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

Gene ID: 79735, updated on 21-Dec-2019

Summary

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
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 ovary (RPKM 16.1), fat (RPKM 14.6) and 25 other tissues See more
Orthologs

Genomic context

See TBC1D17 in Genome Data Viewer
Location:
19q13.33
Exon count:
18
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (49877531..49888750)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50380682..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 polynucleotide kinase 3'-phosphatase Neighboring gene AKT1 substrate 1 Neighboring gene microRNA 4750 Neighboring gene interleukin 4 induced 1 Neighboring gene nucleoporin 62 Neighboring gene microRNA 4751 Neighboring gene activating transcription factor 5

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 Apr 4 07:08:55 2018

Bibliography

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12168

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
TBC1 domain family member 17

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_001168222.2NP_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:7185
    DUF3548; Domain of unknown function (DUF3548)
    smart00164
    Location:274509
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  2. NM_024682.3NP_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
    Q9HA65
    Related
    ENSP00000221543.4, ENST00000221543.10
    Conserved Domains (2) summary
    pfam12068
    Location:5218
    DUF3548; Domain of unknown function (DUF3548)
    smart00164
    Location:307542
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    49877531..49888750
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527317.3XP_011525619.1  TBC1 domain family member 17 isoform X1

    Related
    ENSP00000472647.1, ENST00000599049.6
    Conserved Domains (2) summary
    pfam12068
    Location:5218
    DUF3548; Domain of unknown function (DUF3548)
    smart00164
    Location:307452
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
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