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ADAT1 adenosine deaminase tRNA specific 1 [ Homo sapiens (human) ]

Gene ID: 23536, updated on 24-Nov-2020

Summary

Official Symbol
ADAT1provided by HGNC
Official Full Name
adenosine deaminase tRNA specific 1provided by HGNC
Primary source
HGNC:HGNC:228
See related
Ensembl:ENSG00000065457 MIM:604230
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
HADAT1
Summary
This gene is a member of the ADAR (adenosine deaminase acting on RNA) family. Using site-specific adenosine modification, proteins encoded by these genes participate in the pre-mRNA editing of nuclear transcripts. The protein encoded by this gene, tRNA-specific adenosine deaminase 1, is responsible for the deamination of adenosine 37 to inosine in eukaryotic tRNA. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]
Expression
Ubiquitous expression in testis (RPKM 4.0), thyroid (RPKM 2.5) and 25 other tissues See more
Orthologs

Genomic context

See ADAT1 in Genome Data Viewer
Location:
16q23.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (75596868..75623281, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (75622718..75657221, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene transmembrane protein 231 Neighboring gene GABA type A receptor associated protein like 2 Neighboring gene lysyl-tRNA synthetase 1 Neighboring gene TERF2 interacting protein

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

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
tRNA-specific adenosine deaminase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
tRNA processing IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
tRNA-specific adenosine deaminase 1
Names
adenosine deaminase acting on tRNA
tRNA-specific adenosine-37 deaminase
NP_001311373.1
NP_001311374.1
NP_001311375.1
NP_001311377.1
NP_001311378.1
NP_001311379.1
NP_001311380.1
NP_001311381.1
NP_001311382.1
NP_036223.2

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_050747.1 RefSeqGene

    Range
    5043..31456
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001324444.2NP_001311373.1  tRNA-specific adenosine deaminase 1 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) and variant 4 both encode the same isoform (b).
    Source sequence(s)
    AC025287, AK001687, DC395938
    UniProtKB/Swiss-Prot
    Q9BUB4
    Conserved Domains (1) summary
    cl02661
    Location:116346
    A_deamin; Adenosine-deaminase (editase) domain
  2. NM_001324445.2NP_001311374.1  tRNA-specific adenosine deaminase 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) and variant 1 both encode the same isoform (a).
    Source sequence(s)
    AC025287
    Consensus CDS
    CCDS10922.1
    UniProtKB/Swiss-Prot
    Q9BUB4
    Conserved Domains (1) summary
    pfam02137
    Location:63495
    A_deamin; Adenosine-deaminase (editase) domain
  3. NM_001324446.2NP_001311375.1  tRNA-specific adenosine deaminase 1 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) and variant 2 both encode the same isoform(b).
    Source sequence(s)
    AC025287
    UniProtKB/Swiss-Prot
    Q9BUB4
    Conserved Domains (1) summary
    cl02661
    Location:116346
    A_deamin; Adenosine-deaminase (editase) domain
  4. NM_001324448.2NP_001311377.1  tRNA-specific adenosine deaminase 1 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) and variant 6 both encode the same isoform (c).
    Source sequence(s)
    AC025287
  5. NM_001324449.2NP_001311378.1  tRNA-specific adenosine deaminase 1 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) and variant 5 both encode the same isoform (c).
    Source sequence(s)
    AC025287
  6. NM_001324450.2NP_001311379.1  tRNA-specific adenosine deaminase 1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) and variant 8 both encode the same isoform (d).
    Source sequence(s)
    AC025287
  7. NM_001324451.2NP_001311380.1  tRNA-specific adenosine deaminase 1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) and variant 7 both encode the same isoform (d).
    Source sequence(s)
    AC025287
  8. NM_001324452.2NP_001311381.1  tRNA-specific adenosine deaminase 1 isoform e

    Status: REVIEWED

    Source sequence(s)
    AC025287
  9. NM_001324453.2NP_001311382.1  tRNA-specific adenosine deaminase 1 isoform f

    Status: REVIEWED

    Source sequence(s)
    AC025287
  10. NM_012091.5NP_036223.2  tRNA-specific adenosine deaminase 1 isoform a

    See identical proteins and their annotated locations for NP_036223.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1 and 3 both encode the same isoform (a).
    Source sequence(s)
    AC025287, BC002758, DC395938
    Consensus CDS
    CCDS10922.1
    UniProtKB/Swiss-Prot
    Q9BUB4
    Related
    ENSP00000310015.3, ENST00000307921.7
    Conserved Domains (1) summary
    pfam02137
    Location:63495
    A_deamin; Adenosine-deaminase (editase) domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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
    75596868..75623281 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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