• Gene id: 94104

Gene Summary

• Gene Symbol: PAXBP1   Gene   UCSC   Ensembl
• Aliases: BM020, C21orf66, FSAP105, GCFC, GCFC1
• Gene name: PAX3 and PAX7 binding protein 1
• Alternate names: PAX3- and PAX7-binding protein 1, GC-rich sequence DNA-binding factor 1, GC-rich sequence DNA-binding factor candidate, functional spliceosome-associated protein 105,
• Gene location: 21q22.11 (32771857: 32733898)     Exons: 20     NC_000021.9
• Gene summary(Entrez): This gene encodes a protein that may bind to GC-rich DNA sequences, which suggests its involvement in the regulation of transcription. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2009]
• OMIM: 617621

Protein Summary

• Protein general information: Q9Y5B6  
  • Name: PAX3 and PAX7 binding protein 1 (GC rich sequence DNA binding factor 1)
  • Length: 917  
  • Mass: 104804
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MFRKARRVNVRKRNDSEEEERERDEEQEPPPLLPPPGTGEEAGPGGGDRAPGGESLLGPGPSPPSALTPGLGAEA
  GGGFPGGAEPGNGLKPRKRPRENKEVPRASLLSFQDEEEENEEVFKVKKSSYSKKIVKLLKKEYKEDLEKSKIKT
  ELNSSAESEQPLDKTGHVKDTNQEDGVIISEHGEDEMDMESEKEEEKPKTGGAFSNALSSLNVLRPGEIPDAAFI
  HAARKKRQMARELGDFTPHDNEPGKGRLVREDENDASDDEDDDEKRRIVFSVKEKSQRQKIAEEIGIEGSDDDAL
  VTGEQDEELSRWEQEQIRKGINIPQVQASQPAEVNMYYQNTYQTMPYGSSYGIPYSYTAYGSSDAKSQKTDNTVP
  FKTPSNEMTPVTIDLVKKQLKDRLDSMKELHKTNRQQHEKHLQSRVDSTRAIERLEGSSGGIGERYKFLQEMRGY
  VQDLLECFSEKVPLINELESAIHQLYKQRASRLVQRRQDDIKDESSEFSSHSNKALMAPNLDSFGRDRALYQEHA
  KRRIAEREARRTRRRQAREQTGKMADHLEGLSSDDEETSTDITNFNLEKDRISKESGKVFEDVLESFYSIDCIKS
  QFEAWRSKYYTSYKDAYIGLCLPKLFNPLIRLQLLTWTPLEAKCRDFENMLWFESLLFYGCEEREQEKDDVDVAL
  LPTIVEKVILPKLTVIAENMWDPFSTTQTSRMVGITLKLINGYPSVVNAENKNTQVYLKALLLRMRRTLDDDVFM
  PLYPKNVLENKNSGPYLFFQRQFWSSVKLLGNFLQWYGIFSNKTLQELSIDGLLNRYILMAFQNSEYGDDSIKKA
  QNVINCFPKQWFMNLKGERTISQLENFCRYLVHLADTIYRNSIGCSDVEKRNARENIKQIVKLLASVRALDHAMS
  VASDHNVKEFKSLIEGK

• Structural information:
  • Interpro: IPR012890  IPR022783  
  • STRING: ENSP00000328992
• Other Databases: GeneCards:  PAXBP1  Malacards:  PAXBP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007517	muscle organ development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0008134	transcription factor binding	IEA	molecular function
GO:0014842	regulation of skeletal muscle satellite cell proliferation	IEA	biological process
GO:0031062	positive regulation of histone methylation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:2000288	positive regulation of myoblast proliferation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881