KEGG   Homo sapiens (human): 8729
Entry
8729              CDS       T01001                                 
Symbol
GBF1, ARF1GEF, CMT2GG, CMTDI2, CMTDIA
Name
(RefSeq) golgi brefeldin A resistant guanine nucleotide exchange factor 1
  KO
K18443  golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04144  Endocytosis
Network
nt06180  Pathogenic Escherichia coli
  Element
N01293  COPI vesicle formation
Disease
H00264  Charcot-Marie-Tooth disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04144 Endocytosis
    8729 (GBF1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    8729 (GBF1)
Membrane trafficking [BR:hsa04131]
 Endosome - Golgi transport
  Arf GTPases and associated proteins
   Arf GTPase associated proteins
    8729 (GBF1)
SSDB
Motif
Pfam: Sec7 Sec7-like_HUS DUF1045 DUF758
Other DBs
NCBI-GeneID: 8729
NCBI-ProteinID: NP_004184
OMIM: 603698
HGNC: 4181
Ensembl: ENSG00000107862
UniProt: Q92538
Position
10:102230643..102382896
AA seq 1859 aa
MVDKNIYIIQGEINIVVGAIKRNARWSTHTPLDEERDPLLHSFGHLKEVLNSITELSEIE
PNVFLRPFLEVIRSEDTTGPITGLALTSVNKFLSYALIDPTHEGTAEGMENMADAVTHAR
FVGTDPASDEVVLMKILQVLRTLLLTPVGAHLTNESVCEIMQSCFRICFEMRLSELLRKS
AEHTLVDMVQLLFTRLPQFKEEPKNYVGTNMKKLKMRAGGMSDSSKWKKQKRSPRPPRHM
TKVTPGSELPTPNGTTLSSNLTGGMPFIDVPTPISSASSEAASAVVSPSTDSGLEFSSQT
TSKEDLTDLEQPGSPGYSTATEPGSSELGVPEQPDLQEGTHVEKSQSASVESIPEVLEEC
TSPADHSDSASVHDMDYVNPRGVRFTQSSQKEGTALVPYGLPCIRELFRFLISLTNPHDR
HNSEVMIHMGLHLLTVALESAPVAQCQTLLGLIKDEMCRHLFQLLSIERLNLYAASLRVC
FLLFESMREHLKFQMEMYIKKLMEIITVENPKMPYEMKEMALEAIVQLWRIPSFVTELYI
NYDCDYYCSNLFEELTKLLSKNAFPVSGQLYTTHLLSLDALLTVIDSTEAHCQAKVLNSL
TQQEKKETARPSCEIVDGTREASNTERTASDGKAVGMASDIPGLHLPGGGRLPPEHGKSG
CSDLEEAVDSGADKKFARKPPRFSCLLPDPRELIEIKNKKKLLITGTEQFNQKPKKGIQF
LQEKGLLTIPMDNTEVAQWLRENPRLDKKMIGEFVSDRKNIDLLESFVSTFSFQGLRLDE
ALRLYLEAFRLPGEAPVIQRLLEAFTERWMNCNGSPFANSDACFSLAYAVIMLNTDQHNH
NVRKQNAPMTLEEFRKNLKGVNGGKDFEQDILEDMYHAIKNEEIVMPEEQTGLVRENYVW
NVLLHRGATPEGIFLRVPTASYDLDLFTMTWGPTIAALSYVFDKSLEETIIQKAISGFRK
CAMISAHYGLSDVFDNLIISLCKFTALSSESIENLPSVFGSNPKAHIAAKTVFHLAHRHG
DILREGWKNIMEAMLQLFRAQLLPKAMIEVEDFVDPNGKISLQREETPSNRGESTVLSFV
SWLTLSGPEQSSVRGPSTENQEAKRVALECIKQCDPEKMITESKFLQLESLQELMKALVS
VTPDEETYDEEDAAFCLEMLLRIVLENRDRVGCVWQTVRDHLYHLCVQAQDFCFLVERAV
VGLLRLAIRLLRREEISAQVLLSLRILLLMKPSVLSRVSHQVAYGLHELLKTNAANIHSG
DDWATLFTLLECIGSGVKPPAALQATARADAPDAGAQSDSELPSYHQNDVSLDRGYTSDS
EVYTDHGRPGKIHRSATDADVVNSGWLVVGKDDVDNSKPGPSRPGPSPLINQYSLTVGLD
LGPHDTKSLLKCVESLSFIVRDAAHITPDNFELCVKTLRIFVEASLNGGCKSQEKRGKSH
KYDSKGNRFKKKSKEGSMLRRPRTSSQHASRGGQSDDDEDEGVPASYHTVSLQVSQDLLD
LMHTLHTRAASIYSSWAEEQRHLETGGQKIEADSRTLWAHCWCPLLQGIACLCCDARRQV
RMQALTYLQRALLVHDLQKLDALEWESCFNKVLFPLLTKLLENISPADVGGMEETRMRAS
TLLSKVFLQHLSPLLSLSTFAALWLTILDFMDKYMHAGSSDLLSEAIPESLKNMLLVMDT
AEIFHSADARGGGPSALWEITWERIDCFLPHLRDELFKQTVIQDPMPMEPQGQKPLASAH
LTSAAGDTRTPGHPPPPEIPSELGACDFEKPESPRAASSSSPGSPVASSPSRLSPTPDGP
PPLAQPPLILQPLASPLQVGVPPMTLPIILNPALIEATSPVPLLATPRPTDPIPTSEVN
NT seq 5580 nt   +upstreamnt  +downstreamnt
atggtggataagaatatttacatcattcaaggggagattaacattgtggttggggccatc
aaacgaaatgcccgatggagcacccatacaccactggatgaagaacgggatcctctgctg
catagtttcggtcatctaaaggaggttttaaacagtataacagaactctcagaaattgag
cccaatgtattccttcgaccttttctggaagtgattcgctctgaagataccactggccct
atcactggactggcactcacctctgtcaacaagttcctgtcctatgcactcatagatccc
acccatgagggcacagcagagggcatggagaacatggcagatgctgtcacccatgctcgt
tttgtgggcacggatcctgccagtgatgaagttgtcctgatgaaaatccttcaggttcta
cggactctgctgctaaccccagtgggtgcccacctaaccaatgaatctgtgtgtgagatt
atgcagtcttgcttccggatctgctttgaaatgaggctcagtgagttattgagaaaatcc
gcagagcacactctcgtagacatggtgcagctgctcttcacaaggttacctcagtttaaa
gaagaacccaagaactatgtggggaccaacatgaagaagctgaaaatgagagccggaggc
atgagtgattcatccaaatggaagaaacagaagagatcccctcggcccccacgccatatg
accaaagtcacaccaggttcagagctgcccactcccaatggaaccaccttatcatctaac
ctcactggtggcatgcccttcattgatgtgcccactcccatctcctctgcaagttcagaa
gctgcctcagcagtggtcagtccctctacagacagtggcctggaattctcctcccaaacc
acttccaaggaagaccttactgatctagagcaacctggctctccagggtacagcacagct
acagagcctggaagcagtgagctaggtgttcccgagcagcctgacctccaggaagggacc
catgtggaaaagtcccagtcagcatctgtggagtccatccctgaagtgttagaggagtgc
acgtcccctgccgaccactctgactctgcctctgtccatgacatggattacgtcaatccc
cggggcgtgcgctttacacagtcctcccagaaagaaggcacagctttggtcccctatggt
cttccctgcatccgcgagctcttccgcttcctcatctccctcaccaatccacacgaccgc
cataactcagaggttatgattcacatgggactgcatttgctgacagtggcccttgagtca
gcccctgtagcccagtgccagaccctcttgggcctcatcaaggatgagatgtgccgtcac
ttattccagctactcagcatagagcgactaaacctttatgctgcttccctgcgagtatgc
ttcctactgtttgagagcatgcgagagcacctcaagttccaaatggagatgtacatcaaa
aagcttatggagatcatcactgtggagaaccccaagatgccttatgagatgaaggagatg
gcactggaggccattgtgcagctctggcgcatccccagctttgtcacagagctctacatc
aactatgattgtgactactactgttccaacctctttgaggaactcacaaagctgctgtcc
aagaatgccttccctgtgtctggtcaactctatacaacacacctactatctcttgatgcc
ctattgacagtgattgacagcaccgaggcccactgccaggctaaagtcctcaacagcctc
acccagcaagagaagaaggagacagccagaccaagctgtgagatagtagatggcacccga
gaagctagcaatactgagagaactgccagcgatgggaaagctgtaggcatggcctcagac
atcccaggcctgcatctgccaggtggagggcggctgccaccagaacatgggaaatcagga
tgcagtgatctggaggaagctgttgactctggggctgacaaaaagtttgcccggaagcca
ccccgattttcctgtctcctgccagatccacgggaactaattgaaattaaaaacaaaaag
aagctgctaatcactggcacagagcagttcaatcagaaaccaaagaaggggattcagttt
ctgcaagagaaaggcctcctcaccatcccaatggacaacacagaggttgctcagtggctc
cgagagaaccctcggctggacaagaagatgattggagagtttgtgagtgaccgcaaaaac
attgacctgttggagagctttgtgagcaccttcagttttcagggtctgcgactggacgaa
gccctccgcctctacctggaagccttccgtttgcctggggaagcaccagtcatccagagg
ttgctggaggcattcacagagcgttggatgaattgtaatggctccccatttgccaatagc
gatgcctgcttttccctggcctatgctgtcatcatgcttaatactgaccagcacaaccac
aatgttcgtaaacagaatgcacccatgaccctggaggagtttcgcaaaaatctgaaaggt
gtgaatggaggcaaggactttgagcaagacatcctggaggacatgtaccatgccatcaag
aatgaggaaattgtaatgcctgaggagcagacaggcttggttcgggagaactatgtgtgg
aatgtgctgcttcatcgaggtgccacccctgagggcatattcctgcgtgtgcctactgcc
agctatgatcttgacctcttcaccatgacctggggccccactattgctgctctctcttat
gtctttgacaaaagccttgaggagacaatcatccagaaagccatctcaggcttcaggaag
tgcgccatgatctccgcccactatggcctcagcgatgtgtttgacaatctcatcatctct
ctatgcaaattcacagctctcagcagtgagtctattgagaacctgcccagtgtatttgga
agcaaccctaaagcccatattgcagccaagacagtattccatttggcccatcgtcatggt
gacatcctgcgggagggctggaagaatatcatggaggccatgctgcagctcttccgagcc
caactactgcccaaggctatgatagaggtagaagatttcgtggatcccaatggcaagatc
tctctacagcgggaagagacaccatcaaaccgaggagagtcaacagtgctgagctttgtg
agctggctaacactgagtggtcctgagcagtctagtgttcggggcccatccactgaaaac
caagaggccaagagagtggccttagagtgtataaagcaatgtgacccagaaaaaatgatc
acagaaagcaagttcctccagctggagtcactacaggagctcatgaaggctctggtctca
gtgacaccagatgaagagacatatgatgaggaagatgctgctttctgcctagagatgctg
ctaaggattgtgttggagaacagggatcgtgtgggctgtgtgtggcagactgttcgagac
catctataccacctctgtgttcaggcacaagatttctgcttccttgtggagcgggcagtg
gtggggttgctacgcctggccattcggcttctccggagagaagagatcagtgctcaggtg
ctgctctccctgcgcattttgctactgatgaagcccagtgtgctatcccgagtcagccac
caggttgcgtatgggctccatgaactcctgaagaccaatgcagccaacatccactcaggt
gatgactgggccacactcttcacactgctggagtgcatcggctcaggtgtgaagcctcca
gctgctctgcaggccacagccagggcagatgcacctgatgccggggcccagtcagatagt
gagctcccatcctaccatcagaatgacgtgagcctggatcgagggtacacttccgactca
gaggtctacactgaccatggcaggccgggcaagatacaccgatcagccacagatgccgat
gtggtcaacagtggttggttagtggttgggaaggatgacgttgataactccaagccaggg
cccagccgcccaggcccttcacccctgatcaatcaatacagcctaacagtgggactggat
ttggggccacacgacactaagtctctgcttaagtgtgtggaatcgctgtccttcattgtg
cgtgatgctgcccacatcacacctgacaactttgagctctgcgtcaagactctccggatc
tttgtggaggccagtctgaatggcggatgcaagtcccaggagaaacgtggcaagagtcac
aaatatgacagcaaagggaaccgcttcaagaagaaatccaaagagggatcaatgcttcgc
cggcctcgaacctccagccaacatgcctctcggggcgggcagagtgatgatgatgaggac
gaaggcgtgcctgccagctaccatacggtgtctttacaggtcagtcaggacttgctagac
ctgatgcacaccctgcacacgcgggcagcctctatctacagctcatgggcggaggagcaa
cgccacctggagacaggtggccagaagattgaagctgattctcgcaccctctgggcccac
tgctggtgccctttactgcagggtattgcctgcctgtgctgcgatgcccggcgccaggta
cggatgcaggcactgacctatctgcagcgagcactacttgtacatgatctgcaaaagcta
gatgccctggaatgggagtcctgttttaacaaggtgctgtttcctctacttaccaagctc
ttggagaacatcagccctgcagatgtgggtgggatggaggagacccggatgagggcttcc
acattgctctctaaggtcttcctgcagcacctgtctccactgctgtcactctctaccttt
gcggccctctggctcaccatcttggacttcatggacaagtacatgcacgcaggctccagc
gacttactgtcagaggcgatccctgagtctctgaagaacatgcttctggtgatggacaca
gcggagattttccacagtgcagatgcacggggaggcggcccctcggccctctgggagatc
acctgggaacgcattgactgttttctccctcacctacgagatgaactcttcaagcagacc
gtcatccaggaccccatgcccatggagcctcaaggccaaaagcctctcgcctcagcccac
ctgacttccgctgctggcgacactaggacacctggccatccaccgcccccagagattcca
tctgagctgggggcctgtgactttgagaagcccgagagcccccgagccgccagcagcagc
tccccaggatcaccagtggcctcaagccccagcaggctgagccccacccccgacgggcct
ccacccttggctcagcccccactgatcctgcagcccttggcctccccactgcaggtgggc
gtgccacctatgactctgcccatcatcctcaaccctgcgctcatcgaggccacctcacca
gtgcccctcctggccacaccccgccccacagatcccatacccacctctgaggtcaactaa

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Network (2)   
   KEGG NETWORK (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (27)   
   KEGG ORTHOLOGY (1)   
   RefGene (19)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (48)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (46)   
DNA sequence (81)   
   RefSeq(nuc) (53)   
   GenBank (14)   
   EMBL (14)   
Protein domain (4)   
   Pfam (4)   
All databases (169)   

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