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Entry version 113 (17 Jun 2020)
Sequence version 1 (21 Dec 2004)
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Protein

Meckel syndrome type 1 protein homolog

Gene

Mks1

Organism
Mus musculus (Mouse)
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.4 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

<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-MMU-5610787 Hedgehog 'off' state
R-MMU-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 homolog
<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>OrganismiMus musculus (Mouse)
<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 identifieri10090 [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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
<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
  • UP000000589 <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 11

Organism-specific databases

Mouse genome database (MGD) from Mouse Genome Informatics (MGI)

More...
MGIi
MGI:3584243 Mks1

<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 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_00002256871 – 561Meckel syndrome type 1 protein homologAdd BLAST561

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q5SW45

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

More...
PaxDbi
Q5SW45

PRoteomics IDEntifications database

More...
PRIDEi
Q5SW45

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q5SW45

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

More...
PhosphoSitePlusi
Q5SW45

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed in embryo at E15.5, with a relatively strong expression in brain, liver, kidney and digits of the upper limbs. Highly expressed in bronchiolar epithelium.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSMUSG00000034121 Expressed in ear vesicle and 180 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q5SW45 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q5SW45 MM

<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:22179047, PubMed:21725307).

Interacts with TMEM107 (By similarity).

Interacts with TCTN3, AHI1, TCTN1, TCTN2, CC2D2A (PubMed:21565611).

Interacts with FLNA.

Interacts with TMEM67 (By similarity).

Interacts with B9D1 and B9D2 (PubMed:21763481, PubMed:21565611).

By similarity4 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

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
237616, 35 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q5SW45

Protein interaction database and analysis system

More...
IntActi
Q5SW45, 22 interactors

STRING: functional protein association networks

More...
STRINGi
10090.ENSMUSP00000043790

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q5SW45 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>Domaini314 – 442C2 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
Q5SW45

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
Q5SW45

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>Sequencei

<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.

Q5SW45-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAEAVWSTDT GEAVYRSRDP VRNLRLRVHL QRITSSNFLH YQPAAQMGKD
60 70 80 90 100
LIDLATFRPP QAASGHRPDE EEEEEVVIGW QEKLFSQFEV DLYQNESACQ
110 120 130 140 150
SPLDHQYRQE ILKLENSGGR KNRRIFTYTD SDRYTDLEEY CQKITTSASE
160 170 180 190 200
VPSFLAERMA NVRRRRQDRR GVEGSKLKSR IVTWEPSEDF IKNNHAINTP
210 220 230 240 250
LQTMYIMADL GPYGKLGYKV HEHVLCILKV DSNGVITVKP DFTGIKGPYR
260 270 280 290 300
IETEGEKQEH TSAWKYTIDN VSSLAQPEEE EREQRVFKDL YGRHKEYLSS
310 320 330 340 350
LVGTDFEMIA PGALRLFVNG EVVSAQGYEY DNLYVHFFVE LPAANWSSPP
360 370 380 390 400
FQQLSGVTQA CATKSLGMDK VAYFSFPFTF EAFFLHEDES AESLPEWPVL
410 420 430 440 450
YCKVLSLDFW QRYRVEGYGA VVLPATPGSH TLTVSTWRPM ELGLVAELRR
460 470 480 490 500
FFIGGSLELE DPSYVRIPGT FKGERLSRFG FRTETTGTVT FRLHCLQQSR
510 520 530 540 550
AFMESNSLQK QMRSVLDRLE GFSQQSSTHN VLEAFRRARR RMQEARESLP
560
QDLVSPTGTL T
Length:561
Mass (Da):64,416
Last modified:December 21, 2004 - v1
<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:i2FAD4BAA10B997B3
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti145T → N in BAE20467 (PubMed:16141072).Curated1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK030982 mRNA Translation: BAE20467.1
AL606805 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS36271.1

NCBI Reference Sequences

More...
RefSeqi
NP_001034773.2, NM_001039684.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENSMUST00000038196; ENSMUSP00000043790; ENSMUSG00000034121

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
380718

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
mmu:380718

UCSC genome browser

More...
UCSCi
uc007kut.1 mouse

<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
AK030982 mRNA Translation: BAE20467.1
AL606805 Genomic DNA No translation available.
CCDSiCCDS36271.1
RefSeqiNP_001034773.2, NM_001039684.2

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

BioGRIDi237616, 35 interactors
CORUMiQ5SW45
IntActiQ5SW45, 22 interactors
STRINGi10090.ENSMUSP00000043790

PTM databases

iPTMnetiQ5SW45
PhosphoSitePlusiQ5SW45

Proteomic databases

MaxQBiQ5SW45
PaxDbiQ5SW45
PRIDEiQ5SW45

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
18351 95 antibodies

Genome annotation databases

EnsembliENSMUST00000038196; ENSMUSP00000043790; ENSMUSG00000034121
GeneIDi380718
KEGGimmu:380718
UCSCiuc007kut.1 mouse

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
54903
MGIiMGI:3584243 Mks1

Phylogenomic databases

eggNOGiKOG4446 Eukaryota
ENOG410XP3Z LUCA
GeneTreeiENSGT00510000047471
HOGENOMiCLU_026711_0_1_1
InParanoidiQ5SW45
KOiK19332
OMAiTDFEMTA
OrthoDBi1091079at2759
PhylomeDBiQ5SW45
TreeFamiTF323812

Enzyme and pathway databases

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

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
380718 3 hits in 12 CRISPR screens

Protein Ontology

More...
PROi
PR:Q5SW45
RNActiQ5SW45 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSMUSG00000034121 Expressed in ear vesicle and 180 other tissues
ExpressionAtlasiQ5SW45 baseline and differential
GenevisibleiQ5SW45 MM

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_MOUSE
<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: Q5SW45
Secondary accession number(s): Q3V3W3
<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: December 21, 2004
Last modified: June 17, 2020
This is version 113 of the entry and version 1 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

<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. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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