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

Gene ID: 23536, updated on 27-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
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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
  • 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

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