TRNT1 - tRNA nucleotidyl transferase 1 Gene

Also Known as CCA1; RPEM; SIFD; MtCCA; CGI-47

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51095

About TRNT1

Cytogenetic location: 3p26.2 Genomic coordinates (GRCh38): 3:3,126,940-3,153,435 (from NCBI)

This gene has 31 transcripts (splice variants), 203 orthologues and is associated with 5 phenotypes. Ubiquitous expression in prostate (RPKM 8.6), testis (RPKM 7.5) and 25 other tissues.

Summary

The protein encoded by this gene is a CCA-adding enzyme which belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family. This essential enzyme functions by catalyzing the addition of the conserved nucleotide triplet CCA to the 3' terminus of tRNA molecules. Mutations in this gene result in sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

TRNT1 Products (5)

mRNA	Protein	Name
NM_001302946.2	NP_001289875.2	CCA tRNA nucleotidyltransferase 1, mitochondrial isoform 2
NM_001367321.1	NP_001354250.1	CCA tRNA nucleotidyltransferase 1, mitochondrial isoform 1
NM_001367322.1	NP_001354251.1	CCA tRNA nucleotidyltransferase 1, mitochondrial isoform 1
NM_001367323.1	NP_001354252.1	CCA tRNA nucleotidyltransferase 1, mitochondrial isoform 1
NM_182916.3	NP_886552.3	CCA tRNA nucleotidyltransferase 1, mitochondrial isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables CCA tRNA nucleotidyltransferase activity	IDA IDA: Inferred from direct assay	11504732	GOA
enables CCACCA tRNA nucleotidyltransferase activity	IDA IDA: Inferred from direct assay	22076379	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	30959222	GOA
enables tRNA binding	IDA IDA: Inferred from direct assay	11504732	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial tRNA 3'-end processing	IDA IDA: Inferred from direct assay	11504732	GOA
involved in rescue of stalled ribosome	IDA IDA: Inferred from direct assay	32075755	GOA
involved in tRNA 3'-terminal CCA addition	IDA IDA: Inferred from direct assay	25193871	GOA
involved in tRNA surveillance	IDA IDA: Inferred from direct assay	22076379	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in cytosol	IDA IDA: Inferred from direct assay	27317422	GOA
is active in mitochondrion	IDA IDA: Inferred from direct assay	27317422	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	11504732	GOA
is active in nucleus	IDA IDA: Inferred from direct assay	27317422	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

TRNT1 Protein Structure

PolyA_pol

PolyA_pol_RNAbd

0
100
200
300
400
434 a.a.

Protein Preferred Names	Protein Names
CCA tRNA nucleotidyltransferase 1, mitochondrial	ATP(CTP):tRNA nucleotidyltransferase

Related Diseases

Diseases	Alias
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	SIFD Congenital Sideroblastic Anemia-B-Cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome Sifd Syndrome
Retinitis Pigmentosa And Erythrocytic Microcytosis	RPEM Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay Trnt1 Deficiency Retinitis Pigmentosa With Erythrocytic Microcytosis Sifd Trnt1 Enzyme Deficiency Trnt1-Related Immunodeficiency Trnt1-Related Immunodeficiency+ Hematological Disease
Intellectual Developmental Disorder, Autosomal Recessive 2	Mental Retardation, Autosomal Recessive 2a MRT2 Mental Retardation, Autosomal Recessive 2 Mrt2a Autosomal Recessive Intellectual Developmental Disorder 2 Mental Retardation, Autosomal Recessive, Type 2
Sideroblastic Anemia	Anemia Sideroblastic Anemia, Sideroblastic Anemia, Hypochromic With Iron Loading
Cataract 3, Multiple Types	Cataract 3 Multiple Types CTRCT3 Cca2 Cataract, Congenital, Cerulean Type, 2 Cataract 3, Multiple Types, With Or Without Microcornea Cataract 3 Multiple Types With Or Without Microcornea Congenital Cerulean Type Cataract 2 Congenital Cataract Blue Dot Type 2 Congenital Cataract Cerulean Type 2 Cspc Sutural Cataract With Punctate And Cerulean Opacities
Plasma Cell Neoplasm	Plasma Cell Dyscrasia Paraproteinemias Plasma Cell Tumour Plasmacytic Tumor Multiple Myeloma Plasmacytoma Plasma Cell Tumours Plasma Cells Dyscrasia
Myeloma, Multiple	Multiple Myeloma Plasma Cell Myeloma Kahler Disease Myelomatosis Medullary Plasmacytoma Multiple Myeloma, Resistance To Myeloma Plasma Cell Dyscrasia Kahler'S Disease Multiple Myeloma, Susceptibility To Myeloma - Multiple Kahler-Bozzolo Disease Plasma Cell Myelomas MM Plasma Cell Neoplasm Primary Systemic Amyloidosis Primary Amyloidosis Immunoglobulin Deposition Disease Plasmacytic Myeloma Multiple Myelomata Multiple Myeloma Nos Multiple Myeloma Without Mention Of Remission Monostotic Plasma Cell Myeloma Mm - [Multiple Myeloma]
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Cataract 4, Multiple Types	Cataract 4 Multiple Types CTRCT4 Cca3 Pcc Aculeiform Cataract Cataract 4, Multiple Types, With Or Without Microcornea Cataract, Crystalline Aculeiform Caca Cataract, Congenital, Cerulean Type, 3 Congenital Cataract Cerulean Type 3 Cataract Congenital Dominant Non Nuclear Ccp Cataract, Nonnuclear Polymorphic Congenital Cataract, Punctate, Progressive Juvenile-Onset Cataract 4 Multiple Types With Or Without Microcornea Autosomal Dominant Nonnuclear Polymorphic Congenital Cataract Cataract, Polymorphic Congenital Congenital Cataract Blue Dot Type 3 Congenital Non-Nuclear Polymorphic Cataract Crystalline Aculeiform Cataract Punctate, Progressive Juvenile-Onset, Cataract Cataract, Nonnuclear Polymorphic Congenital, Autosomal Dominant
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities

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-RS15099	TRNT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	TRNT1	MGD	MGI:1917297
Felis catus	TRNT1	VGNC	VGNC:66579
Canis familiaris	TRNT1	VGNC	VGNC:47862
Rattus norvegicus	TRNT1	RGD	RGD:1308857
Bos taurus	TRNT1	VGNC	VGNC:36377
Macaca mulatta	TRNT1	VGNC	VGNC:79073
Others	TRNT1	NCBI