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PAXX PAXX non-homologous end joining factor [ Homo sapiens (human) ]

Gene ID: 286257, updated on 2-Nov-2024

Summary

Official Symbol
PAXXprovided by HGNC
Official Full Name
PAXX non-homologous end joining factorprovided by HGNC
Primary source
HGNC:HGNC:27849
See related
Ensembl:ENSG00000148362 MIM:616315; AllianceGenome:HGNC:27849
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
XLS; C9orf142
Summary
The protein encoded by this gene plays a role in the nonhomologous end joining (NHEJ) pathway of DNA double-strand break repair. The encoded protein may function to stabilize the Ku70/Ku80 heterodimer to facilitate the assembly and maintain the stability of the NHEJ complex. [provided by RefSeq, Jul 2016]
Expression
Ubiquitous expression in spleen (RPKM 25.7), lymph node (RPKM 14.9) and 25 other tissues See more
Orthologs
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Genomic context

See PAXX in Genome Data Viewer
Location:
9q34.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (136992422..136993976)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (149226833..149228387)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139886874..139888428)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139873016-139873995 Neighboring gene prostaglandin D2 synthase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139878783-139879340 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139879341-139879896 Neighboring gene lipocalin like 1 Neighboring gene Sharpr-MPRA regulatory region 3127 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20564 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20565 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139887067-139887609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29337 Neighboring gene chloride intracellular channel 3 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:139904888-139906087 Neighboring gene ATP binding cassette subfamily A member 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139917045-139917624 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139922830-139923574 Neighboring gene long intergenic non-protein coding RNA 2908

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA polymerase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables molecular adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables molecular adaptor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
part_of Ku70:Ku80 complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
part_of nonhomologous end joining complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of nonhomologous end joining complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in site of double-strand break IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in site of double-strand break IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
protein PAXX
Names
XRCC4-like small protein
paralog of XRCC4 and XLF

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)

  1. NM_001329678.2NP_001316607.1  protein PAXX isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL807752
  2. NM_183241.3NP_899064.1  protein PAXX isoform 2

    See identical proteins and their annotated locations for NP_899064.1

    Status: REVIEWED

    Source sequence(s)
    BC002613
    Consensus CDS
    CCDS7020.1
    UniProtKB/Swiss-Prot
    Q8IY19, Q9BUH6
    Related
    ENSP00000360682.3, ENST00000371620.4
    Conserved Domains (1) summary
    pfam15384
    Location:8204
    PAXX; PAXX, PAralog of XRCC4 and XLF, also called C9orf142

RNA

  1. NR_138073.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL807752
  2. NR_138074.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL807752
  3. NR_138075.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL807752
  4. NR_138076.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL807752
  5. NR_138077.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL807752

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    136992422..136993976
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    149226833..149228387
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)