PAXBP1

GC-rich sequence DNA-binding factor homolog is a protein that in humans is encoded by the PAXBP1 gene.^[5][6][7]

AliasesPAXBP1, BM020, C21orf66, FSAP105, GCFC, GCFC1, PAX3 and PAX7 binding protein 1

External IDsOMIM: 617621; MGI: 1914617; HomoloGene: 9604; GeneCards: PAXBP1; OMA:PAXBP1 - orthologs

Chr.Chromosome 21 (human)^[1]

End32,771,792 bp^[1]

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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)[1] Band 21q22.11 Start 32,733,899 bp[1] End 32,771,792 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16|16 C3.3 Start 90,810,925 bp[2] End 90,841,431 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 94104 67367 Ensembl ENSG00000159086 ENSG00000263141 ENSMUSG00000022974 UniProt Q9Y5B6 P58501 RefSeq (mRNA) NM_013329 NM_016631 NM_058191 NM_145328 NM_026110 RefSeq (protein) NP_037461 NP_057715 NP_080386 Location (UCSC) Chr 21: 32.73 – 32.77 Mb Chr 16: 90.81 – 90.84 Mb PubMed search [3] [4]
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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.^[7]