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Tbio Meckel syndrome type 1 protein

Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology.

The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

 Comments

Property Summary

NCBI Gene PubMed Count 24
PubMed Score 20.46
PubTator Score 48.61

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Polydactyly 106
Abnormality of the larynx 6
Abnormally small eyeball 94
Accessory spleen 7
Adrenal hypoplasia 12
Agenesis of corpus callosum 79
Ambiguous genitalia due to virilization 8
Ambiguous genitalia, female 8
Ambiguous genitalia, male 8
Anencephaly 26
Anus, Imperforate 43
Aortic coarctation 30
Aplasia/Hypoplasia of the iris 10
Apnea 45
Arnold Chiari Malformation 11
Autosomal recessive predisposition 1407
Bile duct proliferation 9
Biparietal narrowing 28
Bowing of the long bones 29
Breech Presentation 10
Cataract 290
Cerebellar Ataxia 302
Cerebellar Hypoplasia 61
Cerebellar vermis hypoplasia 24
Cerebral hypoplasia 3
Chorioretinal abnormality 21
Chubby cheeks 49
Cleft Lip 141
Cleft Palate 265
Cognitive delay 596
Coloboma of iris 37
Congenital absence of kidney 30
Congenital absence of spleen 9
Congenital cerebral hernia 20
Congenital clinodactyly 57
Congenital hypoplasia of lung 47
Congenital hypoplasia of ovary 30
Congenital hypoplasia of penis 168
Congenital malrotation of intestine 16
Congenital omphalocele 20
Corneal diameter decreased 46
Cryptorchidism 287
Curvature of digit 57
Dandy-Walker Syndrome 35
Decreased size of eyeball 94
Decreased width of the skull 28
Defective or absent horizontal voluntary eye movements 24
Depressed nasal ridge 48
Dull intelligence 634
Electroretinogram abnormal 94
Elevated amniotic fluid alpha-fetoprotein 3
Familial aplasia of the vermis 19
Feeding difficulties 127
Feeding difficulties in infancy 174
Fetal Growth Retardation 186
Fibular polydactyly 12
Full cheeks 49
Gait abnormality 129
Global developmental delay 596
Heart Septal Defects 23
Hepatic Fibrosis, Congenital 10
Hydrocephalus 148
Hyperplasia of cheeks 49
Hyperpnea, episodic 7
Hypertensive disease 278
Hypertrophy of cheeks 49
Hypogonadism 169
Hypoplastic bladder 2
Hypoplastic mandible condyle 273
Hypoplastic ovary 30
Increase in blood pressure 118
Infant, Small for Gestational Age 174
Intellectual disability 998
Intrauterine retardation 174
Large placenta 2
Lens Opacities 227
Lobar Holoprosencephaly 19
Lobulated tongue 4
Long face 71
Low intelligence 634
Low set ears 178
Low-set, posteriorly rotated ears 109
Macrostomia 70
Mandibular hypoplasia 273
Maternal oligohydramnios 29
Meckel-Gruber syndrome 13
Mental Retardation 634
Mental and motor retardation 596
Mental deficiency 634
Microcornea 46
Micrognathism 273
Microphthalmos 95
Molar tooth sign on MRI 12
Multicystic Dysplastic Kidney 51
Muscle hypotonia 562
Natal Teeth 9
Neck webbing 35
Nystagmus 309
Obesity 655
Occipital Encephalocele 10
Oculomotor apraxia 24
Olfactory lobe absence 6
Oligohydramnios 50
Optic Atrophy 239
Orbital separation diminished 23
Orbital separation excessive 240
Patent ductus arteriosus 86
Polycystic Kidney - body part 18
Polycystic Kidney Diseases 20
Polydactyly of toes 12
Poor school performance 634
Postaxial foot polydactyly 12
Puffy cheeks 49
Radially deviated fingers 38
Retinal Dystrophies 32
Retinitis Pigmentosa 223
Sclerocornea 29
Short neck 139
Short stature 514
Single umbilical artery 5
Sloping forehead 46
Small adrenal gland 12
Small genitalia 13
Small head 366
Splenomegaly 186
Syndactyly 88
Talipes 20
Talipes foot deformities 20
Ulnar polydactyly of fingers 46
Uranostaphyloschisis 162
Ureteral anomalies 5
Uterine Anomalies 4
Disease Target Count Z-score Confidence
Carcinoma 11192 0.0 0.9

Expression

  Differential Expression (7)

Disease log2 FC p
atypical teratoid / rhabdoid tumor 1.200 2.9e-06
ependymoma 1.100 2.6e-10
glioblastoma 1.100 5.5e-10
group 3 medulloblastoma 1.500 2.5e-06
lung cancer 1.200 1.4e-03
medulloblastoma, large-cell 1.600 3.5e-05
primitive neuroectodermal tumor 1.400 8.0e-06

Synonym

Accession Q9NXB0 B7WNX4 F5H885 Q284T0 Q96G13
Symbols MES
MKS
BBS13
POC12
JBTS28

Gene

MKS1

PANTHER Protein Class (1)

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 UniProt Keyword (16)

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 GO Component (7)

 GO Process (17)

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 Compartment GO Term (33)

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 IMPC Phenotype (2)

 OMIM Phenotype (3)

 MGI Phenotype (21)

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 GWAS Trait (2)

 HCA RNA Cell Line (56)

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Pathway (7)

Gene RIF (15)

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
//

Text Mined References (26)

PMID Year Title