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PAXBP1 PAX3 and PAX7 binding protein 1 [ Homo sapiens (human) ]

Gene ID: 94104, updated on 29-Mar-2020

Summary

Official Symbol
PAXBP1provided by HGNC
Official Full Name
PAX3 and PAX7 binding protein 1provided by HGNC
Primary source
HGNC:HGNC:13579
See related
Ensembl:ENSG00000159086 MIM:617621
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GCFC; BM020; GCFC1; FSAP105; C21orf66
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]
Expression
Ubiquitous expression in bone marrow (RPKM 19.2), ovary (RPKM 10.2) and 25 other tissues See more
Orthologs

Genomic context

See PAXBP1 in Genome Data Viewer
Location:
21q22.11
Exon count:
20
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (32733899..32771858, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (34106210..34144169, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 7 subfamily E member 23 pseudogene Neighboring gene synaptojanin 1 Neighboring gene PAXBP1 antisense RNA 1 Neighboring gene C21orf62 antisense RNA 1 Neighboring gene chromosome 21 open reading frame 62 Neighboring gene VISTA enhancer hs1548

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Rev rev HIV-1 Rev interacting protein, GC-rich sequence DNA-binding factor 1 (GCFC1), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ90561

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II proximal promoter sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
muscle organ development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of histone methylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of myoblast proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of skeletal muscle satellite cell proliferation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol HDA PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
PAX3- and PAX7-binding protein 1
Names
GC-rich sequence DNA-binding factor 1
GC-rich sequence DNA-binding factor candidate
functional spliceosome-associated protein 105

NCBI Reference Sequences (RefSeq)

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)

  1. NM_013329.4NP_037461.2  PAX3- and PAX7-binding protein 1 isoform 2

    See identical proteins and their annotated locations for NP_037461.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AF153208, BC005213, BC030539, BC062992
    Consensus CDS
    CCDS33541.1
    UniProtKB/Swiss-Prot
    Q9Y5B6
    UniProtKB/TrEMBL
    Q8N6E6
    Related
    ENSP00000290178.4, ENST00000290178.4
    Conserved Domains (1) summary
    pfam07842
    Location:595771
    GCFC; GC-rich sequence DNA-binding factor-like protein
  2. NM_016631.4NP_057715.2  PAX3- and PAX7-binding protein 1 isoform 1

    See identical proteins and their annotated locations for NP_057715.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    BC030539, BC062992
    Consensus CDS
    CCDS13619.1
    UniProtKB/Swiss-Prot
    Q9Y5B6
    UniProtKB/TrEMBL
    Q8N6E6
    Related
    ENSP00000328992.4, ENST00000331923.9
    Conserved Domains (1) summary
    pfam07842
    Location:595806
    GCFC; GC-rich sequence DNA-binding factor-like protein

RNA

  1. NR_027873.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AY033906, BC062992

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    32733899..32771858 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724066.2XP_006724129.1  PAX3- and PAX7-binding protein 1 isoform X1

    Conserved Domains (1) summary
    pfam07842
    Location:595771
    GCFC; GC-rich sequence DNA-binding factor-like protein
  2. XM_011529804.3XP_011528106.1  PAX3- and PAX7-binding protein 1 isoform X2

    Conserved Domains (1) summary
    pfam07842
    Location:595641
    GCFC; GC-rich sequence DNA-binding factor-like protein

RNA

  1. XR_001754920.2 RNA Sequence

  2. XR_001754919.2 RNA Sequence

  3. XR_001754921.2 RNA Sequence

  4. XR_002958635.1 RNA Sequence

  5. XR_001754922.2 RNA Sequence

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003315969.2 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    727..2780 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_058191.3: Suppressed sequence

    Description
    NM_058191.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  2. NM_145328.1: Suppressed sequence

    Description
    NM_145328.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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