7

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		167410, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P23759

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000009709

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Rhabdomyosarcoma 2 (RMS2)1 Publication
The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving PAX7 is found in rhabdomyosarcoma. Translocation t(1;13)(p36;q14) with FOXO1. The resulting protein is a transcriptional activator.1 Publication
Disease 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.
Related information in OMIM
Myopathy, congenital, progressive, with scoliosis (MYOSCO)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_08326556R → C in MYOSCO. 1 PublicationCorresponds to variant dbSNP:rs1392068839EnsemblClinVar.1
Natural variantiVAR_08326674 – 505Missing in MYOSCO. 1 PublicationAdd BLAST432
Natural variantiVAR_083267145 – 505Missing in MYOSCO; loss-of-function variant resulting in a reduced muscle stem cell pool; the protein is not detected in patient muscle. 1 PublicationAdd BLAST361

Keywords - Diseasei

Disease variant, Proto-oncogene

Organism-specific databases

DisGeNET

More...DisGeNETi		5081

MalaCards human disease database

More...MalaCardsi		PAX7
MIMi268220, phenotype
618578, phenotype

Open Targets

More...OpenTargetsi		ENSG00000009709

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		99756, Alveolar rhabdomyosarcoma

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA32961

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P23759, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PAX7

Domain mapping of disease mutations (DMDM)

More...DMDMi		8247951

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000501941 – 505Paired box protein Pax-7Add BLAST505

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P23759

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P23759

PeptideAtlas

More...PeptideAtlasi		P23759

PRoteomics IDEntifications database

More...PRIDEi		P23759

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P23759

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P23759

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000009709, Expressed in olfactory segment of nasal mucosa and 48 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P23759, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000009709, Group enriched (brain, skeletal muscle, tongue)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Can bind to DNA as a heterodimer with PAX3.

Interacts with PAXBP1; the interaction links PAX7 to a WDR5-containing histone methyltransferase complex (By similarity).

Interacts with DAXX (PubMed:10393185).

By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		111115, 15 interactors

Protein interaction database and analysis system

More...IntActi		P23759, 14 interactors

Molecular INTeraction database

More...MINTi		P23759

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000364524

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P23759, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P23759

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni27 – 210Sufficient to mediate interaction with PAXBP1By similarityAdd BLAST184
Regioni37 – 93PAI subdomainPROSITE-ProRule annotationAdd BLAST57
Regioni113 – 163RED subdomainPROSITE-ProRule annotationAdd BLAST51
Regioni167 – 224DisorderedSequence analysisAdd BLAST58
Regioni389 – 409DisorderedSequence analysisAdd BLAST21

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi479 – 491OARPROSITE-ProRule annotationAdd BLAST13

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the paired homeobox family.Curated

Keywords - Domaini

Homeobox, Paired box

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0849, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156759

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_019281_8_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P23759

Identification of Orthologs from Complete Genome Data

More...OMAi		CQRADSI

Database of Orthologous Groups

More...OrthoDBi		1126858at2759

TreeFam database of animal gene trees

More...TreeFami		TF351610

Family and domain databases

Conserved Domains Database

More...CDDi		cd00086, homeodomain, 1 hit
cd00131, PAX, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR009057, Homeobox-like_sf
IPR017970, Homeobox_CS
IPR001356, Homeobox_dom
IPR003654, OAR_dom
IPR043182, PAIRED_DNA-bd_dom
IPR001523, Paired_dom
IPR022106, Pax7_C
IPR043565, PAX_fam
IPR036388, WH-like_DNA-bd_sf

The PANTHER Classification System

More...PANTHERi		PTHR45636, PTHR45636, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00046, Homeodomain, 1 hit
PF00292, PAX, 1 hit
PF12360, Pax7, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00027, PAIREDBOX

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00389, HOX, 1 hit
SM00351, PAX, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF46689, SSF46689, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00027, HOMEOBOX_1, 1 hit
PS50071, HOMEOBOX_2, 1 hit
PS50803, OAR, 1 hit
PS00034, PAIRED_1, 1 hit
PS51057, PAIRED_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 3 (identifier: P23759-3) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MAALPGTVPR MMRPAPGQNY PRTGFPLEVS TPLGQGRVNQ LGGVFINGRP 
        60         70         80         90        100
LPNHIRHKIV EMAHHGIRPC VISRQLRVSH GCVSKILCRY QETGSIRPGA 
       110        120        130        140        150
IGGSKPRQVA TPDVEKKIEE YKRENPGMFS WEIRDRLLKD GHCDRSTVPS 
       160        170        180        190        200
GLVSSISRVL RIKFGKKEEE DEADKKEDDG EKKAKHSIDG ILGDKGNRLD 
       210        220        230        240        250
EGSDVESEPD LPLKRKQRRS RTTFTAEQLE ELEKAFERTH YPDIYTREEL 
       260        270        280        290        300
AQRTKLTEAR VQVWFSNRRA RWRKQAGANQ LAAFNHLLPG GFPPTGMPTL 
       310        320        330        340        350
PPYQLPDSTY PTTTISQDGG STVHRPQPLP PSTMHQGGLA AAAAAADTSS 
       360        370        380        390        400
AYGARHSFSS YSDSFMNPAA PSNHMNPVSN GLSPQVMSIL GNPSAVPPQP 
       410        420        430        440        450
QADFSISPLH GGLDSATSIS ASCSQRADSI KPGDSLPTSQ AYCPPTYSTT 
       460        470        480        490        500
GYSVDPVAGY QYGQYGQTAV DYLAKNVSLS TQRRMKLGEH SAVLGLLPVE 

TGQAY
Length:505
Mass (Da):55,119
Last modified:June 24, 2015 - v4
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iE51CF8B3E8D4C3D9
GO
Isoform 1 (identifier: P23759-1) [UniParc]FASTAAdd to basket
Also known as: Long

The sequence of this isoform differs from the canonical sequence as follows:
     468-505: TAVDYLAKNV...LLPVETGQAY → SECLVPWASP...LKSSQMEQFT

Show »
Length:520
Mass (Da):56,896
Checksum:i3B0F8CC99D65699C
GO
Isoform 2 (identifier: P23759-2) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     151-152: Missing.
     468-505: TAVDYLAKNV...LLPVETGQAY → SECLVPWASP...LKSSQMEQFT

Show »
Length:518
Mass (Da):56,726
Checksum:i5400E4AF04F4023C
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti468T → S in ABC48797 (PubMed:16830101).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08326556R → C in MYOSCO. 1 PublicationCorresponds to variant dbSNP:rs1392068839EnsemblClinVar.1
Natural variantiVAR_08326674 – 505Missing in MYOSCO. 1 PublicationAdd BLAST432
Natural variantiVAR_083267145 – 505Missing in MYOSCO; loss-of-function variant resulting in a reduced muscle stem cell pool; the protein is not detected in patient muscle. 1 PublicationAdd BLAST361

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_057678151 – 152Missing in isoform 2. 1 Publication2
Alternative sequenceiVSP_057679468 – 505TAVDY…TGQAY → SECLVPWASPVPIPSPTPRA SCLFMESYKVVSGWGMSISQ MEKLKSSQMEQFT in isoform 1 and isoform 2. 2 PublicationsAdd BLAST38

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
X96743 mRNA Translation: CAA65520.1
X96744 X96748 Genomic DNA Translation: CAA65521.1
X96744 X96748 Genomic DNA Translation: CAA65522.1
DQ322591 mRNA Translation: ABC48797.1
AL021528 Genomic DNA No translation available.
CH471134 Genomic DNA Translation: EAW94853.1
BC121165 mRNA Translation: AAI21166.1
BC121166 mRNA Translation: AAI21167.1
Z35141 mRNA Translation: CAA84513.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS186.1 [P23759-1]
CCDS44074.1 [P23759-3]
CCDS44075.1 [P23759-2]

Protein sequence database of the Protein Information Resource

More...PIRi		S78502

NCBI Reference Sequences

More...RefSeqi		NP_001128726.1, NM_001135254.1 [P23759-3]
NP_002575.1, NM_002584.2 [P23759-1]
NP_039236.1, NM_013945.2 [P23759-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000375375; ENSP00000364524; ENSG00000009709 [P23759-1]
ENST00000400661; ENSP00000383502; ENSG00000009709 [P23759-2]
ENST00000420770; ENSP00000403389; ENSG00000009709

Database of genes from NCBI RefSeq genomes

More...GeneIDi		5081

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:5081

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000420770.7; ENSP00000403389.2; NM_001135254.2; NP_001128726.1

UCSC genome browser

More...UCSCi		uc001bay.3, human [P23759-3]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X96743 mRNA Translation: CAA65520.1
X96744 X96748 Genomic DNA Translation: CAA65521.1
X96744 X96748 Genomic DNA Translation: CAA65522.1
DQ322591 mRNA Translation: ABC48797.1
AL021528 Genomic DNA No translation available.
CH471134 Genomic DNA Translation: EAW94853.1
BC121165 mRNA Translation: AAI21166.1
BC121166 mRNA Translation: AAI21167.1
Z35141 mRNA Translation: CAA84513.1
CCDSiCCDS186.1 [P23759-1]
CCDS44074.1 [P23759-3]
CCDS44075.1 [P23759-2]
PIRiS78502
RefSeqiNP_001128726.1, NM_001135254.1 [P23759-3]
NP_002575.1, NM_002584.2 [P23759-1]
NP_039236.1, NM_013945.2 [P23759-2]

3D structure databases

SMRiP23759
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi111115, 15 interactors
IntActiP23759, 14 interactors
MINTiP23759
STRINGi9606.ENSP00000364524

PTM databases

iPTMnetiP23759
PhosphoSitePlusiP23759

Genetic variation databases

BioMutaiPAX7
DMDMi8247951

Proteomic databases

MassIVEiP23759
PaxDbiP23759
PeptideAtlasiP23759
PRIDEiP23759

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		14724, 728 antibodies from 41 providers

The DNASU plasmid repository

More...DNASUi		5081

Genome annotation databases

EnsembliENST00000375375; ENSP00000364524; ENSG00000009709 [P23759-1]
ENST00000400661; ENSP00000383502; ENSG00000009709 [P23759-2]
ENST00000420770; ENSP00000403389; ENSG00000009709
GeneIDi5081
KEGGihsa:5081
MANE-SelectiENST00000420770.7; ENSP00000403389.2; NM_001135254.2; NP_001128726.1
UCSCiuc001bay.3, human [P23759-3]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		5081
DisGeNETi5081

GeneCards: human genes, protein and diseases

More...GeneCardsi		PAX7
HGNCiHGNC:8621, PAX7
HPAiENSG00000009709, Group enriched (brain, skeletal muscle, tongue)
MalaCardsiPAX7
MIMi167410, gene
268220, phenotype
618578, phenotype
neXtProtiNX_P23759
OpenTargetsiENSG00000009709
Orphaneti99756, Alveolar rhabdomyosarcoma
PharmGKBiPA32961
VEuPathDBiHostDB:ENSG00000009709

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0849, Eukaryota
GeneTreeiENSGT00940000156759
HOGENOMiCLU_019281_8_0_1
InParanoidiP23759
OMAiCQRADSI
OrthoDBi1126858at2759
TreeFamiTF351610

Enzyme and pathway databases

PathwayCommonsiP23759
SignaLinkiP23759
SIGNORiP23759

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		5081, 10 hits in 1066 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		PAX7, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PAX7

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		5081
PharosiP23759, Tbio

Protein Ontology

More...PROi		PR:P23759
RNActiP23759, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000009709, Expressed in olfactory segment of nasal mucosa and 48 other tissues
GenevisibleiP23759, HS

Family and domain databases

CDDicd00086, homeodomain, 1 hit
cd00131, PAX, 1 hit
Gene3Di1.10.10.10, 2 hits
InterProiView protein in InterPro
IPR009057, Homeobox-like_sf
IPR017970, Homeobox_CS
IPR001356, Homeobox_dom
IPR003654, OAR_dom
IPR043182, PAIRED_DNA-bd_dom
IPR001523, Paired_dom
IPR022106, Pax7_C
IPR043565, PAX_fam
IPR036388, WH-like_DNA-bd_sf
PANTHERiPTHR45636, PTHR45636, 1 hit
PfamiView protein in Pfam
PF00046, Homeodomain, 1 hit
PF00292, PAX, 1 hit
PF12360, Pax7, 1 hit
PRINTSiPR00027, PAIREDBOX
SMARTiView protein in SMART
SM00389, HOX, 1 hit
SM00351, PAX, 1 hit
SUPFAMiSSF46689, SSF46689, 2 hits
PROSITEiView protein in PROSITE
PS00027, HOMEOBOX_1, 1 hit
PS50071, HOMEOBOX_2, 1 hit
PS50803, OAR, 1 hit
PS00034, PAIRED_1, 1 hit
PS51057, PAIRED_2, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPAX7_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P23759
Secondary accession number(s): E9PFV9, Q0VA99, Q2PJS5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1991
Last sequence update: June 24, 2015
Last modified: February 23, 2022
This is version 209 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
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