U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 55296, updated on 5-Aug-2022

Summary

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See TBC1D19 in Genome Data Viewer
Location:
4p15.2
Exon count:
35
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (26576677..26858919)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (26569161..26741365)
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 Sharpr-MPRA regulatory region 2944 Neighboring gene cholecystokinin A receptor Neighboring gene Sharpr-MPRA regulatory region 5841 Neighboring gene Sharpr-MPRA regulatory region 1278 Neighboring gene small nucleolar RNA SNORD74 Neighboring gene STIM2 antisense RNA 1 Neighboring gene PIMREG pseudogene 4 Neighboring gene stromal interaction molecule 2

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
involved_in regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
NOT involved_in regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
TBC1 domain family member 19

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001292054.2NP_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/Swiss-Prot
    Q8N5T2
    Related
    ENSP00000425569.1, ENST00000511789.5
    Conserved Domains (1) summary
    smart00164
    Location:183401
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  2. NM_018317.4NP_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
    Q8N5T2, Q9NUX1
    Related
    ENSP00000264866.4, ENST00000264866.9
    Conserved Domains (1) summary
    smart00164
    Location:248466
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_047415904.1XP_047271860.1  TBC1 domain family member 19 isoform X3

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

    Related
    ENSP00000427033.1, ENST00000512840.5
  3. XM_047415903.1XP_047271859.1  TBC1 domain family member 19 isoform X1

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

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

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

    Conserved Domains (1) summary
    cl02495
    Location:248325
    RabGAP-TBC; Rab-GTPase-TBC domain
  7. XM_017008364.2XP_016863853.1  TBC1 domain family member 19 isoform X7

  8. XM_047415906.1XP_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
    26569161..26741365
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)