Non-homologous end-joining factor 1 (Protein cernunnos) (XRCC4-like factor)

 NHEJ1_RAT               Reviewed;         304 AA.
 Q6AYI4;
 21-MAR-2006, integrated into UniProtKB/Swiss-Prot.
 13-SEP-2004, sequence version 1.
 23-FEB-2022, entry version 102.
 RecName: Full=Non-homologous end-joining factor 1 {ECO:0000305};
 AltName: Full=Protein cernunnos {ECO:0000250|UniProtKB:Q9H9Q4};
 AltName: Full=XRCC4-like factor {ECO:0000250|UniProtKB:Q9H9Q4};
 Name=Nhej1 {ECO:0000312|RGD:1359338};
 Synonyms=Xlf {ECO:0000250|UniProtKB:Q9H9Q4};
 Rattus norvegicus (Rat).
 Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
 Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
 Murinae; Rattus.
 NCBI_TaxID=10116;
 [1]
 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
 TISSUE=Testis;
 PubMed=15489334; DOI=10.1101/gr.2596504;
 The MGC Project Team;
 "The status, quality, and expansion of the NIH full-length cDNA project:
 the Mammalian Gene Collection (MGC).";
 Genome Res. 14:2121-2127(2004).
 -!- FUNCTION: DNA repair protein involved in DNA non-homologous end joining
     (NHEJ); required for double-strand break (DSB) repair and V(D)J
     recombination. Plays a key role in NHEJ by promoting the ligation of
     various mismatched and non-cohesive ends. Together with PAXX,
     collaborates with DNA polymerase lambda (POLL) to promote joining of
     non-cohesive DNA ends. May act in concert with XRCC5-XRCC6 (Ku) to
     stimulate XRCC4-mediated joining of blunt ends and several types of
     mismatched ends that are non-complementary or partially complementary.
     Associates with XRCC4 to form alternating helical filaments that bridge
     DNA and act like a bandage, holding together the broken DNA until it is
     repaired. The XRCC4-NHEJ1/XLF subcomplex binds to the DNA fragments of
     a DSB in a highly diffusive manner and robustly bridges two independent
     DNA molecules, holding the broken DNA fragments in close proximity to
     one other. The mobility of the bridges ensures that the ends remain
     accessible for further processing by other repair factors. Binds DNA in
     a length-dependent manner. {ECO:0000250|UniProtKB:Q9H9Q4}.
 -!- SUBUNIT: Homodimer; mainly exists as a homodimer when not associated
     with XRCC4. Interacts with XRCC4; the interaction is direct and is
     mediated via a head-to-head interaction between N-terminal head
     regions. Component of the core long-range non-homologous end joining
     (NHEJ) complex (also named DNA-PK complex) composed of PRKDC, LIG4,
     XRCC4, XRCC6/Ku70, XRCC5/Ku86 and NHEJ1/XLF. Additional component of
     the NHEJ complex includes PAXX. Following autophosphorylation, PRKDC
     dissociates from DNA, leading to formation of the short-range NHEJ
     complex, composed of LIG4, XRCC4, XRCC6/Ku70, XRCC5/Ku86 and NHEJ1/XLF.
     Interacts with POLL (DNA polymerase lambda); promoting POLL recruitment
     to double-strand breaks (DSBs) and stimulation of the end-filling
     activity of POLL. {ECO:0000250|UniProtKB:Q9H9Q4}.
 -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q9H9Q4}.
     Chromosome {ECO:0000250|UniProtKB:Q9H9Q4}. Note=Localizes to site of
     double-strand breaks; recruitment is dependent on XRCC5-XRCC6 (Ku)
     heterodimer. {ECO:0000250|UniProtKB:Q9H9Q4}.
 -!- DOMAIN: The coiled-coil region mediates homodimerization.
     {ECO:0000250|UniProtKB:Q9H9Q4}.
 -!- DOMAIN: The Leu-lock (Leu-120) site inserts into a hydrophobic pocket
     in XRCC4. {ECO:0000250|UniProtKB:Q9H9Q4}.
 -!- PTM: Phosphorylated by PRKDC at the C-terminus in response to DNA
     damage. Phosphorylation by PRKDC at the C-terminus of XRCC4 and
     NHEJ1/XLF are highly redundant and regulate ability of the XRCC4-
     NHEJ1/XLF subcomplex to bridge DNA. Phosphorylation does not prevent
     interaction with XRCC4 but disrupts ability to bridge DNA and promotes
     detachment from DNA. {ECO:0000250|UniProtKB:Q9H9Q4}.
 -!- SIMILARITY: Belongs to the XRCC4-XLF family. XLF subfamily.
     {ECO:0000305}.
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 EMBL; BC079033; AAH79033.1; -; mRNA.
 RefSeq; NP_001014239.1; NM_001014217.1.
 RefSeq; XP_006245302.1; XM_006245240.1.
 RefSeq; XP_006245303.1; XM_006245241.3.
 RefSeq; XP_006245304.1; XM_006245242.3.
 SMR; Q6AYI4; -.
 STRING; 10116.ENSRNOP00000024444; -.
 iPTMnet; Q6AYI4; -.
 PhosphoSitePlus; Q6AYI4; -.
 PaxDb; Q6AYI4; -.
 Ensembl; ENSRNOT00000024444; ENSRNOP00000024444; ENSRNOG00000018162.
 GeneID; 363251; -.
 KEGG; rno:363251; -.
 UCSC; RGD:1359338; rat.
 CTD; 79840; -.
 RGD; 1359338; Nhej1.
 eggNOG; ENOG502S0R3; Eukaryota.
 GeneTree; ENSGT00390000009940; -.
 HOGENOM; CLU_076115_1_0_1; -.
 InParanoid; Q6AYI4; -.
 OMA; FGETAYH; -.
 OrthoDB; 1397591at2759; -.
 PhylomeDB; Q6AYI4; -.
 TreeFam; TF328567; -.
 Reactome; R-RNO-5693571; Nonhomologous End-Joining (NHEJ).
 PRO; PR:Q6AYI4; -.
 Proteomes; UP000002494; Chromosome 9.
 Bgee; ENSRNOG00000018162; Expressed in testis and 21 other tissues.
 Genevisible; Q6AYI4; RN.
 GO; GO:0032807; C:DNA ligase IV complex; IBA:GO_Central.
 GO; GO:0070419; C:nonhomologous end joining complex; ISS:UniProtKB.
 GO; GO:0005634; C:nucleus; ISS:UniProtKB.
 GO; GO:0035861; C:site of double-strand break; ISS:UniProtKB.
 GO; GO:0045027; F:DNA end binding; ISS:UniProtKB.
 GO; GO:0070182; F:DNA polymerase binding; ISO:RGD.
 GO; GO:0030183; P:B cell differentiation; ISS:UniProtKB.
 GO; GO:0051103; P:DNA ligation involved in DNA repair; ISO:RGD.
 GO; GO:0006303; P:double-strand break repair via nonhomologous end joining; ISS:UniProtKB.
 GO; GO:0033152; P:immunoglobulin V(D)J recombination; ISS:UniProtKB.
 GO; GO:0010212; P:response to ionizing radiation; ISS:UniProtKB.
 GO; GO:0030217; P:T cell differentiation; ISS:UniProtKB.
 Gene3D; 2.170.210.10; -; 1.
 InterPro; IPR015381; XLF_N.
 InterPro; IPR038051; XRCC4-like_N_sf.
 Pfam; PF09302; XLF; 1.
 2: Evidence at transcript level;
 Chromosome; Coiled coil; DNA damage; DNA repair; DNA-binding; Nucleus;
 Phosphoprotein; Reference proteome.
 CHAIN           1..304
                 /note="Non-homologous end-joining factor 1"
                 /id="PRO_0000228656"
 REGION          1..140
                 /note="Globular head"
                 /evidence="ECO:0000250|UniProtKB:Q9H9Q4"
 REGION          233..304
                 /note="Disordered"
                 /evidence="ECO:0000256|SAM:MobiDB-lite"
 COILED          133..175
                 /evidence="ECO:0000250|UniProtKB:Q9H9Q4"
 MOTIF           294..304
                 /note="XLM"
                 /evidence="ECO:0000250|UniProtKB:Q9H9Q4"
 COMPBIAS        233..272
                 /note="Polar residues"
                 /evidence="ECO:0000256|SAM:MobiDB-lite"
 COMPBIAS        290..304
                 /note="Basic residues"
                 /evidence="ECO:0000256|SAM:MobiDB-lite"
 SITE            120
                 /note="Leu-lock"
                 /evidence="ECO:0000250|UniProtKB:Q9H9Q4"
 MOD_RES         137
                 /note="Phosphoserine"
                 /evidence="ECO:0000250|UniProtKB:Q9H9Q4"
 MOD_RES         250
                 /note="Phosphoserine"
                 /evidence="ECO:0000250|UniProtKB:Q3KNJ2"
 MOD_RES         256
                 /note="Phosphoserine"
                 /evidence="ECO:0000250|UniProtKB:Q9H9Q4"
 MOD_RES         271
                 /note="Phosphothreonine"
                 /evidence="ECO:0000250|UniProtKB:Q9H9Q4"
 SEQUENCE   304 AA;  33885 MW;  DDB56676EB94B4DD CRC64;
 MEELEQGLLM QPWAWLQLAE NSLLAKASIT KHGYALLISD LQQVWHEQVD TLEVSQRAKE
 LNKRLTAPPA AFLHHLDEVL RPLFKDSAHQ DAAHPSKATF SCDRGEEVLI LRVRSELSGL
 PFNWHFHCLP ASSLLVSQHL ICPLMGVSLA LHSHVRELAA LLRMKDLEIQ AYQESGAVLS
 RGRLKTEPFE ENSFLEQFMV EKLPEACAVG DGRPFAMNLQ SLYVAVTKQQ VQARQKHKGS
 GEPQTSSSTS PQGTDSQLQN QPEQQISPTP TLSEPECEPM AASGPVHRAQ LVKAKRKKPR
 GLFS

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