ImmunoDeficiency Resource (IDR)

Names

HUGO name: NHEJ1

Alias(es):

Localization

Reference sequences

Chromosomal location

Maps

Variations / Mutations

• NHEJ1base; Mutation registry for Combined immunodeficiency (CID) associated with microcephaly and increased cellular sensitivity to IR

Other gene-based resources

Description

Protein function:

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.

Subunit:

Interacts with XRCC4.

Subcellular location:

Nucleus

Alternative products:

Event=alternative splicing; named isoforms=2; name=1; isoid=q9h9q4-1; sequence=displayed; name=2; isoid=q9h9q4-2; sequence=vsp_017689; note=no experimental confirmation available.

Miscellaneous:

Was named 'cernunnos' after the enigmatic celtic god of hunt, underworld and fertility.

Tissue specificity:

Ubiquitously expressed.

Other features

Non-homologous end-joining factor 1: 1-299

Other related resourses:

Expression pattern for human

Tissue	Expression (%)	Clones
thyroid	21.15	3:10201
rectum	12.49	1:5759
bladder	5.79	2:24839
colon	4.99	7:100892
embryonic_tissue	4.73	3:45612
cervix	3.63	2:39652
bone_marrow	3.48	2:41353
small_intestine	3.36	2:42840
spleen	3.04	2:47318
connective_tissue	2.99	4:96057

Animal models

Mouse