TRNT1 - tRNA nucleotidyl transferase 1 Gene

中文名称：tRNA 核苷酸转移酶 1

种属: Homo sapiens

同用名: CCA1; RPEM; SIFD; MtCCA; CGI-47

基因 ID: 51095 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是一种添加 CCA 的酶，属于 tRNA 核苷酸转移酶/poly (A) 聚合酶家族。这种必需的酶通过催化将保守的核苷酸三联体 CCA 添加到 tRNA 分子的 3' 末端来发挥作用。该基因的突变导致铁粒幼细胞性贫血伴有 B 细胞免疫缺陷、周期性发热和发育迟缓。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 12 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables CCA tRNA nucleotidyltransferase activity	IDA IDA: 通过直接分析推断	11504732	GOA
enables CCACCA tRNA nucleotidyltransferase activity	IDA IDA: 通过直接分析推断	22076379	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	32814053	GOA
enables protein homodimerization activity	IDA IDA: 通过直接分析推断	30959222	GOA
enables tRNA binding	IDA IDA: 通过直接分析推断	11504732	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in mitochondrial tRNA 3'-end processing	IDA IDA: 通过直接分析推断	11504732	GOA
involved in rescue of stalled ribosome	IDA IDA: 通过直接分析推断	32075755	GOA
involved in tRNA 3'-terminal CCA addition	IDA IDA: 通过直接分析推断	25193871	GOA
involved in tRNA surveillance	IDA IDA: 通过直接分析推断	22076379	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
is active in cytosol	IDA IDA: 通过直接分析推断	27317422	GOA
is active in mitochondrion	IDA IDA: 通过直接分析推断	27317422	GOA
located in mitochondrion	IDA IDA: 通过直接分析推断	11504732	GOA
is active in nucleus	IDA IDA: 通过直接分析推断	27317422	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

TRNT1 蛋白结构

PolyA_pol

PolyA_pol_RNAbd

0
100
200
300
400
434 a.a.

蛋白主名

其他名称

CCA tRNA nucleotidyltransferase 1, mitochondrial

ATP(CTP):tRNA nucleotidyltransferase

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS15099	TRNT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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站点地图隐私声明

沪ICP备15051369号-4

上海工商

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沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

TRNT1 - tRNA nucleotidyl transferase 1 Gene

关于 TRNT1

功能概要

TRNT1 基因产物(5)

TRNT1 蛋白结构

关联疾病

直系同源

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TRNT1 - tRNA nucleotidyl transferase 1 Gene

关于 TRNT1

功能概要

TRNT1 基因产物(5)

TRNT1 蛋白结构

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

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