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NTHL1 nth like DNA glycosylase 1 [ Homo sapiens (human) ]

Gene ID: 4913, updated on 24-Dec-2019

Summary

Official Symbol
NTHL1provided by HGNC
Official Full Name
nth like DNA glycosylase 1provided by HGNC
Primary source
HGNC:HGNC:8028
See related
Ensembl:ENSG00000065057 MIM:602656
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FAP3; NTH1; OCTS3; hNTH1
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]
Expression
Ubiquitous expression in spleen (RPKM 7.3), ovary (RPKM 6.4) and 25 other tissues See more
Orthologs

Genomic context

See NTHL1 in Genome Data Viewer
Location:
16p13.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (2039815..2047872, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (2089816..2097931, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr16.496 Neighboring gene SLC9A3 regulator 2 Neighboring gene TSC complex subunit 2 Neighboring gene uncharacterized LOC105371049 Neighboring gene microRNA 1225 Neighboring gene polycystin 1, transient receptor potential channel interacting

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Familial adenomatous polyposis 3
MedGen: C4225157 OMIM: 616415 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Joint influence of small-effect genetic variants on human longevity.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
base-excision repair, AP site formation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
base-excision repair, AP site formation IDA
Inferred from Direct Assay
more info
PubMed 
depyrimidination TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA incision, 5'-to lesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleotide-excision repair, DNA incision, 5'-to lesion IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
endonuclease III-like protein 1
Names
DNA glycoslyase/AP lyase
DNA glycosylase/AP lyase
bifunctional DNA N-glycoslyase/DNA-(apurinic or apyrimidinic site) lyase
bifunctional DNA N-glycosylase/DNA-(apurinic or apyrimidinic site) lyase
nth endonuclease III-like 1
NP_001305122.2
NP_001305123.1
NP_002519.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008412.1 RefSeqGene

    Range
    5033..13047
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1366

mRNA and Protein(s)

  1. NM_001318193.2NP_001305122.2  endonuclease III-like protein 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 5' coding region, compared to variant 1. It encodes isoform 2, which lacks an internal segment and is shorter, compared to isoform 1.
    Source sequence(s)
    BC003014, BE900738, U79718
    Related
    ENSP00000498821.1, ENST00000651583.1
    Conserved Domains (1) summary
    cl27658
    Location:117245
    HHH; Helix-hairpin-helix motif
  2. NM_001318194.2NP_001305123.1  endonuclease III-like protein 1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform 3, which has a distinct N-terminus, and is shorter, compared to isoform 1.
    Source sequence(s)
    BC003014, BG468617, HY094895
    UniProtKB/Swiss-Prot
    P78549
    Related
    ENSP00000498290.1, ENST00000651522.1
    Conserved Domains (3) summary
    smart00525
    Location:171191
    FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)
    smart00478
    Location:20169
    ENDO3c; endonuclease III
    COG0177
    Location:11192
    Nth; Endonuclease III [Replication, recombination and repair]
  3. NM_002528.7NP_002519.2  endonuclease III-like protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    U79718, U81285
    Consensus CDS
    CCDS10457.1
    Related
    ENSP00000498421.1, ENST00000651570.2
    Conserved Domains (1) summary
    COG0177
    Location:121302
    Nth; Endonuclease III [Replication, recombination and repair]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    2039815..2047872 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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