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Q3KNJ2 (NHEJ1_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified May 14, 2014. Version 74. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Non-homologous end-joining factor 1
Alternative name(s):
Protein cernunnos
XRCC4-like factor
Gene names
Name:Nhej1
Synonyms:Xlf
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length295 AA.
Sequence statusComplete.
Protein existenceEvidence 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

Exists mainly as a homodimer. Interacts with XRCC4 and the XRCC4-LIG4 complex. Binds DNA in a length-dependent manner By similarity.

Subcellular location

Nucleus By similarity.

Domain

The coiled-coil region mediates homodimerization 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 295295Non-homologous end-joining factor 1
PRO_0000228655

Regions

Region1 – 135135Globular head By similarity
Coiled coil128 – 17043 By similarity

Natural variations

Alternative sequence131 – 19666Missing in isoform 2.
VSP_017690

Experimental info

Sequence conflict2601S → P in AAH06063. Ref.2
Sequence conflict2811R → Q in AAH06063. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 8, 2005. Version 1.
Checksum: 679D548AC627696D

FASTA29532,739
        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 

« Hide

Isoform 2 [UniParc].

Checksum: AE78F572827EBE7C
Show »

FASTA22925,233

References

« Hide '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. expand/collapse author list , 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.
RefSeqNP_083618.3. NM_029342.4. [Q3KNJ2-1]
UniGeneMm.442409.

3D structure databases

ProteinModelPortalQ3KNJ2.
SMRQ3KNJ2. Positions 1-227.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ3KNJ2.

Proteomic databases

MaxQBQ3KNJ2.
PRIDEQ3KNJ2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

GeneID75570.
KEGGmmu:75570.
UCSCuc029qpd.1. mouse. [Q3KNJ2-1]

Organism-specific databases

CTD79840.
MGIMGI:1922820. Nhej1.

Phylogenomic databases

eggNOGNOG47408.
HOVERGENHBG080703.
KOK10980.
PhylomeDBQ3KNJ2.

Gene expression databases

BgeeQ3KNJ2.
CleanExMM_NHEJ1.
GenevestigatorQ3KNJ2.

Family and domain databases

Gene3D2.170.210.10. 1 hit.
InterProIPR015381. XLF/Cernunnos.
IPR009089. XRCC4_N.
[Graphical view]
PfamPF09302. XLF. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio343394.
PROQ3KNJ2.
SOURCESearch...

Entry information

Entry nameNHEJ1_MOUSE
AccessionPrimary (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: May 14, 2014
This is version 74 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot