UniProtKB - Q9NXB0 (MKS1_HUMAN)
Meckel syndrome type 1 protein
MKS1
Functioni
GO - Biological processi
- ciliary basal body-plasma membrane docking Source: Reactome
- cilium assembly Source: UniProtKB
Keywordsi
Biological process | Cilium biogenesis/degradation |
Enzyme and pathway databases
PathwayCommonsi | Q9NXB0 |
Reactomei | R-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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:7121, MKS1 |
MIMi | 609883, gene |
neXtProti | NX_Q9NXB0 |
VEuPathDBi | HostDB:ENSG00000011143.16 |
Subcellular locationi
Cytoskeleton
Note: Localizes at the transition zone, a region between the basal body and the ciliary axoneme.1 Publication
Cytoskeleton
- centrosome Source: UniProtKB
- ciliary basal body Source: UniProtKB
Cytosol
- cytosol Source: Reactome
Other locations
- cytoplasm Source: UniProtKB
- MKS complex Source: UniProtKB
Keywords - Cellular componenti
Cell projection, Cilium, Cytoplasm, CytoskeletonPathology & Biotechi
Involvement in diseasei
Meckel syndrome 1 (MKS1)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077515 | 19 | D → Y in MKS1; no rescue of ciliation defects in an MKS1-knockdown cell line. 1 PublicationCorresponds to variant dbSNP:rs863225205Ensembl. | 1 | |
Natural variantiVAR_062288 | 166 | R → W in MKS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs201845154Ensembl. | 1 | |
Natural variantiVAR_077517 | 317 | G → E in MKS1; unknown pathological significance; no defect of primary cilia formation in starved fibroblasts from a patient also carrying a deletion of S-372; no effect on the localization to the transition zone. 1 PublicationCorresponds to variant dbSNP:rs863225208Ensembl. | 1 | |
Natural variantiVAR_077518 | 372 | Missing in MKS1; unknown pathological significance; no defect of primary cilia formation in starved fibroblasts from a patient also carrying E-317; no effect on the localization to the transition zone. 1 Publication | 1 | |
Natural variantiVAR_077519 | 403 | S → L in MKS1; unknown pathological significance; decreased primary cilia formation in starved fibroblasts from a patient also carrying a mutation potentially affecting splicing; complete rescue of ciliation defects in an MKS1-knockdown cell line; no effect on the localization to the transition zone. 1 PublicationCorresponds to variant dbSNP:rs773684291Ensembl. | 1 | |
Natural variantiVAR_077520 | 421 | P → S in MKS1; unknown pathological significance; no effect on primary cilia formation in starved fibroblasts from a patient also carrying a mutation creating a frameshift and a premature stop codon; partial rescue of ciliation defects in an MKS1-knockdown cell line; no effect on the localization to the transition zone. 1 PublicationCorresponds to variant dbSNP:rs863225210Ensembl. | 1 |
Bardet-Biedl syndrome 13 (BBS13)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_062290 | 371 | Missing in BBS13. 1 Publication | 1 | |
Natural variantiVAR_062292 | 492 | C → W in BBS13. 1 PublicationCorresponds to variant dbSNP:rs137853105Ensembl. | 1 |
Joubert syndrome 28 (JBTS28)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_076978 | 362 | Missing in JBTS28. 1 Publication | 1 |
Keywords - Diseasei
Bardet-Biedl syndrome, Ciliopathy, Disease variant, Joubert syndrome, Meckel syndrome, Mental retardation, ObesityOrganism-specific databases
DisGeNETi | 54903 |
GeneReviewsi | MKS1 |
MalaCardsi | MKS1 |
MIMi | 249000, phenotype 615990, phenotype 617121, phenotype |
OpenTargetsi | ENSG00000011143 |
Orphaneti | 110, Bardet-Biedl syndrome 475, Joubert syndrome 220493, Joubert syndrome with ocular defect 564, Meckel syndrome |
PharmGKBi | PA30840 |
Miscellaneous databases
Pharosi | Q9NXB0, Tbio |
Genetic variation databases
BioMutai | MKS1 |
DMDMi | 92087008 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000225686 | 1 – 559 | Meckel syndrome type 1 proteinAdd BLAST | 559 |
Proteomic databases
EPDi | Q9NXB0 |
MassIVEi | Q9NXB0 |
MaxQBi | Q9NXB0 |
PaxDbi | Q9NXB0 |
PeptideAtlasi | Q9NXB0 |
PRIDEi | Q9NXB0 |
ProteomicsDBi | 27713 83068 [Q9NXB0-1] 83069 [Q9NXB0-2] |
PTM databases
iPTMneti | Q9NXB0 |
PhosphoSitePlusi | Q9NXB0 |
Expressioni
Gene expression databases
Bgeei | ENSG00000011143, Expressed in right uterine tube and 139 other tissues |
ExpressionAtlasi | Q9NXB0, baseline and differential |
Genevisiblei | Q9NXB0, HS |
Organism-specific databases
HPAi | ENSG00000011143, Low tissue specificity |
Interactioni
Subunit structurei
Part of the tectonic-like complex (also named B9 complex) (PubMed:26595381).
Interacts with TMEM107 (PubMed:26595381).
Interacts with TCTN3, AHI1, TCTN1, TCTN2, CC2D2A (By similarity).
Interacts with FLNA (PubMed:22121117).
Interacts with TMEM67 (PubMed:17185389).
Interacts with B9D1 and B9D2 (By similarity).
By similarity3 PublicationsBinary interactionsi
Hide detailsProtein-protein interaction databases
BioGRIDi | 120249, 94 interactors |
CORUMi | Q9NXB0 |
DIPi | DIP-56251N |
IntActi | Q9NXB0, 80 interactors |
STRINGi | 9606.ENSP00000376827 |
Miscellaneous databases
RNActi | Q9NXB0, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 311 – 439 | C2 B9-typePROSITE-ProRule annotationAdd BLAST | 129 |
Phylogenomic databases
eggNOGi | KOG4446, Eukaryota |
GeneTreei | ENSGT00510000047471 |
HOGENOMi | CLU_026711_0_1_1 |
InParanoidi | Q9NXB0 |
OMAi | TDFEMTA |
OrthoDBi | 1091079at2759 |
PhylomeDBi | Q9NXB0 |
TreeFami | TF323812 |
Family and domain databases
InterProi | View protein in InterPro IPR010796, B9_dom |
PANTHERi | PTHR12968, PTHR12968, 1 hit |
Pfami | View protein in Pfam PF07162, B9-C2, 1 hit |
PROSITEi | View protein in PROSITE PS51381, C2_B9, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 17 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 17 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A0S2Z5Z2 | A0A0S2Z5Z2_HUMAN | Meckel syndrome type 1 isoform 3 | MKS1 | 416 | Annotation score: | ||
H0Y2S2 | H0Y2S2_HUMAN | Meckel syndrome type 1 protein | MKS1 | 456 | Annotation score: | ||
J3KSF4 | J3KSF4_HUMAN | Meckel syndrome type 1 protein | MKS1 | 228 | Annotation score: | ||
J3QQP4 | J3QQP4_HUMAN | Meckel syndrome type 1 protein | MKS1 | 470 | Annotation score: | ||
J3KSC6 | J3KSC6_HUMAN | Meckel syndrome type 1 protein | MKS1 | 432 | Annotation score: | ||
J9PBQ5 | J9PBQ5_HUMAN | Meckel syndrome type 1 protein | MKS1 | 164 | Annotation score: | ||
A0A6Q8PG98 | A0A6Q8PG98_HUMAN | Meckel syndrome type 1 protein | MKS1 | 146 | Annotation score: | ||
A0A6Q8PGJ4 | A0A6Q8PGJ4_HUMAN | Meckel syndrome type 1 protein | MKS1 | 154 | Annotation score: | ||
J3KRR3 | J3KRR3_HUMAN | Meckel syndrome type 1 protein | MKS1 | 343 | Annotation score: | ||
J3KSB7 | J3KSB7_HUMAN | Meckel syndrome type 1 protein | MKS1 | 48 | Annotation score: | ||
There are more potential isoformsShow all |
Sequence cautioni
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077515 | 19 | D → Y in MKS1; no rescue of ciliation defects in an MKS1-knockdown cell line. 1 PublicationCorresponds to variant dbSNP:rs863225205Ensembl. | 1 | |
Natural variantiVAR_060161 | 39 | L → F. Corresponds to variant dbSNP:rs11653070Ensembl. | 1 | |
Natural variantiVAR_077516 | 80 | W → C Found in a patient with Joubert syndrome also carrying a deletion in MKS1 intron 15 and a missense mutation in TCTN3 gene 'P-95'; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1114167302Ensembl. | 1 | |
Natural variantiVAR_062287 | 123 | R → Q1 PublicationCorresponds to variant dbSNP:rs202112856Ensembl. | 1 | |
Natural variantiVAR_062288 | 166 | R → W in MKS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs201845154Ensembl. | 1 | |
Natural variantiVAR_062289 | 286 | D → G1 PublicationCorresponds to variant dbSNP:rs151023718Ensembl. | 1 | |
Natural variantiVAR_077517 | 317 | G → E in MKS1; unknown pathological significance; no defect of primary cilia formation in starved fibroblasts from a patient also carrying a deletion of S-372; no effect on the localization to the transition zone. 1 PublicationCorresponds to variant dbSNP:rs863225208Ensembl. | 1 | |
Natural variantiVAR_076978 | 362 | Missing in JBTS28. 1 Publication | 1 | |
Natural variantiVAR_062290 | 371 | Missing in BBS13. 1 Publication | 1 | |
Natural variantiVAR_077518 | 372 | Missing in MKS1; unknown pathological significance; no defect of primary cilia formation in starved fibroblasts from a patient also carrying E-317; no effect on the localization to the transition zone. 1 Publication | 1 | |
Natural variantiVAR_077519 | 403 | S → L in MKS1; unknown pathological significance; decreased primary cilia formation in starved fibroblasts from a patient also carrying a mutation potentially affecting splicing; complete rescue of ciliation defects in an MKS1-knockdown cell line; no effect on the localization to the transition zone. 1 PublicationCorresponds to variant dbSNP:rs773684291Ensembl. | 1 | |
Natural variantiVAR_077520 | 421 | P → S in MKS1; unknown pathological significance; no effect on primary cilia formation in starved fibroblasts from a patient also carrying a mutation creating a frameshift and a premature stop codon; partial rescue of ciliation defects in an MKS1-knockdown cell line; no effect on the localization to the transition zone. 1 PublicationCorresponds to variant dbSNP:rs863225210Ensembl. | 1 | |
Natural variantiVAR_062291 | 450 | I → T1 PublicationCorresponds to variant dbSNP:rs200865108Ensembl. | 1 | |
Natural variantiVAR_062292 | 492 | C → W in BBS13. 1 PublicationCorresponds to variant dbSNP:rs137853105Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_046063 | 1 – 26 | MAETV…RNLRL → MAVPVSSFAQRTRSRF in isoform 3. 1 PublicationAdd BLAST | 26 | |
Alternative sequenceiVSP_017414 | 471 – 559 | ERLSR…GTLVS → LSSSKTKEGRKVDGERVLNP QPVSLSLFPGKPHSTAWGLL RLRYELFLSK in isoform 2. 1 PublicationAdd BLAST | 89 |
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 |
CCDSi | CCDS11603.2 [Q9NXB0-1] CCDS54148.1 [Q9NXB0-3] |
RefSeqi | NP_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 |
Genome annotation databases
Ensembli | ENST00000393119; ENSP00000376827; ENSG00000011143 [Q9NXB0-1] |
GeneIDi | 54903 |
KEGGi | hsa:54903 |
UCSCi | uc002ivr.3, human [Q9NXB0-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS11603.2 [Q9NXB0-1] CCDS54148.1 [Q9NXB0-3] |
RefSeqi | NP_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 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 120249, 94 interactors |
CORUMi | Q9NXB0 |
DIPi | DIP-56251N |
IntActi | Q9NXB0, 80 interactors |
STRINGi | 9606.ENSP00000376827 |
PTM databases
iPTMneti | Q9NXB0 |
PhosphoSitePlusi | Q9NXB0 |
Genetic variation databases
BioMutai | MKS1 |
DMDMi | 92087008 |
Proteomic databases
EPDi | Q9NXB0 |
MassIVEi | Q9NXB0 |
MaxQBi | Q9NXB0 |
PaxDbi | Q9NXB0 |
PeptideAtlasi | Q9NXB0 |
PRIDEi | Q9NXB0 |
ProteomicsDBi | 27713 83068 [Q9NXB0-1] 83069 [Q9NXB0-2] |
Protocols and materials databases
Antibodypediai | 18351, 100 antibodies |
Genome annotation databases
Ensembli | ENST00000393119; ENSP00000376827; ENSG00000011143 [Q9NXB0-1] |
GeneIDi | 54903 |
KEGGi | hsa:54903 |
UCSCi | uc002ivr.3, human [Q9NXB0-1] |
Organism-specific databases
CTDi | 54903 |
DisGeNETi | 54903 |
GeneCardsi | MKS1 |
GeneReviewsi | MKS1 |
HGNCi | HGNC:7121, MKS1 |
HPAi | ENSG00000011143, Low tissue specificity |
MalaCardsi | MKS1 |
MIMi | 249000, phenotype 609883, gene 615990, phenotype 617121, phenotype |
neXtProti | NX_Q9NXB0 |
OpenTargetsi | ENSG00000011143 |
Orphaneti | 110, Bardet-Biedl syndrome 475, Joubert syndrome 220493, Joubert syndrome with ocular defect 564, Meckel syndrome |
PharmGKBi | PA30840 |
VEuPathDBi | HostDB:ENSG00000011143.16 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4446, Eukaryota |
GeneTreei | ENSGT00510000047471 |
HOGENOMi | CLU_026711_0_1_1 |
InParanoidi | Q9NXB0 |
OMAi | TDFEMTA |
OrthoDBi | 1091079at2759 |
PhylomeDBi | Q9NXB0 |
TreeFami | TF323812 |
Enzyme and pathway databases
PathwayCommonsi | Q9NXB0 |
Reactomei | R-HSA-5610787, Hedgehog 'off' state R-HSA-5620912, Anchoring of the basal body to the plasma membrane |
Miscellaneous databases
BioGRID-ORCSi | 54903, 7 hits in 988 CRISPR screens |
ChiTaRSi | MKS1, human |
GeneWikii | MKS1 |
GenomeRNAii | 54903 |
Pharosi | Q9NXB0, Tbio |
PROi | PR:Q9NXB0 |
RNActi | Q9NXB0, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000011143, Expressed in right uterine tube and 139 other tissues |
ExpressionAtlasi | Q9NXB0, baseline and differential |
Genevisiblei | Q9NXB0, HS |
Family and domain databases
InterProi | View protein in InterPro IPR010796, B9_dom |
PANTHERi | PTHR12968, PTHR12968, 1 hit |
Pfami | View protein in Pfam PF07162, B9-C2, 1 hit |
PROSITEi | View protein in PROSITE PS51381, C2_B9, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MKS1_HUMAN | |
Accessioni | Q9NXB0Primary (citable) accession number: Q9NXB0 Secondary accession number(s): B7WNX4 Q96G13 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 7, 2006 |
Last sequence update: | March 7, 2006 | |
Last modified: | April 7, 2021 | |
This is version 144 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot