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 TPR_28 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  
Disease (2)   
   OMIM (2)   
Gene (26)   
   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 (5)   
   Pfam (5)   
All databases (162)   

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