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

    Gene ID: 23536, updated on 23-Nov-2021

    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
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    Genomic context

    See ADAT1 in Genome Data Viewer
    Location:
    16q23.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (75596868..75623281, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (75630766..75657179, 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
    enables RNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables tRNA-specific adenosine deaminase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in 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)

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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.

    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
      Related
      ENSP00000457501.2, ENST00000564657.2
      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 109.20211119

    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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