TBC1D20 - TBC1 domain family member 20 Gene

Homo sapiens

Also known as WARBM4; C20orf140

Gene ID: 128637 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14235	TBC1D20 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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