Property Summary

NCBI Gene PubMed Count 19
Grant Count 9
R01 Count 8
Funding $1,052,323.5
PubMed Score 19.59
PubTator Score 48.61

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

 IMPC Term (1)

Gene RIF (13)

PMID Text
26490104 MKS1 functions in the transition zone at the base of the cilium to regulate ciliary INPP5E content.
24886560 describe four patients with mild Joubert phenotypes who carry pathogenic mutations in either MKS1 or B9D1, two genes previously implicated only in Meckel syndrome
21068128 Observational study of gene-disease association. (HuGE Navigator)
19515853 Kidney tissue and cells from MKS1 and MKS3 patients showed defects in centrosome and cilia number, including multi-ciliated respiratory-like epithelia, and longer cilia.
19208769 MKS-1 and MKS-1-related proteins 1 and 2 (MKSR-1, MKSR-2), localize to transition zones/basal bodies of sensory cilia; subcellular localization is largely co-dependent, pointing to a functional relationship between the proteins
18327255 Mutations in MKS1 is associated with Bardet-Biedl syndrome
17935508 Observational study of genotype prevalence. (HuGE Navigator)
17437276 Our results indicate that MKS1 mutations are not restricted to the Caucasian gene pool and suggest splicing defects are a crucial mutational mechanism in MKS1, and further genetic heterogeneity for MKS.
17397051 Observational study of genotype prevalence. (HuGE Navigator)
17397051 genotyping of MKS1 & MKS3 genes in a large, multiethnic cohort of 120 independent cases of Meckel syndrome; first results indicate that the MKS1 & MKS3 genes are each responsible for about 7% of MKS cases with various mutations in different populations
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AA Sequence

MAETVWSTDTGEAVYRSRDPVRNLRLRVHLQRITSSNFLHYQPAAELGKDLIDLATFRPQPTASGHRPEE      1 - 70
DEEEEIVIGWQEKLFSQFEVDLYQNETACQSPLDYQYRQEILKLENSGGKKNRRIFTYTDSDRYTNLEEH     71 - 140
CQRMTTAASEVPSFLVERMANVRRRRQDRRGMEGGILKSRIVTWEPSEEFVRNNHVINTPLQTMHIMADL    141 - 210
GPYKKLGYKKYEHVLCTLKVDSNGVITVKPDFTGLKGPYRIETEGEKQELWKYTIDNVSPHAQPEEEERE    211 - 280
RRVFKDLYGRHKEYLSSLVGTDFEMTVPGALRLFVNGEVVSAQGYEYDNLYVHFFVELPTAHWSSPAFQQ    281 - 350
LSGVTQTCTTKSLAMDKVAHFSYPFTFEAFFLHEDESSDALPEWPVLYCEVLSLDFWQRYRVEGYGAVVL    351 - 420
PATPGSHTLTVSTWRPVELGTVAELRRFFIGGSLELEDLSYVRIPGSFKGERLSRFGLRTETTGTVTFRL    421 - 490
HCLQQSRAFMESSSLQKRMRSVLDRLEGFSQQSSIHNVLEAFRRARRRMQEARESLPQDLVSPSGTLVS     491 - 559
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Publication (21)

PMID Year Title
26490104 2016 MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
24886560 2014 Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22121117 2012 A meckelin-filamin A interaction mediates ciliogenesis.
21068128 2011 Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
19515853 2009 Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.
19466712 2009 Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
19208769 2009 Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.
18337471 2008 Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis.
18327255 2008 Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
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