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

    Gene ID: 79735, updated on 10-Dec-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, Dec 2024]
    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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    See TBC1D17 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49877702..49888750)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52877839..52888886)
    RS_2024_09 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 (35) 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)

    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 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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    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_2024_08

    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

      UniProtKB/TrEMBL
      M0R2L2

    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

      UniProtKB/TrEMBL
      M0R2L2

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

      UniProtKB/TrEMBL
      M0R2L2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HA65.3 GenPept UniProtKB/Swiss-Prot:Q9HA65

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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