Q3KNJ2 (NHEJ1_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Non-homologous end-joining factor 1

Alternative name(s):
Protein cernunnos
XRCC4-like factor

Gene names

Name:	Nhej1
Synonyms:	Xlf

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	295 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	DNA repair protein involved in DNA nonhomologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. May serve as a bridge between XRCC4 and the other NHEJ factors located at DNA ends, or may participate in reconfiguration of the end bound NHEJ factors to allow XRCC4 access to the DNA termini. It may act in concert with XRCC6/XRCC5 (Ku) to stimulate XRCC4-mediated joining of blunt ends and several types of mismatched ends that are noncomplementary or partially complementary. Ref.3
Subunit structure	Interacts with XRCC4 and the XRCC4-LIG4 complex. Binds DNA in a length-dependent manner By similarity.
Subcellular location	Nucleus By similarity.
Disruption phenotype	Embryonic stem cells are highly sensitive to ionizing radiation and have intrinsic DNA double-strand break repair defects. Ref.3
Sequence similarities	Belongs to the XLF family.
Sequence caution	The sequence BAB24611.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	DNA damage DNA repair
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Ligand	DNA-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	B cell differentiation Inferred from sequence or structural similarity PubMed 16439204. Source: UniProtKB DNA recombination Inferred from electronic annotation. Source: InterPro T cell differentiation Inferred from sequence or structural similarity PubMed 16439204. Source: UniProtKB double-strand break repair via nonhomologous end joining Inferred from sequence or structural similarity PubMed 16439204PubMed 16439205. Source: UniProtKB response to ionizing radiation Inferred from sequence or structural similarity PubMed 16439205. Source: UniProtKB
Cellular_component	nonhomologous end joining complex Inferred from sequence or structural similarity. Source: UniProtKB nucleus Inferred from sequence or structural similarity PubMed 16439204PubMed 16439205. Source: UniProtKB
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q3KNJ2-1)

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.

Isoform 2 (identifier: Q3KNJ2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     131-196: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 295	295	Non-homologous end-joining factor 1		PRO_0000228655
Natural variations
	Alternative sequence	131 – 196	66	Missing in isoform 2.		VSP_017690
Experimental info
	Sequence conflict	260	1	S → P in AAH06063. Ref.2
	Sequence conflict	281	1	R → Q in AAH06063. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 8, 2005. Version 1. Checksum: 679D548AC627696D	FASTA	295	32,739
	10 20 30 40 50 60 MEELEQDLLL QPWAWLQLAE NSLLAKVSIT KHGYALLISD LQQVWHEQVD TSVVSQRAKE 70 80 90 100 110 120 LNKRLTAPPA ALLCHLDEAL RPLFKDSAHP SKATFSCDRG EEGLILRVQS ELSGLPFSWH 130 140 150 160 170 180 FHCIPASSSL VSQHLIHPLM GVSLALQSHV RELAALLRMK DLEIQAYQES GAVLSRSRLK 190 200 210 220 230 240 TEPFEENSFL EQFMAEKLPE ACAVGDGKPF AMSLQSLYVA VTKQQIQARQ AHKDSGETQA 250 260 270 280 290 SSSTSPRGTD NQPEEPVSLS STLSEPEYEP VAASGPMHRA RLVKSKRKKP RGLFS
	Isoform 2 [UniParc]. Checksum: AE78F572827EBE7C	FASTA	229	25,233
	10 20 30 40 50 60 MEELEQDLLL QPWAWLQLAE NSLLAKVSIT KHGYALLISD LQQVWHEQVD TSVVSQRAKE 70 80 90 100 110 120 LNKRLTAPPA ALLCHLDEAL RPLFKDSAHP SKATFSCDRG EEGLILRVQS ELSGLPFSWH 130 140 150 160 170 180 FHCIPASSSL KLPEACAVGD GKPFAMSLQS LYVAVTKQQI QARQAHKDSG ETQASSSTSP 190 200 210 220 RGTDNQPEEP VSLSSTLSEP EYEPVAASGP MHRARLVKSK RKKPRGLFS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The transcriptional landscape of the mammalian genome." Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y. Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Strain: C57BL/6J. Tissue: Testis.
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Strain: Czech II. Tissue: Brain and Mammary tumor.
[3]	"Defective DNA repair and increased genomic instability in Cernunnos-XLF-deficient murine ES cells." Zha S., Alt F.W., Cheng H.-L., Brush J.W., Li G. Proc. Natl. Acad. Sci. U.S.A. 104:4518-4523(2007) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, DISRUPTION PHENOTYPE.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK006481 mRNA. Translation: BAB24611.1. Different initiation. BC006063 mRNA. Translation: AAH06063.1. BC107252 mRNA. Translation: AAI07253.1. BC107253 mRNA. Translation: AAI07254.1. BC132359 mRNA. Translation: AAI32360.1. BC132361 mRNA. Translation: AAI32362.1.
IPI	IPI00115363. IPI00742397.
RefSeq	NP_083618.3. NM_029342.4.
UniGene	Mm.442409.
3D structure databases
ProteinModelPortal	Q3KNJ2.
SMR	Q3KNJ2. Positions 1-227.
ModBase	Search...
PTM databases
PhosphoSite	Q3KNJ2.
Proteomic databases
PRIDE	Q3KNJ2.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
GeneID	75570.
KEGG	mmu:75570.
UCSC	uc007bnn.2. mouse.
Organism-specific databases
CTD	79840.
MGI	MGI:1922820. Nhej1.
Phylogenomic databases
eggNOG	NOG47408.
HOVERGEN	HBG080703.
KO	K10980.
Gene expression databases
ArrayExpress	Q3KNJ2.
Bgee	Q3KNJ2.
CleanEx	MM_NHEJ1.
Genevestigator	Q3KNJ2.
GermOnline	ENSMUSG00000026162. Mus musculus.
Family and domain databases
Gene3D	2.170.210.10. 1 hit.
InterPro	IPR015381. XLF/Cernunnos. IPR009089. XRCC4_N. [Graphical view]
Pfam	PF09302. XLF. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	343394.
SOURCE	Search...

Entry information

Entry name

NHEJ1_MOUSE

Accession

Primary (citable) accession number: Q3KNJ2
Secondary accession number(s): A2RT39, Q99JK0, Q9D9U0

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 21, 2006
Last sequence update:	November 8, 2005
Last modified:	April 3, 2013
This is version 66 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program