NHEJ1

Protein identityUniProt · HPA

UniProt accession

Q9H9Q4

Gene

NHEJ1

Ensembl

ENSG00000187736

Chromosome

2

Canonical length

299 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nucleoli fibrillar center

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

299 residues, UniProt reviewed canonical sequence.

>Q9H9Q4|NHEJ1
     1  MEELEQGLLM QPWAWLQLAE NSLLAKVFIT KQGYALLVSD LQQVWHEQVD TSVVSQRAKE
    61  LNKRLTAPPA AFLCHLDNLL RPLLKDAAHP SEATFSCDCV ADALILRVRS ELSGLPFYWN
   121  FHCMLASPSL VSQHLIRPLM GMSLALQCQV RELATLLHMK DLEIQDYQES GATLIRDRLK
   181  TEPFEENSFL EQFMIEKLPE ACSIGDGKPF VMNLQDLYMA VTTQEVQVGQ KHQGAGDPHT
   241  SNSASLQGID SQCVNQPEQL VSSAPTLSAP EKESTGTSGP LQRPQLSKVK RKKPRGLFS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NHEJ1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.43

Highest tissue expression

11 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NHEJ1.

Disease | AllUniProt

Conditions NHEJ1 is implicated in, by any mechanism.

• Immunodeficiency 124, severe combined (IMD124) MIM:611291
• Microphthalmia/coloboma 13 (MCOPCB13) MIM:620968

Disease | GeneticClinVar

39 pathogenic / likely-pathogenic of 277 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Cernunnos-XLF deficiency
• Severe combined immunodeficiency disease
• Syndactyly type 1
• Isolated anophthalmia-microphthalmia syndrome
• Microphthalmia/coloboma 13

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.74

gnomAD pLI

0

gnomAD missense Z

0.01

DepMap mean gene effect

-0.1

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• B cell differentiation
• central nervous system development
• double-strand break repair via nonhomologous end joining
• immunoglobulin V(D)J recombination
• positive regulation of ligase activity
• response to ionizing radiation
• T cell differentiation
• telomere maintenance

Molecular functions

• DNA binding
• DNA end binding
• DNA polymerase binding

Cellular components

• DNA ligase IV complex
• DNA-dependent protein kinase-DNA ligase 4 complex
• fibrillar center
• nonhomologous end joining complex
• nucleoplasm
• nucleus
• site of double-strand break

Protein domainsUniProt · Pfam · InterPro

• XRCC4-like, N-terminal domain superfamily
• XLF-like, N-terminal
• Non-homologous end-joining factor
• XLF-like, coiled-coil region
• XLF N-terminal domain
• XLF protein coiled-coil region

KeywordsUniProt

• Chromosomal rearrangement
• Chromosome
• Coiled coil
• DNA damage
• DNA repair
• DNA-binding
• Nucleus
• Phosphoprotein
• SCID

InteractionsUniProt · HPA

Protein binding partners of NHEJ1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• POLL
• XRCC4
• XRCC5