Cell atlas - NHEJ1 - The Human Protein Atlas

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NHEJ1

TISSUE

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CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Nucleoli fibrillar center
	Nucleus

Human cell
	Nucleoli
	Nucleoplasm

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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
Summary	Mainly localized to the nucleus. In addition localized to the nucleoli (fibrillar center).
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Localized to the Nucleus (supported)
Additional location	In addition localized to the Nucleoli fibrillar center (supported)

DATA RELIABILITY
Reliability score	Supported based on 1 antibody. HPA043869
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Mainly localized to the nucleus. In addition localized to the nucleoli (fibrillar center).

Main location

Nucleus (supported)

Additional location

Nucleoli fibrillar center (supported)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA043869	CACO-2	Nucleus
	HPA043869	CACO-2	Nucleoli fibrillar center
	HPA043869	Hep G2	Nucleus
	HPA043869	Hep G2	Nucleoli fibrillar center
	HPA043869	U-2 OS	Nucleus

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 Show all	Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) 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] Show all	299 aa 33.3 kDa	No	0
NHEJ1-004 ENSP00000387290 ENST00000409720	Q9H9Q4 [Direct mapping] Non-homologous end-joining factor 1 Show all	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] Show all	316 aa 35.3 kDa	No	0
NHEJ1-008 ENSP00000407201 ENST00000457600	C9JWV4 [Direct mapping] Non-homologous end-joining factor 1 Show all	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	229 aa 25.9 kDa	No	0
NHEJ1-009 ENSP00000394896 ENST00000426304	H7C0G7 [Direct mapping] Non-homologous end-joining factor 1 Show all	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

contact@proteinatlas.org

The Project

The Human Protein Atlas

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