Gene name:
    TBC1D1 (KIAA1108) ;
    
 
    Protein name:
    TBC1 domain family member 1 ;
    
    Alternative:
    
    
    
 
    Organism:
        
        
        
        
        
        
    
        Human  (Homo sapiens).  
    
 
General Annotation
    Function:
    May act as a GTPase-activating protein for Rab family protein(s). May play a role in the cell cycle and differentiation of various tissues.
    
 
    
        
        Subcellular Location:
        
    
     
     
      Nucleus 
     
  
    
 
    
    Protein Attributes:
    
    50:
    MEPITFTARK |  HLLSNEVSVD |  FGLQLVGSLP |  VHSLTTMPML |  PWVVAEVRRL |  
    
 
    100:
    SRQSTRKEPV |  TKQVRLCVSP |  SGLRCEPEPG |  RSQQWDPLIY |  SSIFECKPQR |  
    
 
    150:
    VHKLIHNSHD |  PSYFACLIKE |  DAVHRQSICY |  VFKADDQTKV |  PEIISSIRQA |  
    
 
    200:
    GKIARQEELH |  CPSEFDDTFS |  KKFEVLFCGR |  VTVAHKKAPP |  ALIDECIEKF |  
    
 
    250:
    NHVSGSRGSE |  SPRPNPPHAA |  PTGSQEPVRR |  PMRKSFSQPG |  LRSLAFRKEL |  
    
 
    300:
    QDGGLRSSGF |  FSSFEESDIE |  NHLISGHNIV |  QPTDIEENRT |  MLFTIGQSEV |  
    
 
    350:
    YLISPDTKKI |  ALEKNFKEIS |  FCSQGIRHVD |  HFGFICRESS |  GGGGFHFVCY |  
    
 
    400:
    VFQCTNEALV |  DEIMMTLKQA |  FTVAAVQQTA |  KAPAQLCEGC |  PLQSLHKLCE |  
    
 
    450:
    RIEGMNSSKT |  KLELQKHLTT |  LTNQEQATIF |  EEVQKLRPRN |  EQRENELIIS |  
    
 
    500:
    FLRCLYEEKQ |  KEHIHIGEMK |  QTSQMAAENI |  GSELPPSATR |  FRLDMLKNKA |  
    
 
    550:
    KRSLTESLES |  ILSRGNKARG |  LQEHSISVDL |  DSSLSSTLSN |  TSKEPSVCEK |  
    
 
    600:
    EALPISESSF |  KLLGSSEDLS |  SDSESHLPEE |  PAPLSPQQAF |  RRRANTLSHF |  
    
 
    650:
    PIECQEPPQP |  ARGSPGVSQR |  KLMRYHSVST |  ETPHERKDFE |  SKANHLGDSG |  
    
 
    700:
    GTPVKTRRHS |  WRQQIFLRVA |  TPQKACDSSS |  RYEDYSELGE |  LPPRSPLEPV |  
    
 
    750:
    CEDGPFGPPP |  EEKKRTSREL |  RELWQKAILQ |  QILLLRMEKE |  NQKLQASEND |  
    
 
    800:
    LLNKRLKLDY |  EEITPCLKEV |  TTVWEKMLST |  PGRSKIKFDM |  EKMHSAVGQG |  
    
 
    850:
    VPRHHRGEIW |  KFLAEQFHLK |  HQFPSKQQPK |  DVPYKELLKQ |  LTSQQHAILI |  
    
 
    900:
    DLGRTFPTHP |  YFSAQLGAGQ |  LSLYNILKAY |  SLLDQEVGYC |  QGLSFVAGIL |  
    
 
    950:
    LLHMSEEEAF |  KMLKFLMFDM |  GLRKQYRPDM |  IILQIQMYQL |  SRLLHDYHRD |  
    
 
    1000:
    LYNHLEEHEI |  GPSLYAAPWF |  LTMFASQFPL |  GFVARVFDMI |  FLQGTEVIFK |  
    
 
    1050:
    VALSLLGSHK |  PLILQHENLE |  TIVDFIKSTL |  PNLGLVQMEK |  TINQVFEMDI |  
    
 
    1100:
    AKQLQAYEVE |  YHVLQEELID |  SSPLSDNQRM |  DKLEKTNSSL |  RKQNLDLLEQ |  
    
 
    1150:
    LQVANGRIQS |  LEATIEKLLS |  SESKLKQAML |  TLELERSALL |  QTVEELRRRS |  
    
 
    1168:
    AEPSDREPEC |  TQPEPTGD
    
 
      Vaild Sequence:
    
 
Related Databases
Uniprot:
 
 
    
        
        ELISA Kit
         
        
        CLIA Kit
         
        
        Polyclonal Antibody
         
        
        Monoclonal Antibody
         
        
        Protein
         
        
     
FOR
    
        
        Human
         
        
        Bovine
         
        
        Mouse
         
        
     
    
        ELISA Kit for Human TBC1 domain family member 1
        
     
    
    
    
    
   
    
    
    
    
    
    
    
    
    
    
    
    
 
    
        ELISA Kit for Human TBC1 domain family member 1
        
     
    
    
    
    
   
    
    
    
    
    
    
    
    
 
    
        ELISA Kit for Human TBC1 domain family member 1
        
     
    
    
    
    
   
    
    
    
    
    
    
    
    
 
    
        CLIA Kit for Human TBC1 domain family member 1
        
     
    
    
    
    
   
    
    
    
    
    
    
    
    
 
    
        CLIA Kit for Human TBC1 domain family member 1
        
     
    
    
    
    
   
    
    
    
    
    
    
    
    
 
    
        CLIA Kit for Human TBC1 domain family member 1
        
     
    
    
    
    
   
    
    
    
    
    
    
    
    
 
    
        Polyclonal Antibody for Human TBC1 domain family member 1
        
     
    
    
    
    
    
    
 
    
        Polyclonal Antibody for Human TBC1 domain family member 1
        
     
    
    
    
    
   
    
    
    
    
    
    
 
    
        Polyclonal Antibody for Human TBC1 domain family member 1
        
     
    
    
    
    
   
    
    
    
    
    
    
 
    
        Monoclonal Antibody for Human TBC1 domain family member 1
        
     
    
    
    
    
    
    
 
    
        Monoclonal Antibody for Human TBC1 domain family member 1
        
     
    
    
    
    
    
    
 
    
        Monoclonal Antibody for Human TBC1 domain family member 1
        
     
    
    
    
    
    
    
 
    
        Protein for Human TBC1 domain family member 1
        
     
    
    
    
    
    
    
 
    
        Protein for Human TBC1 domain family member 1
        
     
    
    
    
    
    
    
 
    
        Protein for Human TBC1 domain family member 1
        
     
    
    
    
    
    
    
 
 
 
 
 
 
 
 
    R&D Technical Data
    
    
    
        For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    
    
    
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    Precision
    
    
    
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    Recovery
    
    
    
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    Linearity
    
    
    
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        For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    
    
    
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    References
    
    
        
            
        
            
                1.
                
                    
                        
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                              more...   
                             
                        
                        
                        
                            Nat. Genet.36:40-45(2004)
                         
                        
                        
                        [
PubMed ]
                        [
Europe PMC ]
                        [
Abstract ]
                        
                    
 
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2);NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 482-1168 (ISOFORM 1);VARIANT PRO-14 
                    
                    
                    tissue :
                    
Embryo . tissue :
                    
Hippocampus .  
             
         
            
        
            
                2.
                
                    
                        
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                            Marra M.A. 
                        ,
                            Ovcharenko I. 
                        ,
                            Furey T.S. 
                        ,
                            Miller W. 
                        ,
                            Eichler E.E. 
                        ,
                            Bork P. 
                        ,
                            Suyama M. 
                        ,
                            Torrents D. 
                        ,
                            Waterston R.H. 
                        ,
                            Wilson R.K. 
                        
                             
                              more...   
                             
                        
                        
                        
                            Nature434:724-731(2005)
                         
                        
                        
                        [
PubMed ]
                        [
Europe PMC ]
                        [
Abstract ]
                        
                    
 
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] 
                    
                    
                 
             
         
            
        
            
                3.
                
                    
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1) 
                    
                    
                    tissue :
                    
Brain .  
             
         
            
        
            
                4.
                
                    
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 406-1168 (ISOFORM 1) 
                    
                    
                    tissue :
                    
Brain .  
             
         
            
        
            
                5.
                
                    
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for SEQUENCE REVISION 
                    
                    
                 
             
         
            
        
            
                6.
                
                    
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS] 
                    
                    
                 
             
         
            
        
            
                7.
                
                    
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-507; SER-565; SER-570; SER-573 AND SER-585;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS] 
                    
                    
                    tissue :
                    
Leukemic T-cell .  
             
         
            
        
            
                8.
                
                    
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 750-1072;MUTAGENESIS OF MET-930 AND LEU-1019 
                    
                    
                 
             
         
            
        
            
                9.
                
                    
                        
                            "TBC1D1 is a candidate for a severe obesity gene and evidence for a gene/gene interaction in obesity predisposition." 
                        
                        
                            Stone S. 
                        ,
                            
Abkevich V. 
                        ,
                            
Russell D.L. 
                        ,
                            
Riley R. 
                        ,
                            
Timms K. 
                        ,
                            
Tran T. 
                        ,
                            
Trem D. 
                        ,
                            
Frank D. 
                        ,
                            
Jammulapati S. 
                        ,
                            
Neff C.D. 
                        ,
                            
Iliev D. 
                        ,
                            
Gress R. 
                        ,
                            
He G. 
                        ,
                            
Frech G.C. 
                        ,
                            
Adams T.D. 
                        ,
                            
Skolnick M.H. 
                        ,
                            
Lanchbury J.S. 
                        ,
                            
Gutin A. 
                        ,
                        
                        
                            Hunt S.C. 
                        ,
                            Shattuck D. 
                        
                             
                              more...   
                             
                        
                        
                        
                            Hum. Mol. Genet.15:2709-2720(2006)
                         
                        
                        
                        [
PubMed ]
                        [
Europe PMC ]
                        [
Abstract ]
                        
                    
 
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for VARIANT TRP-125 
                    
                    
                 
             
         
            
        
            
                10.
                
                    
                        
                            "R125W coding variant in TBC1D1 confers risk for familial obesity and contributes to linkage on chromosome 4p14 in the French population." 
                        
                        
                            Meyre D. 
                        ,
                            
Farge M. 
                        ,
                            
Lecoeur C. 
                        ,
                            
Proenca C. 
                        ,
                            
Durand E. 
                        ,
                            
Allegaert F. 
                        ,
                            
Tichet J. 
                        ,
                            
Marre M. 
                        ,
                            
Balkau B. 
                        ,
                            
Weill J. 
                        ,
                            
Delplanque J. 
                        ,
                            
Froguel P. 
                        
                        
                        
                        
                            Hum. Mol. Genet.17:1798-1802(2008)
                         
                        
                        
                        [
PubMed ]
                        [
Europe PMC ]
                        [
Abstract ]
                        
                    
 
                    
                        [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
                        Cited for VARIANT TRP-125