ADAD1 (adenosine deaminase domain containing 1)

Gene

• Entrez ID: 132612
• Gene name: Adenosine deaminase domain containing 1
• Gene symbol: ADAD1
• Synonyms (NCBI Gene): Tenr
• Chromosome: 4
• Chromosome location: 4q27

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001673	Component	Male germ cell nucleus	IEA
GO:0003723	Function	RNA binding	IEA
GO:0003725	Function	Double-stranded RNA binding	IBA
GO:0003726	Function	Double-stranded RNA adenosine deaminase activity	IBA
GO:0004000	Function	Adenosine deaminase activity	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005730	Component	Nucleolus	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0006382	Process	Adenosine to inosine editing	IBA
GO:0006396	Process	RNA processing	IBA
GO:0006396	Process	RNA processing	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0008251	Function	TRNA-specific adenosine deaminase activity	IBA
GO:0030154	Process	Cell differentiation	IEA

Other IDs

• MIM: 614130
• HGNC: 30713
• e!Ensembl: ENSG00000164113

Protein

• UniProt ID: Q96M93
• Protein name: Adenosine deaminase domain-containing protein 1 (Testis nuclear RNA-binding protein)
• Protein function: Required for male fertility and normal male germ cell differentiation (By similarity). Plays a role in spermatogenesis (By similarity). Binds to RNA but not to DNA (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00035	dsrm	97 → 162	Double-stranded RNA binding motif	Domain
  PF02137	A_deamin	249 → 568	Adenosine-deaminase (editase) domain	Family

• Sequence:

  MASNNHWFQSSQVPSFAQMLKKNLPVQPATKTITTPTGWSSESYGLSKMASKVTQVTGNF
  PEPLLSKNLSSISNPVLPPKKIPKEFIMKYKRGEINPVSALHQFAQMQRVQLDLKETVTT
  GNVMGPYFAFCAVVDGIQYKTGLGQNKKESRSNAAKLALDELLQLDEPEPRILETSGPPP
  FPAEPVVLSELAYVSKVHYEGRHIQYAKISQIVKERFNQLISNRSEYLKYSSSLAAFIIE
  RAGQHEVVAIGTGEYNYSQDIKPDGRVLHDTHAVVTARRSLLRYFYRQLLLFYSKNPAMM
  EKSIFCTEPTSNLLTLKQNINICLYMNQLPKGSAQIKSQLRLNPHSISAFEANEELCLHV
  AVEGKIYLTVYCPKDGVNRISSMSSSDKLTRWEVLGVQGALLSHFIQPVYISSILIGDGN
  CSDTRGLEIAIKQRVDDALTSKLPMFYLVNRPHISLVPSAYPLQMNLEYKFLSLNWAQGD
  VSLEIVDGLSGKITESSPFKSGMSMASRLCKAAMLSRFNLLAKEAKKELLEAGTYHAAKC
  MSASYQEAKCKLKSYLQQHGYGSWIVKSPCIEQFNM

• Sequence length: 576

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis Juvenile	Juvenile arthritis	Pubtator	20722033	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	17999365, 19302705, 20553587	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	17999365, 20184734, 20553587	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	35173218	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	LHGDN	17558408		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	17999365	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	30863922	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32571262, 39208330	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	17999365, 20553587, 21875375, 30863922	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	19523143		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	35173218	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	GWASCAT_DG	29299148		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	19523143		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	22190364		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	20553587		★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	39208330	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASDB_DG	21297633		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	21297633		★★☆☆☆ Found in Text Mining + Unknown/Other Associations