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

Gene ID: 11044, updated on 11-Apr-2024

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; AllianceGenome:HGNC:16705
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
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Genomic context

Location:
5p15.31
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (6713432..6757044)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (6644097..6687689)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (6713545..6757157)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900934 Neighboring gene long intergenic non-protein coding RNA 2102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22336 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15900 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15901 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15902 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15903 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22337 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22338 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22339 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:6726225-6727027 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22340 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22342 Neighboring gene uncharacterized LOC107986401 Neighboring gene Sharpr-MPRA regulatory region 14782 Neighboring gene splicing factor 3A subunit 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:6770439-6770938 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:6772403-6773602

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

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables SMC family protein binding TAS
Traceable Author Statement
more info
PubMed 
enables guanylyltransferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables poly(A) RNA polymerase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables poly(A) RNA polymerase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 
part_of TRAMP complex IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nuclear membrane IDA
Inferred from Direct Assay
more info
 
is_active_in nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
terminal nucleotidyltransferase 4A
Names
DNA polymerase kappa
DNA polymerase sigma
PAP-associated domain-containing protein 7
TRAMP-like complex polyadenylate polymerase
non-canonical poly(A) RNA polymerase PAPD7
poly(A) RNA polymerase D7, non-canonical
polymerase (DNA directed) sigma
terminal guanylyltransferase
terminal uridylyltransferase 5
topoisomerase-related function protein 4-1
NP_001165276.2
NP_008930.2
XP_016864477.1
XP_047272620.1
XP_047272621.1
XP_047272622.1
XP_047272623.1
XP_047272624.1
XP_054207474.1
XP_054207475.1
XP_054207476.1
XP_054207477.1
XP_054207478.1
XP_054207479.1
XP_054207480.1

NCBI Reference Sequences (RefSeq)

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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_001171805.3NP_001165276.2  terminal nucleotidyltransferase 4A 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
    Conserved Domains (1) summary
    cl27230
    Location:240545
    PAP_assoc; Cid1 family poly A polymerase
  2. NM_006999.6NP_008930.2  terminal nucleotidyltransferase 4A 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
    Consensus CDS
    CCDS3871.2
    UniProtKB/Swiss-Prot
    A0A0X1KG68, A8K1E2, M1JCE6, O43289, Q17RZ1, Q5XG87, Q9Y6C1
    Related
    ENSP00000230859.7, ENST00000230859.8
    Conserved Domains (1) summary
    cl27230
    Location:240545
    PAP_assoc; Cid1 family poly A polymerase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    6713432..6757044
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047416667.1XP_047272623.1  terminal nucleotidyltransferase 4A isoform X2

  2. XM_047416666.1XP_047272622.1  terminal nucleotidyltransferase 4A isoform X1

    UniProtKB/TrEMBL
    A0A9H4DBI9
  3. XM_047416664.1XP_047272620.1  terminal nucleotidyltransferase 4A isoform X1

    UniProtKB/TrEMBL
    A0A9H4DBI9
  4. XM_017008988.3XP_016864477.1  terminal nucleotidyltransferase 4A isoform X2

    UniProtKB/TrEMBL
    B7ZLL4
    Conserved Domains (1) summary
    COG5260
    Location:2286
    TRF4; DNA polymerase sigma [Replication, recombination and repair]
  5. XM_047416668.1XP_047272624.1  terminal nucleotidyltransferase 4A isoform X3

  6. XM_047416665.1XP_047272621.1  terminal nucleotidyltransferase 4A isoform X1

    UniProtKB/TrEMBL
    A0A9H4DBI9
    Related
    ENSP00000488642.1, ENST00000631941.2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    6644097..6687689
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054351504.1XP_054207479.1  terminal nucleotidyltransferase 4A isoform X2

  2. XM_054351499.1XP_054207474.1  terminal nucleotidyltransferase 4A isoform X4

  3. XM_054351500.1XP_054207475.1  terminal nucleotidyltransferase 4A isoform X1

    UniProtKB/TrEMBL
    A0A9H4DBI9
  4. XM_054351502.1XP_054207477.1  terminal nucleotidyltransferase 4A isoform X1

    UniProtKB/TrEMBL
    A0A9H4DBI9
  5. XM_054351503.1XP_054207478.1  terminal nucleotidyltransferase 4A isoform X2

  6. XM_054351505.1XP_054207480.1  terminal nucleotidyltransferase 4A isoform X3

  7. XM_054351501.1XP_054207476.1  terminal nucleotidyltransferase 4A isoform X1

    UniProtKB/TrEMBL
    A0A9H4DBI9

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.