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] See more...

Aliases for PAXBP1 Gene

Aliases for PAXBP1 Gene

  • PAX3 And PAX7 Binding Protein 1 2 3 5
  • GC-Rich Sequence DNA-Binding Factor 1 2 3 4
  • GC-Rich Sequence DNA-Binding Factor Candidate 2 3
  • Functional Spliceosome-Associated Protein 105 2 3
  • PAX3- And PAX7-Binding Protein 1 3 4
  • C21orf66 3 4
  • GCFC1 3 4
  • GCFC 3 4
  • Chromosome 21 Open Reading Frame 66 2
  • FSAP105 3
  • BM020 3

External Ids for PAXBP1 Gene

Previous HGNC Symbols for PAXBP1 Gene

  • C21orf66
  • GCFC1

Previous GeneCards Identifiers for PAXBP1 Gene

  • GC21M034108

Summaries for PAXBP1 Gene

Entrez Gene Summary for PAXBP1 Gene

  • 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]

GeneCards Summary for PAXBP1 Gene

PAXBP1 (PAX3 And PAX7 Binding Protein 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is GCFC2.

UniProtKB/Swiss-Prot Summary for PAXBP1 Gene

  • 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 'Lys-4' of histone H3. Mediates the recruitment of that complex to the transcription factors PAX3 and PAX7 on chromatin to regulate the expression of genes involved in muscle progenitor cells proliferation including ID3 and CDC20 (By similarity).

Gene Wiki entry for PAXBP1 Gene

Additional gene information for PAXBP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PAXBP1 Gene

Genomics for PAXBP1 Gene

GeneHancer (GH) Regulatory Elements for PAXBP1 Gene

Promoters and enhancers for PAXBP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PAXBP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PAXBP1

Genomic Locations for PAXBP1 Gene

Genomic Locations for PAXBP1 Gene
chr21:32,733,899-32,771,858
(GRCh38/hg38)
Size:
37,960 bases
Orientation:
Minus strand
chr21:34,106,210-34,144,169
(GRCh37/hg19)
Size:
37,960 bases
Orientation:
Minus strand

Genomic View for PAXBP1 Gene

Genes around PAXBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAXBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAXBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAXBP1 Gene

Proteins for PAXBP1 Gene

  • Protein details for PAXBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5B6-PAXB1_HUMAN
    Recommended name:
    PAX3- and PAX7-binding protein 1
    Protein Accession:
    Q9Y5B6
    Secondary Accessions:
    • D3DSE7
    • Q96DU8
    • Q9NYQ0

    Protein attributes for PAXBP1 Gene

    Size:
    917 amino acids
    Molecular mass:
    104804 Da
    Quaternary structure:
    • Interacts with PAX3 and PAX7. Interacts with WDR5; associates with a histone methyltransferase (HMT) complex composed at least of RBBP5, ASH2L, SET1, SET2 and KMT2A/MLL1, KMT2D/MLL2, KMT2C/MLL3 and KMT2B/MLL4 through direct interaction with WDR5 (By similarity).
    Miscellaneous:
    • [Isoform 4]: Most abundantly expressed isoform, at mRNA level according to PubMed:11707072, despite the presence of a premature stop codon in the mRNA that may lead to nonsense-mediated mRNA decay.
    SequenceCaution:
    • Sequence=AAD34617.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};

    Alternative splice isoforms for PAXBP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PAXBP1 Gene

Post-translational modifications for PAXBP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PAXBP1 Gene

No data available for DME Specific Peptides for PAXBP1 Gene

Domains & Families for PAXBP1 Gene

Gene Families for PAXBP1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PAXBP1 Gene

Blocks:
  • GC-rich sequence DNA-binding factor-like
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PAXBP1 Gene

GenScript: Design optimal peptide antigens:
  • GC-rich sequence DNA-binding factor 1 (GCFC1_HUMAN)
  • C21orf66 protein (Q5XGA1_HUMAN)
  • C21orf66 protein (Q8N6E6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y5B6

UniProtKB/Swiss-Prot:

PAXB1_HUMAN :
  • Belongs to the GCF family.
Family:
  • Belongs to the GCF family.
genes like me logo Genes that share domains with PAXBP1: view

Function for PAXBP1 Gene

Molecular function for PAXBP1 Gene

UniProtKB/Swiss-Prot 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 'Lys-4' of histone H3. Mediates the recruitment of that complex to the transcription factors PAX3 and PAX7 on chromatin to regulate the expression of genes involved in muscle progenitor cells proliferation including ID3 and CDC20 (By similarity).

Phenotypes From GWAS Catalog for PAXBP1 Gene

Gene Ontology (GO) - Molecular Function for PAXBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IEA --
GO:0008134 transcription factor binding IEA --
genes like me logo Genes that share ontologies with PAXBP1: view
genes like me logo Genes that share phenotypes with PAXBP1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PAXBP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PAXBP1 Gene

Localization for PAXBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAXBP1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PAXBP1 gene
Compartment Confidence
nucleus 4
mitochondrion 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PAXBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA 21873635
GO:0005829 cytosol HDA 16780588
genes like me logo Genes that share ontologies with PAXBP1: view

Pathways & Interactions for PAXBP1 Gene

PathCards logo

SuperPathways for PAXBP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PAXBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007517 muscle organ development IEA --
GO:0014842 regulation of skeletal muscle satellite cell proliferation IEA --
GO:0031062 positive regulation of histone methylation IEA --
genes like me logo Genes that share ontologies with PAXBP1: view

No data available for Pathways by source and SIGNOR curated interactions for PAXBP1 Gene

Drugs & Compounds for PAXBP1 Gene

No Compound Related Data Available

Transcripts for PAXBP1 Gene

mRNA/cDNA for PAXBP1 Gene

4 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PAXBP1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PAXBP1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b
SP1: - - - - -
SP2: - - - -
SP3: - - - -
SP4: - -
SP5: -
SP6:

Relevant External Links for PAXBP1 Gene

GeneLoc Exon Structure for
PAXBP1

Expression for PAXBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PAXBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PAXBP1 Gene

This gene is overexpressed in Adrenal (10.6) and CD8 Tcells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PAXBP1 Gene



Protein tissue co-expression partners for PAXBP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PAXBP1

SOURCE GeneReport for Unigene cluster for PAXBP1 Gene:

Hs.644004

mRNA Expression by UniProt/SwissProt for PAXBP1 Gene:

Q9Y5B6-PAXB1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for PAXBP1 Gene

  • Heart(4.2)
  • Kidney(4.2)
  • Liver(4.2)
  • Lung(4.2)
  • Muscle(4.2)
  • Nervous system(4.2)
  • Bone marrow(2.4)
genes like me logo Genes that share expression patterns with PAXBP1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PAXBP1 Gene

Orthologs for PAXBP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PAXBP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GCFC1 31 30
  • 99.85 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GCFC 31
  • 96 (a)
OneToOne
GCFC1 30
  • 92.55 (n)
dog
(Canis familiaris)
Mammalia PAXBP1 31 30
  • 94.18 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PAXBP1 31
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Paxbp1 17 31 30
  • 89.79 (n)
rat
(Rattus norvegicus)
Mammalia Paxbp1 30
  • 89.6 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PAXBP1 31
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves PAXBP1 31
  • 85 (a)
OneToOne
GCFC1 30
  • 82.37 (n)
lizard
(Anolis carolinensis)
Reptilia PAXBP1 31
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia paxbp1 30
  • 70.72 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14832 30
zebrafish
(Danio rerio)
Actinopterygii zgc:158234 30
  • 61.14 (n)
PAXBP1 31
  • 57 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1965 31 30
  • 46.97 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002035 30
  • 43.86 (n)
worm
(Caenorhabditis elegans)
Secernentea F43G9.12 31 30
  • 43.78 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 32 (a)
OneToMany
Species where no ortholog for PAXBP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PAXBP1 Gene

ENSEMBL:
Gene Tree for PAXBP1 (if available)
TreeFam:
Gene Tree for PAXBP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PAXBP1: view image

Paralogs for PAXBP1 Gene

Paralogs for PAXBP1 Gene

(2) SIMAP similar genes for PAXBP1 Gene using alignment to 3 proteins:

  • PAXB1_HUMAN
  • H7BZC8_HUMAN
  • H7C2W4_HUMAN

Pseudogenes.org Pseudogenes for PAXBP1 Gene

genes like me logo Genes that share paralogs with PAXBP1: view

Variants for PAXBP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PAXBP1 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
777615 Benign: not provided 32,744,819(-) T/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
rs1569159832 Uncertain Significance: not provided 32,751,028(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs781563968 Uncertain Significance: Severe Myopia 32,764,512(-) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
VAR_079417 - p.Arg538Cys

Additional dbSNP identifiers (rs#s) for PAXBP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PAXBP1 Gene

Variant ID Type Subtype PubMed ID
esv2268996 CNV deletion 18987734
esv2723346 CNV deletion 23290073
esv2723347 CNV deletion 23290073
esv2740731 CNV deletion 23290073
esv3646891 CNV gain 21293372
nsv1112360 CNV deletion 24896259
nsv834086 CNV loss 17160897

Variation tolerance for PAXBP1 Gene

Residual Variation Intolerance Score: 4.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.15; 39.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PAXBP1 Gene

Human Gene Mutation Database (HGMD)
PAXBP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAXBP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAXBP1 Gene

Disorders for PAXBP1 Gene

Additional Disease Information for PAXBP1

No disorders were found for PAXBP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PAXBP1 Gene

Publications for PAXBP1 Gene

  1. From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map. (PMID: 11707072) Reymond A … Antonarakis SE (Genomics 2001) 2 3 4 54
  2. A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia. (PMID: 28542722) Alharby E … Basit S (Clinical genetics 2017) 3 4 54
  3. Pax3/7BP is a Pax7- and Pax3-binding protein that regulates the proliferation of muscle precursor cells by an epigenetic mechanism. (PMID: 22862948) Diao Y … Wu Z (Cell stem cell 2012) 2 3 54
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54
  5. Criteria for gene identification and features of genome organization: analysis of 6.5 Mb of DNA sequence from human chromosome 21. (PMID: 10773462) Slavov D … Gardiner K (Gene 2000) 3 4 54

Products for PAXBP1 Gene

Sources for PAXBP1 Gene