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ADAT3 - adenosine deaminase tRNA specific 3 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 113179

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	References	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

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

ADAT3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ADAT3	Q96EY9	ADAT2	Homo sapiens	Q7Z6V5	Anti Tag CoIP	33961781
Intra	ADAT3	Q96EY9	FBLIM1	Homo sapiens	Q8WUP2	Y2H Prey Pooling	32296183
Intra	ADAT3	Q96EY9	FBLIM1	Homo sapiens	Q8WUP2	Y2H Array	32296183
Intra	ADAT3	Q96EY9	SORBS3	Homo sapiens	O60504	Y2H Prey Pooling	32296183
Intra	ADAT3	Q96EY9	SORBS3	Homo sapiens	O60504	Y2H Array	32296183
Intra	ADAT3	Q96EY9	CDA	Homo sapiens	P32320	Y2H Prey Pooling	32296183
Intra	ADAT3	Q96EY9	CDA	Homo sapiens	P32320	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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

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 Set	/	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
Others	ADAT3	NCBI