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    ADAD1 adenosine deaminase domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 132612, updated on 14-Nov-2024

    Summary

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    Official Symbol
    ADAD1provided by HGNC
    Official Full Name
    adenosine deaminase domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:30713
    See related
    Ensembl:ENSG00000164113 MIM:614130; AllianceGenome:HGNC:30713
    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
    Tenr
    Summary
    Predicted to enable double-stranded RNA adenosine deaminase activity; double-stranded RNA binding activity; and tRNA-specific adenosine deaminase activity. Predicted to be involved in RNA processing and adenosine to inosine editing. Predicted to act upstream of or within spermatid development. Predicted to be located in male germ cell nucleus. Predicted to be active in cytoplasm and nucleolus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 52.2) See more
    Orthologs
    mouse all
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    Genomic context

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    See ADAD1 in Genome Data Viewer
    Location:
    4q27
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (122379011..122429784)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (125683157..125733930)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (123300166..123350939)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 335, pseudogene Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:123072777-123073578 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15664 Neighboring gene bridge-like lipid transfer protein family member 1 Neighboring gene NANOG hESC enhancer GRCh37_chr4:123226936-123227466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21874 Neighboring gene Sharpr-MPRA regulatory region 4201 Neighboring gene interleukin 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:123495468-123496667 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:123541308-123542507 Neighboring gene IL21 antisense RNA 1 Neighboring gene interleukin 21

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ADAD1_rs17388568 AA was associated with a lower risk of having joints with Limitation of motion in patients with Juvenile Idiopathic Arthritis.
      Title: Non-HLA gene polymorphisms in juvenile idiopathic arthritis: associations with disease outcome.
    2. The KIAA1109-TENR-IL2-IL21 gene cluster, that encodes an interleukin (IL-21) that plays an important role in Th17 cell biology, is the 20th locus for which there is a genome-wide level of support for association with rheumatoid arthritis.
      Title: Only one independent genetic association with rheumatoid arthritis within the KIAA1109-TENR-IL2-IL21 locus in Caucasian sample sets: confirmation of association of rs6822844 with rheumatoid arthritis at a genome-wide level of significance.
    3. Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
      Title: Only one independent genetic association with rheumatoid arthritis within the KIAA1109-TENR-IL2-IL21 locus in Caucasian sample sets: confirmation of association of rs6822844 with rheumatoid arthritis at a genome-wide level of significance.
    4. Using a family-based study, we have provided a trend for the association of the KIAA1109/Tenr/IL2/IL21 gene region with rheumatoid arthritis in populations of European descent
      Title: Testing for the association of the KIAA1109/Tenr/IL2/IL21 gene region with rheumatoid arthritis in a European family-based study.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Multiple sclerosis association study with the TENR-IL2-IL21 region in a Spanish population.
    6. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide searching of rare genetic variants in WTCCC data.
    7. Genetic variation in a linkage disequilibrium block encompassing the KIAA1109-TENR-IL2-IL21 genes predisposes to celiac disease.
      Title: A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.
    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
    A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
    EBI GWAS Catalog
    Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
    EBI GWAS Catalog
    Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
    EBI GWAS Catalog
    Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus.
    EBI GWAS Catalog
    Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
    EBI GWAS Catalog
    Newly identified genetic risk variants for celiac disease related to the immune response.
    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)

    General gene information

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    Homology

    Clone Names

    • FLJ32741

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables adenosine deaminase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables double-stranded RNA adenosine deaminase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables double-stranded RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables tRNA-specific adenosine deaminase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in RNA processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in adenosine to inosine editing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatid development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in male germ cell nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    adenosine deaminase domain-containing protein 1
    Names
    adenosine deaminase domain containing 1 (testis-specific)
    testis nuclear RNA-binding protein
    testis tissue sperm-binding protein Li 92mP

    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.

    mRNA and Protein(s)

    1. NM_001159285.2 → NP_001152757.1  adenosine deaminase domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001152757.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site in the middle portion of the coding region compared to variant 1. This results in a shorter protein (isoform 2) compared to isoform 1.
      Source sequence(s)
      BC040229
      Consensus CDS
      CCDS54800.1
      UniProtKB/TrEMBL
      A0A140VKH5
      Related
      ENSP00000373376.2, ENST00000388724.6
      Conserved Domains (2) summary
      smart00358
      Location:97 → 162
      DSRM; Double-stranded RNA binding motif
      pfam02137
      Location:249 → 557
      A_deamin; Adenosine-deaminase (editase) domain

    2. NM_001159295.2 → NP_001152767.1  adenosine deaminase domain-containing protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001152767.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AK057303, AK093297
      Consensus CDS
      CCDS54801.1
      UniProtKB/Swiss-Prot
      Q96M93
      Related
      ENSP00000373377.2, ENST00000388725.2
      Conserved Domains (2) summary
      smart00358
      Location:79 → 144
      DSRM; Double-stranded RNA binding motif
      pfam02137
      Location:231 → 550
      A_deamin; Adenosine-deaminase (editase) domain

    3. NM_139243.4 → NP_640336.1  adenosine deaminase domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_640336.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK057303, DB058857
      Consensus CDS
      CCDS34058.1
      UniProtKB/Swiss-Prot
      A6NKN4, B7WPB0, D3DNX2, Q8IWG6, Q8NA06, Q96M93
      Related
      ENSP00000296513.2, ENST00000296513.7
      Conserved Domains (2) summary
      smart00358
      Location:97 → 162
      DSRM; Double-stranded RNA binding motif
      pfam02137
      Location:249 → 568
      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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      122379011..122429784
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005262743.4 → XP_005262800.1  adenosine deaminase domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005262800.1

      UniProtKB/Swiss-Prot
      A6NKN4, B7WPB0, D3DNX2, Q8IWG6, Q8NA06, Q96M93
      Conserved Domains (2) summary
      smart00358
      Location:97 → 162
      DSRM; Double-stranded RNA binding motif
      pfam02137
      Location:249 → 568
      A_deamin; Adenosine-deaminase (editase) domain

    2. XM_024453888.1 → XP_024309656.1  adenosine deaminase domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NKN4, B7WPB0, D3DNX2, Q8IWG6, Q8NA06, Q96M93
      Conserved Domains (2) summary
      smart00358
      Location:97 → 162
      DSRM; Double-stranded RNA binding motif
      pfam02137
      Location:249 → 568
      A_deamin; Adenosine-deaminase (editase) domain

    3. XM_024453889.1 → XP_024309657.1  adenosine deaminase domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A140VKH5
      Conserved Domains (2) summary
      smart00358
      Location:97 → 162
      DSRM; Double-stranded RNA binding motif
      pfam02137
      Location:249 → 557
      A_deamin; Adenosine-deaminase (editase) domain

    4. XM_005262741.3 → XP_005262798.1  adenosine deaminase domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005262798.1

      UniProtKB/Swiss-Prot
      A6NKN4, B7WPB0, D3DNX2, Q8IWG6, Q8NA06, Q96M93
      Conserved Domains (2) summary
      smart00358
      Location:97 → 162
      DSRM; Double-stranded RNA binding motif
      pfam02137
      Location:249 → 568
      A_deamin; Adenosine-deaminase (editase) domain

    5. XM_005262744.4 → XP_005262801.1  adenosine deaminase domain-containing protein 1 isoform X2

      See identical proteins and their annotated locations for XP_005262801.1

      UniProtKB/TrEMBL
      A0A140VKH5
      Conserved Domains (2) summary
      smart00358
      Location:97 → 162
      DSRM; Double-stranded RNA binding motif
      pfam02137
      Location:249 → 557
      A_deamin; Adenosine-deaminase (editase) domain

    6. XM_005262745.4 → XP_005262802.1  adenosine deaminase domain-containing protein 1 isoform X3

      Conserved Domains (2) summary
      smart00358
      Location:97 → 162
      DSRM; Double-stranded RNA binding motif
      pfam02137
      Location:226 → 545
      A_deamin; Adenosine-deaminase (editase) domain

    7. XM_011531603.3 → XP_011529905.1  adenosine deaminase domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011529905.1

      UniProtKB/Swiss-Prot
      A6NKN4, B7WPB0, D3DNX2, Q8IWG6, Q8NA06, Q96M93
      Conserved Domains (2) summary
      smart00358
      Location:97 → 162
      DSRM; Double-stranded RNA binding motif
      pfam02137
      Location:249 → 568
      A_deamin; Adenosine-deaminase (editase) domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      125683157..125733930
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348901.1 → XP_054204876.1  adenosine deaminase domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NKN4, B7WPB0, D3DNX2, Q8IWG6, Q8NA06, Q96M93

    2. XM_054348900.1 → XP_054204875.1  adenosine deaminase domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NKN4, B7WPB0, D3DNX2, Q8IWG6, Q8NA06, Q96M93

    3. XM_054348904.1 → XP_054204879.1  adenosine deaminase domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A140VKH5

    4. XM_054348903.1 → XP_054204878.1  adenosine deaminase domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A140VKH5

    5. XM_054348905.1 → XP_054204880.1  adenosine deaminase domain-containing protein 1 isoform X3

    6. XM_054348899.1 → XP_054204874.1  adenosine deaminase domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NKN4, B7WPB0, D3DNX2, Q8IWG6, Q8NA06, Q96M93

    7. XM_054348902.1 → XP_054204877.1  adenosine deaminase domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NKN4, B7WPB0, D3DNX2, Q8IWG6, Q8NA06, Q96M93
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96M93.1 GenPept UniProtKB/Swiss-Prot:Q96M93

    Gene LinkOut

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

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