Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q9H9Q4

- NHEJ1_HUMAN

UniProt

Q9H9Q4 - NHEJ1_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Non-homologous end-joining factor 1

Gene

NHEJ1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein 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.3 Publications

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW

GO - Biological processi

  1. B cell differentiation Source: UniProtKB
  2. central nervous system development Source: UniProtKB
  3. DNA recombination Source: InterPro
  4. double-strand break repair via nonhomologous end joining Source: UniProtKB
  5. positive regulation of ligase activity Source: UniProtKB
  6. response to ionizing radiation Source: UniProtKB
  7. T cell differentiation 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:25737. NHEJ1.

Subcellular locationi

Nucleus 2 Publications

GO - Cellular componenti

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

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID) [MIM:611291]: SCID refers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. NHEJ1-SCID is characterized by a profound T- and B-lymphocytopenia associated with increased cellular sensitivity to ionizing radiation, microcephaly and growth retardation. Some patients may manifest SCID with sensitivity to ionizing radiation without microcephaly and mild growth retardation, probably due to hypomorphic NHEJ1 mutations.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti57 – 571R → G in NHEJ1-SCID; fails to translocate to the nucleus. 1 Publication
VAR_025704
Natural varianti123 – 1231C → R in NHEJ1-SCID. 1 Publication
VAR_025705
A chromosomal aberration involving NHEJ1 is found in a patient with polymicrogyria. Translocation t(2;7)(q35;p22).1 Publication

Keywords - Diseasei

Disease mutation, SCID

Organism-specific databases

MIMi611291. phenotype.
Orphaneti208447. Bilateral generalized polymicrogyria.
169079. Cernunnos-XLF deficiency.
PharmGKBiPA144596401.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 299299Non-homologous end-joining factor 1PRO_0000228654Add
BLAST

Proteomic databases

MaxQBiQ9H9Q4.
PaxDbiQ9H9Q4.
PRIDEiQ9H9Q4.

PTM databases

PhosphoSiteiQ9H9Q4.

Expressioni

Tissue specificityi

Ubiquitously expressed.1 Publication

Gene expression databases

BgeeiQ9H9Q4.
CleanExiHS_NHEJ1.
ExpressionAtlasiQ9H9Q4. baseline.
GenevestigatoriQ9H9Q4.

Organism-specific databases

HPAiCAB012334.

Interactioni

Subunit structurei

Exists mainly as a homodimer. Interacts with XRCC4 and the XRCC4-LIG4 complex. Binds DNA in a length-dependent manner.4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
LIG4P499174EBI-847807,EBI-847896
XRCC4Q134268EBI-847807,EBI-717592

Protein-protein interaction databases

BioGridi122931. 4 interactions.
DIPiDIP-37959N.
IntActiQ9H9Q4. 4 interactions.
MINTiMINT-5003574.
STRINGi9606.ENSP00000349313.

Structurei

Secondary structure

299
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi1 – 99Combined sources
Beta strandi14 – 174Combined sources
Beta strandi19 – 3012Combined sources
Beta strandi33 – 397Combined sources
Beta strandi44 – 496Combined sources
Helixi51 – 6111Combined sources
Helixi69 – 8517Combined sources
Beta strandi94 – 1007Combined sources
Beta strandi103 – 11210Combined sources
Beta strandi115 – 12511Combined sources
Helixi128 – 1347Combined sources
Helixi136 – 16934Combined sources
Helixi186 – 19611Combined sources
Helixi198 – 2014Combined sources
Helixi208 – 2136Combined sources
Helixi215 – 22814Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2QM4X-ray2.30A/B/C/D1-233[»]
2R9AX-ray2.50A/B1-224[»]
3Q4FX-ray5.50A/B/E/F1-224[»]
3RWRX-ray3.94D/E/H/I/L/M/O/Q/S/T/W/X1-224[»]
3SR2X-ray3.97C/D/G/H1-224[»]
3W03X-ray8.49A/B1-233[»]
ProteinModelPortaliQ9H9Q4.
SMRiQ9H9Q4. Positions 1-230.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9H9Q4.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 135135Globular headAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili128 – 170431 PublicationAdd
BLAST

Domaini

The coiled-coil region mediates homodimerization.

Sequence similaritiesi

Belongs to the XLF family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG47408.
GeneTreeiENSGT00390000009940.
HOGENOMiHOG000089974.
HOVERGENiHBG080703.
InParanoidiQ9H9Q4.
KOiK10980.
OMAiYWNFHCI.
OrthoDBiEOG7Z0JXT.
PhylomeDBiQ9H9Q4.
TreeFamiTF328567.

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: Q9H9Q4-1) [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

        10         20         30         40         50
MEELEQGLLM QPWAWLQLAE NSLLAKVFIT KQGYALLVSD LQQVWHEQVD
60 70 80 90 100
TSVVSQRAKE LNKRLTAPPA AFLCHLDNLL RPLLKDAAHP SEATFSCDCV
110 120 130 140 150
ADALILRVRS ELSGLPFYWN FHCMLASPSL VSQHLIRPLM GMSLALQCQV
160 170 180 190 200
RELATLLHMK DLEIQDYQES GATLIRDRLK TEPFEENSFL EQFMIEKLPE
210 220 230 240 250
ACSIGDGKPF VMNLQDLYMA VTTQEVQVGQ KHQGAGDPHT SNSASLQGID
260 270 280 290
SQCVNQPEQL VSSAPTLSAP EKESTGTSGP LQRPQLSKVK RKKPRGLFS
Length:299
Mass (Da):33,337
Last modified:March 1, 2001 - v1
Checksum:iBC5C68076A5E7A96
GO
Isoform 2 (identifier: Q9H9Q4-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     276-299: GTSGPLQRPQLSKVKRKKPRGLFS → ALCRDLSCQRSRGRSQGVSSVNLLWPQLLRMDLENSFQASP

Note: No experimental confirmation available.

Show »
Length:316
Mass (Da):35,291
Checksum:i11CAF1C6543580CE
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti256 – 2561Q → R in CAG33572. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti14 – 141A → T.
Corresponds to variant rs34689457 [ dbSNP | Ensembl ].
VAR_038790
Natural varianti57 – 571R → G in NHEJ1-SCID; fails to translocate to the nucleus. 1 Publication
VAR_025704
Natural varianti89 – 891H → R.
Corresponds to variant rs1056296 [ dbSNP | Ensembl ].
VAR_038791
Natural varianti123 – 1231C → R in NHEJ1-SCID. 1 Publication
VAR_025705
Natural varianti256 – 2561Q → L.
Corresponds to variant rs35270667 [ dbSNP | Ensembl ].
VAR_038792

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei276 – 29924GTSGP…RGLFS → ALCRDLSCQRSRGRSQGVSS VNLLWPQLLRMDLENSFQAS P in isoform 2. 1 PublicationVSP_017689Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ972687 mRNA. Translation: CAI99410.1.
AK022672 mRNA. Translation: BAB14168.1.
CR457291 mRNA. Translation: CAG33572.1.
AC020575 Genomic DNA. No translation available.
AC068946 Genomic DNA. No translation available.
AC097468 Genomic DNA. Translation: AAX88921.1.
BC008210 mRNA. Translation: AAH08210.2.
BC012732 mRNA. Translation: AAH12732.1.
BC030986 mRNA. Translation: AAH30986.1.
CCDSiCCDS2432.1. [Q9H9Q4-1]
RefSeqiNP_079058.1. NM_024782.2. [Q9H9Q4-1]
UniGeneiHs.225988.

Genome annotation databases

EnsembliENST00000356853; ENSP00000349313; ENSG00000187736. [Q9H9Q4-1]
ENST00000409720; ENSP00000387290; ENSG00000187736. [Q9H9Q4-2]
GeneIDi79840.
KEGGihsa:79840.
UCSCiuc002vjp.4. human. [Q9H9Q4-1]

Polymorphism databases

DMDMi74734059.

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Web resourcesi

NHEJ1base

NHEJ1 mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ972687 mRNA. Translation: CAI99410.1 .
AK022672 mRNA. Translation: BAB14168.1 .
CR457291 mRNA. Translation: CAG33572.1 .
AC020575 Genomic DNA. No translation available.
AC068946 Genomic DNA. No translation available.
AC097468 Genomic DNA. Translation: AAX88921.1 .
BC008210 mRNA. Translation: AAH08210.2 .
BC012732 mRNA. Translation: AAH12732.1 .
BC030986 mRNA. Translation: AAH30986.1 .
CCDSi CCDS2432.1. [Q9H9Q4-1 ]
RefSeqi NP_079058.1. NM_024782.2. [Q9H9Q4-1 ]
UniGenei Hs.225988.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2QM4 X-ray 2.30 A/B/C/D 1-233 [» ]
2R9A X-ray 2.50 A/B 1-224 [» ]
3Q4F X-ray 5.50 A/B/E/F 1-224 [» ]
3RWR X-ray 3.94 D/E/H/I/L/M/O/Q/S/T/W/X 1-224 [» ]
3SR2 X-ray 3.97 C/D/G/H 1-224 [» ]
3W03 X-ray 8.49 A/B 1-233 [» ]
ProteinModelPortali Q9H9Q4.
SMRi Q9H9Q4. Positions 1-230.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122931. 4 interactions.
DIPi DIP-37959N.
IntActi Q9H9Q4. 4 interactions.
MINTi MINT-5003574.
STRINGi 9606.ENSP00000349313.

PTM databases

PhosphoSitei Q9H9Q4.

Polymorphism databases

DMDMi 74734059.

Proteomic databases

MaxQBi Q9H9Q4.
PaxDbi Q9H9Q4.
PRIDEi Q9H9Q4.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000356853 ; ENSP00000349313 ; ENSG00000187736 . [Q9H9Q4-1 ]
ENST00000409720 ; ENSP00000387290 ; ENSG00000187736 . [Q9H9Q4-2 ]
GeneIDi 79840.
KEGGi hsa:79840.
UCSCi uc002vjp.4. human. [Q9H9Q4-1 ]

Organism-specific databases

CTDi 79840.
GeneCardsi GC02M219941.
HGNCi HGNC:25737. NHEJ1.
HPAi CAB012334.
MIMi 611290. gene.
611291. phenotype.
neXtProti NX_Q9H9Q4.
Orphaneti 208447. Bilateral generalized polymicrogyria.
169079. Cernunnos-XLF deficiency.
PharmGKBi PA144596401.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG47408.
GeneTreei ENSGT00390000009940.
HOGENOMi HOG000089974.
HOVERGENi HBG080703.
InParanoidi Q9H9Q4.
KOi K10980.
OMAi YWNFHCI.
OrthoDBi EOG7Z0JXT.
PhylomeDBi Q9H9Q4.
TreeFami TF328567.

Miscellaneous databases

ChiTaRSi NHEJ1. human.
EvolutionaryTracei Q9H9Q4.
GeneWikii XLF_(protein).
GenomeRNAii 79840.
NextBioi 69516.
PROi Q9H9Q4.
SOURCEi Search...

Gene expression databases

Bgeei Q9H9Q4.
CleanExi HS_NHEJ1.
ExpressionAtlasi Q9H9Q4. baseline.
Genevestigatori Q9H9Q4.

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. "Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly."
    Buck D., Malivert L., de Chasseval R., Barraud A., Fondaneche M.-C., Sanal O., Plebani A., Stephan J.-L., Hufnagel M., le Deist F., Fischer A., Durandy A., de Villartay J.-P., Revy P.
    Cell 124:287-299(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANTS NHEJ1-SCID GLY-57 AND ARG-123.
    Tissue: Thymus.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  3. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 177-299 (ISOFORM 2).
    Tissue: Bone marrow and Skin.
  6. Cited for: DISEASE.
  7. "XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining."
    Ahnesorg P., Smith P., Jackson S.P.
    Cell 124:301-313(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH XRCC4, INVOLVEMENT IN NHEJ1-SCID.
  8. "Cernunnos interacts with the XRCC4 x DNA-ligase IV complex and is homologous to the yeast nonhomologous end-joining factor Nej1."
    Callebaut I., Malivert L., Fischer A., Mornon J.P., Revy P., de Villartay J.P.
    J. Biol. Chem. 281:13857-13860(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH XRCC4-LIG4 COMPLEX.
  9. Cited for: CHROMOSOMAL TRANSLOCATION.
  10. "Length-dependent binding of human XLF to DNA and stimulation of XRCC4.DNA ligase IV activity."
    Lu H., Pannicke U., Schwarz K., Lieber M.R.
    J. Biol. Chem. 282:11155-11162(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH XRCC4-LIG4 COMPLEX, DNA-BINDING, CHARACTERIZATION OF VARIANT NHEJ1-SCID GLY-57.
  11. "Cernunnos/XLF promotes the ligation of mismatched and noncohesive DNA ends."
    Tsai C.J., Kim S.A., Chu G.
    Proc. Natl. Acad. Sci. U.S.A. 104:7851-7856(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  12. "Crystal structure of human XLF/Cernunnos reveals unexpected differences from XRCC4 with implications for NHEJ."
    Li Y., Chirgadze D.Y., Bolanos-Garcia V.M., Sibanda B.L., Davies O.R., Ahnesorg P., Jackson S.P., Blundell T.L.
    EMBO J. 27:290-300(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 1-233, COILED-COIL REGION, SUBUNIT.

Entry informationi

Entry nameiNHEJ1_HUMAN
AccessioniPrimary (citable) accession number: Q9H9Q4
Secondary accession number(s): B8ZZA4
, Q4ZFW7, Q6IA64, Q96JS9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: March 1, 2001
Last modified: November 26, 2014
This is version 108 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

Was named 'Cernunnos' after the enigmatic Celtic god of hunting, the underworld and fertility.

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3