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FLASH GENE
Symbol TBC1D1 contributors: mct/ - updated : 11-01-2012
HGNC name TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1
HGNC id 11578
Location 4p14      Physical location : 37.892.719 - 38.140.793
Synonym symbol(s) TBC, TBC1, KIAA1108
DNA
TYPE like-sequence
SPECIAL FEATURE arranged in tandem
STRUCTURE 248.08 kb     20 Exon(s)
10 Kb 5' upstream gene genomic sequence study
motif repetitive sequence   ALU   long interspersed repetitive elements
MAPPING cloned Y linked N status provisional
Physical map
CENTD1 4p14 centaurin, delta 1 MGC42157 4p15.1 hypothetical protein MGC42157 KIAA1239 4p15.1-p14 KIAA1239 protein LOC389205 4 similar to LINE-1 REVERSE TRANSCRIPTASE HOMOLOG FLJ11017 4p14 hypothetical protein FLJ11017 PGM2 4p14-q12 phosphoglucomutase 2 PTTG2 4p12 pituitary tumor-transforming 2 LOC338096 4p14 proteasome activator subunit 2 pseudogene MRPS33P2 4p14 mitochondrial ribosomal protein S33 pseudogene 2 TBC1D1 4p14 TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 FLJ13197 4p14 hypothetical protein FLJ13197 KLF3 4p14 Kruppel-like factor 3 (basic) TLR10 4p14 toll-like receptor 10 TLR1 4p14 toll-like receptor 1 TLR6 4p16.1 toll-like receptor 6 LOC92689 4p14 hypothetical protein BC001096 FLJ23235 4p14 hypothetical protein FLJ23235 KLHL5 4p15.1-p13 kelch-like 5 (Drosophila) PWDMP 4p14 WD repeat membrane protein PWDMP RFC1 4p14-p13 replication factor C (activator 1) 1, 145kDa LOC152831 4p14 klotho beta like RPL9 4p13 ribosomal protein L9 LIAS 4p14 lipoic acid synthetase LOC391645 4 similar to WD repeat domain 5; Bmp2-induced gene UGDH 4p15.1 UDP-glucose dehydrogenase LOC201895 4p14 hypothetical protein LOC201895 HIP2 4p14 huntingtin interacting protein 2 LOC391646 4 similar to chromosome 6 open reading frame 46; Em:AF134726.1 KIAA0648 4p15.1-p11 similar to chromosome 6 open reading frame 46; Em:AF134726.1 PABPCP1 4p14 poly(A) binding protein, cytoplasmic, pseudogene 1 LOC391647 4 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) LOC344967 4p14 similar to cytosolic acyl coenzyme A thioester hydrolase N4BP2 4p14 Nedd4 binding protein 2 ARHH 4p13 ras homolog gene family, member H LOC339997 4p14 hypothetical LOC339997 CHRNA9 4p15.1-p14 cholinergic receptor, nicotinic, alpha polypeptide 9
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
20 - 5688 - 1168 - 2008 18325908
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivesalivary gland   highly
Lymphoid/Immunelymph node   highly
Nervousbrain    
Reproductivemale systemtestis   
Urinarykidney   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal highly Homo sapiens
cell lineage hematopoietic cells
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
one RAB-GAP TBC domain
secondary structure
  • RabGAP domains have 16 alpha-helices and no beta-sheet elements
    • HOMOLOGY
    interspecies homolog to murine Tbc1d1
    intraspecies homolog to structurally similar to a known regulator of insulin-mediated Glut4 translocation
    Homologene
    FAMILY
    CATEGORY regulatory , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • putative GTPase activator protein of RAB-like small GTPase
  • may act as a GTPase activating protein for Rab family protein
  • TBC1D1 and TBC1D4 are Rab GTPase-activating proteins (RabGAPs) in skeletal myocytes and adipocytes, respectively, with functions in SLC2A4 vesicle trafficking
  • regulates SLC2A4 translocation through its GAP activity, and is a likely AKT1 substrate
    • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • RAB-like small GTPases
  • AKT1 substrate that is phosphorylated at Thr(590)
  • interacting with TARDBP (physiological role for TARDBP in regulating body fat and regulate TBC1D1 a gene associated with human obesity)
    • cell & other
    REGULATION
    Other phosphorylation of TBC1D1 is required for SLC2A4 translocation
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to severe obesity in females
    Variant & Polymorphism other R125W affects obesity susceptibility
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS