NHEJ1 - non-homologous end joining factor 1 Gene

Also Known as XLF

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79840

About NHEJ1

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:219,069,357-219,160,815 (from NCBI)

This gene has 16 transcripts (splice variants), 181 orthologues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 11.1), colon (RPKM 7.7) and 25 other tissues.

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]

NHEJ1 Products (3)

mRNA	Protein	Name
NM_001377498.1	NP_001364427.1	non-homologous end-joining factor 1 isoform 1
NM_001377499.1	NP_001364428.1	non-homologous end-joining factor 1 isoform 2
NM_024782.3	NP_079058.1	non-homologous end-joining factor 1 isoform 1

NHEJ1 Protein Structure

XLF

0
100
200
299 a.a.

Protein Preferred Names	Protein Names
non-homologous end-joining factor 1	XRCC4-like factor

NHEJ1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NHEJ1	Q9H9Q4	XRCC4	Homo sapiens	Q13426	GMS	31548606
Intra	NHEJ1	Q9H9Q4	XRCC4	Homo sapiens	Q13426	Anti Tag CoIP	18064046
Intra	NHEJ1	Q9H9Q4	XRCC4	Homo sapiens	Q13426	Y2H	16439205
Intra	NHEJ1	Q9H9Q4	XRCC4	Homo sapiens	Q13426	Anti Tag CoIP	21349273
Intra	NHEJ1	Q9H9Q4	LIG4	Homo sapiens	P49917	CoIP	16439205
Intra	NHEJ1	Q9H9Q4	LIG4	Homo sapiens	P49917	Anti Bait CoIP	16439205
Intra	NHEJ1	Q9H9Q4	LIG4	Homo sapiens	P49917	Pull Down	16439205
Intra	NHEJ1	Q9H9Q4	LIG4	Homo sapiens	P49917	Anti Tag CoIP	31548606

Cross: Cross-species interaction Intra: Intraspecies interaction

NHEJ1 Antibodies

Cat. No.	상품명	신청	Reactivity
HY-P82555	XLF Antibody (YA2300)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Severe Combined Immunodeficiency With Microcephaly, Growth Retardation, And Sensitivity To Ionizing Radiation	Cernunnos-Xlf Deficiency Nhej1 Syndrome Cernunnos Deficiency Scid, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, With Microcephaly, Growth Retardation, And Sensitivity To Ionizing Radiation Cernunnos Xlfd Combined Immunodeficiency-Microcephaly-Growth Retardation-Sensitivity To Ionizing Radiation Syndrome Nhej1 Deficiency Severe Combined Immunodeficiency Due To Nhej1 Deficiency NHEJ1-SCID Autosomal Recessive T-Cell-Negative, B Cell-Negative, Nk Cell-Positive, Severe Combined Immunodeficiency With Microcephaly, Growth Retardation And Sensitivity To Ionizing Radiation Immunodeficiency, Severe Combined, With Microcephaly, Growth Retardation, And Sensitivity To Ionizing Radiation
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1
Combined Immunodeficiency	Combined T Cell And B Cell Immunodeficiency Congenital Combined Immunodeficiency Syndrome With Combined Immunodeficiency Combined T And B Cell Immunodeficiency Combined Immunity Deficiency Combined Immunodeficiency Syndrome Combined T-Cell And B-Cell Immunodeficiency Lymphopenic Agammaglobulinaemia
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Severe Combined Immunodeficiency, Athabascan Type Severe Combined Immunodeficiency Due To Dclre1c Deficiency Rs-Scid Scid, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, With Sensitivity To Ionizing Radiation Scid Due To Artemis Deficiency Scid Due To Dclre1c Deficiency Scid, Athabascan Type Scid, Athabaskan Type Severe Combined Immunodeficiency Due To Artemis Deficiency Severe Combined Immunodeficiency, Athabaskan Type SCIDA Severe Combined Immunodeficiency, Athabascan-Type Artemis Deficiency Severe Combined Immunodeficiency Athabaskan Type Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/B-Cell-Negative/Nk-Cell-Positive With Sensitivity To Ionizing Radiation RSSCID Athabascan Scid Immunodeficiency, Severe Combined, Athabascan Type Severe Combined Immunodeficiency, Athabaskan-Type
Severe Combined Immunodeficiency	Scid Severe Combined Immunodeficiency Disease Combined T And B Cell Inborn Immunodeficiency Immunodeficiency, Severe Combined Scid - [Severe Combined Immunodeficiencies]
Lig4 Syndrome	Dna Ligase Iv Deficiency Ligase 4 Syndrome LIG4S
Nijmegen Breakage Syndrome	Berlin Breakage Syndrome NBS Microcephaly, Normal Intelligence And Immunodeficiency Ataxia-Telangiectasia Variant Ataxia-Telangiectasia Variant V1 Seemanova Syndrome Ii Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome Seemanova Syndrome Type 2 At-V1 Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence Immunodeficiency, Microcephaly, And Chromosomal Instability Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome Microcephaly Immunodeficiency Lymphoreticuloma Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence Seemanova Syndrome 2 Ataxia-Telangiectasia Variant 1 Seemanova Syndrome At V1 Ataxia-Telangiectasia, Variant 1 Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome V-At Ataxia Telangiectasia Variant V1
Polymicrogyria	Pmg
Reticular Dysgenesis	Severe Combined Immunodeficiency With Leukopenia De Vaal Disease Congenital Aleukia Aleukocytosis Hematopoietic Hypoplasia, Generalized Reticular Dysgenesia Devaal Disease Rd Ak2 Deficiency Congenital Aleukocytosis Generalized Hematopoietic Hypoplasia Scid With Leukopenia RDYS
Werner Syndrome	Werner'S Syndrome WRN Adult Progeria Ws Adult Premature Ageing Syndrome Adult Premature Aging Syndrome Werners Syndrome
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Dubowitz Syndrome	Dubowitz'S Syndrome Dwarfism-Eczema-Peculiar Facies Syndrome Intrauterine Growth Restriction, Short Stature, Microcephaly, Mild Intellectual Disability With Behavior Problems, Eczema, And Unusual And Distinctive Faci
Purine Nucleoside Phosphorylase Deficiency	Purine-Nucleoside Phosphorylase Deficiency Pnp Deficiency Nucleoside Phosphorylase Deficiency Immunodeficiency Due To Purine Nucleoside Phosphorylase Deficiency Deficiency Of Inosine Phosphorylase Pnpase Deficiency PNPD
Spinocerebellar Ataxia Type 1 With Axonal Neuropathy	Scan1 Spinocerebellar Ataxia With Axonal Neuropathy Type 1 Autosomal Recessive Spinocerebellar Ataxia With Axonal Neuropathy Scan1, Tdp1-Related Spinocerebellar Ataxia With Axonal Neuropathy Spinocerebellar Ataxia Autosomal Recessive With Axonal Neuropathy Spinocerebellar Ataxia With Axonal Neuropathy Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy Ataxia, Spinocerebellar, Autosomal Recessive With Axonal Neuropathy
Seckel Syndrome 1	SCKL1 Nanocephalic Dwarfism Microcephalic Primordial Dwarfism I Seckel-Type Dwarfism Bird-Headed Dwarfism Sckl Seckel Syndrome, Type 1 Seckel Syndrome
Ectodermal Dysplasia 14, Hair/Tooth Type With Or Without Hypohidrosis	ECTD14 Ectodermal Dysplasia 14 Ectn14
Omenn Syndrome	Histiocytic Medullary Reticulosis Severe Combined Immunodeficiency With Hypereosinophilia Combined Immunodeficiency With Hypereosinophilia Reticuloendotheliosis, Familial, With Eosinophilia Reticuloendotheliosis Familial With Eosinophilia Familial Reticuloendotheliosis Omenn'S Syndrome OS Malignant Histiocytosis
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Autosomal Recessive Cerebellar Ataxia	Arca
Bare Lymphocyte Syndrome, Type Ii	Mhc Class Ii Deficiency Bare Lymphocyte Syndrome Major Histocompatibility Complex Class Ii Deficiency Bare Lymphocyte Syndrome 2 Bare Lymphocyte Syndrome Type 2 Severe Combined Immunodeficiency, Hla Class Ii-Negative Bare Lymphocyte Syndrome, Type Ii, Complementation Group C Bare Lymphocyte Syndrome, Type Ii, Complementation Group D Bare Lymphocyte Syndrome Type Ii Scid, Hla Class Ii-Negative Bare Lymphocyte Syndrome, Type Ii, Complementation Group A Bare Lymphocyte Syndrome, Type Ii, Complementation Group B Scid Due To Absent Class Ii Hla Antigens Hla Class 1 Deficiency Scid, Hla Class 2-Negative Bls Type Ii Bare Lymphocyte Syndrome Type 2, Complementation Group A Bare Lymphocyte Syndrome Type 2, Complementation Group E Severe Combined Immunodeficiency Bls, Type Ii Bls Bare Lymphocyte Syndrome, Type Ii, Complementation Group E Blsii Bls Type 1 Bls 2 Scid Due To Absence Of Class Ii Hla Antigens Severe Combined Immunodeficiency Due To Absent Class Ii Human Leukocyte Antigens Immunodeficiency By Defective Expression Of Mhc Class Ii BLS2 Bare Lymphocyte Syndrome Type Ii Complementation Group A Bare Lymphocyte Syndrome Type Ii Complementation Group B Bare Lymphocyte Syndrome Type Ii Complementation Group C Bare Lymphocyte Syndrome Type Ii Complementation Group D Bare Lymphocyte Syndrome Type Ii Complementation Group E Bls Ii Hereditary Mhc Class Ii Deficiency Hla Class Ii Deficient Combined Immunodeficiency Mhc-Ii Deficiency Scid Hla Class Ii-Negative Severe Combined Immunodeficiency Hla Class Ii-Negative Bl-2 Immunodeficiency By Defective Expression Of Hla Class 2 Hla Class 2-Negative Severe Combined Immunodeficiency
Xeroderma Pigmentosum, Variant Type	Xeroderma Pigmentosum XPV Xeroderma Pigmentosum Variant Type Xeroderma Pigmentosum With Normal Dna Repair Rates Photosensitivity With Defective Dna Synthesis Xp De Sanctis-Cacchione Syndrome Desanctis-Cacchione Syndrome Xeroderma Pigmentosa Xerodermic Idiocy Xeroderma Pigmentosum Variant Xp - [Xeroderma Pigmentosum] Atrophoderma Pigmentosum
Trichothiodystrophy	Ttd Amish Brittle Hair Syndrome Bids Syndrome Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome Ibids Pibids Trichothiodystrophy Syndromes
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Aplastic Anemia	Aplastic Anemia, Susceptibility To Anemia Aplastic Idiopathic Aplastic Anemia Secondary Aplastic Anemia Idiopathic Bone Marrow Failure Aplastic Anemia Idiopathic AA Anemia, Aplastic Aplastic Anemia, Idiopathic Erythroid Aplasia Aa - [Aplastic Anaemia] Haematopoietic Aplasia Aleukia Haemorrhagica Anaemia Due To Decreased Red Cell Production Aplasia Bone Marrow Aplastic Bone Marrow Hypoplastic Anaemia Nos Myeloid Bone Marrow Aplasia Pancytopenia Panhaematopenia Hypoproliferative Anaemia Medullary Hypoplasia Red Blood Cells Hypoplastic Anaemia Panmyelophthisis Panhemocytopenia Refractive Hypoproliferative Anaemia Toxic Anaemia Toxic Aplastic Anaemia Aplastic Anaemia Due To Toxic Cause Idiopathic Aplastic Anaemia Nos
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-148078	PFM03	Inhibitor	99.86%	Unkown
HY-RS09281	NHEJ1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	NHEJ1	RGD	RGD:1359338
Bos taurus	NHEJ1	VGNC	VGNC:32064
Mus musculus	NHEJ1	MGD	MGI:1922820
Felis catus	NHEJ1	VGNC	VGNC:80293
Canis familiaris	NHEJ1	VGNC	VGNC:43797
Macaca mulatta	NHEJ1	VGNC	VGNC:75257
Others	NHEJ1	NCBI