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UniProtKB - Q9NXB0 (MKS1_HUMAN)

Entry version 140 (17 Jun 2020)
Sequence version 2 (07 Mar 2006)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCilium biogenesis/degradation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Meckel syndrome type 1 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MKS1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000011143.16

Human Gene Nomenclature Database

More...HGNCi		HGNC:7121 MKS1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		609883 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NXB0

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Meckel syndrome 1 (MKS1)3 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07751519D → Y in MKS1; no rescue of ciliation defects in an MKS1-knockdown cell line. 1 PublicationCorresponds to variant dbSNP:rs863225205Ensembl.1
Natural variantiVAR_062288166R → W in MKS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs201845154Ensembl.1
Natural variantiVAR_077517317G → E in MKS1; found in a compound heterozygote also carrying a deletion of S-372; unknown pathological significance; no defect of primary cilia formation in starved fibroblasts from a compound heterozygote 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_077518372Missing in MKS1; found in a compound heterozygote also carrying E-317; unknown pathological significance; no defect of primary cilia formation in starved fibroblasts from a compound heterozygote also carrying E-317; no effect on the localization to the transition zone. 1 Publication1
Natural variantiVAR_077519403S → L in MKS1; found in a compound heterozygote also carrying a mutation potentially affecting splicing and causing the deletion of F-88 to E-139; unknown pathological significance; decreased primary cilia formation in starved fibroblasts from a compound heterozygote also carrying a mutation potentially affecting splicing and causing the deletion of F-88 to E-139; 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_077520421P → S in MKS1; found in a compound heterozygote also carrying a mutation creating a frameshift and a premature stop codon; unknown pathological significance; no effect on primary cilia formation in starved fibroblasts from a compound heterozygote 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
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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_062290371Missing in BBS13. 1 Publication1
Natural variantiVAR_062292492C → W in BBS13. 1 PublicationCorresponds to variant dbSNP:rs137853105Ensembl.1
Joubert syndrome 28 (JBTS28)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076978362Missing in JBTS28. 1 Publication1

Keywords - Diseasei

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

Organism-specific databases

DisGeNET

More...DisGeNETi		54903

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		MKS1

MalaCards human disease database

More...MalaCardsi		MKS1
MIMi249000 phenotype
615990 phenotype
617121 phenotype

Open Targets

More...OpenTargetsi		ENSG00000011143

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		110 Bardet-Biedl syndrome
475 Joubert syndrome
220493 Joubert syndrome with ocular defect
564 Meckel syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30840

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9NXB0 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MKS1

Domain mapping of disease mutations (DMDM)

More...DMDMi		92087008

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002256861 – 559Meckel syndrome type 1 proteinAdd BLAST559

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9NXB0

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9NXB0

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9NXB0

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9NXB0

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9NXB0

PeptideAtlas

More...PeptideAtlasi		Q9NXB0

PRoteomics IDEntifications database

More...PRIDEi		Q9NXB0

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		27713
83068 [Q9NXB0-1]
83069 [Q9NXB0-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NXB0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9NXB0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000011143 Expressed in right uterine tube and 116 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NXB0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NXB0 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000011143 Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		120249, 87 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9NXB0

Database of interacting proteins

More...DIPi		DIP-56251N

Protein interaction database and analysis system

More...IntActi		Q9NXB0, 80 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000376827

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9NXB0 protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini311 – 439C2 B9-typePROSITE-ProRule annotationAdd BLAST129

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4446 Eukaryota
ENOG410XP3Z LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00510000047471

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_026711_0_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NXB0

KEGG Orthology (KO)

More...KOi		K19332

Identification of Orthologs from Complete Genome Data

More...OMAi		TDFEMTA

Database of Orthologous Groups

More...OrthoDBi		1091079at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NXB0

TreeFam database of animal gene trees

More...TreeFami		TF323812

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR010796 B9_dom

The PANTHER Classification System

More...PANTHERi		PTHR12968 PTHR12968, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF07162 B9-C2, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51381 C2_B9, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

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

Show »
Length:549
Mass (Da):63,344
Checksum:i6760801F0209F8A5
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y2S2H0Y2S2_HUMAN
Meckel syndrome type 1 protein
MKS1
456Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KSF4J3KSF4_HUMAN
Meckel syndrome type 1 protein
MKS1
228Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KRV5J3KRV5_HUMAN
Meckel syndrome type 1 protein
MKS1
117Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QQP4J3QQP4_HUMAN
Meckel syndrome type 1 protein
MKS1
211Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J9PBQ5J9PBQ5_HUMAN
Meckel syndrome type 1 protein
MKS1
164Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KSC6J3KSC6_HUMAN
Meckel syndrome type 1 protein
MKS1
146Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KRR3J3KRR3_HUMAN
Meckel syndrome type 1 protein
MKS1
121Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KSB7J3KSB7_HUMAN
Meckel syndrome type 1 protein
MKS1
48Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH10061 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAA91105 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07751519D → Y in MKS1; no rescue of ciliation defects in an MKS1-knockdown cell line. 1 PublicationCorresponds to variant dbSNP:rs863225205Ensembl.1
Natural variantiVAR_06016139L → F. Corresponds to variant dbSNP:rs11653070Ensembl.1
Natural variantiVAR_07751680W → 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_062287123R → Q1 PublicationCorresponds to variant dbSNP:rs202112856Ensembl.1
Natural variantiVAR_062288166R → W in MKS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs201845154Ensembl.1
Natural variantiVAR_062289286D → G1 PublicationCorresponds to variant dbSNP:rs151023718Ensembl.1
Natural variantiVAR_077517317G → E in MKS1; found in a compound heterozygote also carrying a deletion of S-372; unknown pathological significance; no defect of primary cilia formation in starved fibroblasts from a compound heterozygote 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_076978362Missing in JBTS28. 1 Publication1
Natural variantiVAR_062290371Missing in BBS13. 1 Publication1
Natural variantiVAR_077518372Missing in MKS1; found in a compound heterozygote also carrying E-317; unknown pathological significance; no defect of primary cilia formation in starved fibroblasts from a compound heterozygote also carrying E-317; no effect on the localization to the transition zone. 1 Publication1
Natural variantiVAR_077519403S → L in MKS1; found in a compound heterozygote also carrying a mutation potentially affecting splicing and causing the deletion of F-88 to E-139; unknown pathological significance; decreased primary cilia formation in starved fibroblasts from a compound heterozygote also carrying a mutation potentially affecting splicing and causing the deletion of F-88 to E-139; 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_077520421P → S in MKS1; found in a compound heterozygote also carrying a mutation creating a frameshift and a premature stop codon; unknown pathological significance; no effect on primary cilia formation in starved fibroblasts from a compound heterozygote 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_062291450I → T1 PublicationCorresponds to variant dbSNP:rs200865108Ensembl.1
Natural variantiVAR_062292492C → W in BBS13. 1 PublicationCorresponds to variant dbSNP:rs137853105Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11603.2 [Q9NXB0-1]
CCDS54148.1 [Q9NXB0-3]

NCBI Reference Sequences

More...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

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000393119; ENSP00000376827; ENSG00000011143 [Q9NXB0-1]
ENST00000537529; ENSP00000442096; ENSG00000011143 [Q9NXB0-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		54903

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:54903

UCSC genome browser

More...UCSCi		uc002ivr.3 human [Q9NXB0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi120249, 87 interactors
CORUMiQ9NXB0
DIPiDIP-56251N
IntActiQ9NXB0, 80 interactors
STRINGi9606.ENSP00000376827

PTM databases

iPTMnetiQ9NXB0
PhosphoSitePlusiQ9NXB0

Polymorphism and mutation databases

BioMutaiMKS1
DMDMi92087008

Proteomic databases

EPDiQ9NXB0
jPOSTiQ9NXB0
MassIVEiQ9NXB0
MaxQBiQ9NXB0
PaxDbiQ9NXB0
PeptideAtlasiQ9NXB0
PRIDEiQ9NXB0
ProteomicsDBi27713
83068 [Q9NXB0-1]
83069 [Q9NXB0-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		18351 95 antibodies

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		54903
DisGeNETi54903
EuPathDBiHostDB:ENSG00000011143.16

GeneCards: human genes, protein and diseases

More...GeneCardsi		MKS1
GeneReviewsiMKS1
HGNCiHGNC:7121 MKS1
HPAiENSG00000011143 Low tissue specificity
MalaCardsiMKS1
MIMi249000 phenotype
609883 gene
615990 phenotype
617121 phenotype
neXtProtiNX_Q9NXB0
OpenTargetsiENSG00000011143
Orphaneti110 Bardet-Biedl syndrome
475 Joubert syndrome
220493 Joubert syndrome with ocular defect
564 Meckel syndrome
PharmGKBiPA30840

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4446 Eukaryota
ENOG410XP3Z LUCA
GeneTreeiENSGT00510000047471
HOGENOMiCLU_026711_0_1_1
InParanoidiQ9NXB0
KOiK19332
OMAiTDFEMTA
OrthoDBi1091079at2759
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

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		54903 1 hit in 785 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		MKS1 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		MKS1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		54903
PharosiQ9NXB0 Tbio

Protein Ontology

More...PROi		PR:Q9NXB0
RNActiQ9NXB0 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000011143 Expressed in right uterine tube and 116 other tissues
ExpressionAtlasiQ9NXB0 baseline and differential
GenevisibleiQ9NXB0 HS

Family and domain databases

InterProiView protein in InterPro
IPR010796 B9_dom
PANTHERiPTHR12968 PTHR12968, 1 hit
PfamiView protein in Pfam
PF07162 B9-C2, 1 hit
PROSITEiView protein in PROSITE
PS51381 C2_B9, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMKS1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NXB0
Secondary accession number(s): B7WNX4
, F5H885, Q284T0, Q96G13
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: March 7, 2006
Last modified: June 17, 2020
This is version 140 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

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