TBCK - TBC1 domain containing kinase Gene

中文名称：含 TBC1 结构域的激酶

种属: Homo sapiens

同用名: TBCKL; IHPRF3; HSPC302

基因 ID: 93627 | 基因类型: protein coding

关于 TBCK

Cytogenetic location: 4q24 Genomic coordinates (GRCh38): 4:106,041,599-106,316,683 (from NCBI)

This gene has 19 transcripts (splice variants), 202 orthologues, 45 paralogues and is associated with 3 phenotypes. Ubiquitous expression in ovary (RPKM 5.5), thyroid (RPKM 5.1) and 25 other tissues.

功能概要

该基因编码的蛋白质包含蛋白激酶结构域、类硫氰酸酶结构域和 Tre-2/Bub2/Cdc16 (TBC) 结构域。编码的蛋白质被认为通过调节雷帕霉素 (mTOR) 信号通路的哺乳动物靶标在肌动蛋白组织、细胞生长和细胞增殖中发挥作用。这种蛋白质也可能参与 mTOR 复合体成分的转录调节。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 3 月]

This gene encodes a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. The encoded protein is thought to play a role in actin organization, cell growth and cell proliferation by regulating the mammalian target of the rapamycin (mTOR) signaling pathway. This protein may also be involved in the transcriptional regulation of the components of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

TBCK 基因产物(5)

mRNA	Protein	Name
NM_001163435.3	NP_001156907.2	TBC domain-containing protein kinase-like protein isoform a
NM_001163436.4	NP_001156908.2	TBC domain-containing protein kinase-like protein isoform a
NM_001163437.3	NP_001156909.2	TBC domain-containing protein kinase-like protein isoform b
NM_001290768.2	NP_001277697.2	TBC domain-containing protein kinase-like protein isoform d
NM_033115.5	NP_149106.3	TBC domain-containing protein kinase-like protein isoform c

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 protein binding	IPI IPI: 通过物理相互作用推断	26496610	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in actin cytoskeleton organization	IMP IMP: 通过突变表型推断	23977024	GOA
involved in cell population proliferation	IMP IMP: 通过突变表型推断	23977024	GOA
involved in regulation of TOR signaling	IMP IMP: 通过突变表型推断	23977024	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	24576458	GOA
located in midbody	IDA IDA: 通过直接分析推断	24576458	GOA
located in mitotic spindle	IDA IDA: 通过直接分析推断	24576458	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

TBCK 蛋白结构

Pkinase

RabGAP-TBC

Rhodanese

0
200
400
600
800
893 a.a.

蛋白主名

其他名称

TBC domain-containing protein kinase-like protein

关联疾病

疾病名称

别名

Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3

IHPRF3	Tbck-Related Intellectual Disability Syndrome
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies, Type 3

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Hypotonia

Hypotonia, Infantile, With Psychomotor Retardation

IHPMR

Severe Hypotonia-Psychomotor Developmental Delay-Strabismus-Cardiac Septal Defect Syndrome

Intermittent Squint

Intermittent Heterotropia

Intermittent Tropia

Hermansky-Pudlak Syndrome 3

HPS3	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial
Delta Storage Pool Disease	Hermansky-Pudlak Syndrome, Type 3
Platelet Storage Pool Deficiency	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Renpenning Syndrome 1

Renpenning Syndrome	Golabi-Ito-Hall Syndrome
Mrxs3	Mrxs8
X-Linked Intellectual Disability Due To Pqbp1 Mutations	RENS1
Sutherland-Haan X-Linked Mental Retardation Syndrome	Shs
Mrx55	X-Linked Intellectual Disability, Renpenning Type
Sutherland-Haan Syndrome	Mental Retardation, X-Linked, Renpenning Type
Mental Retardation, X-Linked, With Spastic Diplegia	Mental Retardation, X-Linked, Syndromic 3
Mental Retardation, X-Linked, Syndromic 8	Mental Retardation, X-Linked 55
Syndromic X-Linked Mental Retardation 8	X-Linked Mental Retardation Renpenning Type
X-Linked Mental Retardation With Spastic Diplegia	Sutherland-Haan X-Linked Intellectual Disability Syndrome
X-Linked Intellectual Disability With Spastic Diplegia	Hamel Cerebropalatocardiac Syndrome
Porteous Syndrome	X-Linked Intellectual Deficit Due To Pqbp1 Mutations
X-Linked Intellectual Deficit, Renpenning Type	X-Linked Intellectual Disability, Sutherland-Haan Type
Hamel Cerebro-Palato-Cardiac Syndrome	Renpenning Syndrome, Type 1

Vici Syndrome

Absent Corpus Callosum Cataract Immunodeficiency	VICIS
Immunodeficiency With Cleft Lip/Palate, Cataract, Hypopigmentation, And Absent Corpus Callosum	Dionisi Vici Sabetta Gambarara Syndrome
Immunodeficiency With Cleft Lip/Palate, Cataract, Hypopigmentation And Absent Corpus Callosum	Corpus Callosum Agenesis-Cataract-Immunodeficiency Syndrome
Dionisi-Vici-Sabetta-Gambarara Syndrome	Immunodeficiency With Cleft Lip/Palate Cataract Hypopigmentation And Absent Corpus Callosum

Ceroid Lipofuscinosis, Neuronal, 11

Neuronal Ceroid Lipofuscinosis 11	CLN11
Cln11 Disease	Grn-Related Neuronal Ceroid-Lipofuscinosis
Lipofuscinosis, Ceroid, Neuronal, Type 11

Galloway-Mowat Syndrome

Galloway Mowat Syndrome	Galloway Syndrome
Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type	Microcephaly Nephrosis Syndrome
Microcephaly, Hiatal Hernia, And Nephrotic Syndrome	Nephrosis Neuronal Dysmigration Syndrome
Microcephaly-Hiatus Hernia-Nephrotic Syndrome	Nephrosis-Neuronal Dysmigration Syndrome

Alcohol-Related Neurodevelopmental Disorder

Static Encephalopathy	Arnd
Encephalopathy, Static	Alcohol Related Neurodevelopmental Disorder

Duodenal Atresia

Duodenal Stenosis

Familial Duodenal Atresia

Waardenburg Syndrome, Type 4a

Waardenburg-Shah Syndrome	Shah-Waardenburg Syndrome
Waardenburg Syndrome Type 4a	WS4A
Ws4	Waardenburg Syndrome Type 4
Waardenburg Syndrome Type Iva	Waardenburg Syndrome With Hirschsprung Disease Type 4a
Hirschsprung Disease With Pigmentary Anomaly	Waardenburg-Hirschsprung Syndrome
Waardenburg Syndrome, Type Iva	Waardenburg Syndrome With Hirschsprung Disease, Type 4a
Waardenburg-Hirschsprung Disease	Waardenburg Syndrome, Type 4
Waardenburg Syndrome 4a

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis	Batten Disease
Ncl	Neuronal Ceroid-Lipofuscinoses
Lipofuscinosis, Ceroid, Neuronal	Juvenile Neuronal Ceroid Lipofuscinosis
Cerebromacular Dystrophy	Cerebromacular Degeneration
Ceroid-Lipofuscinosis	Ncl - [Neuronal Ceroid Lipofuscinosis]
Amaurotic Familial Idiocy	Amaurotic Idiocy
Amaurotic Idiot	Neuronal Lipofuscinosis
Pigmentary Retinal Lipoid Neuronal Heredodegeneration

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-RS14256	TBCK Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	TBCK	VGNC	VGNC:35655
Macaca mulatta	TBCK	VGNC	VGNC:100276
Canis familiaris	TBCK	VGNC	VGNC:47159
Rattus norvegicus	TBCK	RGD	RGD:1307816
Felis catus	TBCK	VGNC	VGNC:65996
Mus musculus	TBCK	MGD	MGI:2445052
Others	TBCK	NCBI

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

TBCK - TBC1 domain containing kinase Gene

关于 TBCK

功能概要

TBCK 基因产物(5)

TBCK 蛋白结构

关联疾病

直系同源

热门区域

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TBCK - TBC1 domain containing kinase Gene

关于 TBCK

功能概要

TBCK 基因产物(5)

TBCK 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z