TRNT1 - tRNA nucleotidyl transferase 1 Gene

Homo sapiens

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

Gene ID: 51095 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15099	TRNT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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