Property Summary

NCBI Gene PubMed Count 16
Grant Count 1
Funding $16,625
PubMed Score 18.47
PubTator Score 44.00

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
osteosarcoma -2.312 0.000
lung adenocarcinoma 1.500 0.000
Breast cancer 1.200 0.000
ovarian cancer 1.600 0.000
psoriasis 1.200 0.000

Synonym

Accession Q8NBT0 A4FUW4 E9PFC6 Q0VDF8 Q2TAK6 Q96IK6 Q9UFJ8
Symbols PIX2
SOFT
WDR51A

Gene

 Grant Application (1)

Gene RIF (6)

PMID Text
26336158 POC1A may be added to ALMS1 and PCNT as examples of centrosomal or pericentriolar proteins whose dysfunction leads to extreme dyslipidaemic insulin resistance.
26162852 Result identified a novel mutation in POC1A of patients with primordial dwarfism and showed that this mutation causes the formation of multiple numbers of centrioles and multipolar spindles with abnormal chromosome arrangement.
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.
22840364 POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.
22840363 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.
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

MAAPCAEDPSLERHFKGHRDAVTCVDFSINTKQLASGSMDSCLMVWHMKPQSRAYRFTGHKDAVTCVNFS      1 - 70
PSGHLLASGSRDKTVRIWVPNVKGESTVFRAHTATVRSVHFCSDGQSFVTASDDKTVKVWATHRQKFLFS     71 - 140
LSQHINWVRCAKFSPDGRLIVSASDDKTVKLWDKSSRECVHSYCEHGGFVTYVDFHPSGTCIAAAGMDNT    141 - 210
VKVWDVRTHRLLQHYQLHSAAVNGLSFHPSGNYLITASSDSTLKILDLMEGRLLYTLHGHQGPATTVAFS    211 - 280
RTGEYFASGGSDEQVMVWKSNFDIVDHGEVTKVPRPPATLASSMGNLPEVDFPVPPGRGRSVESVQSQPQ    281 - 350
EPVSVPQTLTSTLEHIVGQLDVLTQTVSILEQRLTLTEDKLKQCLENQQLIMQRATP                 351 - 407
//

Text Mined References (18)

PMID Year Title
26638075 2015 A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface.
26336158 2015 Truncation of POC1A associated with short stature and extreme insulin resistance.
26162852 2015 Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis.
25036637 2014 A quantitative chaperone interaction network reveals the architecture of cellular protein homeostasis pathways.
23015594 2013 Poc1A and Poc1B act together in human cells to ensure centriole integrity.
22840364 2012 POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.
22840363 2012 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.
21399614 2011 Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods.
20008567 2009 Basal body stability and ciliogenesis requires the conserved component Poc1.
19109428 2009 Molecular architecture of the centriole proteome: the conserved WD40 domain protein POC1 is required for centriole duplication and length control.
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