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TBC1D17 TBC1 domain family member 17 [ Homo sapiens (human) ]

Gene ID: 79735, updated on 3-Apr-2024

Summary

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Official Symbol
TBC1D17provided by HGNC
Official Full Name
TBC1 domain family member 17provided by HGNC
Primary source
HGNC:HGNC:25699
See related
Ensembl:ENSG00000104946 MIM:616659; AllianceGenome:HGNC:25699
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
Summary
Predicted to enable GTPase activator activity. Involved in retrograde transport, endosome to Golgi. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in ovary (RPKM 16.1), fat (RPKM 14.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
19q13.33
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49877702..49888750)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52877839..52888886)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50380959..50392007)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene PTOV1 extended AT-hook containing adaptor protein Neighboring gene PTOV1 antisense RNA 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50368723-50369505 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50369506-50370288 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50370289-50371070 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50373269-50373916 Neighboring gene polynucleotide kinase 3'-phosphatase Neighboring gene AKT1 substrate 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50379233-50380192 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14965 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:50381153-50382112 Neighboring gene uncharacterized LOC124904743 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50393336-50394003 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50394004-50394672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50394673-50395339 Neighboring gene microRNA 4750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14966 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14967 Neighboring gene interleukin 4 induced 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14968 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50411173-50411894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10946 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14969 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50415677-50416528 Neighboring gene nucleoporin 62 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50424983-50425650 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50425735-50426488 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10947 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10948 Neighboring gene microRNA 4751 Neighboring gene activating transcription factor 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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 Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. AMPK-mediated phosphorylation enhances the auto-inhibition of TBC1D17 to promote Rab5-dependent glucose uptake. Rao XS, et al. Cell Death Differ, 2021 Dec. PMID 34045668, Free PMC Article
  2. Mitochondrial Rab GAPs govern autophagosome biogenesis during mitophagy. Yamano K, et al. Elife, 2014 Feb 25. PMID 24569479, Free PMC Article
  3. Characterization of the human homolog of the IL-4 induced gene-1 (Fig1). Chavan SS, et al. Biochim Biophys Acta, 2002 Jun 7. PMID 12031486
  4. Optineurin mediates a negative regulation of Rab8 by the GTPase-activating protein TBC1D17. Vaibhava V, et al. J Cell Sci, 2012 Nov 1. PMID 22854040
  5. Rab GTPase-activating proteins in autophagy: regulation of endocytic and autophagy pathways by direct binding to human ATG8 modifiers. Popovic D, et al. Mol Cell Biol, 2012 May. PMID 22354992, Free PMC Article

See all (32) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. AMPK-mediated phosphorylation enhances the auto-inhibition of TBC1D17 to promote Rab5-dependent glucose uptake.
    Title: AMPK-mediated phosphorylation enhances the auto-inhibition of TBC1D17 to promote Rab5-dependent glucose uptake.
  2. Demonstrate that TBC1D15 and TBC1D17 mediate proper autophagic encapsulation of mitochondria by regulating Rab7 activity at the interface between mitochondria and isolation membranes.
    Title: Mitochondrial Rab GAPs govern autophagosome biogenesis during mitophagy.
  3. Optineurin acts as an adaptor to bring together Rab8 and its GTPase-activating protein TBC1D17.
    Title: Optineurin mediates a negative regulation of Rab8 by the GTPase-activating protein TBC1D17.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ12168

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in autophagy IEA
Inferred from Electronic Annotation
more info
  
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
NOT involved_in regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in retrograde transport, endosome to Golgi IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in autophagosome IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in recycling endosome TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
TBC1 domain family member 17

NCBI Reference Sequences (RefSeq)

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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_001168222.2 → NP_001161694.1  TBC1 domain family member 17 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AI805386, AK300007, KC877742
    Consensus CDS
    CCDS54294.1
    UniProtKB/Swiss-Prot
    Q9HA65
    Related
    ENSP00000446323.1, ENST00000535102.6
    Conserved Domains (2) summary
    pfam12068
    Location:7 → 185
    DUF3548; Domain of unknown function (DUF3548)
    smart00164
    Location:274 → 509
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  2. NM_024682.3 → NP_078958.2  TBC1 domain family member 17 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AI927008, BC003516, KC877742
    Consensus CDS
    CCDS12785.1
    UniProtKB/Swiss-Prot
    B4DT12, B9A6L8, F5H1W7, Q9HA65
    Related
    ENSP00000221543.4, ENST00000221543.10
    Conserved Domains (2) summary
    pfam12068
    Location:5 → 218
    DUF3548; Domain of unknown function (DUF3548)
    smart00164
    Location:307 → 542
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    49877702..49888750
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047439444.1 → XP_047295400.1  TBC1 domain family member 17 isoform X1

  2. XM_011527317.4 → XP_011525619.1  TBC1 domain family member 17 isoform X2

    UniProtKB/TrEMBL
    M0R2L2
    Related
    ENSP00000472647.1, ENST00000599049.6
    Conserved Domains (2) summary
    pfam12068
    Location:5 → 218
    DUF3548; Domain of unknown function (DUF3548)
    smart00164
    Location:307 → 452
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    52877839..52888886
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054322172.1 → XP_054178147.1  TBC1 domain family member 17 isoform X1

  2. XM_054322173.1 → XP_054178148.1  TBC1 domain family member 17 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9HA65.3 GenPept UniProtKB/Swiss-Prot:Q9HA65

Gene LinkOut

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