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FLASH GENE

Symbol

MKS1

contributors: npt/mct/pgu - updated : 24-08-2017

HGNC name	Meckel syndrome, type 1
HGNC id	7121

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_017777 18 - 2408 NP_060247 - 559 - 2016 26490104 NM_001165927 18 - 2397 NP_001159399 - 549 - 2016 26490104 NM_001321269 17 - 2325 NP_001308198 - 561 - 2016 26490104 NM_001321268 17 - 2310 NP_001308197 - 356 - 2016 26490104 NM_001330397 - - 2191 NP_001317326 - 456 - 2016 26490104

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive gallbladder           pharynx       highly Endocrine adrenal gland       highly Nervous brain         Reproductive female system uterus cervix   highly Urinary kidney tubule convoluted tubule proximal tubule

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly Epithelial absorptive excretory renal tubular epithelium

cells

System Cell Pubmed Species Stage Rna symbol Digestive epithelial cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		globular
STRUCTURE

motifs/domains

a conserved B9 domain

HOMOLOGY

interspecies

homolog to murine Mks1

Homologene

FAMILY

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
text	localize to transition zones/basal bodies of sensory cilia

basic FUNCTION	mediating a fundamental developmental stage of ciliary formation and epithelial morphogenesis
	function redundantly with the nephrocystins to regulate the formation and/or maintenance of cilia and dendrites in the amphid and phasmid ciliated sensory neurons
	required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication
	protein associated with the base of the cilium in vertebrates and nematodes
	having a role in basal body anchoring and establishing a ciliary gate during ciliogenesis
	critical for ciliogenesis, spheroid formation, and Hh signaling
	play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RHOA levels
	TMEM231 and B9D1 are essential for each other and other complex components such as MKS1 to localize to the transition zone

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

component of the flagellar apparatus basal body proteome

INTERACTION

DNA

RNA

small molecule

protein	interacting with meckelin, a putative receptor
	functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (B9D1, B9D2) proteins
	MKS1 functions in the transition zone at the base of the cilium to regulate ciliary INPP5E content, through an ARL13B-dependent mechanism
	genetic interaction of MKS1 with components of intraflagellar transport (IFT) machinery suggests that the transition zone complex facilitates IFT to promote cilium assembly and structure

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MKS1 , BBS13 , JBTS28

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS