PAXBP1

PAXBP1
Identifiers
Aliases	PAXBP1, BM020, C21orf66, FSAP105, GCFC, GCFC1, PAX3 and PAX7 binding protein 1
External IDs	OMIM: 617621; MGI: 1914617; HomoloGene: 9604; GeneCards: PAXBP1; OMA:PAXBP1 - orthologs
Gene location (Human)
Chr.	Chromosome 21 (human)
End	32,771,792 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	90,841,431 bp
RNA expression pattern
	Top expressed in
	sural nerve; ; sperm; ; right uterine tube; ; left ovary; ; Achilles tendon; ; tibia; ; right ovary; ; ventricular zone; ; corpus callosum; ; right hemisphere of cerebellum;
	Top expressed in
	cerebellar cortex; ; lobe of cerebellum; ; Ileal epithelium; ; cerebellar vermis; ; genital tubercle; ; neural layer of retina; ; thymus; ; dermis; ; ventricular zone; ; tail of embryo;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	RNA polymerase II cis-regulatory region sequence-specific DNA binding; transcription factor binding; DNA-binding transcription factor activity; DNA-binding transcription repressor activity, RNA polymerase II-specific; DNA binding;
Cellular component	nucleus; cytosol;
Biological process	positive regulation of transcription by RNA polymerase II; regulation of skeletal muscle satellite cell proliferation; regulation of transcription, DNA-templated; muscle organ development; positive regulation of myoblast proliferation; positive regulation of histone methylation; transcription, DNA-templated; negative regulation of transcription by RNA polymerase II;
	Sources:Amigo / QuickGO
Orthologs
	94104
	67367
	ENSG00000159086; ENSG00000263141
	ENSMUSG00000022974
	Q9Y5B6
	P58501
	NM_013329; NM_016631; NM_058191; NM_145328
	NM_026110
	NP_037461; NP_057715
	NP_080386
	Wikidata
View/Edit Human	View/Edit Mouse

GC-rich sequence DNA-binding factor homolog is a protein that in humans is encoded by the PAXBP1 gene.

Similarity to a transcriptional repressor suggests that this gene's protein product is involved in the regulation of transcription. Alternative splicing of this gene results in three transcript variants encoding different isoforms. Additional transcript variants have been described, but their full-length sequences have not been determined.