NTHL1 - nth like DNA glycosylase 1 Gene

Also Known as FAP3; NTH1; OCTS3; hNTH1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4913

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA N-glycosylase activity	IDA IDA: Inferred from direct assay	10882850	GOA
enables DNA-(apurinic or apyrimidinic site) endonuclease activity	IDA IDA: Inferred from direct assay	8990169	GOA
enables class I DNA-(apurinic or apyrimidinic site) endonuclease activity	IDA IDA: Inferred from direct assay	8990169	GOA
enables damaged DNA binding	IDA IDA: Inferred from direct assay	9927729	GOA
enables double-stranded DNA binding	IDA IDA: Inferred from direct assay	15358233	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9927729	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in base-excision repair, AP site formation	IDA IDA: Inferred from direct assay	9927729	GOA
involved in nucleotide-excision repair	IDA IDA: Inferred from direct assay	8990169	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	12531031	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

NTHL1 Protein Structure

HhH-GPD

HHH

0
100
200
312 a.a.

Protein Preferred Names	Protein Names
endonuclease III-like protein 1	DNA glycoslyase/AP lyase

NTHL1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81690	NTH1 Antibody (YA1435)	WB, ICC/IF	Human
HY-P81690A	NTH1 Antibody (YA1435)(PBS only)	WB, ICC/IF	Human

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-184013	SU0617	Inhibitor	/	Unkown
HY-RS09618	NTHL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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
Others	NTHL1	NCBI