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

    Gene ID: 23536, updated on 14-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:228
    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
    mouse all
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    Genomic context

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    See ADAT1 in Genome Data Viewer
    Location:
    16q23.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (75596868..75623281, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (81645156..81671584, complement)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid active region 11135 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11136 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7724 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7725 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11137 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11138 Neighboring gene Sharpr-MPRA regulatory region 12601 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7726 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75600739-75601492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11139 Neighboring gene GABA type A receptor associated protein like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11140 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7727 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11141 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75626991-75627988 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75627989-75628985 Neighboring gene Sharpr-MPRA regulatory region 14871 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75655412-75655932 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75655933-75656452 Neighboring gene H3K27ac hESC enhancers GRCh37_chr16:75656453-75656972 and GRCh37_chr16:75656973-75657492 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:75663368-75664567 Neighboring gene lysyl-tRNA synthetase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11144 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:75681635-75682592 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:75682593-75683548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11146 Neighboring gene TERF2 interacting protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Identification and characterization of a human tRNA-specific adenosine deaminase related to the ADAR family of pre-mRNA editing enzymes. Maas S, et al. Proc Natl Acad Sci U S A, 1999 Aug 3. PMID 10430867, Free PMC Article
    2. Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects. Dastani Z, et al. Eur J Hum Genet, 2010 Mar. PMID 19844255, Free PMC Article
    3. Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. Wolpin BM, et al. Nat Genet, 2014 Sep. PMID 25086665, Free PMC Article
    4. CFTR interactome mapping using the mammalian membrane two-hybrid high-throughput screening system. Lim SH, et al. Mol Syst Biol, 2022 Feb. PMID 35156780, Free PMC Article
    5. Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism. Antoniali G, et al. Nat Commun, 2017 Oct 6. PMID 28986522, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables adenosine deaminase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables tRNA-specific adenosine deaminase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables tRNA-specific adenosine deaminase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables tRNA-specific adenosine-37 deaminase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in tRNA processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in tRNA processing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    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_001324444.2 → NP_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:116 → 346
      A_deamin; Adenosine-deaminase (editase) domain

    2. NM_001324445.2 → NP_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, Q9NVB7, Q9UNG3
      UniProtKB/TrEMBL
      B2RBG6
      Related
      ENSP00000457501.2, ENST00000564657.2
      Conserved Domains (1) summary
      pfam02137
      Location:63 → 495
      A_deamin; Adenosine-deaminase (editase) domain

    3. NM_001324446.2 → NP_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:116 → 346
      A_deamin; Adenosine-deaminase (editase) domain

    4. NM_001324448.2 → NP_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
      UniProtKB/TrEMBL
      B2RBG6

    5. NM_001324449.2 → NP_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
      UniProtKB/TrEMBL
      B2RBG6

    6. NM_001324450.2 → NP_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_001324451.2 → NP_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_001324452.2 → NP_001311381.1  tRNA-specific adenosine deaminase 1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC025287
      UniProtKB/TrEMBL
      B4DL42

    9. NM_001324453.2 → NP_001311382.1  tRNA-specific adenosine deaminase 1 isoform f

      Status: REVIEWED

      Source sequence(s)
      AC025287

    10. NM_012091.5 → NP_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, Q9NVB7, Q9UNG3
      UniProtKB/TrEMBL
      B2RBG6
      Related
      ENSP00000310015.3, ENST00000307921.7
      Conserved Domains (1) summary
      pfam02137
      Location:63 → 495
      A_deamin; Adenosine-deaminase (editase) domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      81645156..81671584 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BUB4.1 GenPept UniProtKB/Swiss-Prot:Q9BUB4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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