MKS1
entrez
54903
canonical
uniprot
Q9NXB0
canonical
ensembl
ENSG00000011143
resolver
ensp
ENSP00000316631
resolver
ensp
ENSP00000376827
resolver
ensp
ENSP00000442096
resolver
ensp
ENSP00000462423
resolver
ensp
ENSP00000502984
resolver
ensp
ENSP00000786349
resolver
enst
ENST00000313863
resolver
enst
ENST00000580127
resolver
enst
ENST00000678463
resolver
genesymbol
MKS1
resolver
hgnc
HGNC:7121
resolver
uniprot
A0A7I2V2M0
resolver
uniprot
B4DVC5
resolver
uniprot
B7WNX4
resolver
uniprot
F5H885
resolver
uniprot
H0Y2S2
resolver
uniprot
J3KSC6
resolver
uniprot
Q284T0
resolver
uniprot
Q96G13
resolver
uniprot_entry
A0A7I2V2M0_HUMAN
resolver
uniprot_entry
B4DVC5_HUMAN
resolver
uniprot_entry
H0Y2S2_HUMAN
resolver
uniprot_entry
J3KSC6_HUMAN
resolver
uniprot_entry
MKS1_HUMAN
resolver
uniprot_sec
B7WNX4
resolver
uniprot_sec
F5H885
resolver
uniprot_sec
Q284T0
resolver
uniprot_sec
Q96G13
resolver
amino_acid_sequence
MAETVWSTDTGEAVYRSRDPVRNLRLRVHLQRITSSNFLHYQPAAELGKDLIDLATFRPQPTASGHRPEEDEEEEIVIGWQEKLFSQFEVDLYQNETACQSPLDYQYRQEILKLENSGGKKNRRIFTYTDSDRYTNLEEHCQRMTTAASEVPSFLVERMANVRRRRQDRRGMEGGILKSRIVTWEPSEEFVRNNHVINTPLQTMHIMADLGPYKKLGYKKYEHVLCTLKVDSNGVITVKPDFTGLKGPYRIETEGEKQELWKYTIDNVSPHAQPEEEERERRVFKDLYGRHKEYLSSLVGTDFEMTVPGALRLFVNGEVVSAQGYEYDNLYVHFFVELPTAHWSSPAFQQLSGVTQTCTTKSLAMDKVAHFSYPFTFEAFFLHEDESSDALPEWPVLYCEVLSLDFWQRYRVEGYGAVVLPATPGSHTLTVSTWRPVELGTVAELRRFFIGGSLELEDLSYVRIPGSFKGERLSRFGLRTETTGTVTFRLHCLQQSRAFMESSSLQKRMRSVLDRLEGFSQQSSIHNVLEAFRRARRRMQEARESLPQDLVSPSGTLVS
uniprot
proteins
disease_involvement
DISEASE: Meckel syndrome 1 (MKS1) [MIM:249000]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. {ECO:0000269|PubMed:16415886, ECO:0000269|PubMed:19466712, ECO:0000269|PubMed:26490104}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Bardet-Biedl syndrome 13 (BBS13) [MIM:615990]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269|PubMed:18327255}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Joubert syndrome 28 (JBTS28) [MIM:617121]: A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS28 inheritance is autosomal recessive. {ECO:0000269|PubMed:24886560}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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. {ECO:0000269|PubMed:17185389, ECO:0000269|PubMed:19515853, ECO:0000269|PubMed:26490104}.
uniprot
proteins
mass_dalton
64528
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16415886
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
17185389
uniprot
proteins
pubmed
18327255
uniprot
proteins
pubmed
19208769
uniprot
proteins
pubmed
19466712
uniprot
proteins
pubmed
19515853
uniprot
proteins
pubmed
22121117
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24886560
uniprot
proteins
pubmed
26490104
uniprot
proteins
pubmed
26595381
uniprot
proteins
pubmed
27377014
uniprot
proteins
sequence_length
559
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000269|PubMed:26490104}.
uniprot
proteins