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TBC1D5 TBC1 domain family member 5 [ Homo sapiens (human) ]

Gene ID: 9779, updated on 30-Sep-2018

Summary

Official Symbol
TBC1D5provided by HGNC
Official Full Name
TBC1 domain family member 5provided by HGNC
Primary source
HGNC:HGNC:19166
See related
Ensembl:ENSG00000131374 MIM:615740; Vega:OTTHUMG00000155488
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Ubiquitous expression in thyroid (RPKM 11.6), brain (RPKM 10.8) and 25 other tissues See more
Orthologs

Genomic context

See TBC1D5 in Genome Data Viewer
Location:
3p24.3
Exon count:
36
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (17157162..17742739, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (17198654..17784240, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376972 Neighboring gene phospholipase C like 2 Neighboring gene microRNA 3714 Neighboring gene ribosomal protein L31 pseudogene 19 Neighboring gene transfer RNA-Cys (GCA) 25-1 Neighboring gene RNA, U7 small nuclear 10 pseudogene Neighboring gene uncharacterized LOC105376975 Neighboring gene pyrophosphatase (inorganic) 1 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2015-10-30)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2015-10-30)

ClinGen Genome Curation Page

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0210

Gene Ontology Provided by GOA

Function Evidence Code Pubs
AP-2 adaptor complex binding IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Rab GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
retromer complex binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
autophagy IDA
Inferred from Direct Assay
more info
PubMed 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
macroautophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of receptor internalization IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to starvation IDA
Inferred from Direct Assay
more info
PubMed 
retrograde transport, endosome to Golgi IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with AP-2 adaptor complex IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with Atg1/ULK1 kinase complex IDA
Inferred from Direct Assay
more info
PubMed 
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
autophagosome IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
retromer complex IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with retromer complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
TBC1 domain family member 5

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001134381.1NP_001127853.1  TBC1 domain family member 5 isoform a

    See identical proteins and their annotated locations for NP_001127853.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1, 3, 4, and 5 all encode the same isoform (a).
    Source sequence(s)
    AC090644, AK310539, BM976960
    Consensus CDS
    CCDS46770.1
    UniProtKB/Swiss-Prot
    Q92609
    Related
    ENSP00000402935.2, OTTHUMP00000208068, ENST00000446818.6, OTTHUMT00000340304
    Conserved Domains (1) summary
    smart00164
    Location:79381
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  2. NM_001349073.1NP_001336002.1  TBC1 domain family member 5 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3), as well as variants 1, 4, and 5, encodes isoform a.
    Source sequence(s)
    AC090644, AC090960, AC104451, AC144531
    Consensus CDS
    CCDS46770.1
    Conserved Domains (1) summary
    smart00164
    Location:79381
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  3. NM_001349074.1NP_001336003.1  TBC1 domain family member 5 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4), as well as variants 1, 3, and 5, encodes isoform a.
    Source sequence(s)
    AC090644, AC090960, AC104451, AC144531
    Consensus CDS
    CCDS46770.1
    Conserved Domains (1) summary
    smart00164
    Location:79381
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  4. NM_001349075.1NP_001336004.1  TBC1 domain family member 5 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5), as well as variants 1, 3, and 4, encodes isoform a.
    Source sequence(s)
    AC090644, AC090960, AC104451, AC144531
    Consensus CDS
    CCDS46770.1
    Conserved Domains (1) summary
    smart00164
    Location:79381
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  5. NM_001349076.1NP_001336005.1  TBC1 domain family member 5 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6), as well as variants 2, 7, 8, 9, and 10, encodes isoform b.
    Source sequence(s)
    AC090644, AC090960, AC104451, AC144531
    Consensus CDS
    CCDS33714.1
    Conserved Domains (1) summary
    smart00164
    Location:79381
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  6. NM_001349077.1NP_001336006.1  TBC1 domain family member 5 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7), as well as variants 2, 6, 8, 9, and 10, encodes isoform b.
    Source sequence(s)
    AC090644, AC090960, AC104451, AC144531
    Consensus CDS
    CCDS33714.1
    Related
    ENSP00000398127.4, ENST00000429383.8
    Conserved Domains (1) summary
    smart00164
    Location:79381
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  7. NM_001349078.1NP_001336007.1  TBC1 domain family member 5 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8), as well as variants 2, 6, 7, 9, and 10, encodes isoform b.
    Source sequence(s)
    AC090644, AC090960, AC104451, AC144531
    Consensus CDS
    CCDS33714.1
    Conserved Domains (1) summary
    smart00164
    Location:79381
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  8. NM_001349079.1NP_001336008.1  TBC1 domain family member 5 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9), as well as variants 2, 6, 7, 8, and 10, encodes isoform b.
    Source sequence(s)
    AC090644, AC090960, AC104451, AC144531
    Consensus CDS
    CCDS33714.1
    Conserved Domains (1) summary
    smart00164
    Location:79381
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  9. NM_001349080.1NP_001336009.1  TBC1 domain family member 5 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (10), as well as variants 2, 6, 7, 8, and 9, encodes isoform b.
    Source sequence(s)
    AC090644, AC090960, AC104451, AC144531
    Consensus CDS
    CCDS33714.1
    Conserved Domains (1) summary
    smart00164
    Location:79381
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  10. NM_001349081.1NP_001336010.1  TBC1 domain family member 5 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (11) encodes isoform c.
    Source sequence(s)
    AC090644, AC090960, AC104451, AC140076, AC144531
    Conserved Domains (1) summary
    smart00164
    Location:86388
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  11. NM_001349082.1NP_001336011.1  TBC1 domain family member 5 isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (12), as well as variants 13, 14, 15, and 16, encodes isoform d.
    Source sequence(s)
    AC090644, AC090960, AC104451, AC144531
    Conserved Domains (1) summary
    smart00164
    Location:19245
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  12. NM_001349083.1NP_001336012.1  TBC1 domain family member 5 isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (13), as well as variants 12, 14, 15, and 16, encodes isoform d.
    Source sequence(s)
    AC090644, AC090960, AC104451, AC144531
    Conserved Domains (1) summary
    smart00164
    Location:19245
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  13. NM_001349084.1NP_001336013.1  TBC1 domain family member 5 isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (14), as well as variants 12, 13, 15, and 16, encodes isoform d.
    Source sequence(s)
    AC090644, AC090960, AC104451, AC144531
    Conserved Domains (1) summary
    smart00164
    Location:19245
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  14. NM_001349085.1NP_001336014.1  TBC1 domain family member 5 isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (15), as well as variants 12, 13, 14, and 16, encodes isoform d.
    Source sequence(s)
    AC090644, AC090960, AC104451, AC140076, AC144531
    Conserved Domains (1) summary
    smart00164
    Location:19245
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  15. NM_001349086.1NP_001336015.1  TBC1 domain family member 5 isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (16), as well as variants 12, 13, 14, and 15, encodes isoform d.
    Source sequence(s)
    AC090644, AC090960, AC104451, AC144531
    Conserved Domains (1) summary
    smart00164
    Location:19245
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  16. NM_001349087.1NP_001336016.1  TBC1 domain family member 5 isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (17), as well as variants 18, 19, 20, and 21, encodes isoform e.
    Source sequence(s)
    AC090644, AC090960, AC104451, AC144531
    Conserved Domains (1) summary
    smart00164
    Location:19245
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  17. NM_001349088.1NP_001336017.1  TBC1 domain family member 5 isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (18), as well as variants 17, 19, 20, and 21, encodes isoform e.
    Source sequence(s)
    AC090644, AC090960, AC104451, AC144531
    Conserved Domains (1) summary
    smart00164
    Location:19245
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  18. NM_001349089.1NP_001336018.1  TBC1 domain family member 5 isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (19), as well as variants 17, 18, 20, and 21, encodes isoform e.
    Source sequence(s)
    AC090644, AC090960, AC104451, AC144531
    Conserved Domains (1) summary
    smart00164
    Location:19245
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  19. NM_001349090.1NP_001336019.1  TBC1 domain family member 5 isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (20), as well as variants 17, 18, 19, and 21, encodes isoform e.
    Source sequence(s)
    AC090644, AC090960, AC104451, AC144531
    Conserved Domains (1) summary
    smart00164
    Location:19245
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  20. NM_001349091.1NP_001336020.1  TBC1 domain family member 5 isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (21), as well as variants 17, 18, 19, and 20, encodes isoform e.
    Source sequence(s)
    AC090644, AC090960, AC104451, AC144531
    Conserved Domains (1) summary
    smart00164
    Location:19245
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  21. NM_014744.2NP_055559.1  TBC1 domain family member 5 isoform b

    See identical proteins and their annotated locations for NP_055559.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2, 6, 7, 8, 9, and 10 all encode the same isoform (b).
    Source sequence(s)
    AC090644, AC104451, BM976960, D86965
    Consensus CDS
    CCDS33714.1
    UniProtKB/Swiss-Prot
    Q92609
    UniProtKB/TrEMBL
    B9A6K1
    Related
    ENSP00000253692.6, OTTHUMP00000208065, ENST00000253692.11, OTTHUMT00000340301
    Conserved Domains (1) summary
    smart00164
    Location:79381
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    17157162..17742739 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007554.1XP_016863043.1  TBC1 domain family member 5 isoform X1

    UniProtKB/Swiss-Prot
    Q92609
    Conserved Domains (1) summary
    smart00164
    Location:79381
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  2. XM_017007556.1XP_016863045.1  TBC1 domain family member 5 isoform X1

    UniProtKB/Swiss-Prot
    Q92609
    Conserved Domains (1) summary
    smart00164
    Location:79381
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  3. XM_011534284.2XP_011532586.1  TBC1 domain family member 5 isoform X1

    See identical proteins and their annotated locations for XP_011532586.1

    UniProtKB/Swiss-Prot
    Q92609
    Conserved Domains (1) summary
    smart00164
    Location:79381
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  4. XM_024453840.1XP_024309608.1  TBC1 domain family member 5 isoform X3

  5. XM_011534283.3XP_011532585.1  TBC1 domain family member 5 isoform X1

    See identical proteins and their annotated locations for XP_011532585.1

    UniProtKB/Swiss-Prot
    Q92609
    Conserved Domains (1) summary
    smart00164
    Location:79381
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  6. XM_017007555.2XP_016863044.1  TBC1 domain family member 5 isoform X1

    UniProtKB/Swiss-Prot
    Q92609
    Conserved Domains (1) summary
    smart00164
    Location:79381
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  7. XM_017007552.2XP_016863041.1  TBC1 domain family member 5 isoform X1

    UniProtKB/Swiss-Prot
    Q92609
    Conserved Domains (1) summary
    smart00164
    Location:79381
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  8. XM_017007553.2XP_016863042.1  TBC1 domain family member 5 isoform X1

    UniProtKB/Swiss-Prot
    Q92609
    Conserved Domains (1) summary
    smart00164
    Location:79381
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  9. XM_024453839.1XP_024309607.1  TBC1 domain family member 5 isoform X1

    Conserved Domains (1) summary
    smart00164
    Location:79381
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  10. XM_011534281.1XP_011532583.1  TBC1 domain family member 5 isoform X1

    See identical proteins and their annotated locations for XP_011532583.1

    UniProtKB/Swiss-Prot
    Q92609
    Conserved Domains (1) summary
    smart00164
    Location:79381
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  11. XM_017007557.1XP_016863046.1  TBC1 domain family member 5 isoform X2

    UniProtKB/Swiss-Prot
    Q92609
    UniProtKB/TrEMBL
    B9A6K1
    Conserved Domains (1) summary
    smart00164
    Location:79381
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  12. XM_017007568.1XP_016863057.1  TBC1 domain family member 5 isoform X4

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001134380.1: Suppressed sequence

    Description
    NM_001134380.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
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