Property Summary

NCBI Gene PubMed Count 17
Grant Count 7
R01 Count 7
Funding $418,398
PubMed Score 24.50
PubTator Score 6.87

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma -1.236 0.000
lung cancer 1.200 0.001

Gene RIF (7)

PMID Text
26386247 The authors demonstrate KIAA0586 protein localization at the basal body in human and mouse photoreceptors, as is common for Joubert syndrome proteins, and also in pericentriolar locations.
26386044 biallelic deleterious mutations in KIAA0586 lead to Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.
26166481 Mutations in KIAA0586 cause lethal ciliopathies ranging from a hydrolethalus phenotype to short-rib polydactyly syndrome.
26096313 we show that biallelic KIAA0586 mutations are associated with relatively mild JS in square2.5% of families with JS.
26026149 Intersection of this data with whole exome results from 145 individuals with unexplained Joubert syndrome identified six families with predominantly compound heterozygous mutations in KIAA0586.
24421332 Talpid3 and Cep290 play overlapping and distinct roles in ciliary vesicle formation through regulation of centriolar satellite accretion and Rab8a
16702409 The chicken ortholog functions in regulation of the Gli repressor and activator proteins in the Hedgehog signaling pathway.

AA Sequence

MPVKRLREVVSQNHGDHLVLLKDELPCVPPALSANKRLPVGTGTSLNGTSRGSSDLTSARNCYQPLLENP      1 - 70
MVSESDFSKDVAVQVLPLDKIEENNKQKANDIFISQYTMGQKDALRTVLKQKAQSMPVFKEVKVHLLEDA     71 - 140
GIEKDAVTQETRISPSGIDSATTVAAATAAAIATAAPLIKVQSDLEAKVNSVTELLSKLQETDKHLQRVT    141 - 210
EQQTSIQRKQEKLHCHDHEKQMNVFMEQHIRHLEKLQQQQIDIQTHFISAALKTSSFQPVSMPSSRAVEK    211 - 280
YSVKPEHPNLGSCNPSLYNTFASKQAPLKEVEDTSFDKQKSPLETPAPRRFAPVPVSRDDELSKRENLLE    281 - 350
EKENMEVSCHRGNVRLLEQILNNNDSLTRKSESSNTTSLTRSKIGWTPEKTNRFPSCEELETTKVTMQKS    351 - 420
DDVLHDLGQKEKETNSMVQPKESLSMLKLPDLPQNSVKLQTTNTTRSVLKDAEKILRGVQNNKKVLEENL    421 - 490
EAIIRAKDGAAMYSLINALSTNREMSEKIRIRKTVDEWIKTISAEIQDELSRTDYEQKRFDQKNQRTKKG    491 - 560
QNMTKDIRTNTQDKTVNKSVIPRKHSQKQIEEHFRNLPMRGMPASSLQKERKEGLLKATTVIQDEDYMLQ    561 - 630
VYGKPVYQGHRSTLKKGPYLRFNSPSPKSRPQRPKVIERVKGTKVKSIRTQTDFYATKPKKMDSKMKHSV    631 - 700
PVLPHGDQQYLFSPSREMPTFSGTLEGHLIPMAILLGQTQSNSDTMPPAGVIVSKPHPVTVTTSIPPSSR    701 - 770
KVETGVKKPNIAIVEMKSEKKDPPQLTVQVLPSVDIDSISNSSADVLSPLSSPKEASLPPVQTWIKTPEI    771 - 840
MKVDEEEVKFPGTNFDEIIDVIQEEEKCDEIPDSEPILEFNRSVKADSTKYNGPPFPPVASTFQPTADIL    841 - 910
DKVIERKETLENSLIQWVEQEIMSRIISGLFPVQQQIAPSISVSVSETSEPLTSDIVEGTSSGALQLFVD    911 - 980
AGVPVNSNVIKHFVNEALAETIAVMLGDREAKKQGPVATGVSGDASTNETYLPARVCTPLPTPQPTPPCS    981 - 1050
PSSPAKECVLVKTPDSSPCDSDHDMAFPVKEICAEKGDDMPAIMLVNTPTVTPTTTPPPAAAVFTPTLSD   1051 - 1120
ISIDKLKVSSPELPKPWGDGDLPLEEENPNSPQEELHPRAIVMSVAKDEEPESMDFPAQPPPPEPVPFMP   1121 - 1190
FPAGTKAPSPSQMPGSDSSTLESTLSVTVTETETLDKPISEGEILFSCGQKLAPKILEDIGLYLTNLNDS   1191 - 1260
LSSTLHDAVEMEDDPPSEGQVIRMSHKKFHADAILSFAKQNQESAVSQQAVYHSEDLENSVGELSEGQRP   1261 - 1330
QLTAAAENILMGHSLYMQPPVTNTQSLDQQCDPKPLSRQFDTVSGSIYEDSCASHGPMSLGELELEPNSK   1331 - 1400
LVLPTTLLTAQENDVNLPVAAEDFSQYQLKQNQDVKQVEHKPSQSYLRVRNKSDIAPSQQQVSPGDMDRT   1401 - 1470
QIELNPYLTCVFSGGKAVPLSASQMPPAKMSVMLPSVNLEDCSQSLSLSTMQEDMESSGADTF          1471 - 1533
//

Text Mined References (21)

PMID Year Title
27146717 2016 Tethering of an E3 ligase by PCM1 regulates the abundance of centrosomal KIAA0586/Talpid3 and promotes ciliogenesis.
26429889 2015 A human laterality disorder caused by a homozygous deleterious mutation in MMP21.
26386247 2015 TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).
26386044 2015 Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.
26166481 2015 Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
26096313 2015 KIAA0586 is Mutated in Joubert Syndrome.
26026149 2015 Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
24421332 2014 The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21399614 2011 Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods.
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