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

Gene ID: 57465, updated on 21-Oct-2018

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; 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]
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 current GRCh38.p12 (GCF_000001405.38) 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 Jun 15 11:32:44 2016

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 
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_001199107.1NP_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
    ENSP00000494678.1, OTTHUMP00000255992, ENST00000646147.1, 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
    UniProtKB/TrEMBL
    H3BNU1
    Related
    ENSP00000454408.1, OTTHUMP00000255991, ENST00000567020.6, 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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 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, OTTHUMP00000255995, ENST00000569874.2, OTTHUMT00000435641
    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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