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Q3KNJ2

- NHEJ1_MOUSE

UniProt

Q3KNJ2 - NHEJ1_MOUSE

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Protein
Non-homologous end-joining factor 1
Gene
Nhej1, Xlf
Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at transcript leveli

Functioni

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.1 Publication

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW
Complete GO annotation...

GO - Biological processi

  1. B cell differentiation Source: UniProtKB
  2. DNA recombination Source: InterPro
  3. T cell differentiation Source: UniProtKB
  4. double-strand break repair via nonhomologous end joining Source: UniProtKB
  5. response to ionizing radiation Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

DNA damage, DNA repair

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Non-homologous end-joining factor 1
Alternative name(s):
Protein cernunnos
XRCC4-like factor
Gene namesi
Name:Nhej1
Synonyms:Xlf
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Unplaced

Organism-specific databases

MGIiMGI:1922820. Nhej1.

Subcellular locationi

Nucleus By similarity

GO - Cellular componenti

  1. nonhomologous end joining complex Source: UniProtKB
  2. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Disruption phenotypei

Embryonic stem cells are highly sensitive to ionizing radiation and have intrinsic DNA double-strand break repair defects.1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 295295Non-homologous end-joining factor 1
PRO_0000228655Add
BLAST

Proteomic databases

MaxQBiQ3KNJ2.
PRIDEiQ3KNJ2.

PTM databases

PhosphoSiteiQ3KNJ2.

Expressioni

Gene expression databases

BgeeiQ3KNJ2.
CleanExiMM_NHEJ1.
GenevestigatoriQ3KNJ2.

Interactioni

Subunit structurei

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

Structurei

3D structure databases

ProteinModelPortaliQ3KNJ2.
SMRiQ3KNJ2. Positions 1-227.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 135135Globular head By similarity
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili128 – 17043 By similarity
Add
BLAST

Domaini

The coiled-coil region mediates homodimerization By similarity.

Sequence similaritiesi

Belongs to the XLF family.

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG47408.
HOVERGENiHBG080703.
KOiK10980.
PhylomeDBiQ3KNJ2.

Family and domain databases

Gene3Di2.170.210.10. 1 hit.
InterProiIPR015381. XLF/Cernunnos.
IPR009089. XRCC4_N.
[Graphical view]
PfamiPF09302. XLF. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q3KNJ2-1) [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

MEELEQDLLL QPWAWLQLAE NSLLAKVSIT KHGYALLISD LQQVWHEQVD    50
TSVVSQRAKE LNKRLTAPPA ALLCHLDEAL RPLFKDSAHP SKATFSCDRG 100
EEGLILRVQS ELSGLPFSWH FHCIPASSSL VSQHLIHPLM GVSLALQSHV 150
RELAALLRMK DLEIQAYQES GAVLSRSRLK TEPFEENSFL EQFMAEKLPE 200
ACAVGDGKPF AMSLQSLYVA VTKQQIQARQ AHKDSGETQA SSSTSPRGTD 250
NQPEEPVSLS STLSEPEYEP VAASGPMHRA RLVKSKRKKP RGLFS 295
Length:295
Mass (Da):32,739
Last modified:November 8, 2005 - v1
Checksum:i679D548AC627696D
GO
Isoform 2 (identifier: Q3KNJ2-2) [UniParc]FASTAAdd to Basket

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

Note: No experimental confirmation available.

Show »
Length:229
Mass (Da):25,233
Checksum:iAE78F572827EBE7C
GO

Sequence cautioni

The sequence BAB24611.1 differs from that shown. Reason: Erroneous initiation.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei131 – 19666Missing in isoform 2.
VSP_017690Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti260 – 2601S → P in AAH06063. 1 Publication
Sequence conflicti281 – 2811R → Q in AAH06063. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
RefSeqiNP_083618.3. NM_029342.4. [Q3KNJ2-1]
UniGeneiMm.442409.

Genome annotation databases

GeneIDi75570.
KEGGimmu:75570.
UCSCiuc029qpd.1. mouse. [Q3KNJ2-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
RefSeqi NP_083618.3. NM_029342.4. [Q3KNJ2-1 ]
UniGenei Mm.442409.

3D structure databases

ProteinModelPortali Q3KNJ2.
SMRi Q3KNJ2. Positions 1-227.
ModBasei Search...

PTM databases

PhosphoSitei Q3KNJ2.

Proteomic databases

MaxQBi Q3KNJ2.
PRIDEi Q3KNJ2.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

GeneIDi 75570.
KEGGi mmu:75570.
UCSCi uc029qpd.1. mouse. [Q3KNJ2-1 ]

Organism-specific databases

CTDi 79840.
MGIi MGI:1922820. Nhej1.

Phylogenomic databases

eggNOGi NOG47408.
HOVERGENi HBG080703.
KOi K10980.
PhylomeDBi Q3KNJ2.

Miscellaneous databases

NextBioi 343394.
PROi Q3KNJ2.
SOURCEi Search...

Gene expression databases

Bgeei Q3KNJ2.
CleanExi MM_NHEJ1.
Genevestigatori Q3KNJ2.

Family and domain databases

Gene3Di 2.170.210.10. 1 hit.
InterProi IPR015381. XLF/Cernunnos.
IPR009089. XRCC4_N.
[Graphical view ]
Pfami PF09302. XLF. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.

Entry informationi

Entry nameiNHEJ1_MOUSE
AccessioniPrimary (citable) accession number: Q3KNJ2
Secondary accession number(s): A2RT39, Q99JK0, Q9D9U0
Entry historyi
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 statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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