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    TBC1D24 TBC1 domain family member 24 [ Homo sapiens (human) ]

    Gene ID: 57465, updated on 17-Jun-2019

    Summary

    Official Symbol
    TBC1D24provided by HGNC
    Official Full Name
    TBC1 domain family member 24provided by HGNC
    Primary source
    HGNC:HGNC:29203
    See related
    Ensembl:ENSG00000162065 MIM:613577
    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
    FIME; DOORS; TLDC6; DFNA65; DFNB86; EIEE16
    Summary
    This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]
    Expression
    Ubiquitous expression in brain (RPKM 4.4), kidney (RPKM 3.5) and 25 other tissues See more
    Orthologs

    Genomic context

    See TBC1D24 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (2475104..2509669)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (2525146..2555734)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene tubulin epsilon and delta complex 2 Neighboring gene uncharacterized LOC729652 Neighboring gene netrin 3 Neighboring gene ATPase H+ transporting V0 subunit c Neighboring gene amidohydrolase domain containing 2 Neighboring gene cementum protein 1

    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

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • TBC/RABGAPs, organism-specific biosystem (from REACTOME)
      TBC/RABGAPs, organism-specific biosystemRab GTPases are peripheral membrane proteins involved in membrane trafficking. Often through their indirect interactions with coat components, motors, tethering factors and SNAREs, the Rab GTPases se...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA1171, MGC102885

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    NOT regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cell junction IDA
    Inferred from Direct Assay
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    neuromuscular junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    terminal bouton ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    TBC1 domain family member 24
    Names
    TBC/LysM-associated domain containing 6
    skywalker homolog

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_028170.1 RefSeqGene

      Range
      5001..35588
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001199107.2NP_001186036.1  TBC1 domain family member 24 isoform 1

      See identical proteins and their annotated locations for NP_001186036.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB032997, AC093525, AC106820, BC112389
      Consensus CDS
      CCDS55980.1
      UniProtKB/Swiss-Prot
      Q9ULP9
      Related
      ENSP00000494678.1, ENST00000646147.1
      Conserved Domains (2) summary
      smart00584
      Location:342554
      TLDc; domain in TBC and LysM domain containing proteins
      pfam00566
      Location:48253
      RabGAP-TBC; Rab-GTPase-TBC domain
    2. NM_020705.3NP_065756.1  TBC1 domain family member 24 isoform 2

      See identical proteins and their annotated locations for NP_065756.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC093525, AC106820, BC112389
      Consensus CDS
      CCDS42107.1
      UniProtKB/Swiss-Prot
      Q9ULP9
      UniProtKB/TrEMBL
      H3BNU1
      Related
      ENSP00000454408.1, ENST00000567020.6
      Conserved Domains (2) summary
      smart00584
      Location:336548
      TLDc; domain in TBC and LysM domain containing proteins
      pfam00566
      Location:48253
      RabGAP-TBC; Rab-GTPase-TBC domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

      Range
      2475104..2509669
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023493.1XP_016878982.1  TBC1 domain family member 24 isoform X1

      UniProtKB/Swiss-Prot
      Q9ULP9
      Conserved Domains (2) summary
      smart00584
      Location:342554
      TLDc; domain in TBC and LysM domain containing proteins
      pfam00566
      Location:48253
      RabGAP-TBC; Rab-GTPase-TBC domain
    2. XM_017023495.1XP_016878984.1  TBC1 domain family member 24 isoform X2

      UniProtKB/Swiss-Prot
      Q9ULP9
      UniProtKB/TrEMBL
      H3BNU1
      Related
      ENSP00000455005.2, ENST00000569874.2
      Conserved Domains (2) summary
      smart00584
      Location:336548
      TLDc; domain in TBC and LysM domain containing proteins
      pfam00566
      Location:48253
      RabGAP-TBC; Rab-GTPase-TBC domain
    3. XM_017023494.1XP_016878983.1  TBC1 domain family member 24 isoform X2

      UniProtKB/Swiss-Prot
      Q9ULP9
      UniProtKB/TrEMBL
      H3BNU1
      Related
      ENSP00000494145.1, ENST00000643767.1
      Conserved Domains (2) summary
      smart00584
      Location:336548
      TLDc; domain in TBC and LysM domain containing proteins
      pfam00566
      Location:48253
      RabGAP-TBC; Rab-GTPase-TBC domain

    RNA

    1. XR_001751956.1 RNA Sequence

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