PAXBP1 (PAX3 and PAX7 binding protein 1)

Gene

• Entrez ID: 94104
• Gene name: PAX3 and PAX7 binding protein 1
• Gene symbol: PAXBP1
• Synonyms (NCBI Gene): BM020, C21orf66, FSAP105, GCFC, GCFC1
• Chromosome: 21
• Chromosome location: 21q22.11
• Summary: 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]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020708	hsa-miR-155-5p	Other	20584899
MIRT020708	hsa-miR-155-5p	Proteomics	18668040
MIRT023646	hsa-miR-1-3p	Proteomics	18668040
MIRT052489	hsa-let-7a-5p	CLASH	23622248
MIRT051720	hsa-let-7d-5p	CLASH	23622248
MIRT046206	hsa-miR-27b-3p	CLASH	23622248
MIRT042661	hsa-miR-196b-5p	CLASH	23622248
MIRT039357	hsa-miR-421	CLASH	23622248
MIRT020708	hsa-miR-155-5p	PAR-CLIP	20371350
MIRT561783	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT561782	hsa-miR-32-3p	PAR-CLIP	20371350
MIRT561781	hsa-miR-4775	PAR-CLIP	20371350
MIRT020708	hsa-miR-155-5p	PAR-CLIP	20371350
MIRT561783	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT561782	hsa-miR-32-3p	PAR-CLIP	20371350
MIRT561781	hsa-miR-4775	PAR-CLIP	20371350
MIRT020708	hsa-miR-155-5p	PAR-CLIP	20371350
MIRT561783	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT561782	hsa-miR-32-3p	PAR-CLIP	20371350
MIRT561781	hsa-miR-4775	PAR-CLIP	20371350
MIRT020708	hsa-miR-155-5p	PAR-CLIP	20371350
MIRT561783	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT561782	hsa-miR-32-3p	PAR-CLIP	20371350
MIRT561781	hsa-miR-4775	PAR-CLIP	20371350

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000398	Process	MRNA splicing, via spliceosome	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005829	Component	Cytosol	HDA	16780588
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007517	Process	Muscle organ development	IEA
GO:0014842	Process	Regulation of skeletal muscle satellite cell proliferation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:1990226	Function	Histone methyltransferase binding	IEA
GO:2000288	Process	Positive regulation of myoblast proliferation	IEA

Other IDs

• MIM: 617621
• HGNC: 13579
• e!Ensembl: ENSG00000159086

Protein

• UniProt ID: Q9Y5B6
• Protein name: PAX3- and PAX7-binding protein 1 (GC-rich sequence DNA-binding factor 1)
• Protein function: Adapter protein linking the transcription factors PAX3 and PAX7 to the histone methylation machinery and involved in myogenesis. Associates with a histone methyltransferase complex that specifically mediates dimethylation and trimethylation of '
• PDB: 8RO2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07842	GCFC	595 → 810	GC-rich sequence DNA-binding factor-like protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:11707072}.
• Sequence:

  MFRKARRVNVRKRNDSEEEERERDEEQEPPPLLPPPGTGEEAGPGGGDRAPGGESLLGPG
  PSPPSALTPGLGAEAGGGFPGGAEPGNGLKPRKRPRENKEVPRASLLSFQDEEEENEEVF
  KVKKSSYSKKIVKLLKKEYKEDLEKSKIKTELNSSAESEQPLDKTGHVKDTNQEDGVIIS
  EHGEDEMDMESEKEEEKPKTGGAFSNALSSLNVLRPGEIPDAAFIHAARKKRQMARELGD
  FTPHDNEPGKGRLVREDENDASDDEDDDEKRRIVFSVKEKSQRQKIAEEIGIEGSDDDAL
  VTGEQDEELSRWEQEQIRKGINIPQVQASQPAEVNMYYQNTYQTMPYGSSYGIPYSYTAY
  GSSDAKSQKTDNTVPFKTPSNEMTPVTIDLVKKQLKDRLDSMKELHKTNRQQHEKHLQSR
  VDSTRAIERLEGSSGGIGERYKFLQEMRGYVQDLLECFSEKVPLINELESAIHQLYKQRA
  SRLVQRRQDDIKDESSEFSSHSNKALMAPNLDSFGRDRALYQEHAKRRIAEREARRTRRR
  QAREQTGKMADHLEGLSSDDEETSTDITNFNLEKDRISKESGKVFEDVLESFYSIDCIKS
  QFEAWRSKYYTSYKDAYIGLCLPKLFNPLIRLQLLTWTPLEAKCRDFENMLWFESLLFYG
  CEEREQEKDDVDVALLPTIVEKVILPKLTVIAENMWDPFSTTQTSRMVGITLKLINGYPS
  VVNAENKNTQVYLKALLLRMRRTLDDDVFMPLYPKNVLENKNSGPYLFFQRQFWSSVKLL
  GNFLQWYGIFSNKTLQELSIDGLLNRYILMAFQNSEYGDDSIKKAQNVINCFPKQWFMNL
  KGERTISQLENFCRYLVHLADTIYRNSIGCSDVEKRNARENIKQIVKLLASVRALDHAMS
  VASDHNVKEFKSLIEGK

• Sequence length: 917

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
High myopia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Global developmental delay	Developmental Delay	BEFREE	28542722		★☆☆☆☆ Found in Text Mining only