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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 107
Abnormality of the larynx 6
Abnormally small eyeball 97
Accessory spleen 7
Adrenal hypoplasia 12
Agenesis of corpus callosum 83
Ambiguous genitalia due to virilization 9
Ambiguous genitalia, female 9
Ambiguous genitalia, male 9
Anencephaly 26
Anus, Imperforate 46
Aortic coarctation 30
Aplasia/Hypoplasia of the iris 10
Apnea 45
Arnold Chiari Malformation 11
Autosomal recessive predisposition 1442
Bile duct proliferation 9
Biparietal narrowing 28
Bowing of the long bones 31
Breech Presentation 10
Cataract 297
Cerebellar Ataxia 304
Cerebellar Hypoplasia 61
Cerebellar vermis hypoplasia 24
Cerebral hypoplasia 3
Chorioretinal abnormality 21
Chubby cheeks 50
Cleft Lip 141
Cleft Palate 271
Cognitive delay 608
Coloboma of iris 38
Congenital absence of kidney 31
Congenital absence of spleen 10
Congenital cerebral hernia 21
Congenital clinodactyly 57
Congenital hypoplasia of lung 48
Congenital hypoplasia of ovary 30
Congenital hypoplasia of penis 176
Congenital malrotation of intestine 16
Congenital omphalocele 20
Corneal diameter decreased 47
Cryptorchidism 296
Curvature of digit 57
Dandy-Walker Syndrome 39
Decreased size of eyeball 97
Decreased width of the skull 28
Defective or absent horizontal voluntary eye movements 25
Depressed nasal ridge 51
Dull intelligence 645
Electroretinogram abnormal 95
Elevated amniotic fluid alpha-fetoprotein 3
Familial aplasia of the vermis 19
Feeding difficulties 127
Feeding difficulties in infancy 175
Fetal Growth Retardation 189
Fibular polydactyly 12
Full cheeks 50
Gait abnormality 135
Global developmental delay 608
Heart Septal Defects 24
Hepatic Fibrosis, Congenital 10
Hydrocephalus 152
Hyperplasia of cheeks 50
Hyperpnea, episodic 7
Hypertensive disease 292
Hypertrophy of cheeks 50
Hypogonadism 173
Hypoplastic bladder 3
Hypoplastic mandible condyle 275
Hypoplastic ovary 30
Increase in blood pressure 119
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intrauterine retardation 176
Large placenta 2
Lens Opacities 231
Lobar Holoprosencephaly 20
Lobulated tongue 4
Long face 71
Low intelligence 645
Low set ears 181
Low-set, posteriorly rotated ears 110
Macrostomia 72
Mandibular hypoplasia 275
Maternal oligohydramnios 31
Meckel-Gruber syndrome 13
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Microcornea 47
Micrognathism 275
Microphthalmos 100
Molar tooth sign on MRI 12
Multicystic Dysplastic Kidney 52
Muscle hypotonia 571
Natal Teeth 9
Neck webbing 35
Nystagmus 317
Obesity 678
Occipital Encephalocele 10
Oculomotor apraxia 25
Olfactory lobe absence 6
Oligohydramnios 52
Optic Atrophy 242
Orbital separation diminished 23
Orbital separation excessive 244
Patent ductus arteriosus 90
Polycystic Kidney - body part 18
Polycystic Kidney Diseases 20
Polydactyly of toes 12
Poor school performance 645
Postaxial foot polydactyly 12
Puffy cheeks 50
Radially deviated fingers 38
Retinal Dystrophies 33
Retinitis Pigmentosa 226
Sclerocornea 29
Short neck 140
Short stature 531
Single umbilical artery 5
Sloping forehead 46
Small adrenal gland 12
Small genitalia 13
Small head 374
Splenomegaly 190
Syndactyly 88
Talipes 20
Talipes foot deformities 20
Ulnar polydactyly of fingers 47
Uranostaphyloschisis 167
Ureteral anomalies 5
Uterine Anomalies 5
Disease Target Count Z-score Confidence
Carcinoma 11493 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