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TENT4A terminal nucleotidyltransferase 4A [ Homo sapiens (human) ]

Gene ID: 11044, updated on 2-Oct-2018

Summary

Official Symbol
TENT4Aprovided by HGNC
Official Full Name
terminal nucleotidyltransferase 4Aprovided by HGNC
Primary source
HGNC:HGNC:16705
See related
Ensembl:ENSG00000112941 MIM:605198; Vega:OTTHUMG00000090457
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
LAK1; POLK; POLS; TRF4; LAK-1; PAPD7; TRF41; TRF4-1; TUTASE5
Summary
The protein encoded by this gene is a DNA polymerase that is likely involved in DNA repair. In addition, the encoded protein may be required for sister chromatid adhesion. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jan 2010]
Expression
Ubiquitous expression in bone marrow (RPKM 5.8), skin (RPKM 5.5) and 25 other tissues See more
Orthologs

Genomic context

See TENT4A in Genome Data Viewer
Location:
5p15.31
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (6713938..6757048)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (6714076..6757161)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene NOP2/Sun RNA methyltransferase family member 2 Neighboring gene steroid 5 alpha-reductase 1 Neighboring gene long intergenic non-protein coding RNA 2102 Neighboring gene uncharacterized LOC107986401 Neighboring gene uncharacterized LOC102724943

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
NHGRI GWA Catalog
Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy.
NHGRI GWA Catalog
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
NHGRI GWA Catalog

Pathways from BioSystems

  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
    Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
  • Oncogenic MAPK signaling, organism-specific biosystem (from REACTOME)
    Oncogenic MAPK signaling, organism-specific biosystemThe importance of the RAS/RAF/MAPK cascade in regulating cellular proliferation, differentiation and survival is highlighted by the fact that components of the pathway are mutated with high frequency...
  • RNA degradation, organism-specific biosystem (from KEGG)
    RNA degradation, organism-specific biosystemThe correct processing, quality control and turnover of cellular RNA molecules are critical to many aspects in the expression of genetic information. In eukaryotes, two major pathways of mRNA decay e...
  • RNA degradation, conserved biosystem (from KEGG)
    RNA degradation, conserved biosystemThe correct processing, quality control and turnover of cellular RNA molecules are critical to many aspects in the expression of genetic information. In eukaryotes, two major pathways of mRNA decay e...
  • Signaling by BRAF and RAF fusions, organism-specific biosystem (from REACTOME)
    Signaling by BRAF and RAF fusions, organism-specific biosystemIn addition to the more prevalent point mutations, BRAF and RAF1 are also subject to activation as a result of translocation events that yield truncated or fusion products (Jones et al, 2008; Cin et ...
  • TRAMP complex, organism-specific biosystem (from KEGG)
    TRAMP complex, organism-specific biosystemStructural complex; Genetic information processing; RNA processing
  • TRAMP complex, conserved biosystem (from KEGG)
    TRAMP complex, conserved biosystemStructural complex; Genetic information processing; RNA processing

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
SMC family protein binding TAS
Traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
polynucleotide adenylyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
double-strand break repair NAS
Non-traceable Author Statement
more info
PubMed 
histone mRNA catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic chromosome condensation NAS
Non-traceable Author Statement
more info
PubMed 
response to drug IDA
Inferred from Direct Assay
more info
PubMed 
sister chromatid cohesion TAS
Traceable Author Statement
more info
PubMed 
snoRNA polyadenylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
TRAMP complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear membrane IDA
Inferred from Direct Assay
more info
 
nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
non-canonical poly(A) RNA polymerase PAPD7
Names
DNA polymerase kappa
DNA polymerase sigma
PAP-associated domain-containing protein 7
TRAMP-like complex polyadenylate polymerase
poly(A) RNA polymerase D7, non-canonical
polymerase (DNA directed) sigma
terminal uridylyltransferase 5
topoisomerase-related function protein 4-1
XP_005248291.1
XP_011512247.1
XP_016864477.1
XP_016864478.1
XP_016864479.1
XP_024310111.1

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.

mRNA and Protein(s)

  1. NM_001171805.2NP_001165276.2  non-canonical poly(A) RNA polymerase PAPD7 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AB005754, AC122710, AI871781, BC143882, KC424495, R49553
    Conserved Domains (1) summary
    cl27230
    Location:240545
    PAP_assoc; Cid1 family poly A polymerase
  2. NM_006999.5NP_008930.2  non-canonical poly(A) RNA polymerase PAPD7 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB005754, AC122710, AK289857, BC084567, BC143882, KC424495, R49553
    Consensus CDS
    CCDS3871.1
    Conserved Domains (1) summary
    cl27230
    Location:240545
    PAP_assoc; Cid1 family poly A polymerase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    6713938..6757048
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248234.4XP_005248291.1  non-canonical poly(A) RNA polymerase PAPD7 isoform X1

    UniProtKB/TrEMBL
    A0A0X1KG68
    Related
    ENSP00000230859.7, OTTHUMP00000115520, ENST00000230859.7
    Conserved Domains (1) summary
    cl27230
    Location:240545
    PAP_assoc; Cid1 family poly A polymerase
  2. XM_024454343.1XP_024310111.1  non-canonical poly(A) RNA polymerase PAPD7 isoform X3

    Related
    ENSP00000488642.1, ENST00000631941.2
    Conserved Domains (2) summary
    cl26464
    Location:369474
    Atrophin-1; Atrophin-1 family
    cl27230
    Location:2295
    PAP_assoc; Cid1 family poly A polymerase
  3. XM_017008989.2XP_016864478.1  non-canonical poly(A) RNA polymerase PAPD7 isoform X4

  4. XM_017008988.2XP_016864477.1  non-canonical poly(A) RNA polymerase PAPD7 isoform X4

  5. XM_011513945.1XP_011512247.1  non-canonical poly(A) RNA polymerase PAPD7 isoform X2

    Conserved Domains (2) summary
    cd05402
    Location:10121
    NT_PAP_TUTase; Nucleotidyltransferase (NT) domain of poly(A) polymerases and terminal uridylyl transferases
    pfam03828
    Location:135195
    PAP_assoc; Cid1 family poly A polymerase
  6. XM_017008990.1XP_016864479.1  non-canonical poly(A) RNA polymerase PAPD7 isoform X5

    UniProtKB/TrEMBL
    B4E0T3
    Conserved Domains (1) summary
    pfam03828
    Location:258
    PAP_assoc; Cid1 family poly A polymerase

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001171806.1: Suppressed sequence

    Description
    NM_001171806.1: This RefSeq was removed because currently there is insufficient support for the transcript and protein.
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