TBC1D5 - TBC1 domain family member 5 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9779

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 Verweise 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 Verweise 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 Verweise 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

RabGAP-TBC: Rab-GTPase-TBC domain (86 - 380)

  • 0
  • 200
  • 400
  • 600
  • 795 a.a.
Protein Preferred Names Protein Names

TBC1 domain family member 5

TBC1D5 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
TBC1D5 Q92609 VPS35 Homo sapiens Q96QK1
Anti Tag CoIP
20923837
Intra
TBC1D5 Q92609 VPS35 Homo sapiens Q96QK1
Anti Tag CoIP
37172566
Intra
TBC1D5 Q92609 CHIA Homo sapiens Q9BZP6
Validated Y2H
32296183
Intra
TBC1D5 Q92609 AP2M1 Homo sapiens Q96CW1
Pull Down
24603492
Intra
TBC1D5 Q92609 VPS29 Homo sapiens Q9UBQ0
Anti Tag CoIP
20923837
Intra
TBC1D5 Q92609 VPS29 Homo sapiens Q9UBQ0
Anti Tag CoIP
37172566
Intra
TBC1D5 Q92609 VPS29 Homo sapiens Q9UBQ0
Anti Tag CoIP
24603492
Intra
TBC1D5 Q92609 GABARAPL2 Homo sapiens P60520
Y2H Array
31515488
Intra
TBC1D5 Q92609 GABARAPL2 Homo sapiens P60520
Y2H Pooling
16189514
Intra
TBC1D5 Q92609 GABARAPL1 Homo sapiens Q9H0R8
Validated Y2H
32296183
Cross
TBC1D5 Q92609 Vps29 Mus musculus Q9QZ88
Y2H
20923837
Intra
TBC1D5 Q92609 FBXL7 Homo sapiens Q9UJT9
Validated Y2H
32296183
Intra
TBC1D5 Q92609 ATXN1 Homo sapiens P54253
Y2H Array
16713569
Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS14245 TBC1D5 Human Pre-designed siRNA Set A Pre-designed Set / 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
Others TBC1D5 NCBI