MKS1 (MKS transition zone complex subunit 1)

2018-11-01  

Identity

HGNC
MKS1
LOCATION
17q22
LOCUSID
54903
ALIAS
BBS13,JBTS28,MES,MKS,POC12
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54903
MIM: 609883
HGNC: 7121
Ensembl: ENSG00000011143

Variants:

dbSNP: 54903
ClinVar: 54903
TCGA: ENSG00000011143
COSMIC: MKS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000011143ENST00000313863H0Y2S2
ENSG00000011143ENST00000393119Q9NXB0
ENSG00000011143ENST00000393120J9PBQ5
ENSG00000011143ENST00000537529Q9NXB0
ENSG00000011143ENST00000577315J3KRV5
ENSG00000011143ENST00000577824J3KSF4
ENSG00000011143ENST00000578789J3KSB7
ENSG00000011143ENST00000580127J3KSC6
ENSG00000011143ENST00000581761J3KRR3
ENSG00000011143ENST00000585134J3QQP4

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912
Signal TransductionREACTOMER-HSA-162582
Signaling by HedgehogREACTOMER-HSA-5358351
Hedgehog 'off' stateREACTOMER-HSA-5610787

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
183272552008Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.183
171853892007The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.114
164158862006MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.83
195158532009Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.69
210681282011Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.60
173970512007Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.42
173970512007Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.42
192087692009Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.35
173778202007Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.34
248865602014Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.21

Citation

Dessen P

MKS1 (MKS transition zone complex subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/57692/mks1