2. Gene
  3. ADAT3 - adenosine deaminase tRNA specific 3 Gene

ADAT3 - adenosine deaminase tRNA specific 3 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as TAD3; MRT36; FWP005; MST121; NEDBGF; S863-5; MSTP121

Gene ID: 113179 | Gene type: protein coding

About ADAT3

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:1,905,399-1,913,447 (from NCBI)

This gene has 2 transcripts (splice variants), 133 orthologues, 1 paralogue and is associated with 2 phenotypes. Broad expression in colon (RPKM 2.1), stomach (RPKM 1.3) and 22 other tissues.

Summary

This gene encodes a subunit of a tRNA-specific Adenosine Deaminase. This heterodimeric Enzyme converts adenosine to inosine in the tRNA anticodon. A mutation in this gene causes a syndrome characterized by intellectual disability and strabismus. This gene shares its 5' exon with the overlapping gene, secretory carrier membrane protein 4 (Gene ID: 113178). [provided by RefSeq, Jul 2016]

ADAT3 Products(2)

mRNA Protein Name
NM_001329533.2 NP_001316462.1 probable inactive tRNA-specific adenosine deaminase-like protein 3 isoform 2
NM_138422.4 NP_612431.2 probable inactive tRNA-specific adenosine deaminase-like protein 3 isoform 1
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ADAT3 Protein Structure

dCMP_cyt_deam_1

dCMP_cyt_deam_1: Cytidine and deoxycytidylate deaminase zinc-binding region (174 - 309)

  • 0
  • 100
  • 200
  • 300
  • 351 a.a.
Protein Preferred Names Protein Names

probable inactive tRNA-specific adenosine deaminase-like protein 3

adenosine deaminase, tRNA-specific 3, TAD3 homolog

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies

Intellectual Disability-Strabismus Syndrome

NEDBGF

Mental Retardation, Autosomal Recessive 36, Formerly

Mrt36, Formerly

Autosomal Recessive Mental Retardation 36

Mrt36

Mental Retardation, Autosomal Recessive, Type 36
Cone-Rod Dystrophy 10

CORD10

Dystrophy, Cone-Rod, Type 10
Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1
46,Xy Sex Reversal 9

SRXY9

46,Xy Sex Reversal, Zfpm2-Related

46xy Sex Reversal 9
Myxosarcoma
Neuropathy, Hereditary Sensory And Autonomic, Type Iii

Familial Dysautonomia

Riley-Day Syndrome

Dysautonomia, Familial

HSAN3

Hsan Iii

Fd

Hereditary Sensory And Autonomic Neuropathy Type Iii

Dys

Hereditary Sensory And Autonomic Neuropathy 3

Riley Day Syndrome

Familial Autonomic Nervous Dysfunction

Hereditary Sensory Autonomic Neuropathy Type Iii

Hsan 3

Hsn 3

Hereditary Sensory Neuropathy Type 3

Hsan Type Iii

Hsn-Iii

Hereditary Sensory And Autonomic Neuropathy Type 3

Neuropathy, Hereditary Sensory And Autonomic, 3

Hsn Iii

Dysautonomia Familial

Neuropathy, Sensory And Autonomic, Hereditary, Type Iii

Hsan3 - [Hereditary Sensory And Autonomic Neuropathy Type 3]
Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability
Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive

Autosomal Recessive Mental Retardation

Autosomal Recessive Non-Syndromic Mental Retardation

Autosomal Recessive Non-Syndromic Intellectual Disability
Syndromic Intellectual Disability
Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS00322 ADAT3 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus ADAT3 RGD RGD:1642417
Macaca mulatta ADAT3 VGNC VGNC:108458
Mus musculus ADAT3 MGD MGI:1924344