1. Gene
  2. NTHL1 - nth like DNA glycosylase 1 Gene

NTHL1 - nth like DNA glycosylase 1 Gene

Homo sapiens

Also known as FAP3; NTH1; OCTS3; hNTH1

Gene ID: 4913 | Gene type: protein coding

About NTHL1

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:2,039,820-2,047,834 (from NCBI)

This gene has 13 transcripts (splice variants), 199 orthologues, 1 paralogue and is associated with 40 phenotypes. Ubiquitous expression in spleen (RPKM 7.3), ovary (RPKM 6.4) and 25 other tissues.

Summary

The protein encoded by this gene is a DNA N-glycosylase of the endonuclease III family. Like a similar protein in E. coli, the encoded protein has DNA glycosylase activity on DNA substrates containing oxidized pyrimidine residues and has apurinic/apyrimidinic lyase activity. [provided by RefSeq, Oct 2008]

NTHL1 Products(3)

mRNA Protein Name
NM_001318193.2 NP_001305122.2 endonuclease III-like protein 1 isoform 2
NM_001318194.2 NP_001305123.1 endonuclease III-like protein 1 isoform 3
NM_002528.7 NP_002519.2 endonuclease III-like protein 1 isoform 1

NTHL1 Protein Structure

HhH-GPD

HhH-GPD: HhH-GPD superfamily base excision DNA repair protein (135 - 271)

HHH

HHH: Helix-hairpin-helix motif (199 - 223)

  • 0
  • 100
  • 200
  • 312 a.a.
Protein Preferred Names Protein Names

endonuclease III-like protein 1

DNA glycoslyase/AP lyase

Related Diseases

Diseases Alias
Familial Adenomatous Polyposis 3

FAP3

Nthl1-Related Attenuated Familial Adenomatous Polyposis

Nthl1-Related Afap

Nthl1-Related Attenuated Fap

Bap1 Tumor Predisposition Syndrome

Bap1-Related Tumor Predisposition Syndrome

Common Syndrome

Bap1 Cancer Syndrome

Bap1-Tpds

Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms

Tumor Predisposition Syndrome

Tumor Susceptibility Linked To Germline Bap1 Mutations

Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms

Tumor Predisposition

Inherited Cancer-Predisposing Syndrome

Hereditary Cancer-Predisposing Syndrome

Familial Adenomatous Polyposis 2

Mutyh-Related Attenuated Familial Adenomatous Polyposis

FAP2

Colorectal Adenomatous Polyposis, Autosomal Recessive

Adenomas, Multiple Colorectal

Mutyh-Associated Polyposis

Mutyh-Related Attenuated Familial Polyposis Coli

Mutyh-Related Attenuated Fap

Adenomas, Multiple Colorectal, Autosomal Recessive

Mutyh-Related Afap

Adenomas Multiple Colorectal Autosomal Recessive

Colorectal Adenomatous Polyposis Autosomal Recessive

Adenomatous Polyposis, Familial, Type 2

Hereditary Mixed Polyposis Syndrome

Hmps

Familial Adenomatous Polyposis

Adenomatous Polyposis Coli

Fap

Familial Polyposis Coli

Familial Multiple Polyposis Syndrome

Adenomatous Polyposis Of The Colon

Familial Intestinal Polyposis

Fpc

Familial Adenomatous Polyposis Of The Colon

Familial Multiple Polyposis

Familial Polyposis Of The Colon

Hereditary Polyposis Coli

Polyposis, Adenomatous Intestinal

Adenomatous Familial Polyposis

Adenomatous Familial Polyposis Syndrome

Myh-Associated Polyposis

Colorectal Adenomatous Polyposis

Adenomatous Polyposis, Familial

Mutyh-Associate Polyposis

Breast Lipoma

Lipoma Of Breast

Juvenile Polyposis Syndrome

JPS

Juvenile Intestinal Polyposis

Jip

Pji

Juvenile Gastrointestinal Polyposis

Juvenile Polyposis

Polyposis, Juvenile Intestinal

Polyposis, Familial, Of Entire Gastrointestinal Tract

Polyposis Familial Of Entire Gastrointestinal Tract

Polyposis Juvenile Intestinal

Polyposis Syndrome, Juvenile

Parkinson Disease 2, Autosomal Recessive Juvenile

Young-Onset Parkinson Disease

PARK2

Pdj

Autosomal Recessive Juvenile Parkinson Disease 2

Epdf

Parkinson Disease, Juvenile, Type 2

Parkinson'S Disease 2

Autosomal Recessive Juvenile Parkinson Disease

Early-Onset Parkinson Disease

Parkinson Disease 2

Parkinson Disease, Juvenile, Autosomal Recessive

Parkinsonism, Early-Onset, With Diurnal Fluctuation

Autosomal Recessive Juvenile Parkinson'S Disease 2

Jp

Juvenile Parkinsonism

Parkinson Disease Autosomal Recessive, Early Onset

Parkinsonism, Early Onset, With Diurnal Fluctuation

Yopd

Autosomal Recessive Early-Onset Parkinson Disease Type 2

Chromosome 6-Linked Autosomal Recessive Parkinsonism

Early-Onset Parkinsonism With Diurnal Fluctuation

Parkinsonism Young Adult Onset

Parkinson Disease, Type 2

Parkinsonism, Juvenile

Cowden Syndrome 1

Bannayan-Riley-Ruvalcaba Syndrome

Pten Hamartoma Tumor Syndrome

Lhermitte-Duclos Disease

Bannayan-Zonana Syndrome

Phts

Riley-Smith Syndrome

Bzs

Ruvalcaba-Myhre-Smith Syndrome

Multiple Hamartoma Syndrome

Rmss

Brrs

Dysplastic Gangliocytoma Of The Cerebellum

CWS1

Cs

Cd

Mham

Pten Hamartoma Tumor Syndrome With Granular Cell Tumor

Macrocephaly Multiple Lipomas And Hemangiomata

Bannayan-Ruvalcaba-Riley Syndrome

Myhre-Riley-Smith Syndrome

LDD

Cerebelloparenchymal Disorder Vi

Hamartoma Syndrome, Multiple

Bbrs

Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata

Macrocephaly, Multiple Lipomas, And Hemangiomata

Macrocephaly Pseudopapilledema And Multiple Hemangiomas

Ruvalcaba -Myhre-Smith Syndrome

Ruvalcaba-Myhre Syndrome

Cowden Disease

Macrocephaly Pseudopapilledema And Multiple Hemangiomata

Cerebellar Granule Cell Hypertrophy And Megalencephaly

Cpd6

Pten Hamartoma Tumor Syndromes

Cowden Syndrome, Type 1

Mismatch Repair Cancer Syndrome

Turcot Syndrome

Brain Tumor-Polyposis Syndrome 1

Btp1 Syndrome

Btps1

Childhood Cancer Syndrome

Cmmr-D Syndrome

Cmmrds

Constitutional Mismatch Repair Deficiency Syndrome

Mmr Deficiency

Cancer Syndrome, Mismatch Repair

Malignant Childhood Neoplasm

Desmoid Tumor

Aggressive Fibromatosis

Desmoid Type Fibromatosis

Familial Infiltrative Fibromatosis

Desmoid Disorder, Hereditary

Fif

Fibromatosis, Familial Infiltrative

Deep Fibromatosis

Desmoid Fibromatosis

Hereditary Desmoid Disease

Musculoaponeurotic Fibromatosis

Desmoid-Type Fibromatosis

Fibromatosis, Aggressive

Desmoid Disease, Hereditary

Musculo-Aponeurotic Fibromatosis

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

Colorectal Adenoma

Colorectal Adenomas

Adenoma Of Large Intestine

Lynch Syndrome

Hereditary Nonpolyposis Colon Cancer

Hereditary Nonpolyposis Colorectal Cancer

Hereditary Nonpolyposis Colorectal Carcinoma

Hereditary Nonpolyposis Colorectal Neoplasms

Familial Nonpolyposis Colon Cancer

Hnpcc

Coca 1

Hereditary Defective Mismatch Repair Syndrome

Hereditary Non-Polyposis Colon Cancer

Hereditary Non-Polyposis Colon Cancer Syndrome

Hereditary Non-Polyposis Colorectal Cancer

Hereditary Non-Polyposis Colorectal Cancer Syndrome

Hereditary Nonpolyposis Colon Cancer Syndrome

Hereditary Nonpolyposis Colorectal Cancer Syndrome

Hereditary Nonpolyposis Colorectal Neoplasm

Hnpcc - Hereditary Nonpolyposis Colon Cancer

Cancer Family Syndrome

Familial Nonpolyposis Colorectal Cancer

Colon Cancer, Familial Nonpolyposis

Colorectal Neoplasms, Hereditary Nonpolyposis

Cancer, Colorectal, Nonpolyposis, Hereditary

Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Cowden Syndrome

Cowden Disease

Multiple Hamartoma Syndrome

Cowden'S Disease

Lhermitte-Duclos Disease

Cd

Cs

Mham

Dysplastic Gangliocytoma Of Cerebellum

Cowden'S Syndrome

Hamartoma Syndrome, Multiple

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Cockayne Syndrome A

Cockayne Syndrome Type 1

Cockayne Syndrome, Type A

Cockayne Syndrome Type I

CSA

Cockayne Syndrome Classic Form

Cockayne Syndrome Classical

Cockayne Syndrome Type A

Ckn1

Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome

Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

Breast And/Or Ovarian Cancer

Breast And Ovarian Cancer Syndrome

Hboc Syndrome

Hereditary Breast And Ovarian Cancer

Brca1- Brca2-Associated Hboc

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
Bos taurus NTHL1 VGNC VGNC:32301
Felis catus NTHL1 VGNC VGNC:68576
Canis familiaris NTHL1 VGNC VGNC:44004
Rattus norvegicus NTHL1 RGD RGD:1309289
Mus musculus NTHL1 MGD MGI:1313275
Macaca mulatta NTHL1 VGNC VGNC:75539