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Protein

Protein PAXX

Gene

C9orf142

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in non-homologous end joining (NHEJ), a major pathway to repair double-strand breaks in DNA. May act as a scaffold required to stabilize the Ku heterodimer, composed of XRCC5/Ku80 and XRCC6/Ku70, at double-strand break sites and promote the assembly and/or stability of the NHEJ machinery.3 Publications

GO - Molecular functioni

  • protein complex scaffold Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB

GO - Biological processi

  • cellular response to DNA damage stimulus Source: UniProtKB
  • DNA ligation involved in DNA repair Source: UniProtKB
  • double-strand break repair via nonhomologous end joining Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

DNA damage, DNA repair

Names & Taxonomyi

Protein namesi
Recommended name:
Protein PAXXCurated
Alternative name(s):
Paralog of XRCC4 and XLF1 Publication
XRCC4-like small protein1 Publication
Gene namesi
Name:C9orf142Imported
Synonyms:PAXX1 Publication, XLS1 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:27849. C9orf142.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • nonhomologous end joining complex Source: UniProtKB
  • nucleus Source: UniProtKB
  • site of double-strand break Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi96 – 10914LTLSG…LAFDL → DTDSGGPSADAFDD: Loss of function in DNA non-homologous end joining (NHEJ). 1 PublicationAdd
BLAST
Mutagenesisi177 – 1793RRR → AAA: Abolishes the association with the non-homologous end joining complex. 1 Publication
Mutagenesisi186 – 1872IN → AA: Abolishes the association with the non-homologous end joining complex. 1 Publication
Mutagenesisi199 – 2013VDF → ADA: Abolishes interaction with XRCC5/Ku80 and XRCC6/Ku70. 1 Publication
Mutagenesisi201 – 2011F → A: Abolishes the association with the non-homologous end joining complex and localization to double-strand break sites. 1 Publication

Organism-specific databases

PharmGKBiPA143485344.

Polymorphism and mutation databases

BioMutaiC9orf142.
DMDMi74752355.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 204204Protein PAXXPRO_0000286104Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei148 – 1481PhosphoserineCombined sources
Modified residuei152 – 1521PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9BUH6.
MaxQBiQ9BUH6.
PaxDbiQ9BUH6.
PeptideAtlasiQ9BUH6.
PRIDEiQ9BUH6.

PTM databases

iPTMnetiQ9BUH6.
PhosphoSiteiQ9BUH6.

Expressioni

Gene expression databases

BgeeiENSG00000148362.
CleanExiHS_C9orf142.
GenevisibleiQ9BUH6. HS.

Organism-specific databases

HPAiHPA045268.

Interactioni

Subunit structurei

Homodimer. Interacts with the DNA-bound XRCC5/Ku80 and XRCC6/Ku70 heterodimer (Ku complex); the interaction is direct. Associates with the non-homologous end joining (NHEJ) complex which is at least composed of the core proteins XRCC5/Ku80, XRCC6/Ku70, PRKDC/DNA-PKcs, LIG4 and XRCC4. Additional components of the NHEJ complex include NHEJ1/XLF and C9orf142/PAXX.3 Publications

GO - Molecular functioni

  • protein complex scaffold Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi130343. 6 interactions.
DIPiDIP-61486N.
IntActiQ9BUH6. 4 interactions.

Structurei

Secondary structure

1
204
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi8 – 125Combined sources
Beta strandi14 – 163Combined sources
Beta strandi20 – 256Combined sources
Beta strandi30 – 323Combined sources
Beta strandi38 – 425Combined sources
Beta strandi44 – 496Combined sources
Helixi54 – 6411Combined sources
Helixi73 – 8210Combined sources
Beta strandi85 – 906Combined sources
Beta strandi93 – 986Combined sources
Beta strandi100 – 1034Combined sources
Beta strandi105 – 1117Combined sources
Helixi114 – 14027Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3WTDX-ray2.35A/B1-166[»]
3WTFX-ray3.45A/B1-204[»]
4WJAX-ray2.60A/B1-145[»]
ProteinModelPortaliQ9BUH6.
SMRiQ9BUH6. Positions 5-145.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini37 – 7943PISACuratedAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni171 – 20434Mediates interaction with XRCC5/Ku80 and XRCC6/Ku70 and association with the non-homologous end joining core complex1 PublicationAdd
BLAST

Domaini

The N-terminus (residues 1-113) forms a head domain that is structurally related to those of XRCC4, XLF/NHEJ1, and SASS6.1 Publication

Sequence similaritiesi

Contains 1 PISA domain.Curated

Phylogenomic databases

eggNOGiENOG410IY9E. Eukaryota.
ENOG410Y7F5. LUCA.
GeneTreeiENSGT00390000000543.
HOGENOMiHOG000294194.
HOVERGENiHBG101209.
InParanoidiQ9BUH6.
OMAiLWSTCFT.
OrthoDBiEOG091G14JY.
PhylomeDBiQ9BUH6.
TreeFamiTF337247.

Family and domain databases

InterProiIPR027873. PAXX.
[Graphical view]
PfamiPF15384. PAXX. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BUH6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDPLSPPLCT LPPGPEPPRF VCYCEGEESG EGDRGGFNLY VTDAAELWST
60 70 80 90 100
CFTPDSLAAL KARFGLSAAE DITPRFRAAC EQQAVALTLQ EDRASLTLSG
110 120 130 140 150
GPSALAFDLS KVPGPEAAPR LRALTLGLAK RVWSLERRLA AAEETAVSPR
160 170 180 190 200
KSPRPAGPQL FLPDPDPQRG GPGPGVRRRC PGESLINPGF KSKKPAGGVD

FDET
Length:204
Mass (Da):21,640
Last modified:March 1, 2004 - v2
Checksum:i5F9737ED9463B6BE
GO
Isoform 2 (identifier: Q9BUH6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     61-106: KARFGLSAAE...TLSGGPSALA → VGNWAGLGAA...PPCSCSPPIG
     107-204: Missing.

Note: No experimental confirmation available.
Show »
Length:106
Mass (Da):11,004
Checksum:iE5CE5D945485426C
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei61 – 10646KARFG…PSALA → VGNWAGLGAATPLLAVQIVY GATDIWDSPEGSDTLCPPCS CSPPIG in isoform 2. 1 PublicationVSP_024996Add
BLAST
Alternative sequencei107 – 20498Missing in isoform 2. 1 PublicationVSP_024997Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL807752 Genomic DNA. Translation: CAI12761.1.
BC002613 mRNA. Translation: AAH02613.2.
BC038191 mRNA. Translation: AAH38191.1.
CCDSiCCDS7020.1. [Q9BUH6-1]
RefSeqiNP_899064.1. NM_183241.1. [Q9BUH6-1]
UniGeneiHs.409582.

Genome annotation databases

EnsembliENST00000371620; ENSP00000360682; ENSG00000148362. [Q9BUH6-1]
GeneIDi286257.
KEGGihsa:286257.
UCSCiuc004cki.3. human. [Q9BUH6-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL807752 Genomic DNA. Translation: CAI12761.1.
BC002613 mRNA. Translation: AAH02613.2.
BC038191 mRNA. Translation: AAH38191.1.
CCDSiCCDS7020.1. [Q9BUH6-1]
RefSeqiNP_899064.1. NM_183241.1. [Q9BUH6-1]
UniGeneiHs.409582.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3WTDX-ray2.35A/B1-166[»]
3WTFX-ray3.45A/B1-204[»]
4WJAX-ray2.60A/B1-145[»]
ProteinModelPortaliQ9BUH6.
SMRiQ9BUH6. Positions 5-145.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi130343. 6 interactions.
DIPiDIP-61486N.
IntActiQ9BUH6. 4 interactions.

PTM databases

iPTMnetiQ9BUH6.
PhosphoSiteiQ9BUH6.

Polymorphism and mutation databases

BioMutaiC9orf142.
DMDMi74752355.

Proteomic databases

EPDiQ9BUH6.
MaxQBiQ9BUH6.
PaxDbiQ9BUH6.
PeptideAtlasiQ9BUH6.
PRIDEiQ9BUH6.

Protocols and materials databases

DNASUi286257.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371620; ENSP00000360682; ENSG00000148362. [Q9BUH6-1]
GeneIDi286257.
KEGGihsa:286257.
UCSCiuc004cki.3. human. [Q9BUH6-1]

Organism-specific databases

CTDi286257.
GeneCardsiC9orf142.
H-InvDBHIX0201397.
HGNCiHGNC:27849. C9orf142.
HPAiHPA045268.
MIMi616315. gene.
neXtProtiNX_Q9BUH6.
PharmGKBiPA143485344.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IY9E. Eukaryota.
ENOG410Y7F5. LUCA.
GeneTreeiENSGT00390000000543.
HOGENOMiHOG000294194.
HOVERGENiHBG101209.
InParanoidiQ9BUH6.
OMAiLWSTCFT.
OrthoDBiEOG091G14JY.
PhylomeDBiQ9BUH6.
TreeFamiTF337247.

Miscellaneous databases

GenomeRNAii286257.
PROiQ9BUH6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000148362.
CleanExiHS_C9orf142.
GenevisibleiQ9BUH6. HS.

Family and domain databases

InterProiIPR027873. PAXX.
[Graphical view]
PfamiPF15384. PAXX. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPAXX_HUMAN
AccessioniPrimary (citable) accession number: Q9BUH6
Secondary accession number(s): Q8IY19
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: March 1, 2004
Last modified: September 7, 2016
This is version 109 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.