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NHEJ1

GENERAL INFORMATION

Gene name

 NHEJ1

Gene description

 Nonhomologous end-joining factor 1

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Mixed
HPA (cell line):Expressed in all
HPA (normal tissue):Expressed in all

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 General nuclear expression.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
CAB012334
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PROGNOSTIC SUMMARY
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Mixed

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
CAB012334

GENE INFORMATION

Gene name

 NHEJ1 (HGNC Symbol)

Synonyms

 Cernunnos, FLJ12610, XLF

Description

 Nonhomologous end-joining factor 1 (HGNC Symbol)

Entrez gene summary

 Double-strand breaks in DNA result from genotoxic stresses and are among the most damaging of DNA lesions. This gene encodes a DNA repair factor essential for the nonhomologous end-joining pathway, which preferentially mediates repair of double-stranded breaks. Mutations in this gene cause different kinds of severe combined immunodeficiency disorders. [provided by RefSeq, Jul 2008]

Chromosome

 2

Cytoband

 q35

Chromosome location (bp)

 219075317 - 219160865

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000187736 (version 83.38)

Entrez gene

 79840

UniProt

 Q9H9Q4 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9H9Q4

Antibodypedia

 NHEJ1 antibodies

PROTEIN BROWSER
NHEJ1-001
NHEJ1-004
NHEJ1-008
NHEJ1-009

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
NHEJ1-001
ENSP00000349313
ENST00000356853
Q9H9Q4 [Direct mapping]
Non-homologous end-joining factor 1
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Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0006310 [DNA recombination]
GO:0007417 [central nervous system development]
GO:0010212 [response to ionizing radiation]
GO:0030183 [B cell differentiation]
GO:0030217 [T cell differentiation]
GO:0051351 [positive regulation of ligase activity]
GO:0070419 [nonhomologous end joining complex]
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 299 aa
33.3 kDa 		No 0
NHEJ1-004
ENSP00000387290
ENST00000409720
Q9H9Q4 [Direct mapping]
Non-homologous end-joining factor 1
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Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0006310 [DNA recombination]
GO:0007417 [central nervous system development]
GO:0010212 [response to ionizing radiation]
GO:0030183 [B cell differentiation]
GO:0030217 [T cell differentiation]
GO:0051351 [positive regulation of ligase activity]
GO:0070419 [nonhomologous end joining complex]
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 316 aa
35.3 kDa 		No 0
NHEJ1-008
ENSP00000407201
ENST00000457600
C9JWV4 [Direct mapping]
Non-homologous end-joining factor 1
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0003677 [DNA binding]
GO:0005634 [nucleus]
GO:0006302 [double-strand break repair]
GO:0006310 [DNA recombination]
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 229 aa
25.9 kDa 		No 0
NHEJ1-009
ENSP00000394896
ENST00000426304
H7C0G7 [Direct mapping]
Non-homologous end-joining factor 1
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0005634 [nucleus]
GO:0006302 [double-strand break repair]
GO:0006310 [DNA recombination]
Show all
 224 aa
24.8 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.