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

Gene ID: 132612, updated on 23-Nov-2023

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 nucleus. Predicted to be active in cytoplasm and nucleolus. [provided by Alliance of Genome Resources, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (122379011..122429784)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (125683157..125733930)
105.20220307 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
  • 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. Statistical modelling and phylogenetic analysis of a deaminase domain. Mian IS, et al. J Comput Biol, 1998 Spring. PMID 9541871
  2. Multiple sclerosis association study with the TENR-IL2-IL21 region in a Spanish population. Fedetz M, et al. Tissue Antigens, 2009 Sep. PMID 19523143
  3. Distribution of Tenr, an RNA-binding protein, in a lattice-like network within the spermatid nucleus in the mouse. Schumacher JM, et al. Biol Reprod, 1995 Jun. PMID 7543294
  4. Non-HLA gene polymorphisms in juvenile idiopathic arthritis: associations with disease outcome. Alberdi-Saugstrup M, et al. Scand J Rheumatol, 2017 Sep. PMID 28145159
  5. 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. Hollis-Moffatt JE, et al. Arthritis Res Ther, 2010. PMID 20553587, Free PMC Article

See all (19) citations in PubMed

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)

Genotypes

General gene information

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Homology

Clone Names

  • FLJ32741

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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_2023_10

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

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