KEGG   Homo sapiens (human): 51256
Entry
51256             CDS       T01001                                 
Symbol
TBC1D7, MGCPH, PIG51, TBC7
Name
(RefSeq) TBC1 domain family member 7
  KO
K20396  TBC1 domain family member 7
Organism
hsa  Homo sapiens (human)
Pathway
hsa04150  mTOR signaling pathway
Network
nt06522  mTOR signaling
  Element
N01575  TSC1/2-mTORC1 signaling pathway
N01576  STRAD/STK11- TSC signaling pathway
Disease
H02446  Autosomal recessive macrocephaly/megalencephaly syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04150 mTOR signaling pathway
    51256 (TBC1D7)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    51256 (TBC1D7)
Membrane trafficking [BR:hsa04131]
 Protein recycling
  Rab GTPases and associated proteins
   Other Rab GTPase associated proteins
    51256 (TBC1D7)
SSDB
Motif
Pfam: RabGAP-TBC DrrA_P4M
Other DBs
NCBI-GeneID: 51256
NCBI-ProteinID: NP_001137436
OMIM: 612655
HGNC: 21066
Ensembl: ENSG00000145979
UniProt: Q9P0N9
Structure
Position
6:complement(13304951..13328537)
AA seq 293 aa
MTEDSQRNFRSVYYEKVGFRGVEEKKSLEILLKDDRLDTEKLCTFSQRFPLPSMYRALVW
KVLLGILPPHHESHAKVMMYRKEQYLDVLHALKVVRFVSDATPQAEVYLRMYQLESGKLP
RSPSFPLEPDDEVFLAIAKAMEEMVEDSVDCYWITRRFVNQLNTKYRDSLPQLPKAFEQY
LNLEDGRLLTHLRMCSAAPKLPYDLWFKRCFAGCLPESSLQRVWDKVVSGSCKILVFVAV
EILLTFKIKVMALNSAEKITKFLENIPQDSSDAIVSKAIDLWHKHCGTPVHSS
NT seq 882 nt   +upstreamnt  +downstreamnt
atgactgaggactctcagagaaactttcgttcagtatattatgagaaagtggggtttcgt
ggagttgaagaaaagaaatcattagaaattctcctaaaagatgaccgtctggatactgag
aaactttgtacttttagtcagaggttccctctcccgtccatgtaccgtgcattggtatgg
aaggtgcttctaggaatcttgcctccacaccacgagtcccatgccaaggtgatgatgtat
cgtaaggagcagtacttggatgtccttcatgccctgaaagtcgttcgctttgttagtgat
gccacacctcaggctgaagtctatctccgcatgtatcagctggagtctgggaagttacct
cgaagtccctcttttccactggagccagatgatgaagtgtttcttgccatagctaaagcc
atggaggaaatggtggaagatagtgtcgactgttactggatcacccgacgctttgtgaac
caattaaataccaagtaccgggattccttgccccagttgccaaaagcgtttgaacaatac
ttgaatctggaagatggcagactgctgactcatctgaggatgtgttccgcggcgcccaaa
cttccttatgatctctggttcaagaggtgctttgcgggatgtttgcctgaatccagttta
cagagggtttgggataaagttgtgagtggatcctgtaagatcctagtttttgtagctgtc
gaaattttattaacctttaaaataaaagttatggcactgaacagtgcagagaagataaca
aagtttctggaaaatattccccaggacagctcagacgcgatcgtgagcaaggccattgac
ttgtggcacaaacactgtgggaccccggtccattcaagctga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Network (3)   
   KEGG NETWORK (3)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (12)   
   KEGG ORTHOLOGY (1)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (9)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (7)   
DNA sequence (37)   
   RefSeq(nuc) (7)   
   GenBank (15)   
   EMBL (15)   
3D Structure (5)   
   PDB (5)   
Protein domain (2)   
   Pfam (2)   
All databases (75)   

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