TBC1D5 - TBC1 domain family member 5 Gene

Homo sapiens

Gene ID: 9779 | Gene type: protein coding

About TBC1D5

Cytogenetic location: 3p24.3 Genomic coordinates (GRCh38): 3:17,157,162-17,742,631 (from NCBI)

This gene has 31 transcripts (splice variants), 208 orthologues and 45 paralogues. Ubiquitous expression in thyroid (RPKM 11.6), brain (RPKM 10.8) and 25 other tissues.

Summary

Enables AP-2 adaptor complex binding activity and retromer complex binding activity. Involved in several processes, including macroautophagy; positive regulation of receptor internalization; and retrograde transport, endosome to Golgi. Located in Golgi apparatus; autophagosome; and endosome membrane. Part of retromer complex. Colocalizes with AP-2 adaptor complex and Atg1/ULK1 kinase complex. [provided by Alliance of Genome Resources, Apr 2022]

TBC1D5 Products(21)

mRNA	Protein	Name
NM_001134381.2	NP_001127853.1	TBC1 domain family member 5 isoform a
NM_001349073.2	NP_001336002.1	TBC1 domain family member 5 isoform a
NM_001349074.2	NP_001336003.1	TBC1 domain family member 5 isoform a
NM_001349075.2	NP_001336004.1	TBC1 domain family member 5 isoform a
NM_001349076.2	NP_001336005.1	TBC1 domain family member 5 isoform b
NM_001349077.2	NP_001336006.1	TBC1 domain family member 5 isoform b
NM_001349078.2	NP_001336007.1	TBC1 domain family member 5 isoform b
NM_001349079.2	NP_001336008.1	TBC1 domain family member 5 isoform b
NM_001349080.2	NP_001336009.1	TBC1 domain family member 5 isoform b
NM_001349081.2	NP_001336010.1	TBC1 domain family member 5 isoform c
NM_001349082.2	NP_001336011.1	TBC1 domain family member 5 isoform d
NM_001349083.2	NP_001336012.1	TBC1 domain family member 5 isoform d
NM_001349084.2	NP_001336013.1	TBC1 domain family member 5 isoform d
NM_001349085.2	NP_001336014.1	TBC1 domain family member 5 isoform d
NM_001349086.2	NP_001336015.1	TBC1 domain family member 5 isoform d
NM_001349087.2	NP_001336016.1	TBC1 domain family member 5 isoform e
NM_001349088.2	NP_001336017.1	TBC1 domain family member 5 isoform e
NM_001349089.2	NP_001336018.1	TBC1 domain family member 5 isoform e
NM_001349090.2	NP_001336019.1	TBC1 domain family member 5 isoform e
NM_001349091.2	NP_001336020.1	TBC1 domain family member 5 isoform e
NM_014744.2	NP_055559.1	TBC1 domain family member 5 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables AP-2 adaptor complex binding	IDA IDA: Inferred from direct assay	24603492	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables protein-containing complex binding	IDA IDA: Inferred from direct assay	19531583	GOA
enables retromer complex binding	IMP IMP: Inferred from mutant phenotype	27385586	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in autophagy	IDA IDA: Inferred from direct assay	22354992	GOA
involved in macroautophagy	IMP IMP: Inferred from mutant phenotype	24603492	GOA
involved in positive regulation of receptor internalization	IMP IMP: Inferred from mutant phenotype	22354992	GOA
NOT involved in regulation of cilium assembly	IMP IMP: Inferred from mutant phenotype	17646400	GOA
involved in response to starvation	IDA IDA: Inferred from direct assay	22354992	GOA
involved in retrograde transport, endosome to Golgi	IMP IMP: Inferred from mutant phenotype	22354992	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of AP-2 adaptor complex	IDA IDA: Inferred from direct assay	24603492	GOA
part of Atg1/ULK1 kinase complex	IDA IDA: Inferred from direct assay	24603492	GOA
located in autophagosome	IDA IDA: Inferred from direct assay	22354992	GOA
located in endosome membrane	IDA IDA: Inferred from direct assay	20923837	GOA
part of retromer complex	IDA IDA: Inferred from direct assay	20923837	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

TBC1D5 Protein Structure

RabGAP-TBC

0
200
400
600
795 a.a.

Protein Preferred Names

Protein Names

TBC1 domain family member 5

Related Diseases

Diseases

Alias

Warburg Micro Syndrome 4

WARBM4

Micro Syndrome 4

Legionnaire Disease

Legionnaires' Disease	Legionnaires Disease
Legionnaire Disease, Susceptibility To	Legionella
Legionella Pneumonia	Infection By Legionella Pneumophilia
Legionnaire'S Disease	Legionellosis
Legionaire Disease, Susceptibility To	Legionnaires Pneumonia

Legionellosis

Legionella Infection	Pontiac Fever
Legionnaires' Disease	Infection By Legionella Pneumophilia
Legionella Pneumophila Infection

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

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-RS14245	TBC1D5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	TBC1D5	MGD	MGI:1919488
Macaca mulatta	TBC1D5	VGNC	VGNC:81594
Felis catus	TBC1D5	VGNC	VGNC:97654
Bos taurus	TBC1D5	VGNC	VGNC:53608
Canis familiaris	TBC1D5	VGNC	VGNC:47150
Rattus norvegicus	TBC1D5	RGD	RGD:1561626

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