KEGG   Homo sapiens (human): 8496
Entry
8496              CDS       T01001                                 
Symbol
PPFIBP1, L2, NEDSMBA, SGT2, hSGT2, hSgt2p
Name
(RefSeq) PPFIA binding protein 1
  KO
K27096  liprin-beta
Organism
hsa  Homo sapiens (human)
Disease
H02461  Neurodevelopmental disorder with microcephaly
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    8496 (PPFIBP1)
Membrane trafficking [BR:hsa04131]
 Exocytosis
  Small GTPases and associated proteins
   Rab associated proteins
    8496 (PPFIBP1)
SSDB
Motif
Pfam: SAM_1 SAM_2 DUF16 Crescentin HrpB7 DUF4407
Other DBs
NCBI-GeneID: 8496
NCBI-ProteinID: NP_803193
OMIM: 603141
HGNC: 9249
Ensembl: ENSG00000110841
UniProt: Q86W92
LinkDB
Position
12:27524206..27695564
AA seq 1011 aa
MMSDASDMLAAALEQMDGIIAGSKALEYSNGIFDCQSPTSPFMGSLRALHLVEDLRGLLE
MMETDEKEGLRCQIPDSTAETLVEWLQSQMTNGHLPGNGDVYQERLARLENDKESLVLQV
SVLTDQVEAQGEKIRDLEFCLEEHREKVNATEEMLQQELLSRTSLETQKLDLMAEISNLK
LKLTAVEKDRLDYEDKFRDTEGLIQEINDLRLKVSEMDSERLQYEKKLKSTKSLMAKLSS
MKIKVGQMQYEKQRMEQKWESLKDELASLKEQLEEKESEVKRLQEKLVCKMKGEGVEIVD
RDIEVQKMKKAVESLMAANEEKDRKIEDLRQCLNRYKKMQDTVVLAQGKDGEYEELLNSS
SISSLLDAQGFSDLEKSPSPTPVMGSPSCDPFNTSVPEEFHTTILQVSIPSLLPATVSME
TSEKSKLTPKPETSFEENDGNIILGATVDTQLCDKLLTSSLQKSSSLGNLKKETSDGEKE
TIQKTSEDRAPAESRPFGTLPPRPPGQDTSMDDNPFGTRKVRSSFGRGFFKIKSNKRTAS
APNLAETEKETAEHLDLAGASSRPKDSQRNSPFQIPPPSPDSKKKSRGIMKLFGKLRRSQ
STTFNPDDMSEPEFKRGGTRATAGPRLGWSRDLGQSNSDLDMPFAKWTKEQVCNWLMEQG
LGSYLNSGKHWIASGQTLLQASQQDLEKELGIKHSLHRKKLQLALQALGSEEETNHGKLD
FNWVTRWLDDIGLPQYKTQFDEGRVDGRMLHYMTVDDLLSLKVVSVLHHLSIKRAIQVLR
INNFEPNCLRRRPSDENTIAPSEVQKWTNHRVMEWLRSVDLAEYAPNLRGSGVHGGLMVL
EPRFNVETMAQLLNIPPNKTLLRRHLATHFNLLIGAEAQHQKRDAMELPDYVLLTATAKV
KPKKLAFSNFGNLRKKKQEDGEEYVCPMELGQASGSASKKGFKPGLDMRLYEEDDLDRLE
QMEDSEGTVRQIGAFSEGINNLTHMLKEDDMFKDFAARSPSASITDEDSNV
NT seq 3036 nt   +upstreamnt  +downstreamnt
atgatgagtgatgcaagtgacatgttggctgcagcgttggagcagatggatggtatcata
gcaggttctaaggctctggaatattccaatgggatttttgattgccaatctcccacctct
ccattcatgggaagtttgcgagctctgcaccttgtggaagacctgcgtggattgttagag
atgatggaaacagatgagaaagaaggcttgagatgccagatcccagattcaacagcagaa
acgcttgttgaatggcttcagagtcaaatgacaaatggacacctaccagggaacggagat
gtgtatcaagaaaggctggcacgtttagaaaatgataaagaatccctcgttcttcaggta
agtgtgttaacagaccaggtggaggctcagggagagaagattcgagatttggagttttgt
cttgaagagcacagagagaaggtgaatgccacagaagaaatgctgcagcaggagcttcta
agtaggacatccttagaaactcagaagttggatctgatggctgaaatatctaacttgaag
ttgaaactgacagctgtagagaaggacagattggattatgaagataagttcagagacaca
gaggggctgattcaggagatcaatgatttgaggttaaaagttagtgaaatggacagtgag
agacttcagtatgaaaaaaagcttaaatcaaccaaatctttaatggccaaactttctagc
atgaaaatcaaggtgggtcagatgcagtatgaaaagcagcggatggaacaaaaatgggag
tcactgaaggatgaactggcatctttaaaagaacaactagaagaaaaggaatctgaagta
aaaaggctacaagaaaaattggtttgcaagatgaaaggagaaggggttgaaattgttgat
agagacatcgaagtacaaaaaatgaaaaaagctgtggagtccttgatggcagcaaatgaa
gaaaaggatcggaaaatagaagatcttcgacagtgcctgaacaggtacaagaaaatgcaa
gacacggtggtactggcccaaggcaaagatggagaatatgaagagctgctcaattccagt
tccatctcctctttgctggatgcacagggtttcagtgatctggagaaaagtccatcaccc
actccagtaatgggatctcccagttgtgacccatttaacacaagtgttcccgaagagttc
catactaccatcttgcaagtttccatcccttcattattgccagcaactgtaagcatggaa
acttctgaaaaatcaaagttgactcctaagccagagacttcatttgaagaaaatgatgga
aacataatccttggtgccactgttgatacccaactgtgtgataaacttttaacttcaagt
ctgcagaagtccagcagcctgggcaatctgaagaaagagacatctgatggggaaaaggaa
actattcagaagacttcagaggacagagctccggcagaaagcaggccatttgggaccctt
cctcccaggcccccagggcaggacacctccatggatgacaaccccttcggcactcgaaaa
gtcagatcttcctttggccggggcttttttaaaatcaaaagtaacaagagaacagcaagt
gcaccaaacttagctgaaacagaaaaagagacagcagagcacctagatctggctggtgct
tcttctcggccaaaagattcacagaggaacagtcccttccagataccgcctccatctcca
gattccaaaaagaaatccagaggtatcatgaaactctttggaaaacttaggagaagtcaa
tcaactacattcaacccagatgacatgtctgagcctgaattcaaaagaggagggacaagg
gcaaccgcggggccccgattaggttggtctcgagacttgggacagtctaacagtgacttg
gatatgccatttgccaagtggaccaaggagcaggtttgcaattggctgatggaacagggc
ttgggctcgtacctgaattctggcaagcactggattgcatctggccaaacgcttttgcag
gcttctcaacaagatctagagaaggaacttggaatcaagcattcacttcatcgaaagaaa
ctccagctagcactccaagccctgggatctgaagaagaaaccaatcatgggaagctggat
ttcaactgggtcactagatggttggatgacattggcctccctcaatataagacccagttt
gatgaaggacgggttgatggtcgaatgctacattacatgactgttgatgacttactgtct
ctgaaggttgtaagtgtgctacaccatctcagtatcaaaagggccatccaggtcctgagg
atcaataactttgaaccaaactgtctacggaggcggccatctgatgagaataccatcgcc
ccatcagaagttcagaagtggactaaccatcgagtgatggagtggctgcgctccgtggac
ttggcagaatatgcgcccaatctcagaggcagtggtgtccatggtgggctcatggttcta
gagcctcgttttaacgtagaaacaatggctcagttattgaacatcccacccaataagact
ttgctgcgaagacatttggccactcatttcaaccttctgattggggctgaggcacagcac
cagaagcgagatgccatggagctgccggattatgtacttctaacagctactgccaaagtg
aagccaaagaaacttgcctttagcaattttgggaatttgagaaagaagaaacaggaagat
ggtgaagaatatgtttgtccaatggaattgggacaggcatcaggaagtgcatctaagaaa
ggatttaaacctggtttggatatgcgcctgtatgaggaagatgatttggaccggttagag
cagatggaagattcagaagggacagtgagacagataggtgcattctctgaaggcatcaac
aatctgacgcacatgttaaaagaagatgacatgtttaaagattttgctgcccgttccccc
agtgccagcattacagatgaagactcaaacgtttga

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