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    TBC1D19 TBC1 domain family member 19 [ Homo sapiens (human) ]

    Gene ID: 55296, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TBC1D19provided by HGNC
    Official Full Name
    TBC1 domain family member 19provided by HGNC
    Primary source
    HGNC:HGNC:25624
    See related
    Ensembl:ENSG00000109680 AllianceGenome:HGNC:25624
    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. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 1.6), endometrium (RPKM 1.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TBC1D19 in Genome Data Viewer
    Location:
    4p15.2
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (26576677..26858919)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (26561574..26844031)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (26585706..26757845)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene recombination signal binding protein for immunoglobulin kappa J region Neighboring gene uncharacterized LOC105374542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21393 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15334 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:26301633-26302396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21395 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15335 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15337 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:26323092-26324013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15336 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21396 Neighboring gene Sharpr-MPRA regulatory region 12863 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:26353747-26354248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:26354249-26354748 Neighboring gene Sharpr-MPRA regulatory region 2944 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21397 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:26407341-26408540 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:26454493-26455031 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:26569763-26570962 Neighboring gene cholecystokinin A receptor Neighboring gene Sharpr-MPRA regulatory region 5841 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21398 Neighboring gene Sharpr-MPRA regulatory region 1278 Neighboring gene small nucleolar RNA SNORD74 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21399 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21400 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15338 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15339 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21401 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15340 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15341 Neighboring gene STIM2 antisense RNA 1 Neighboring gene PIMREG pseudogene 4 Neighboring gene stromal interaction molecule 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
    • 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. 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
    2. 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
    3. Identification of the human testis protein phosphatase 1 interactome. Fardilha M, et al. Biochem Pharmacol, 2011 Nov 15. PMID 21382349
    4. Functional dissection of Rab GTPases involved in primary cilium formation. Yoshimura S, et al. J Cell Biol, 2007 Jul 30. PMID 17646400, Free PMC Article
    5. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. Rush J, et al. Nat Biotechnol, 2005 Jan. PMID 15592455

    See all (20) 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

    • FLJ11082

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    NOT involved_in regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    TBC1 domain family member 19

    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_001292054.2 → NP_001278983.1  TBC1 domain family member 19 isoform 2

      See identical proteins and their annotated locations for NP_001278983.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks three consecutive exons in the 5' coding region, compared to variant 1. It encodes isoform 2, which lacks an internal in-frame segment and is shorter than isoform 1.
      Source sequence(s)
      AC093807, AC107390
      Consensus CDS
      CCDS75115.1
      UniProtKB/TrEMBL
      A8K0R6
      Related
      ENSP00000425569.1, ENST00000511789.5
      Conserved Domains (1) summary
      smart00164
      Location:183 → 401
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    2. NM_018317.4 → NP_060787.2  TBC1 domain family member 19 isoform 1

      See identical proteins and their annotated locations for NP_060787.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC093807, AC107390
      Consensus CDS
      CCDS3439.1
      UniProtKB/Swiss-Prot
      B9A6M0, Q8N5T2, Q9NUX1
      UniProtKB/TrEMBL
      A8K0R6
      Related
      ENSP00000264866.4, ENST00000264866.9
      Conserved Domains (1) summary
      smart00164
      Location:248 → 466
      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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      26576677..26858919
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047415904.1 → XP_047271860.1  TBC1 domain family member 19 isoform X3

    2. XM_047415907.1 → XP_047271863.1  TBC1 domain family member 19 isoform X8

      Related
      ENSP00000427033.1, ENST00000512840.5

    3. XM_047415903.1 → XP_047271859.1  TBC1 domain family member 19 isoform X1

    4. XM_047415905.1 → XP_047271861.1  TBC1 domain family member 19 isoform X4

    5. XM_017008363.2 → XP_016863852.1  TBC1 domain family member 19 isoform X2

      UniProtKB/TrEMBL
      A8K0R6

    6. XM_011513852.3 → XP_011512154.1  TBC1 domain family member 19 isoform X5

      Conserved Domains (1) summary
      cl02495
      Location:248 → 325
      RabGAP-TBC; Rab-GTPase-TBC domain

    7. XM_017008364.2 → XP_016863853.1  TBC1 domain family member 19 isoform X7

    8. XM_047415906.1 → XP_047271862.1  TBC1 domain family member 19 isoform X6

    RNA

    1. XR_007057937.1 RNA Sequence

    2. XR_001741277.2 RNA Sequence

    3. XR_007057936.1 RNA Sequence

    4. XR_925333.3 RNA Sequence

    5. XR_007057938.1 RNA Sequence

    6. XR_007057939.1 RNA Sequence

    7. XR_007057940.1 RNA Sequence

    8. XR_001741278.1 RNA Sequence

    9. XR_001741279.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      26561574..26844031
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350406.1 → XP_054206381.1  TBC1 domain family member 19 isoform X3

    2. XM_054350411.1 → XP_054206386.1  TBC1 domain family member 19 isoform X8

    3. XM_054350404.1 → XP_054206379.1  TBC1 domain family member 19 isoform X1

    4. XM_054350407.1 → XP_054206382.1  TBC1 domain family member 19 isoform X4

    5. XM_054350405.1 → XP_054206380.1  TBC1 domain family member 19 isoform X2

    6. XM_054350408.1 → XP_054206383.1  TBC1 domain family member 19 isoform X5

    7. XM_054350410.1 → XP_054206385.1  TBC1 domain family member 19 isoform X7

    8. XM_054350409.1 → XP_054206384.1  TBC1 domain family member 19 isoform X6

    RNA

    1. XR_008487008.1 RNA Sequence

    2. XR_008487006.1 RNA Sequence

    3. XR_008487007.1 RNA Sequence

    4. XR_008487005.1 RNA Sequence

    5. XR_008487009.1 RNA Sequence

    6. XR_008487010.1 RNA Sequence

    7. XR_008487011.1 RNA Sequence

    8. XR_008487012.1 RNA Sequence

    9. XR_008487013.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N5T2.2 GenPept UniProtKB/Swiss-Prot:Q8N5T2

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