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TBCK - TBC1 domain containing kinase Gene

Also Known as TBCKL; IHPRF3; HSPC302

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 93627

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	26496610	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in actin cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	23977024	GOA
involved in cell population proliferation	IMP IMP: Inferred from mutant phenotype	23977024	GOA
involved in regulation of TOR signaling	IMP IMP: Inferred from mutant phenotype	23977024	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	24576458	GOA
located in midbody	IDA IDA: Inferred from direct assay	24576458	GOA
located in mitotic spindle	IDA IDA: Inferred from direct assay	24576458	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

TBCK Protein Structure

Pkinase

RabGAP-TBC

Rhodanese

0
200
400
600
800
893 a.a.

Protein Preferred Names	Protein Names
TBC domain-containing protein kinase-like protein

Related Diseases

Diseases	Alias
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

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

Orthologs Information

Species	Symbol	Source	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