TBC1D20 - TBC1 domain family member 20 Gene

Also Known as WARBM4; C20orf140

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 128637

About TBC1D20

Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:435,480-462,533 (from NCBI)

This gene has 31 transcripts (splice variants), 207 orthologues and is associated with 3 phenotypes. Ubiquitous expression in lung (RPKM 14.1), thyroid (RPKM 13.3) and 25 other tissues.

Summary

This gene encodes a protein that belongs to a family of GTPase activator proteins of Rab-like small GTPases. The encoded protein and its cognate GTPase, Rab1, bind the nonstructural protein 5A (NS5A) of the hepatitis C virus (HCV) to mediate viral replication. Depletion of this protein inhibits replication of the virus and HCV Infection. Mutations in this gene are associated with Warburg micro syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

TBC1D20 Products (1)

mRNA	Protein	Name
NM_144628.4	NP_653229.1	TBC1 domain family member 20

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables GTPase activator activity	IDA IDA: Inferred from direct assay	17684057	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17684057	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	17684057	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in COPII-coated vesicle cargo loading	IMP IMP: Inferred from mutant phenotype	17684057	GOA
involved in Golgi organization	IMP IMP: Inferred from mutant phenotype	17684057	GOA
involved in endoplasmic reticulum to Golgi vesicle-mediated transport	IMP IMP: Inferred from mutant phenotype	21680502	GOA
involved in positive regulation by host of viral genome replication	IMP IMP: Inferred from mutant phenotype	17686842	GOA
involved in positive regulation by virus of viral protein levels in host cell	IMP IMP: Inferred from mutant phenotype	17686842	GOA
involved in positive regulation of ER to Golgi vesicle-mediated transport	IMP IMP: Inferred from mutant phenotype	17684057	GOA
involved in positive regulation of GTPase activity	IMP IMP: Inferred from mutant phenotype	17684057	GOA
NOT involved in regulation of cilium assembly	IMP IMP: Inferred from mutant phenotype	17646400	GOA
involved in virion assembly	IMP IMP: Inferred from mutant phenotype	21680502	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi membrane	IDA IDA: Inferred from direct assay	17684057	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	22491470	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	17684057	GOA
located in nuclear membrane	IDA IDA: Inferred from direct assay	17684057	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

TBC1D20 Protein Structure

RabGAP-TBC

0
100
200
300
403 a.a.

Protein Preferred Names	Protein Names
TBC1 domain family member 20

TBC1D20 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TBC1D20	Q96BZ9	AQP6	Homo sapiens	Q13520	Y2H Array	32296183
Intra	TBC1D20	Q96BZ9	AQP6	Homo sapiens	Q13520	Y2H Prey Pooling	32296183
Intra	TBC1D20	Q96BZ9	APOC4	Homo sapiens	P55056	Y2H Prey Pooling	32296183
Intra	TBC1D20	Q96BZ9	EBP	Homo sapiens	Q15125	Y2H Prey Pooling	32296183
Intra	TBC1D20	Q96BZ9	EBP	Homo sapiens	Q15125	Y2H Array	32296183
Intra	TBC1D20	Q96BZ9	TMEM14B	Homo sapiens	Q9NUH8	Y2H Prey Pooling	32296183
Intra	TBC1D20	Q96BZ9	TMEM14B	Homo sapiens	Q9NUH8	Validated Y2H	32296183
Intra	TBC1D20	Q96BZ9	TMEM14B	Homo sapiens	Q9NUH8	Y2H Array	32296183
Cross	TBC1D20	Q96BZ9	P27958-PRO_0000037576	Hepatitis C virus	P27958-PRO_0000037576	Y2H	17686842
Cross	TBC1D20	Q96BZ9	P27958-PRO_0000037576	Hepatitis C virus	P27958-PRO_0000037576	Confocal	22491470
Cross	TBC1D20	Q96BZ9	P27958-PRO_0000037576	Hepatitis C virus	P27958-PRO_0000037576	IF	22491470
Cross	TBC1D20	Q96BZ9	P27958-PRO_0000037576	Hepatitis C virus	P27958-PRO_0000037576	Confocal	17686842
Cross	TBC1D20	Q96BZ9	P27958-PRO_0000037576	Hepatitis C virus	P27958-PRO_0000037576	Crosslink	17686842

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Warburg Micro Syndrome 4	WARBM4 Micro Syndrome 4
Warburg Micro Syndrome 1	Warburg Micro Syndrome Micro Syndrome Warbm WARBM1 Warburg Sjo Fledelius Syndrome Warburg-Sjo-Fledelius Syndrome Micro Syndrome 1 Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism
Hepatitis C Virus	Hepatitis C Virus, Susceptibility To Hepatitis C Virus Infection, Response To Therapy Of Hcv Hcv, Susceptibility To Hepatitis C Virus, Resistance To Hepatitis C Virus, Response To Therapy Of Resistance To Hepatitis C Virus
Warburg Micro Syndrome 2	WARBM2 Micro Syndrome 2
Warburg Micro Syndrome 3	WARBM3 Micro Syndrome 3
Martsolf Syndrome 1	Martsolf Syndrome Cataract-Intellectual Disability-Hypogonadism Syndrome MARTS1 Marts Cataract-Mental Retardation-Hypogonadism Martsolf
Spastic Diplegia	Diplegic Infantile Cerebral Palsy Little'S Disease Cerebral Palsy Cerebral Spastic Infantile Paralysis Infantile Diplegic Cerebral Palsy Infantile Spastic Cerebral Palsy Littles Disease Spastic Cerebral Palsy
Rab18 Deficiency
Microphthalmia	Microphthalmos Isolated Anophthalmia-Microphthalmia Syndrome Isolated Microphthalmia-Anophthalmia-Coloboma Simple Microphthalmos Clinical Anophthalmia Isolated Anophthalmia - Microphthalmia Isolated Pure Microphthalmia Mac Spectrum Microphthalmia-Anophthalmia-Coloboma Spectrum Primitive Anophthalmia Globe Of Eye Small Small Eyeball Hypoplasia Of Eye Isolated Nanophthalmos Rudimentary Eye Dysplasia Of Eye
Spastic Cerebral Palsy	Palsy, Cerebral, Spastic Infantile Hemiplegia Nos Postnatal Infantile Hemiplegia Nos Congenital Spastic Hemiplegia Spastic Hemiplegic Cerebral Palsy Congenital Hemiplegia Nos Hemiplegic Cerebral Palsy Hemiplegic Infantile Cerebral Palsy
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome	Door Syndrome Doors Syndrome Digitorenocerebral Syndrome Autosomal Recessive Deafness-Onychodystrophy Syndrome Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome DOORS Drc Syndrome Eronen Syndrome Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome Brachydactyly Due To Absence Of Distal Phalanges Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome Autosomal Recessive Hearing Loss-Onychodystrophy Syndrome Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome Hearing Loss-Onychoosteodystrophy-Intellectual Disability Syndrome Deafness, Onychodystrophy, Osteodystrophy, Intellectual Disability, And Seizures Syndrome Deafness, Congenital Onychodystrophy, Recessive Form Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome
Spastic Quadriplegia	Spastic Quadriplegic Cerebral Palsy Quadriplegic Infantile Cerebral Palsy Tetraplegic Infantile Cerebral Palsy Cerebral Palsy Spastic Quadriplegic Quadriplegic Cerebral Palsy Spastic Quadriplegia Cerebral Palsy Spastic Tetraplegia Cerebral Palsy Cerebral Palsy, Quadriplegic, Infantile Cerebral Palsy With Spastic Tetraplegia Congenital Spastic Quadriplegia Spastic Tetraplegic Cerebral Palsy Congenital Quadriplegia Nos Tetraplegic Cerebral Palsy
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Lens Disease	Lens Diseases
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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-RS14235	TBC1D20 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	TBC1D20	RGD	RGD:1303293
Mus musculus	TBC1D20	MGD	MGI:1914481
Felis catus	TBC1D20	VGNC	VGNC:65979
Canis familiaris	TBC1D20	VGNC	VGNC:47139
Macaca mulatta	TBC1D20	VGNC	VGNC:78132
Bos taurus	TBC1D20	VGNC	VGNC:35634
Others	TBC1D20	NCBI