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

Gene ID: 55296, updated on 3-Apr-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. Predicted to be involved in regulation of catalytic activity. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in kidney (RPKM 1.6), endometrium (RPKM 1.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
4p15.2
Exon count:
35
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (26576677..26858919)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (26561574..26844031)
105.20220307 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)

Genotypes

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_2023_10

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

Gene LinkOut

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