Property Summary

NCBI Gene PubMed Count 14
PubMed Score 41.44
PubTator Score 121.74

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
sonic hedgehog group medulloblastoma -1.200 0.000
medulloblastoma, large-cell -2.000 0.000
adult high grade glioma -1.400 0.000
ovarian cancer 1.800 0.000

Synonym

Accession Q96EK5 A8K5M8 Q9BR89 Q9ULE1 Q9Y428
Symbols KBP
TTC20
KIAA1279

Gene

Gene RIF (4)

PMID Text
24072599 A report on fetal cases with a homozygous mutation in KBP gene in a consanguineous Pakistani family with isolated polymicrogyria.
23427148 KBP-cytoskeleton interactions is involved in neuronal development in Goldberg-Shprintzen syndrome.
16385451 Observational study of gene-disease association. (HuGE Navigator)
16225668 KBP is a new binding partner for KIF1Balpha that is a regulator of its transport function and thus represents a new type of kinesin interacting protein.

AA Sequence

MANVPWAEVCEKFQAALALSRVELHKNPEKEPYKSKYSARALLEEVKALLGPAPEDEDERPEAEDGPGAG      1 - 70
DHALGLPAEVVEPEGPVAQRAVRLAVIEFHLGVNHIDTEELSAGEEHLVKCLRLLRRYRLSHDCISLCIQ     71 - 140
AQNNLGILWSEREEIETAQAYLESSEALYNQYMKEVGSPPLDPTERFLPEEEKLTEQERSKRFEKVYTHN    141 - 210
LYYLAQVYQHLEMFEKAAHYCHSTLKRQLEHNAYHPIEWAINAATLSQFYINKLCFMEARHCLSAANVIF    211 - 280
GQTGKISATEDTPEAEGEVPELYHQRKGEIARCWIKYCLTLMQNAQLSMQDNIGELDLDKQSELRALRKK    281 - 350
ELDEEESIRKKAVQFGTGELCDAISAVEEKVSYLRPLDFEEARELFLLGQHYVFEAKEFFQIDGYVTDHI    351 - 420
EVVQDHSALFKVLAFFETDMERRCKMHKRRIAMLEPLTVDLNPQYYLLVNRQIQFEIAHAYYDMMDLKVA    421 - 490
IADRLRDPDSHIVKKINNLNKSALKYYQLFLDSLRDPNKVFPEHIGEDVLRPAMLAKFRVARLYGKIITA    491 - 560
DPKKELENLATSLEHYKFIVDYCEKHPEAAQEIEVELELSKEMVSLLPTKMERFRTKMALT             561 - 621
//

Text Mined References (19)

PMID Year Title
24072599 2013 Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.
23427148 2013 KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21269460 2011 Initial characterization of the human central proteome.
20621975 2010 KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
16713569 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
16385451 2006 A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
More...