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    TBC1D12 TBC1 domain family member 12 [ Homo sapiens (human) ]

    Gene ID: 23232, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TBC1D12provided by HGNC
    Official Full Name
    TBC1 domain family member 12provided by HGNC
    Primary source
    HGNC:HGNC:29082
    See related
    Ensembl:ENSG00000108239 MIM:620003; AllianceGenome:HGNC:29082
    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. Predicted to be involved in regulation of autophagosome assembly. Predicted to be located in endosome. Predicted to be active in autophagosome and recycling endosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 6.6), testis (RPKM 5.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TBC1D12 in Genome Data Viewer
    Location:
    10q23.33
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (94402541..94536332)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (95281536..95415444)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (96162298..96296089)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene phospholipase C epsilon 1 Neighboring gene PLCE1 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:96117703-96118368 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:96118369-96119034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3788 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2633 Neighboring gene MPRA-validated peak1050 silencer Neighboring gene NOC3 like DNA replication regulator Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:96140095-96141294 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3789 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2635 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3790 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:96304601-96305225 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:96305226-96305850 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:96305851-96306474 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:96335135-96335636 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:96335637-96336136 Neighboring gene MPRA-validated peak1052 silencer Neighboring gene helicase, lymphoid specific Neighboring gene NANOG hESC enhancer GRCh37_chr10:96386128-96386629 Neighboring gene CTBP2 pseudogene 2

    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 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. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. Ishibashi K, et al. Genes Cells, 2009 Jan. PMID 19077034
    2. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. Nagase T, et al. DNA Res, 1998 Feb 28. PMID 9628581
    3. BioID reveals an ATG9A interaction with ATG13-ATG101 in the degradation of p62/SQSTM1-ubiquitin clusters. Kannangara AR, et al. EMBO Rep, 2021 Oct 5. PMID 34369648, Free PMC Article
    4. The DNA sequence and comparative analysis of human chromosome 10. Deloukas P, et al. Nature, 2004 May 27. PMID 15164054
    5. Reciprocal interaction between SIRT6 and APC/C regulates genomic stability. Wang H, et al. Sci Rep, 2021 Jul 9. PMID 34244565, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10339, FLJ12820, KIAA0608

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of autophagosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in autophagosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in recycling endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    TBC1 domain family member 12

    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_015188.2 → NP_056003.1  TBC1 domain family member 12

      See identical proteins and their annotated locations for NP_056003.1

      Status: VALIDATED

      Source sequence(s)
      AB011180, AL138759, DA808973
      Consensus CDS
      CCDS41553.1
      UniProtKB/Swiss-Prot
      O60347, Q5VYA6, Q8WX26, Q8WX59, Q9UG83
      UniProtKB/TrEMBL
      B9A6L3
      Related
      ENSP00000225235.4, ENST00000225235.5
      Conserved Domains (1) summary
      smart00164
      Location:481 → 712
      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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      94402541..94536332
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006717732.5 → XP_006717795.2  TBC1 domain family member 12 isoform X1

      UniProtKB/TrEMBL
      B9A6L3
      Conserved Domains (1) summary
      pfam00566
      Location:487 → 685
      RabGAP-TBC; Rab-GTPase-TBC domain

    2. XM_011539558.4 → XP_011537860.1  TBC1 domain family member 12 isoform X4

      Conserved Domains (1) summary
      smart00164
      Location:179 → 410
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    3. XM_047424905.1 → XP_047280861.1  TBC1 domain family member 12 isoform X2

    4. XM_047424906.1 → XP_047280862.1  TBC1 domain family member 12 isoform X3

    5. XM_017015999.3 → XP_016871488.1  TBC1 domain family member 12 isoform X5

      Conserved Domains (1) summary
      smart00164
      Location:58 → 289
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    6. XM_047424907.1 → XP_047280863.1  TBC1 domain family member 12 isoform X5

    7. XM_017015998.3 → XP_016871487.1  TBC1 domain family member 12 isoform X5

      Conserved Domains (1) summary
      smart00164
      Location:58 → 289
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    RNA

    1. XR_945637.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      95281536..95415444
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365343.1 → XP_054221318.1  TBC1 domain family member 12 isoform X4

    2. XM_054365340.1 → XP_054221315.1  TBC1 domain family member 12 isoform X1

    3. XM_054365341.1 → XP_054221316.1  TBC1 domain family member 12 isoform X2

    4. XM_054365342.1 → XP_054221317.1  TBC1 domain family member 12 isoform X3

    5. XM_054365346.1 → XP_054221321.1  TBC1 domain family member 12 isoform X5

    6. XM_054365345.1 → XP_054221320.1  TBC1 domain family member 12 isoform X5

    7. XM_054365344.1 → XP_054221319.1  TBC1 domain family member 12 isoform X5

    RNA

    1. XR_008488185.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60347.3 GenPept UniProtKB/Swiss-Prot:O60347

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