PAX7_HUMAN
ID PAX7_HUMAN Reviewed; 505 AA.
AC P23759; E9PFV9; Q0VA99; Q2PJS5;
DT 01-NOV-1991, integrated into UniProtKB/Swiss-Prot.
DT 24-JUN-2015, sequence version 4.
DT 03-AUG-2022, entry version 211.
DE RecName: Full=Paired box protein Pax-7;
DE AltName: Full=HuP1;
GN Name=PAX7; Synonyms=HUP1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2).
RX PubMed=9339373; DOI=10.1006/geno.1997.4915;
RA Vorobyov E., Mertsalov I., Dockhorn-Dworniczak B., Dworniczak B., Horst J.;
RT "The genomic organization and the full coding region of the human PAX7
RT gene.";
RL Genomics 45:168-174(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
RX PubMed=16830101; DOI=10.1007/s00239-005-0163-7;
RA Vorobyov E., Horst J.;
RT "Getting the proto-Pax by the tail.";
RL J. Mol. Evol. 63:153-164(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1-467 (ISOFORMS 1/3).
RX PubMed=7527137; DOI=10.1093/nar/22.22.4574;
RA Schaefer B.W., Czerny T., Bernasconi M., Genini M., Busslinger M.;
RT "Molecular cloning and characterization of a human PAX-7 cDNA expressed in
RT normal and neoplastic myocytes.";
RL Nucleic Acids Res. 22:4574-4582(1994).
RN [7]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 30-195 (ISOFORM 2).
RX PubMed=2501086; DOI=10.1002/j.1460-2075.1989.tb03490.x;
RA Burri M., Tromvoukis Y., Bopp D., Frigerio G., Noll M.;
RT "Conservation of the paired domain in metazoans and its structure in three
RT isolated human genes.";
RL EMBO J. 8:1183-1190(1989).
RN [8]
RP INVOLVEMENT IN RMS2, AND CHROMOSOMAL TRANSLOCATION WITH FOXO1.
RX PubMed=8187070;
RA Davis R.J., D'Cruz C.M., Lovell M.A., Biegel J.A., Barr F.G.;
RT "Fusion of PAX7 to FKHR by the variant t(1;13)(p36;q14) translocation in
RT alveolar rhabdomyosarcoma.";
RL Cancer Res. 54:2869-2872(1994).
RN [9]
RP INTERACTION WITH DAXX.
RX PubMed=10393185; DOI=10.1093/emboj/18.13.3702;
RA Hollenbach A.D., Sublett J.E., McPherson C.J., Grosveld G.;
RT "The Pax3-FKHR oncoprotein is unresponsive to the Pax3-associated repressor
RT hDaxx.";
RL EMBO J. 18:3702-3711(1999).
RN [10]
RP FUNCTION, VARIANTS MYOSCO CYS-56; 74-ARG--TYR-505 DEL AND 145-ARG--TYR-505
RP DEL, AND CHARACTERIZATION OF VARIANT MYOSCO 145-ARG--TYR-505 DEL.
RX PubMed=31092906; DOI=10.1038/s41436-019-0532-z;
RA Feichtinger R.G., Mucha B.E., Hengel H., Orfi Z., Makowski C., Dort J.,
RA D'Anjou G., Nguyen T.T.M., Buchert R., Juenger H., Freisinger P.,
RA Baumeister S., Schoser B., Ahting U., Keimer R., Nguyen C.E., Fabre P.,
RA Gauthier J., Miguet M., Lopes F., AlHakeem A., AlHashem A., Tabarki B.,
RA Kandaswamy K.K., Bauer P., Steinbacher P., Prokisch H., Sturm M.,
RA Strom T.M., Ellezam B., Mayr J.A., Schoels L., Michaud J.L., Campeau P.M.,
RA Haack T.B., Dumont N.A.;
RT "Biallelic variants in the transcription factor PAX7 are a new genetic
RT cause of myopathy.";
RL Genet. Med. 21:2521-2531(2019).
CC -!- FUNCTION: Transcription factor that is involved in the regulation of
CC muscle stem cells proliferation, playing a role in myogenesis and
CC muscle regeneration. {ECO:0000269|PubMed:31092906}.
CC -!- SUBUNIT: Can bind to DNA as a heterodimer with PAX3. Interacts with
CC PAXBP1; the interaction links PAX7 to a WDR5-containing histone
CC methyltransferase complex (By similarity). Interacts with DAXX
CC (PubMed:10393185). {ECO:0000250|UniProtKB:P47239,
CC ECO:0000269|PubMed:10393185}.
CC -!- INTERACTION:
CC P23759; P46937: YAP1; NbExp=2; IntAct=EBI-1042757, EBI-1044059;
CC P23759-2; Q9NX04: C1orf109; NbExp=3; IntAct=EBI-12859446, EBI-8643161;
CC P23759-2; Q99828: CIB1; NbExp=3; IntAct=EBI-12859446, EBI-372594;
CC P23759-2; Q8WUE5: CT55; NbExp=3; IntAct=EBI-12859446, EBI-6873363;
CC P23759-2; Q9NSC5: HOMER3; NbExp=3; IntAct=EBI-12859446, EBI-748420;
CC P23759-2; Q3SYF9: KRTAP19-7; NbExp=3; IntAct=EBI-12859446, EBI-10241353;
CC P23759-2; Q96A72: MAGOHB; NbExp=3; IntAct=EBI-12859446, EBI-746778;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P47239}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=3;
CC IsoId=P23759-3; Sequence=Displayed;
CC Name=1; Synonyms=Long;
CC IsoId=P23759-1; Sequence=VSP_057679;
CC Name=2; Synonyms=Short;
CC IsoId=P23759-2; Sequence=VSP_057678, VSP_057679;
CC -!- DISEASE: Rhabdomyosarcoma 2 (RMS2) [MIM:268220]: A form of
CC rhabdomyosarcoma, a highly malignant tumor of striated muscle derived
CC from primitive mesenchymal cells and exhibiting differentiation along
CC rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently
CC occurring soft tissue sarcomas and the most common in children. It
CC occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal
CC rhabdomyosarcomas. {ECO:0000269|PubMed:8187070}. Note=The gene
CC represented in this entry is involved in disease pathogenesis. A
CC chromosomal aberration involving PAX7 is found in rhabdomyosarcoma.
CC Translocation t(1;13)(p36;q14) with FOXO1. The resulting protein is a
CC transcriptional activator. {ECO:0000269|PubMed:8187070}.
CC -!- DISEASE: Myopathy, congenital, progressive, with scoliosis (MYOSCO)
CC [MIM:618578]: An autosomal recessive muscular disorder characterized by
CC infantile onset of progressive muscular atrophy, hypotonia, ptosis,
CC scoliosis and dysmorphic facial features. Disease severity is variable,
CC ranging from mild to severe. {ECO:0000269|PubMed:31092906}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the paired homeobox family. {ECO:0000305}.
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DR EMBL; X96743; CAA65520.1; -; mRNA.
DR EMBL; X96744; CAA65521.1; -; Genomic_DNA.
DR EMBL; X15042; CAA65521.1; JOINED; Genomic_DNA.
DR EMBL; X15250; CAA65521.1; JOINED; Genomic_DNA.
DR EMBL; X15251; CAA65521.1; JOINED; Genomic_DNA.
DR EMBL; X96745; CAA65521.1; JOINED; Genomic_DNA.
DR EMBL; X96746; CAA65521.1; JOINED; Genomic_DNA.
DR EMBL; X96747; CAA65521.1; JOINED; Genomic_DNA.
DR EMBL; X96748; CAA65521.1; JOINED; Genomic_DNA.
DR EMBL; X96744; CAA65522.1; -; Genomic_DNA.
DR EMBL; X15042; CAA65522.1; JOINED; Genomic_DNA.
DR EMBL; X15250; CAA65522.1; JOINED; Genomic_DNA.
DR EMBL; X15251; CAA65522.1; JOINED; Genomic_DNA.
DR EMBL; X96745; CAA65522.1; JOINED; Genomic_DNA.
DR EMBL; X96746; CAA65522.1; JOINED; Genomic_DNA.
DR EMBL; X96747; CAA65522.1; JOINED; Genomic_DNA.
DR EMBL; X96748; CAA65522.1; JOINED; Genomic_DNA.
DR EMBL; DQ322591; ABC48797.1; -; mRNA.
DR EMBL; AL021528; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471134; EAW94853.1; -; Genomic_DNA.
DR EMBL; BC121165; AAI21166.1; -; mRNA.
DR EMBL; BC121166; AAI21167.1; -; mRNA.
DR EMBL; Z35141; CAA84513.1; -; mRNA.
DR CCDS; CCDS186.1; -. [P23759-1]
DR CCDS; CCDS44074.1; -. [P23759-3]
DR CCDS; CCDS44075.1; -. [P23759-2]
DR PIR; S78502; S78502.
DR RefSeq; NP_001128726.1; NM_001135254.1. [P23759-3]
DR RefSeq; NP_002575.1; NM_002584.2. [P23759-1]
DR RefSeq; NP_039236.1; NM_013945.2. [P23759-2]
DR AlphaFoldDB; P23759; -.
DR SMR; P23759; -.
DR BioGRID; 111115; 123.
DR IntAct; P23759; 122.
DR MINT; P23759; -.
DR STRING; 9606.ENSP00000364524; -.
DR iPTMnet; P23759; -.
DR PhosphoSitePlus; P23759; -.
DR BioMuta; PAX7; -.
DR DMDM; 8247951; -.
DR MassIVE; P23759; -.
DR PaxDb; P23759; -.
DR PeptideAtlas; P23759; -.
DR PRIDE; P23759; -.
DR Antibodypedia; 14724; 735 antibodies from 41 providers.
DR DNASU; 5081; -.
DR Ensembl; ENST00000375375.7; ENSP00000364524.3; ENSG00000009709.12. [P23759-1]
DR Ensembl; ENST00000400661.3; ENSP00000383502.3; ENSG00000009709.12. [P23759-2]
DR Ensembl; ENST00000420770.7; ENSP00000403389.2; ENSG00000009709.12. [P23759-3]
DR GeneID; 5081; -.
DR KEGG; hsa:5081; -.
DR MANE-Select; ENST00000420770.7; ENSP00000403389.2; NM_001135254.2; NP_001128726.1.
DR UCSC; uc001bay.3; human. [P23759-3]
DR CTD; 5081; -.
DR DisGeNET; 5081; -.
DR GeneCards; PAX7; -.
DR HGNC; HGNC:8621; PAX7.
DR HPA; ENSG00000009709; Group enriched (brain, skeletal muscle, tongue).
DR MalaCards; PAX7; -.
DR MIM; 167410; gene.
DR MIM; 268220; phenotype.
DR MIM; 618578; phenotype.
DR neXtProt; NX_P23759; -.
DR OpenTargets; ENSG00000009709; -.
DR Orphanet; 99756; Alveolar rhabdomyosarcoma.
DR PharmGKB; PA32961; -.
DR VEuPathDB; HostDB:ENSG00000009709; -.
DR eggNOG; KOG0849; Eukaryota.
DR GeneTree; ENSGT00940000156759; -.
DR HOGENOM; CLU_019281_8_0_1; -.
DR InParanoid; P23759; -.
DR OMA; CQRADSI; -.
DR OrthoDB; 1126858at2759; -.
DR TreeFam; TF351610; -.
DR PathwayCommons; P23759; -.
DR SignaLink; P23759; -.
DR SIGNOR; P23759; -.
DR BioGRID-ORCS; 5081; 18 hits in 1099 CRISPR screens.
DR ChiTaRS; PAX7; human.
DR GeneWiki; PAX7; -.
DR GenomeRNAi; 5081; -.
DR Pharos; P23759; Tbio.
DR PRO; PR:P23759; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; P23759; protein.
DR Bgee; ENSG00000009709; Expressed in olfactory segment of nasal mucosa and 50 other tissues.
DR Genevisible; P23759; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; TAS:ProtInc.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0048856; P:anatomical structure development; IBA:GO_Central.
DR GO; GO:0009653; P:anatomical structure morphogenesis; TAS:ProtInc.
DR GO; GO:0007517; P:muscle organ development; IEA:UniProtKB-KW.
DR GO; GO:0043066; P:negative regulation of apoptotic process; TAS:ProtInc.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR CDD; cd00086; homeodomain; 1.
DR CDD; cd00131; PAX; 1.
DR Gene3D; 1.10.10.10; -; 2.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR003654; OAR_dom.
DR InterPro; IPR043182; PAIRED_DNA-bd_dom.
DR InterPro; IPR001523; Paired_dom.
DR InterPro; IPR022106; Pax7_C.
DR InterPro; IPR043565; PAX_fam.
DR InterPro; IPR036388; WH-like_DNA-bd_sf.
DR PANTHER; PTHR45636; PTHR45636; 1.
DR Pfam; PF00046; Homeodomain; 1.
DR Pfam; PF00292; PAX; 1.
DR Pfam; PF12360; Pax7; 1.
DR PRINTS; PR00027; PAIREDBOX.
DR SMART; SM00389; HOX; 1.
DR SMART; SM00351; PAX; 1.
DR SUPFAM; SSF46689; SSF46689; 2.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
DR PROSITE; PS50803; OAR; 1.
DR PROSITE; PS00034; PAIRED_1; 1.
DR PROSITE; PS51057; PAIRED_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Chromosomal rearrangement; Developmental protein;
KW Disease variant; DNA-binding; Homeobox; Myogenesis; Nucleus; Paired box;
KW Proto-oncogene; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..505
FT /note="Paired box protein Pax-7"
FT /id="PRO_0000050194"
FT DNA_BIND 34..163
FT /note="Paired"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00381"
FT DNA_BIND 217..276
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 27..210
FT /note="Sufficient to mediate interaction with PAXBP1"
FT /evidence="ECO:0000250|UniProtKB:P47239"
FT REGION 37..93
FT /note="PAI subdomain"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00381"
FT REGION 113..163
FT /note="RED subdomain"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00381"
FT REGION 167..224
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 389..409
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 479..491
FT /note="OAR"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00138"
FT VAR_SEQ 151..152
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_057678"
FT VAR_SEQ 468..505
FT /note="TAVDYLAKNVSLSTQRRMKLGEHSAVLGLLPVETGQAY -> SECLVPWASP
FT VPIPSPTPRASCLFMESYKVVSGWGMSISQMEKLKSSQMEQFT (in isoform 1
FT and isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:9339373"
FT /id="VSP_057679"
FT VARIANT 56
FT /note="R -> C (in MYOSCO; dbSNP:rs1392068839)"
FT /evidence="ECO:0000269|PubMed:31092906"
FT /id="VAR_083265"
FT VARIANT 74..505
FT /note="Missing (in MYOSCO)"
FT /evidence="ECO:0000269|PubMed:31092906"
FT /id="VAR_083266"
FT VARIANT 145..505
FT /note="Missing (in MYOSCO; loss-of-function variant
FT resulting in a reduced muscle stem cell pool; the protein
FT is not detected in patient muscle)"
FT /evidence="ECO:0000269|PubMed:31092906"
FT /id="VAR_083267"
FT CONFLICT 468
FT /note="T -> S (in Ref. 2; ABC48797)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 505 AA; 55119 MW; E51CF8B3E8D4C3D9 CRC64;
MAALPGTVPR MMRPAPGQNY PRTGFPLEVS TPLGQGRVNQ LGGVFINGRP LPNHIRHKIV
EMAHHGIRPC VISRQLRVSH GCVSKILCRY QETGSIRPGA IGGSKPRQVA TPDVEKKIEE
YKRENPGMFS WEIRDRLLKD GHCDRSTVPS GLVSSISRVL RIKFGKKEEE DEADKKEDDG
EKKAKHSIDG ILGDKGNRLD EGSDVESEPD LPLKRKQRRS RTTFTAEQLE ELEKAFERTH
YPDIYTREEL AQRTKLTEAR VQVWFSNRRA RWRKQAGANQ LAAFNHLLPG GFPPTGMPTL
PPYQLPDSTY PTTTISQDGG STVHRPQPLP PSTMHQGGLA AAAAAADTSS AYGARHSFSS
YSDSFMNPAA PSNHMNPVSN GLSPQVMSIL GNPSAVPPQP QADFSISPLH GGLDSATSIS
ASCSQRADSI KPGDSLPTSQ AYCPPTYSTT GYSVDPVAGY QYGQYGQTAV DYLAKNVSLS
TQRRMKLGEH SAVLGLLPVE TGQAY
