NEIL1 - nei like DNA glycosylase 1 Gene

Also Known as FPG1; NEI1; hFPG1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79661

About NEIL1

Cytogenetic location: 15q24.2 Genomic coordinates (GRCh38): 15:75,347,039-75,357,115 (from NCBI)

This gene has 24 transcripts (splice variants), 186 orthologues and 2 paralogues. Ubiquitous expression in lymph node (RPKM 8.2), bone marrow (RPKM 5.5) and 25 other tissues.

Summary

This gene is a member of the Nei Endonuclease VIII-like gene family which encodes DNA glycosylases. The encoded enzyme participates in the DNA repair pathway by initiating base excision repair by removing damaged Bases, primarily oxidized pyrimidines. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

NEIL1 Products (4)

mRNA Protein Name
NM_001256552.1 NP_001243481.1 endonuclease 8-like 1 isoform 1
NM_001352519.2 NP_001339448.1 endonuclease 8-like 1 isoform 4
NM_001352520.2 NP_001339449.1 endonuclease 8-like 1 isoform 5
NM_024608.4 NP_078884.2 endonuclease 8-like 1 isoform 2
Molecular Function GO Annotation Evidence References Source
enables hydrolase activity, acting on glycosyl bonds IDA
IDA: Inferred from direct assay
17611195 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
17611195 GOA
Biological Process GO Annotation Evidence References Source
involved in base-excision repair IDA
IDA: Inferred from direct assay
17611195 GOA
involved in negative regulation of nuclease activity IDA
IDA: Inferred from direct assay
17611195 GOA
involved in response to oxidative stress IDA
IDA: Inferred from direct assay
17611195 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
17611195 GOA
located in nucleus IDA
IDA: Inferred from direct assay
17611195 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NEIL1 Protein Structure

Fapy_DNA_glyco

Fapy_DNA_glyco: Formamidopyrimidine-DNA glycosylase N-terminal domain (2 - 123)

H2TH

H2TH: Formamidopyrimidine-DNA glycosylase H2TH domain (149 - 199)

Neil1-DNA_bind

Neil1-DNA_bind: Endonuclease VIII-like 1, DNA bind (252 - 290)

  • 0
  • 100
  • 200
  • 300
  • 390 a.a.
Protein Preferred Names Protein Names

endonuclease 8-like 1

  • DNA endonuclease eight-like glycosylase 1

Recombinant NEIL1 Proteins

Cat. No. Product Name Accession Purity
HY-P74734 NEIL1 Protein, Human (His) Q96FI4 (M1-S390) ≥ 80%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Congenital Disorder Of Deglycosylation 2
  • CDDG2

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

Immunodeficiency With Hyper-Igm, Type 5
  • HIGM5

  • Hyper-Igm Syndrome 5

  • Immunodeficiency With Hyper Igm Type 5

  • Hyper-Igm Syndrome Type 5

  • Hyper-Igm Syndrome Due To Ung Deficiency

  • Hyper-Igm Syndrome Due To Uracil N-Glycosylase

  • Immunodeficiency With Hyper Igm, Type 5

  • Hyper Igm Syndrome 5

  • Immunodeficiency With Hyper-Igm 5

  • Hyper-Igm Immunodeficiency Type 5

  • Immunodeficiency, With Hyper Igm, Type 5

  • Hyper-Igm Immunodeficiency Syndrome, Type 5

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

Cockayne Syndrome B
  • Cockayne Syndrome Type 2

  • Cockayne Syndrome, Type B

  • Cockayne Syndrome Type Ii

  • CSB

  • Cockayne Syndrome 2

  • Cockayne Syndrome Type B

  • Ckn2

  • Cockayne Syndrome, Type Ii

Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
  • Aoa1

  • Ataxia-Telangiectasia-Like Disorder

  • EAOH

  • Eoca-Ha

  • Ataxia With Oculomotor Apraxia Type 1

  • Ataxia-Oculomotor Apraxia 1

  • Ataxia-Oculomotor Apraxia Syndrome

  • AOA

  • Ataxia-Telangiectasia-Like Syndrome

  • Ataxia-Oculomotor Apraxia Type 1

  • Ataxia With Oculomotor Apraxia

  • Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia

  • Early-Onset Ataxia With Oculomotor Apraxia And Hypoalbuminemia

  • Early-Onset Cerebellar Ataxia With Hypoalbuminemia

  • Adult Onset Ataxia With Oculomotor Apraxia

  • Early-Onset Ataxia With Ocular Motor Apraxia And Hypoalbuminemia

  • Scan2

  • Scar1

  • Spinocerebellar Ataxia With Axonal Neuropathy Type 2

  • Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1

  • Atld

  • Ataxia Early-Onset With Oculomotor Apraxia And Hypoalbuminemia

  • Cerebellar Ataxia Early-Onset With Hypoalbuminemia

  • Ataxia-Oculomotor Apraxia

  • Spinocerebellar Ataxia, Autosomal Recessive 1

Uv-Sensitive Syndrome
  • Uvss

  • Uv Sensitive Syndrome

  • Ultraviolet Sensitive Syndrome

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

Orthologs Information

Species Symbol Source ID
Macaca mulatta NEIL1 VGNC VGNC:75208
Felis catus NEIL1 VGNC VGNC:63767
Rattus norvegicus NEIL1 RGD RGD:1306077
Canis familiaris NEIL1 VGNC VGNC:43726
Mus musculus NEIL1 MGD MGI:1920024
Bos taurus NEIL1 VGNC VGNC:31988
Others NEIL1 NCBI