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TENT5A terminal nucleotidyltransferase 5A [ Homo sapiens (human) ]

Gene ID: 55603, updated on 7-Jun-2020

Summary

Official Symbol
TENT5Aprovided by HGNC
Official Full Name
terminal nucleotidyltransferase 5Aprovided by HGNC
Primary source
HGNC:HGNC:18345
See related
Ensembl:ENSG00000112773 MIM:611357
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
OI18; XTP11; FAM46A; C6orf37
Expression
Broad expression in bone marrow (RPKM 86.6), salivary gland (RPKM 24.3) and 18 other tissues See more
Orthologs

Genomic context

See TENT5A in Genome Data Viewer
Location:
6q14.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (81745730..81752681, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (82366829..82462607, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 210 Neighboring gene uncharacterized LOC105377872 Neighboring gene uncharacterized LOC105377873 Neighboring gene long intergenic non-protein coding RNA 1526

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
Osteogenesis imperfecta, type 18
MedGen: C4693736 OMIM: 617952 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.
NHGRI GWA Catalog
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
NHGRI GWA Catalog
Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20037, FLJ31495

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA adenylyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA adenylyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
RNA binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
mRNA stabilization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to bacterium IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
terminal nucleotidyltransferase 5A
Names
HBV X-transactivated gene 11 protein
HBV XAg-transactivated protein 11
family with sequence similarity 46 member A
protein FAM46A
putative nucleotidyltransferase FAM46A
retinal expressed gene C6orf37

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_056210.1 RefSeqGene

    Range
    5031..11982
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_017633.3NP_060103.2  terminal nucleotidyltransferase 5A

    See identical proteins and their annotated locations for NP_060103.2

    Status: VALIDATED

    Source sequence(s)
    AF350451, AI131001, BC007351, DA981608
    Consensus CDS
    CCDS34489.1
    UniProtKB/Swiss-Prot
    Q96IP4
    Related
    ENSP00000318298.6, ENST00000320172.11
    Conserved Domains (1) summary
    pfam07984
    Location:66383
    NTP_transf_7; Nucleotidyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    81745730..81752681 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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