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    TBC1D3B TBC1 domain family member 3B [ Homo sapiens (human) ]

    Gene ID: 414059, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TBC1D3Bprovided by HGNC
    Official Full Name
    TBC1 domain family member 3Bprovided by HGNC
    Primary source
    HGNC:HGNC:27011
    See related
    Ensembl:ENSG00000274808 MIM:610144; AllianceGenome:HGNC:27011
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PRC17; TBC1D3I; TBC1D3L
    Summary
    This gene encodes a protein that is similar to TBC1 domain family, member 3. This protein contains a TBC (Tre-2, Bub2p, and Cdc16p) domain, which is found in proteins involved in RAB GTPase signaling and vesicle trafficking. There are multiple copies of this gene located within a cluster of chemokine genes on chromosome 17q. [provided by RefSeq, Apr 2009]
    Expression
    Broad expression in testis (RPKM 19.5), skin (RPKM 8.9) and 23 other tissues See more
    Orthologs
    all
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    Genomic context

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    See TBC1D3B in Genome Data Viewer
    Location:
    17q12
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (36165683..36176636, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (37113575..37124508, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (34493063..34503996, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927369 Neighboring gene golgi membrane protein 1 pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:34450775-34451357 Neighboring gene uncharacterized LOC107985055 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:34501670-34502170 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:34503901-34504401 Neighboring gene uncharacterized LOC128966684 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:34598171-34598682 Neighboring gene uncharacterized LOC128966706 Neighboring gene C-C motif chemokine ligand 3 like 3

    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. TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues located on chromosome 17q12. Hodzic D, et al. Genomics, 2006 Dec. PMID 16863688
    2. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Zody MC, et al. Nature, 2006 Apr 20. PMID 16625196, Free PMC Article
    3. The functional landscape of Hsp27 reveals new cellular processes such as DNA repair and alternative splicing and proposes novel anticancer targets. Katsogiannou M, et al. Mol Cell Proteomics, 2014 Dec. PMID 25277244, Free PMC Article
    4. Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer. Vichas A, et al. Nat Commun, 2021 Aug 9. PMID 34373451, Free PMC Article
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ78399

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    TBC1 domain family member 3B
    Names
    Rab GTPase-activating protein PRC17 duplicate
    TBC1 domain family member 3B/I
    TBC1 domain family, member 3-like
    TBC1 domain family, member 3I
    prostate cancer gene 17 duplicate

    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_001001417.7 → NP_001001417.6  TBC1 domain family member 3B

      See identical proteins and their annotated locations for NP_001001417.6

      Status: REVIEWED

      Source sequence(s)
      AC243829
      Consensus CDS
      CCDS42300.1
      UniProtKB/Swiss-Prot
      A6NDS4, A8K892
      UniProtKB/TrEMBL
      A0A0G2JLM6
      Related
      ENSP00000478473.1, ENST00000611257.5
      Conserved Domains (1) summary
      smart00164
      Location:99 → 312
      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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      36165683..36176636 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005257980.5 → XP_005258037.2  TBC1 domain family member 3B isoform X1

      UniProtKB/TrEMBL
      A0A0G2JLM6
      Conserved Domains (1) summary
      smart00164
      Location:160 → 373
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187614.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      400591..411524 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329301.1 → XP_054185276.1  TBC1 domain family member 3B isoform X2

    2. XM_054329300.1 → XP_054185275.1  TBC1 domain family member 3B isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187661.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      119786..130739 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330084.1 → XP_054186059.1  TBC1 domain family member 3B isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      37113575..37124508 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316148.1 → XP_054172123.1  TBC1 domain family member 3B isoform X4

    2. XM_054316147.1 → XP_054172122.1  TBC1 domain family member 3B isoform X1

    3. XM_054316149.1 → XP_054172124.1  TBC1 domain family member 3B isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NDS4.2 GenPept UniProtKB/Swiss-Prot:A6NDS4

    Gene LinkOut

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

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