Homo sapiens (human): 8496
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
SAM_1
SAM_2
DUF16
Crescentin
HrpB7
DUF4407
Motif
Other DBs
NCBI-GeneID:
8496
NCBI-ProteinID:
NP_803193
OMIM:
603141
HGNC:
9249
Ensembl:
ENSG00000110841
UniProt:
Q86W92
LinkDB
All DBs
Position
12:27524206..27695564
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AA seq
1011 aa
AA seq
DB search
MMSDASDMLAAALEQMDGIIAGSKALEYSNGIFDCQSPTSPFMGSLRALHLVEDLRGLLE
MMETDEKEGLRCQIPDSTAETLVEWLQSQMTNGHLPGNGDVYQERLARLENDKESLVLQV
SVLTDQVEAQGEKIRDLEFCLEEHREKVNATEEMLQQELLSRTSLETQKLDLMAEISNLK
LKLTAVEKDRLDYEDKFRDTEGLIQEINDLRLKVSEMDSERLQYEKKLKSTKSLMAKLSS
MKIKVGQMQYEKQRMEQKWESLKDELASLKEQLEEKESEVKRLQEKLVCKMKGEGVEIVD
RDIEVQKMKKAVESLMAANEEKDRKIEDLRQCLNRYKKMQDTVVLAQGKDGEYEELLNSS
SISSLLDAQGFSDLEKSPSPTPVMGSPSCDPFNTSVPEEFHTTILQVSIPSLLPATVSME
TSEKSKLTPKPETSFEENDGNIILGATVDTQLCDKLLTSSLQKSSSLGNLKKETSDGEKE
TIQKTSEDRAPAESRPFGTLPPRPPGQDTSMDDNPFGTRKVRSSFGRGFFKIKSNKRTAS
APNLAETEKETAEHLDLAGASSRPKDSQRNSPFQIPPPSPDSKKKSRGIMKLFGKLRRSQ
STTFNPDDMSEPEFKRGGTRATAGPRLGWSRDLGQSNSDLDMPFAKWTKEQVCNWLMEQG
LGSYLNSGKHWIASGQTLLQASQQDLEKELGIKHSLHRKKLQLALQALGSEEETNHGKLD
FNWVTRWLDDIGLPQYKTQFDEGRVDGRMLHYMTVDDLLSLKVVSVLHHLSIKRAIQVLR
INNFEPNCLRRRPSDENTIAPSEVQKWTNHRVMEWLRSVDLAEYAPNLRGSGVHGGLMVL
EPRFNVETMAQLLNIPPNKTLLRRHLATHFNLLIGAEAQHQKRDAMELPDYVLLTATAKV
KPKKLAFSNFGNLRKKKQEDGEEYVCPMELGQASGSASKKGFKPGLDMRLYEEDDLDRLE
QMEDSEGTVRQIGAFSEGINNLTHMLKEDDMFKDFAARSPSASITDEDSNV
NT seq
3036 nt
NT seq
+upstream
nt +downstream
nt
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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