KEGG   Homo sapiens (human): 23086
Entry
23086             CDS       T01001                                 
Symbol
EXPH5, EBS4, SLAC2-B, SLAC2B
Name
(RefSeq) exophilin 5
  KO
K22236  exophilin-5
Organism
hsa  Homo sapiens (human)
Disease
H00584  Epidermolysis bullosa simplex
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    23086 (EXPH5)
Membrane trafficking [BR:hsa04131]
 Exocytosis
  Small GTPases and associated proteins
   Rab associated proteins
    23086 (EXPH5)
SSDB
Motif
Pfam: FYVE_2 DUF2300
Other DBs
NCBI-GeneID: 23086
NCBI-ProteinID: NP_055880
OMIM: 612878
HGNC: 30578
Ensembl: ENSG00000110723
Pharos: Q8NEV8(Tbio)
UniProt: Q8NEV8 Q149M6
Position
11:complement(108505435..108607536)
AA seq 1989 aa
MTKVPPAFDFSFLNDEEARKILQVLERNEELQRAEKDRISKLQKTKRDIRWLQGVTGEWF
EEIQRKKFCNETDVSQMLKQPLTYRLSKEMAKNDPIELPTSRSKNVTNQKKPTPFSSRMS
FRSSFASLFSFRKSGKETSKLPSLGQKGCDGHAGPPMPVRGAAVQAKIYNSPLENHLVDS
TFVPKPAVMREESGMPPPWDASLLENEFFQVLDDLDSKLAQEQSASSVNTRTPLNYGSRT
QFGHFYSSGNRHGNITERHKKHYNETSNMSIYDILRPGTPREGFKTFSPRTSTIYDMYRT
REPRVFKEDYVQKNTFGSTSLCFDSRQRSALPATGHFTARSLHFPATTQSKSGFIPPRHQ
QSPKRTPLSSIIWNRSDSSRDRENQEEFLRAPSPMEIDPADKYVYPRGFQENKRYESYHS
QNVYQRVSLNAPMENAMSPDTFENSENMPFYHQSNTFTRSFFSNTFGRSGEQRRFGQGPF
WGQEKGHSFWSDFHRSRKSFSSSDRDFEMISMEANSVSAIHGHNVSSEHWESFSSGYGTD
VSRGQEEPHPWQFDFQRSTLDSMVVSHGNETQLTPHFGTPNVCSMTGSSYHVKSSELVSQ
QDSSPVEVHINKEASSFGIAQTLASSFKTSFSQISDDRRNPQSPNLQNPTVTLQKIFPNK
PASHPMRSHTEVTVTSSNSVDSLPLAKSQPNILVTEVNNEKDLNESISEEDKQLSKMDQT
NKAGEIPQPVSQTGISNSLPDFQNPLSQDSAKSNGFGFNASTIISSKKSPRVFSRKDTSK
MYIPHTDKSNDIKQDKRFTENRKLGSTASLPFIQEHRTPPSFPRTDQGCHQELTVNNEDI
SRIITNNHWSSALTDTQNAQYSKCKLTPGHKTSCDSLDLSSAALPDSSPSKNSSLDAPVV
PSTTVFSRRSPSDKDPSLGEREEKDNAGKNQKNQFIVSHSENQERNDSPVPTHDEVVDVK
CHSHSPFRNERGKGKIRHHISCIEKLSKTESISVPTSDHRSLIEANQSNSKVSELDTIYC
TLPRKSSSFLIHGRQSGSKIMAASLRNGPPPFQIKNNVEDAMGNYMLNKFSPSSPESANE
CSKVLSDSALEAPEATERMTNVKSSGSTSVRKGPLPFLINRAMSCPSGEPHASTGREGRK
KPLTSGMDASELTPRAWERIISPVESDSSVRDCSLTKRQHQKENFQEYTEKEGKMAASRR
SVFALSNEDPLPFCSDLSGKERGKTLHKVKTTSTFSVSGDEDNVKCLEVVSIYYTLPRKP
SKKFCNLLQQYTQNTNLLIESPQVETETFPNALEKDKQNYSTREQSGTPSCENLKMSVNS
DQTLTTENMTAFRLSNRGPLAPTLQEMASVEAAVSLPEEESKAREIFSDNLAKTPLGDSE
NKKERGKKLQSETLHTSLMLQRKNVSEEKSENCQQSINSSNSGPSSLPALSEVNIGNSQT
RRSSWECTGSGRAIPFTGSGKCPQKDHTSTAVGDGSSGSQPREGRGDIGTNCQKMTNKTL
SHSESQVFALTPALHKLQLGEETQSDEPNLESLQSEPRELPQRSQEANMTESRKAEDEMQ
KSAWDQPSLPEGNKNKTNLDDLVKGENRSSVKHRLAAMSKASRKFPAKDVSPRRHVATIF
PQSGSRSGFDHLSLGTVECNPLFPEPTPKSAESIGESRLSENGKHVKKSENLLPITVLPN
REPSTHVSNQKSNSISQRHQNEFKNVSESPSKHENSKDVTAAQNLVRESGAPSPITFTSL
REAEFSDNQRRLSPPFPLEPAQKSRVSSPLASFLQQQRSASSLEWEPEPHLYRSKSLKSI
NVHGDLLRKSHPPKVRERHFSESTSIDNALSRLTLGNEFSVNNGYSRRFRSFSELPSCDG
NESWAYRSGTKTGPRSAISIYRPIDYGIFGKEQQLAFLENVKRSLTQGRLWKPSFLKNPG
FLKDDLRNPPNPSESLSSNSPSSQVPEDGLSPSEPLNIYEDDPVDSDCDTDTTTDDEYYL
DENDKESEL
NT seq 5970 nt   +upstreamnt  +downstreamnt
atgacgaaagttcctccggcgtttgatttcagtttcttaaatgacgaagaggccaggaag
atccttcaggtgctggaaaggaatgaggagttacagagggccgagaaggacaggatcagc
aaacttcagaagacaaagagggatatcagatggcttcagggagtgactggtgaatggttt
gaagaaattcaaagaaaaaagttttgcaatgaaacagatgttagccaaatgttaaaacaa
ccacttacatacaggctaagtaaggagatggcaaaaaatgatccgatagaattacctaca
tcaagatctaaaaatgtaactaatcaaaaaaagccgacacctttttcttcccggatgagc
ttcagatcgtcatttgcttccctgttctcattcaggaaatctggaaaggagacttcaaag
cttccatcactgggacagaaaggatgtgatggccatgcaggacctcctatgcctgtgagg
ggagctgctgtgcaggcaaaaatatacaattcacctctggaaaatcatctagttgacagt
acatttgtcccaaagccagcagtcatgagggaggagagtggcatgcctccaccgtgggat
gcttcactgctggagaatgagtttttccaagttttagatgacttggatagcaaattggct
caggaacagtctgcaagctcagtgaataccagaacacccctcaactatggatcaagaaca
cagttcggtcacttttattccagtggtaacagacatggtaatatcacagaaaggcacaaa
aaacactataatgaaacttccaatatgtctatctatgacatcctaagaccaggaactcct
agggaaggttttaaaaccttttctcctaggacaagcacaatttatgatatgtataggaca
agggagcccagagtctttaaagaagattatgtgcaaaagaatacttttggcagtacttcg
ctgtgttttgacagcaggcaacggtcggccttaccagccacagggcatttcacagcaaga
agcttacattttccagccacaactcagagcaagagtgggtttataccaccaaggcaccag
cagagtccaaagagaactcctttatcatccatcatatggaacagatcagattcctctaga
gacagggagaaccaggaagagttcctgagggcaccatcaccaatggaaattgatcccgct
gacaagtatgtgtatcccaggggttttcaggagaataagagatatgaatcgtaccattca
cagaatgtttaccaacgtgttagtttaaatgctcccatggagaatgcaatgagtcccgac
acttttgagaactcagagaacatgccattctaccatcaaagcaacacatttaccagatct
ttcttcagcaatacctttggacgaagcggagaacagaggagatttggacaaggtcctttt
tggggccaagagaaaggacattctttctggtctgactttcatcgaagcaggaaatcattc
agttcttctgacagagactttgaaatgatttccatggaagcaaatagtgtatcagccatt
catggccataatgtttcttctgaacactgggaatcattttcttctggttatggaacagat
gtttccagaggccaagaagagccacatccttggcagtttgattttcagagatccacactg
gatagcatggtggtatcacatggtaatgagacccagttgactcctcattttggcacacca
aatgtttgctccatgactggttcaagctatcacgtcaaatctagtgagttggtaagtcaa
caggacagttctcctgtagaagtacatataaacaaagaagcttcctcatttggaattgct
cagactctagcatcctcattcaaaacttccttttcccagatttctgatgacagaaggaat
cctcagagtcccaacttgcagaatcccacagtcactttgcagaaaatttttccaaataag
cctgcctctcatccaatgagaagccatacagaagtcactgtgaccagcagcaattcagtt
gactctctgcctcttgccaaaagccagcccaatatcttggtcacagaagtaaataatgag
aaagacttaaatgaatctatttcagaagaagacaaacagctaagcaagatggaccagaca
aacaaggcaggtgaaataccccaacctgtttcacagacagggatctcaaactctttacct
gattttcaaaatcccttatcccaggactcagccaagagcaacgggtttggttttaatgca
tctaccataataagttcaaaaaagtcacccagagtcttttccaggaaagatacctccaaa
atgtatataccgcacacagataaatccaatgacattaaacaagataagaggtttactgaa
aacagaaaacttggctcaacagcttcccttcctttcattcaggaacacagaacaccacca
tctttccccaggacagaccaaggttgtcaccaggaattaactgtaaataatgaagatatt
tcaagaattattacaaataaccactggagctctgcactgactgatactcaaaatgcacaa
tactcaaaatgcaagttaactcctggccacaagacctcgtgtgattctttagatctgtca
tcagctgcactaccagattcctcaccatcaaagaattcttcccttgatgctcctgtggtt
ccatctactacagtgttctccaggagaagtccttcagacaaagatccatcgctaggagaa
agagaagaaaaagacaatgctgggaagaaccaaaagaatcagtttattgtaagccactca
gaaaaccaagagagaaatgatagtcctgtgcctacacatgatgaagtggttgatgtcaaa
tgccattcacactctccttttaggaatgaaagaggaaaaggaaaaataaggcatcatata
tcctgtattgaaaagttaagcaaaacagaaagtatatcagtacccaccagtgatcacagg
agcctcattgaagcaaatcaaagcaattccaaagtttctgaacttgacacaatttattgt
accttgccaagaaaatcaagcagttttctcatacatggcaggcagtcaggaagtaaaata
atggctgcttcattgaggaatgggccacctcccttccaaatcaaaaataatgtggaagat
gcaatggggaactatatgttaaacaaatttagtcccagttctcctgagtcagcgaatgaa
tgttccaaagtcctttcagactcagccctggaagcacctgaagccacagagagaatgaca
aatgtaaaaagcagtggatctacttccgttagaaaaggaccacttccattcctcatcaac
agggctatgtcatgtccctcaggggagccacatgcctcaactggaagagaaggaagaaaa
aagccattgacctcaggcatggatgcttctgagctaacaccaagggcttgggagagaatc
attagccctgtggaaagtgactcatctgttagagattgttctttaaccaaaagacaacac
caaaaggaaaacttccaagaatacactgagaaagagggtaaaatggctgcctccaggaga
agtgtatttgctctttcaaatgaagaccctttacctttttgctcagacttgtcaggaaaa
gaacgtgggaaaacattacataaagttaagacgactagtacgttttctgtttctggtgat
gaagataatgtaaaatgtctggaggtggtctcaatatattacactctaccgaggaaaccc
agcaaaaaattctgtaacctccttcaacagtatacacaaaatactaatttacttatagaa
tcacctcaagtggagactgaaacatttcctaacgctttagaaaaagacaaacagaattat
tctacacgagagcagtcaggaacaccttcatgtgaaaatctaaagatgtccgtcaactct
gatcagacgctcaccactgaaaatatgactgccttccgattatcaaatagggggccccta
gctcctacattacaggaaatggcttctgttgaggcagctgtttctcttcctgaagaggaa
tctaaagctagagagattttttcagataatttagctaaaacacctctaggtgattcagaa
aacaagaaggaaagaggcaaaaagttgcaaagtgaaaccctgcatacttcattgatgctt
cagagaaaaaatgtatccgaagaaaaatctgaaaattgtcaacaatccattaattcaagt
aacagtggtccctctagtcttccagctctttcagaagttaatattggaaattcccaaact
agaagaagttcttgggagtgtacagggagtggtagagccattccatttactggaagtggc
aagtgtccccagaaagatcacacatccacagctgtaggtgatggctccagtggatcacag
cctagggaaggcagaggggacattggaaccaactgccaaaaaatgactaataaaacactt
tctcactcagagagtcaagtctttgcccttactccagcattgcataaactacagcttggt
gaggagactcagtcagatgaaccaaacttagagagtctgcagtctgaaccaagagaatta
cctcaaagaagtcaggaggcaaatatgacagagagcaggaaggctgaagatgaaatgcag
aagtcagcttgggatcaaccttcacttcctgaaggaaacaaaaataaaaccaacttggat
gacctagtaaagggggaaaatagatcttcagttaaacacagattggcagccatgtctaaa
gccagcagaaaattcccagctaaagatgtaagccccagaagacatgtagctactatcttc
ccccaaagtggaagcagatctggctttgaccatttatctcttggcacagtggagtgcaac
ccactgttccctgagcctactccaaaatctgcagagtccattggcgaaagcaggttgagt
gagaacggaaagcatgtgaagaaatccgagaaccttctccccattactgtactacccaac
agagaaccttctacacacgtcagcaaccagaagtctaacagcatttcacaacgacatcag
aatgagtttaaaaacgtctcagaatcaccatcaaagcatgagaattctaaagacgtcaca
gcagctcagaatttagtaagagaatcaggagccccatcacccatcacattcaccagcctc
agggaagcagaattctctgacaatcagaggaggctgagccctccttttccactggagcct
gcacagaaatctagagtaagcagtccactggccagttttctgcagcaacaaaggagtgct
tcatctctggagtgggaacctgagccacacctctatcgttcaaagagtttaaaaagcatt
aatgttcatggcgatctactacgaaaaagccatcctccaaaagtcagggagcgccatttt
tctgaaagcacttctattgacaatgccctgagtcgactgacccttgggaatgaattctct
gtcaacaatgggtacagtcgaagattcagatctttttctgaactcccctcctgtgatgga
aatgaaagttgggcttatcgcagcgggacaaaaacaggtcccaggtctgcaatatctata
tacagacctatcgactatgggatctttgggaaagaacaacagttagctttcttagaaaat
gtaaagaggtcacttacacaaggaagattatggaaaccaagttttcttaagaaccctggc
ttcctaaaagatgatttgaggaaccctcccaacccctcagagtcattaagctcaaattct
cccagtagtcaggtgccagaagatggcttatctccaagtgaaccgcttaatatctatgag
gatgacccagtggactcagattgtgacacagacacaaccacagatgatgaatactacctg
gatgaaaatgacaaagagtcagaactgtga

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