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

    Gene ID: 57465, updated on 3-Jul-2016
    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; Vega:OTTHUMG00000177150
    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]
    Orthologs
    Location:
    16p13.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 chromosome 16 open reading frame 59 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    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
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuromuscular junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    terminal bouton ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    TBC1 domain family member 24
    Names
    TBC/LysM-associated domain containing 6
    TBC1 domain family, member 24
    skywalker homolog

    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_001199107.1NP_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, AI685478, BC112389
      Consensus CDS
      CCDS55980.1
      UniProtKB/Swiss-Prot
      Q9ULP9
      Related
      ENSP00000293970, OTTHUMP00000255992, ENST00000293970, OTTHUMT00000435637
      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_020705.2NP_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, AI685478, BC112389
      Consensus CDS
      CCDS42107.1
      UniProtKB/Swiss-Prot
      Q9ULP9
      Related
      ENSP00000454408, OTTHUMP00000255991, ENST00000567020, OTTHUMT00000435636
      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 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_017023493.1XP_016878982.1  

    2. XM_017023495.1XP_016878984.1  

    3. XM_017023494.1XP_016878983.1  

    RNA

    1. XR_001751956.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      2525041..2555671
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)