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Protein

Meckel syndrome type 1 protein

Gene

MKS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.2 Publications

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

ReactomeiR-HSA-5610787. Hedgehog 'off' state.
R-HSA-5620912. Anchoring of the basal body to the plasma membrane.

Names & Taxonomyi

Protein namesi
Recommended name:
Meckel syndrome type 1 protein
Gene namesi
Name:MKS1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:7121. MKS1.

Subcellular locationi

GO - Cellular componenti

  • centriole Source: Ensembl
  • centrosome Source: UniProtKB
  • ciliary basal body Source: UniProtKB
  • cytoplasm Source: UniProtKB
  • cytosol Source: Reactome
  • membrane Source: Ensembl
  • MKS complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Meckel syndrome 1 (MKS1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:249000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_062288166R → W in MKS1; unknown pathological significance. 1 PublicationCorresponds to variant rs201845154dbSNPEnsembl.1
Bardet-Biedl syndrome 13 (BBS13)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. 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.
See also OMIM:615990
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_062290371Missing in BBS13. 1 Publication1
Natural variantiVAR_062292492C → W in BBS13. 1 PublicationCorresponds to variant rs137853105dbSNPEnsembl.1

Keywords - Diseasei

Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Meckel syndrome, Mental retardation, Obesity

Organism-specific databases

DisGeNETi54903.
MalaCardsiMKS1.
MIMi249000. phenotype.
615990. phenotype.
OpenTargetsiENSG00000011143.
Orphaneti110. Bardet-Biedl syndrome.
475. Joubert syndrome.
220493. Joubert syndrome with ocular defect.
564. Meckel syndrome.
PharmGKBiPA30840.

Polymorphism and mutation databases

BioMutaiMKS1.
DMDMi92087008.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002256861 – 559Meckel syndrome type 1 proteinAdd BLAST559

Proteomic databases

EPDiQ9NXB0.
MaxQBiQ9NXB0.
PaxDbiQ9NXB0.
PeptideAtlasiQ9NXB0.
PRIDEiQ9NXB0.

PTM databases

iPTMnetiQ9NXB0.
PhosphoSitePlusiQ9NXB0.

Expressioni

Gene expression databases

BgeeiENSG00000011143.
CleanExiHS_MKS1.
ExpressionAtlasiQ9NXB0. baseline and differential.
GenevisibleiQ9NXB0. HS.

Organism-specific databases

HPAiHPA021372.
HPA021812.

Interactioni

Subunit structurei

Part of the tectonic-like complex (also named B9 complex) (By similarity). Interacts with TCTN3 and AHI1 (By similarity). Interacts with FLNA.By similarity2 Publications

Protein-protein interaction databases

BioGridi120249. 81 interactors.
DIPiDIP-56251N.
IntActiQ9NXB0. 57 interactors.
MINTiMINT-1415211.
STRINGi9606.ENSP00000376827.

Structurei

3D structure databases

ProteinModelPortaliQ9NXB0.
SMRiQ9NXB0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini311 – 439B9PROSITE-ProRule annotationAdd BLAST129

Sequence similaritiesi

Contains 1 B9 domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG4446. Eukaryota.
ENOG410XP3Z. LUCA.
GeneTreeiENSGT00510000047471.
HOGENOMiHOG000251592.
HOVERGENiHBG079759.
InParanoidiQ9NXB0.
KOiK19332.
OMAiTFKGERL.
OrthoDBiEOG091G0BGX.
PhylomeDBiQ9NXB0.
TreeFamiTF323812.

Family and domain databases

InterProiIPR010796. B9_dom.
[Graphical view]
PfamiPF07162. B9-C2. 1 hit.
[Graphical view]
PROSITEiPS51381. B9. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NXB0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAETVWSTDT GEAVYRSRDP VRNLRLRVHL QRITSSNFLH YQPAAELGKD
60 70 80 90 100
LIDLATFRPQ PTASGHRPEE DEEEEIVIGW QEKLFSQFEV DLYQNETACQ
110 120 130 140 150
SPLDYQYRQE ILKLENSGGK KNRRIFTYTD SDRYTNLEEH CQRMTTAASE
160 170 180 190 200
VPSFLVERMA NVRRRRQDRR GMEGGILKSR IVTWEPSEEF VRNNHVINTP
210 220 230 240 250
LQTMHIMADL GPYKKLGYKK YEHVLCTLKV DSNGVITVKP DFTGLKGPYR
260 270 280 290 300
IETEGEKQEL WKYTIDNVSP HAQPEEEERE RRVFKDLYGR HKEYLSSLVG
310 320 330 340 350
TDFEMTVPGA LRLFVNGEVV SAQGYEYDNL YVHFFVELPT AHWSSPAFQQ
360 370 380 390 400
LSGVTQTCTT KSLAMDKVAH FSYPFTFEAF FLHEDESSDA LPEWPVLYCE
410 420 430 440 450
VLSLDFWQRY RVEGYGAVVL PATPGSHTLT VSTWRPVELG TVAELRRFFI
460 470 480 490 500
GGSLELEDLS YVRIPGSFKG ERLSRFGLRT ETTGTVTFRL HCLQQSRAFM
510 520 530 540 550
ESSSLQKRMR SVLDRLEGFS QQSSIHNVLE AFRRARRRMQ EARESLPQDL

VSPSGTLVS
Length:559
Mass (Da):64,528
Last modified:March 7, 2006 - v2
Checksum:i3E4EBFDAFA8FB39D
GO
Isoform 2 (identifier: Q9NXB0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     471-559: ERLSRFGLRT...LVSPSGTLVS → LSSSKTKEGR...RLRYELFLSK

Note: No experimental confirmation available.
Show »
Length:520
Mass (Da):59,869
Checksum:i505F4279EB7A9E35
GO
Isoform 3 (identifier: Q9NXB0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-26: MAETVWSTDTGEAVYRSRDPVRNLRL → MAVPVSSFAQRTRSRF

Note: No experimental confirmation available.
Show »
Length:549
Mass (Da):63,344
Checksum:i6760801F0209F8A5
GO

Sequence cautioni

The sequence AAH10061 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA91105 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06016139L → F.Corresponds to variant rs11653070dbSNPEnsembl.1
Natural variantiVAR_062287123R → Q.1 PublicationCorresponds to variant rs202112856dbSNPEnsembl.1
Natural variantiVAR_062288166R → W in MKS1; unknown pathological significance. 1 PublicationCorresponds to variant rs201845154dbSNPEnsembl.1
Natural variantiVAR_062289286D → G.1 PublicationCorresponds to variant rs151023718dbSNPEnsembl.1
Natural variantiVAR_062290371Missing in BBS13. 1 Publication1
Natural variantiVAR_062291450I → T.1 PublicationCorresponds to variant rs200865108dbSNPEnsembl.1
Natural variantiVAR_062292492C → W in BBS13. 1 PublicationCorresponds to variant rs137853105dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0460631 – 26MAETV…RNLRL → MAVPVSSFAQRTRSRF in isoform 3. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_017414471 – 559ERLSR…GTLVS → LSSSKTKEGRKVDGERVLNP QPVSLSLFPGKPHSTAWGLL RLRYELFLSK in isoform 2. 1 PublicationAdd BLAST89

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ185029 mRNA. Translation: AAZ94714.1.
AK000352 mRNA. Translation: BAA91105.1. Different initiation.
AK310815 mRNA. No translation available.
AC005962 Genomic DNA. No translation available.
BC010061 mRNA. Translation: AAH10061.1. Different initiation.
CR457229 mRNA. Translation: CAG33510.1.
CCDSiCCDS11603.2. [Q9NXB0-1]
CCDS54148.1. [Q9NXB0-3]
RefSeqiNP_001159399.1. NM_001165927.1. [Q9NXB0-3]
NP_001308197.1. NM_001321268.1.
NP_001308198.1. NM_001321269.1.
NP_060247.2. NM_017777.3. [Q9NXB0-1]
XP_016880294.1. XM_017024805.1.
UniGeneiHs.408843.

Genome annotation databases

EnsembliENST00000393119; ENSP00000376827; ENSG00000011143. [Q9NXB0-1]
ENST00000537529; ENSP00000442096; ENSG00000011143. [Q9NXB0-3]
GeneIDi54903.
KEGGihsa:54903.
UCSCiuc002ivr.3. human. [Q9NXB0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ185029 mRNA. Translation: AAZ94714.1.
AK000352 mRNA. Translation: BAA91105.1. Different initiation.
AK310815 mRNA. No translation available.
AC005962 Genomic DNA. No translation available.
BC010061 mRNA. Translation: AAH10061.1. Different initiation.
CR457229 mRNA. Translation: CAG33510.1.
CCDSiCCDS11603.2. [Q9NXB0-1]
CCDS54148.1. [Q9NXB0-3]
RefSeqiNP_001159399.1. NM_001165927.1. [Q9NXB0-3]
NP_001308197.1. NM_001321268.1.
NP_001308198.1. NM_001321269.1.
NP_060247.2. NM_017777.3. [Q9NXB0-1]
XP_016880294.1. XM_017024805.1.
UniGeneiHs.408843.

3D structure databases

ProteinModelPortaliQ9NXB0.
SMRiQ9NXB0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120249. 81 interactors.
DIPiDIP-56251N.
IntActiQ9NXB0. 57 interactors.
MINTiMINT-1415211.
STRINGi9606.ENSP00000376827.

PTM databases

iPTMnetiQ9NXB0.
PhosphoSitePlusiQ9NXB0.

Polymorphism and mutation databases

BioMutaiMKS1.
DMDMi92087008.

Proteomic databases

EPDiQ9NXB0.
MaxQBiQ9NXB0.
PaxDbiQ9NXB0.
PeptideAtlasiQ9NXB0.
PRIDEiQ9NXB0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000393119; ENSP00000376827; ENSG00000011143. [Q9NXB0-1]
ENST00000537529; ENSP00000442096; ENSG00000011143. [Q9NXB0-3]
GeneIDi54903.
KEGGihsa:54903.
UCSCiuc002ivr.3. human. [Q9NXB0-1]

Organism-specific databases

CTDi54903.
DisGeNETi54903.
GeneCardsiMKS1.
GeneReviewsiMKS1.
HGNCiHGNC:7121. MKS1.
HPAiHPA021372.
HPA021812.
MalaCardsiMKS1.
MIMi249000. phenotype.
609883. gene.
615990. phenotype.
neXtProtiNX_Q9NXB0.
OpenTargetsiENSG00000011143.
Orphaneti110. Bardet-Biedl syndrome.
475. Joubert syndrome.
220493. Joubert syndrome with ocular defect.
564. Meckel syndrome.
PharmGKBiPA30840.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4446. Eukaryota.
ENOG410XP3Z. LUCA.
GeneTreeiENSGT00510000047471.
HOGENOMiHOG000251592.
HOVERGENiHBG079759.
InParanoidiQ9NXB0.
KOiK19332.
OMAiTFKGERL.
OrthoDBiEOG091G0BGX.
PhylomeDBiQ9NXB0.
TreeFamiTF323812.

Enzyme and pathway databases

ReactomeiR-HSA-5610787. Hedgehog 'off' state.
R-HSA-5620912. Anchoring of the basal body to the plasma membrane.

Miscellaneous databases

GeneWikiiMKS1.
GenomeRNAii54903.
PROiQ9NXB0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000011143.
CleanExiHS_MKS1.
ExpressionAtlasiQ9NXB0. baseline and differential.
GenevisibleiQ9NXB0. HS.

Family and domain databases

InterProiIPR010796. B9_dom.
[Graphical view]
PfamiPF07162. B9-C2. 1 hit.
[Graphical view]
PROSITEiPS51381. B9. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMKS1_HUMAN
AccessioniPrimary (citable) accession number: Q9NXB0
Secondary accession number(s): B7WNX4
, F5H885, Q284T0, Q96G13
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: March 7, 2006
Last modified: November 30, 2016
This is version 114 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.