Paxbp1 PAX3 and PAX7 binding protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Paxbp1provided by MGI
Official Full Name: PAX3 and PAX7 binding protein 1provided by MGI
Primary source: MGI:MGI:1914617
See related: Ensembl:ENSMUSG00000022974 AllianceGenome:MGI:1914617
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gcfc; Gcfc1; C21orf66; Pax3/7bp; 1810007M14Rik
Summary: Predicted to enable DNA binding activity. Acts upstream of or within positive regulation of myoblast proliferation; positive regulation of nitrogen compound metabolic process; and regulation of skeletal muscle satellite cell proliferation. Located in nucleus. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Orthologous to human PAXBP1 (PAX3 and PAX7 binding protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in CNS E11.5 (RPKM 28.4), CNS E14 (RPKM 26.4) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16; 16 C3.3

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2023_04	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (90810925..90841267, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (91014037..91044379, complement)

Chromosome 16 - NC_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Paxbp1 controls a key checkpoint for cell growth and survival during early activation of quiescent muscle satellite cells.
Title: Paxbp1 controls a key checkpoint for cell growth and survival during early activation of quiescent muscle satellite cells.
Pax3/7BP as an essential adaptor linking Pax3/7 with the histone 3 lysine 4 (H3K4) methyltransferase to regulate the proliferation of muscle precursor cells
Title: Pax3/7BP is a Pax7- and Pax3-binding protein that regulates the proliferation of muscle precursor cells by an epigenetic mechanism.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

REN82359 (e-PCR)
- UniSTS:407157

1810007M14Rik (e-PCR), detects polymorphism
- UniSTS:259018

1810007M14Rik (e-PCR), detects polymorphism
- UniSTS:259567

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables histone methyltransferase binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in mRNA splicing, via spliceosome	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within muscle organ development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of myoblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of skeletal muscle satellite cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: PAX3- and PAX7-binding protein 1

Names: GC-rich sequence DNA-binding factor 1; GC-rich sequence DNA-binding factor homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_026110.2 → NP_080386.3 PAX3- and PAX7-binding protein 1

See identical proteins and their annotated locations for NP_080386.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the functional protein.

Source sequence(s)

AC141885

Consensus CDS

CCDS49908.1

UniProtKB/Swiss-Prot

P58501, Q9CRB7

Related

ENSMUSP00000113835.2, ENSMUST00000118522.8

Conserved Domains (1) summary

pfam07842
Location:597 → 808

GCFC; GC-rich sequence DNA-binding factor-like protein

RNA

NR_152264.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' region compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC141885