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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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Related Genes :
[NHEJ1 XLF] Non-homologous end-joining factor 1 (Protein cernunnos) (XRCC4-like factor)
[Nhej1 Xlf] Non-homologous end-joining factor 1 (Protein cernunnos) (XRCC4-like factor)
[XRCC4] DNA repair protein XRCC4 (hXRCC4) (X-ray repair cross-complementing protein 4) [Cleaved into: Protein XRCC4, C-terminus (XRCC4/C)]
[Nhej1 Xlf] Non-homologous end-joining factor 1 (Protein cernunnos) (XRCC4-like factor)
[Xrcc4] DNA repair protein XRCC4 (X-ray repair cross-complementing protein 4) [Cleaved into: Protein XRCC4, C-terminus (XRCC4/C)]
[PAXX C9orf142 XLS] Protein PAXX (Paralog of XRCC4 and XLF) (XRCC4-like small protein)
[Paxx] Protein PAXX (Paralog of XRCC4 and XLF)
[PRKDC HYRC HYRC1] DNA-dependent protein kinase catalytic subunit (DNA-PK catalytic subunit) (DNA-PKcs) (EC 2.7.11.1) (DNPK1) (p460)
[XRCC6 G22P1] X-ray repair cross-complementing protein 6 (EC 3.6.4.-) (EC 4.2.99.-) (5'-deoxyribose-5-phosphate lyase Ku70) (5'-dRP lyase Ku70) (70 kDa subunit of Ku antigen) (ATP-dependent DNA helicase 2 subunit 1) (ATP-dependent DNA helicase II 70 kDa subunit) (CTC box-binding factor 75 kDa subunit) (CTC75) (CTCBF) (DNA repair protein XRCC6) (Lupus Ku autoantigen protein p70) (Ku70) (Thyroid-lupus autoantigen) (TLAA) (X-ray repair complementing defective repair in Chinese hamster cells 6)
[APLF C2orf13 PALF XIP1] Aprataxin and PNK-like factor (EC 3.1.-.-) (Apurinic-apyrimidinic endonuclease APLF) (PNK and APTX-like FHA domain-containing protein) (XRCC1-interacting protein 1)
[ligD PA2138] Multifunctional non-homologous end joining protein LigD (NHEJ DNA polymerase) [Includes: 3'-phosphoesterase (3'-ribonuclease/3'-phosphatase); DNA ligase D (LigD) (EC 6.5.1.1) (Polydeoxyribonucleotide synthase [ATP]); DNA repair polymerase (Pol) (Polymerase/primase)]
[ligD MSMEG_5570 MSMEI_5419] Multifunctional non-homologous end joining protein LigD (NHEJ DNA polymerase) [Includes: DNA repair polymerase (Pol) (Polymerase/primase); 3'-phosphoesterase (3'-ribonuclease/3'-phosphatase) (PE); DNA ligase (Lig) (EC 6.5.1.1) (Polydeoxyribonucleotide synthase [ATP])]
[ligD Rv0938 MTCY08D9.01c MTCY10D7.36c] Multifunctional non-homologous end joining DNA repair protein LigD (NHEJ DNA repair protein D) (Mt-Lig) (NHEJ DNA polymerase) [Includes: DNA repair polymerase (Pol) (Polymerase/primase); 3'-phosphoesterase (3'-ribonuclease/3'-phosphatase) (PE); DNA ligase (Lig) (EC 6.5.1.1) (Polydeoxyribonucleotide synthase [ATP])]
[Aplf] Aprataxin and PNK-like factor (EC 3.1.-.-) (Apurinic-apyrimidinic endonuclease APLF)
[CYREN C7orf49 MRI] Cell cycle regulator of non-homologous end joining (Cell cycle regulator of NHEJ) (Modulator of retrovirus infection homolog)
[Cyren Mri] Cell cycle regulator of non-homologous end joining (Cell cycle regulator of NHEJ) (Modulator of retrovirus infection homolog)
[XRCC4 At3g23100 MXC7.14] DNA repair protein XRCC4
[mku Rv0937c] Non-homologous end joining protein Ku (Mt-Ku)
[ligD BQ2027_MB0963] Multifunctional non-homologous end joining protein LigD (NHEJ DNA polymerase) [Includes: DNA repair polymerase (Pol) (Polymerase/primase); 3'-phosphoesterase (3'-ribonuclease/3'-phosphatase) (PE); DNA ligase (Lig) (EC 6.5.1.1) (Polydeoxyribonucleotide synthase [ATP])]
[FBXW7 FBW7 FBX30 SEL10] F-box/WD repeat-containing protein 7 (Archipelago homolog) (hAgo) (F-box and WD-40 domain-containing protein 7) (F-box protein FBX30) (SEL-10) (hCdc4)
[FGF13 FHF2] Fibroblast growth factor 13 (FGF-13) (Fibroblast growth factor homologous factor 2) (FHF-2)
[AIFM2 AMID PRG3] Ferroptosis suppressor protein 1 (FSP1) (EC 1.6.5.-) (Apoptosis-inducing factor homologous mitochondrion-associated inducer of death) (AMID) (p53-responsive gene 3 protein)
[CD59 MIC11 MIN1 MIN2 MIN3 MSK21] CD59 glycoprotein (1F5 antigen) (20 kDa homologous restriction factor) (HRF-20) (HRF20) (MAC-inhibitory protein) (MAC-IP) (MEM43 antigen) (Membrane attack complex inhibition factor) (MACIF) (Membrane inhibitor of reactive lysis) (MIRL) (Protectin) (CD antigen CD59)
[Fbxw7 Fbw7 Fbwd6 Fbxw6] F-box/WD repeat-containing protein 7 (F-box and WD-40 domain-containing protein 7) (F-box protein FBW7) (F-box protein Fbxw6) (F-box-WD40 repeat protein 6) (SEL-10)
[LIG4] DNA ligase 4 (EC 6.5.1.1) (DNA ligase IV) (Polydeoxyribonucleotide synthase [ATP] 4)
[MYC2 BHLH6 EN38 JAI1 JIN1 RAP1 RD22BP1 ZBF1 At1g32640 F6N18.4] Transcription factor MYC2 (AtMYC2) (Basic helix-loop-helix protein 6) (AtbHLH6) (bHLH 6) (Protein JASMONATE INSENSITIVE 1) (R-homologous Arabidopsis protein 1) (RAP-1) (Transcription factor EN 38) (Z-box binding factor 1 protein) (bHLH transcription factor bHLH006) (rd22BP1)
[EIF4E2 EIF4EL3] Eukaryotic translation initiation factor 4E type 2 (eIF-4E type 2) (eIF4E type 2) (Eukaryotic translation initiation factor 4E homologous protein) (Eukaryotic translation initiation factor 4E-like 3) (eIF4E-like protein 4E-LP) (mRNA cap-binding protein 4EHP) (h4EHP) (mRNA cap-binding protein type 3)
[APLF] Aprataxin and PNK-like factor (EC 3.1.1.-) (Apurinic-apyrimidinic endonuclease APLF)
[FBXW7 FBW7] F-box/WD repeat-containing protein 7 (F-box and WD-40 domain-containing protein 7)
[Fbxw7] F-box/WD repeat-containing protein 7

Bibliography :
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