Property Summary

NCBI Gene PubMed Count 19
PubMed Score 4.61
PubTator Score 6.92

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q8TC44 G3V1X0
Symbols PIX1
CORD20
TUWD12
WDR51B

Gene

Gene RIF (7)

PMID Text
25044745 Study indicates that POC1B is required for retinal integrity, and is proposed POC1B mutations as a probable cause for Joubert syndrome with severe polycystic kidney disease.
25018096 POC1B mutations result in a defect of the photoreceptor sensory cilium and thus affect cone and rod photoreceptors.
24945461 POC1B is a novel gene for a new disease typical of cone-rod dystrophy except that patients did not report night blindness.
23015594 Poc1A and Poc1B play redundant, but essential, roles in generation of stable centrioles, but Poc1B may have additional independent functions during cell cycle progression.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20008567 Poc1B is required for primary ciliogenesis; Poc1 provides a molecular link between the assembly and stability of centrioles for ciliary-based motility in T. thermophila and cilia formation and function in zebrafish and humans
18068700 Based on these data, we propose that Pix1 and Pix2 are microtubule-associated adaptor proteins that likely contribute to a range of developmental and cell division processes.

AA Sequence

MASATEDPVLERYFKGHKAAITSLDLSPNGKQLATASWDTFLMLWNFKPHARAYRYVGHKDVVTSVQFSP      1 - 70
HGNLLASASRDRTVRLWIPDKRGKFSEFKAHTAPVRSVDFSADGQFLATASEDKSIKVWSMYRQRFLYSL     71 - 140
YRHTHWVRCAKFSPDGRLIVSCSEDKTIKIWDTTNKQCVNNFSDSVGFANFVDFNPSGTCIASAGSDQTV    141 - 210
KVWDVRVNKLLQHYQVHSGGVNCISFHPSGNYLITASSDGTLKILDLLEGRLIYTLQGHTGPVFTVSFSK    211 - 280
GGELFASGGADTQVLLWRTNFDELHCKGLTKRNLKRLHFDSPPHLLDIYPRTPHPHEEKVETVEINPKLE    281 - 350
VIDLQISTPPVMDILSFDSTTTTETSGRTLPDKGEEACGYFLNPSLMSPECLPTTTKKKTEDMSDLPCES    351 - 420
QRSIPLAVTDALEHIMEQLNVLTQTVSILEQRLTLTEDKLKDCLENQQKLFSAVQQKS                421 - 478
//

Text Mined References (21)

PMID Year Title
26638075 2015 A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface.
25044745 2014 Mutation of POC1B in a severe syndromic retinal ciliopathy.
25036637 2014 A quantitative chaperone interaction network reveals the architecture of cellular protein homeostasis pathways.
25018096 2014 Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.
24954895 2014 Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.
24945461 2014 Novel recessive cone-rod dystrophy caused by POC1B mutation.
23015594 2013 Poc1A and Poc1B act together in human cells to ensure centriole integrity.
21399614 2011 Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20008567 2009 Basal body stability and ciliogenesis requires the conserved component Poc1.
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