Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 177 (13 Nov 2019)
Sequence version 1 (01 Oct 2000)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin

Gene

MKKS

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

Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis (PubMed:20080638). Plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis (PubMed:28753627).2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi192 – 199ATPSequence analysis8

<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 - Molecular functioni

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

Molecular functionChaperone
Biological processSensory transduction, Vision
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5620922 BBSome-mediated cargo-targeting to cilium

<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_and_taxonomy_section">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:
McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
Alternative name(s):
Bardet-Biedl syndrome 6 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:MKKSImported
Synonyms:BBS61 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 20

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7108 MKKS

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604896 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NPJ1

<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

Cytoplasm, Cytoskeleton, Nucleus

<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

McKusick-Kaufman syndrome (MKKS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive developmental disorder. It is characterized by hydrometrocolpos, postaxial polydactyly and congenital heart defects.
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_00986437Y → C in MKKS and BBS6; causes both increased MKKS protein degradation and reduced solubility relative to wild-type and Tyr-84 mutant; the mutant is immobilized at the centrosome even in the absence of proteasome inhibition; the mutant is also highly polyubiquitinated; no effect on import to the nucleus. 6 PublicationsCorresponds to variant dbSNP:rs74315396EnsemblClinVar.1
Natural variantiVAR_00986684H → Y in MKKS; associated with S-242; decreased interaction with BBS12; no effect on ciliogenesis; disrupts import to the nucleus; no effect on interaction with SMARCC1; may affect modulation of SMARCC1 subcellular location. 3 PublicationsCorresponds to variant dbSNP:rs281797258EnsemblClinVar.1
Natural variantiVAR_009867242A → S in MKKS and BBS6; associated with Y-84 in MKKS; unknown pathological significance; increases MKKS protein degradation; no effect on ciliogenesis; disrupts import to the nucleus; no effect on interaction with SMARCC1; may affect modulation of SMARCC1 subcellular location. 8 PublicationsCorresponds to variant dbSNP:rs74315394EnsemblClinVar.1
Bardet-Biedl syndrome 6 (BBS6)17 Publications
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_01703532I → M in BBS6. 1 Publication1
Natural variantiVAR_00986437Y → C in MKKS and BBS6; causes both increased MKKS protein degradation and reduced solubility relative to wild-type and Tyr-84 mutant; the mutant is immobilized at the centrosome even in the absence of proteasome inhibition; the mutant is also highly polyubiquitinated; no effect on import to the nucleus. 6 PublicationsCorresponds to variant dbSNP:rs74315396EnsemblClinVar.1
Natural variantiVAR_08022340 – 570Missing in BBS6. 1 PublicationAdd BLAST531
Natural variantiVAR_06626241G → R in BBS6. 1 PublicationCorresponds to variant dbSNP:rs766132697Ensembl.1
Natural variantiVAR_00988252G → D in BBS6; fails to associate with centrosome. 3 PublicationsCorresponds to variant dbSNP:rs28937875EnsemblClinVar.1
Natural variantiVAR_00988357T → A in BBS6; found in a patient also carrying A-155 in TMEM237; causes both increased MKKS protein degradation and reduced solubility relative to wild-type and Y-84 mutant; greatly reduces the ability to interact with BBS12. 5 PublicationsCorresponds to variant dbSNP:rs74315399EnsemblClinVar.1
Natural variantiVAR_06626399C → R in BBS6. 1 PublicationCorresponds to variant dbSNP:rs1297985227EnsemblClinVar.1
Natural variantiVAR_017040155R → L in BBS6; increases MKKS protein degradation; localizes properly to the centrosome. 2 PublicationsCorresponds to variant dbSNP:rs138111422Ensembl.1
Natural variantiVAR_038898181A → P in BBS6. 1 Publication1
Natural variantiVAR_017036236S → P in BBS6. 3 Publications1
Natural variantiVAR_038899237T → A in BBS6. 1 PublicationCorresponds to variant dbSNP:rs760185677Ensembl.1
Natural variantiVAR_038900237T → P in BBS6. 2 Publications1
Natural variantiVAR_009867242A → S in MKKS and BBS6; associated with Y-84 in MKKS; unknown pathological significance; increases MKKS protein degradation; no effect on ciliogenesis; disrupts import to the nucleus; no effect on interaction with SMARCC1; may affect modulation of SMARCC1 subcellular location. 8 PublicationsCorresponds to variant dbSNP:rs74315394EnsemblClinVar.1
Natural variantiVAR_009884277L → P in BBS6; moderately affects interaction with BBS2; greatly reduces the ability to interact with BBS12. 2 PublicationsCorresponds to variant dbSNP:rs74315398EnsemblClinVar.1
Natural variantiVAR_017037286D → A in BBS6; fails to associate with centrosome. 2 Publications1
Natural variantiVAR_066264299P → L in BBS6. 1 PublicationCorresponds to variant dbSNP:rs756083063Ensembl.1
Natural variantiVAR_017042345G → E in BBS6; increases MKKS protein degradation; fails to associate with centrosome; the mutant is highly polyubiquitinated and rapidly degraded by the ubiquitin-proteasome protein degradation pathway. 3 PublicationsCorresponds to variant dbSNP:rs779116830Ensembl.1
Natural variantiVAR_077208395H → R in BBS6; atypical mild phenotype consisting of retinitis pigmentosa and polydactyly without other signs of Bardet-Biedl syndrome; results in decreased interaction with BBS12. 1 PublicationCorresponds to variant dbSNP:rs912923677Ensembl.1
Natural variantiVAR_038902460S → P in BBS6. 1 Publication1
Natural variantiVAR_038903492D → N in BBS6. 1 PublicationCorresponds to variant dbSNP:rs142327258EnsemblClinVar.1
Natural variantiVAR_013161499C → S in BBS6; causes both increased MKKS protein degradation and reduced solubility relative to wild-type and Tyr-84 mutant; localizes properly to the centrosome. 4 PublicationsCorresponds to variants dbSNP:rs281797259 and dbSNP:rs137853155EnsemblClinVarEnsembl.1
Natural variantiVAR_017038511S → A in BBS6. 1 Publication1
Natural variantiVAR_017039518R → H in BBS6. 1 PublicationCorresponds to variant dbSNP:rs149051148EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi454L → P: No effect on import to the nucleus. 1 Publication1

Keywords - Diseasei

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

Organism-specific databases

DisGeNET

More...
DisGeNETi
8195

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

More...
GeneReviewsi
MKKS

MalaCards human disease database

More...
MalaCardsi
MKKS
MIMi236700 phenotype
605231 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000125863

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

More...
Orphaneti
110 Bardet-Biedl syndrome
2473 McKusick-Kaufman syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30826

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NPJ1

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MKKS

Domain mapping of disease mutations (DMDM)

More...
DMDMi
11133565

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001284151 – 570McKusick-Kaufman/Bardet-Biedl syndromes putative chaperoninAdd BLAST570

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9NPJ1

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9NPJ1

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

More...
PaxDbi
Q9NPJ1

PeptideAtlas

More...
PeptideAtlasi
Q9NPJ1

PRoteomics IDEntifications database

More...
PRIDEi
Q9NPJ1

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
82024

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NPJ1

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

More...
PhosphoSitePlusi
Q9NPJ1

<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 adult and fetal tissues.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000125863 Expressed in 219 organ(s), highest expression level in middle temporal gyrus

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NPJ1 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA041071
HPA044233

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of a complex composed at least of MKKS, BBS10, BBS12, TCP1, CCT2, CCT3, CCT4, CCT5 AND CCT8 (PubMed:20080638).

Interacts with STUB1 (PubMed:18094050).

Interacts with BBS2 (via coiled coil domain) (PubMed:20080638).

Interacts with CCDC28B (PubMed:16327777).

Interacts with BBS12 (PubMed:26900326).

Interacts with SMARCC1, a component of the SWI/SNF complexes; the interaction takes place predominantly in the cytoplasm and may modulate SMARCC1 location (PubMed:28753627).

5 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
113837, 11 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q9NPJ1

Database of interacting proteins

More...
DIPi
DIP-60349N

Protein interaction database and analysis system

More...
IntActi
Q9NPJ1, 11 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000246062

<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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni198 – 370Substrate-binding apical domainAdd BLAST173

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The substrate-binding apical domain region is sufficient for centrosomal association.

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the TCP-1 chaperonin family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0360 Eukaryota
COG0459 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000007214

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000013131

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NPJ1

KEGG Orthology (KO)

More...
KOi
K09492

Identification of Orthologs from Complete Genome Data

More...
OMAi
SRCGCGL

Database of Orthologous Groups

More...
OrthoDBi
1539473at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NPJ1

TreeFam database of animal gene trees

More...
TreeFami
TF329106

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.560.10, 1 hit
3.30.260.10, 1 hit
3.50.7.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR002423 Cpn60/TCP-1
IPR027409 GroEL-like_apical_dom_sf
IPR027413 GROEL-like_equatorial_sf
IPR028790 MKKS
IPR027410 TCP-1-like_intermed_sf

The PANTHER Classification System

More...
PANTHERi
PTHR46787 PTHR46787, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00118 Cpn60_TCP1, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48592 SSF48592, 1 hit
SSF52029 SSF52029, 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_length">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

Q9NPJ1-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSRLEAKKPS LCKSEPLTTE RVRTTLSVLK RIVTSCYGPS GRLKQLHNGF
60 70 80 90 100
GGYVCTTSQS SALLSHLLVT HPILKILTAS IQNHVSSFSD CGLFTAILCC
110 120 130 140 150
NLIENVQRLG LTPTTVIRLN KHLLSLCISY LKSETCGCRI PVDFSSTQIL
160 170 180 190 200
LCLVRSILTS KPACMLTRKE TEHVSALILR AFLLTIPENA EGHIILGKSL
210 220 230 240 250
IVPLKGQRVI DSTVLPGILI EMSEVQLMRL LPIKKSTALK VALFCTTLSG
260 270 280 290 300
DTSDTGEGTV VVSYGVSLEN AVLDQLLNLG RQLISDHVDL VLCQKVIHPS
310 320 330 340 350
LKQFLNMHRI IAIDRIGVTL MEPLTKMTGT QPIGSLGSIC PNSYGSVKDV
360 370 380 390 400
CTAKFGSKHF FHLIPNEATI CSLLLCNRND TAWDELKLTC QTALHVLQLT
410 420 430 440 450
LKEPWALLGG GCTETHLAAY IRHKTHNDPE SILKDDECTQ TELQLIAEAF
460 470 480 490 500
CSALESVVGS LEHDGGEILT DMKYGHLWSV QADSPCVANW PDLLSQCGCG
510 520 530 540 550
LYNSQEELNW SFLRSTRRPF VPQSCLPHEA VGSASNLTLD CLTAKLSGLQ
560 570
VAVETANLIL DLSYVIEDKN
Length:570
Mass (Da):62,342
Last modified:October 1, 2000 - 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:i14BA57FF8AEA0AF7
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01703532I → M in BBS6. 1 Publication1
Natural variantiVAR_00986437Y → C in MKKS and BBS6; causes both increased MKKS protein degradation and reduced solubility relative to wild-type and Tyr-84 mutant; the mutant is immobilized at the centrosome even in the absence of proteasome inhibition; the mutant is also highly polyubiquitinated; no effect on import to the nucleus. 6 PublicationsCorresponds to variant dbSNP:rs74315396EnsemblClinVar.1
Natural variantiVAR_08022340 – 570Missing in BBS6. 1 PublicationAdd BLAST531
Natural variantiVAR_06626241G → R in BBS6. 1 PublicationCorresponds to variant dbSNP:rs766132697Ensembl.1
Natural variantiVAR_00986549G → V1 PublicationCorresponds to variant dbSNP:rs528833454Ensembl.1
Natural variantiVAR_00988252G → D in BBS6; fails to associate with centrosome. 3 PublicationsCorresponds to variant dbSNP:rs28937875EnsemblClinVar.1
Natural variantiVAR_00988357T → A in BBS6; found in a patient also carrying A-155 in TMEM237; causes both increased MKKS protein degradation and reduced solubility relative to wild-type and Y-84 mutant; greatly reduces the ability to interact with BBS12. 5 PublicationsCorresponds to variant dbSNP:rs74315399EnsemblClinVar.1
Natural variantiVAR_00986684H → Y in MKKS; associated with S-242; decreased interaction with BBS12; no effect on ciliogenesis; disrupts import to the nucleus; no effect on interaction with SMARCC1; may affect modulation of SMARCC1 subcellular location. 3 PublicationsCorresponds to variant dbSNP:rs281797258EnsemblClinVar.1
Natural variantiVAR_06626399C → R in BBS6. 1 PublicationCorresponds to variant dbSNP:rs1297985227EnsemblClinVar.1
Natural variantiVAR_017040155R → L in BBS6; increases MKKS protein degradation; localizes properly to the centrosome. 2 PublicationsCorresponds to variant dbSNP:rs138111422Ensembl.1
Natural variantiVAR_038898181A → P in BBS6. 1 Publication1
Natural variantiVAR_017036236S → P in BBS6. 3 Publications1
Natural variantiVAR_038899237T → A in BBS6. 1 PublicationCorresponds to variant dbSNP:rs760185677Ensembl.1
Natural variantiVAR_038900237T → P in BBS6. 2 Publications1
Natural variantiVAR_009867242A → S in MKKS and BBS6; associated with Y-84 in MKKS; unknown pathological significance; increases MKKS protein degradation; no effect on ciliogenesis; disrupts import to the nucleus; no effect on interaction with SMARCC1; may affect modulation of SMARCC1 subcellular location. 8 PublicationsCorresponds to variant dbSNP:rs74315394EnsemblClinVar.1
Natural variantiVAR_009884277L → P in BBS6; moderately affects interaction with BBS2; greatly reduces the ability to interact with BBS12. 2 PublicationsCorresponds to variant dbSNP:rs74315398EnsemblClinVar.1
Natural variantiVAR_017037286D → A in BBS6; fails to associate with centrosome. 2 Publications1
Natural variantiVAR_066264299P → L in BBS6. 1 PublicationCorresponds to variant dbSNP:rs756083063Ensembl.1
Natural variantiVAR_038901325T → P Has a modifier effect on BBS; causes a mislocalization of the protein; fails to associate with centrosome. 3 PublicationsCorresponds to variant dbSNP:rs137853156EnsemblClinVar.1
Natural variantiVAR_017041339I → V3 PublicationsCorresponds to variant dbSNP:rs137853909EnsemblClinVar.1
Natural variantiVAR_017042345G → E in BBS6; increases MKKS protein degradation; fails to associate with centrosome; the mutant is highly polyubiquitinated and rapidly degraded by the ubiquitin-proteasome protein degradation pathway. 3 PublicationsCorresponds to variant dbSNP:rs779116830Ensembl.1
Natural variantiVAR_077208395H → R in BBS6; atypical mild phenotype consisting of retinitis pigmentosa and polydactyly without other signs of Bardet-Biedl syndrome; results in decreased interaction with BBS12. 1 PublicationCorresponds to variant dbSNP:rs912923677Ensembl.1
Natural variantiVAR_038902460S → P in BBS6. 1 Publication1
Natural variantiVAR_066265488A → T in a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS12; uncertain pathological role. 1 PublicationCorresponds to variant dbSNP:rs61734546EnsemblClinVar.1
Natural variantiVAR_038903492D → N in BBS6. 1 PublicationCorresponds to variant dbSNP:rs142327258EnsemblClinVar.1
Natural variantiVAR_013161499C → S in BBS6; causes both increased MKKS protein degradation and reduced solubility relative to wild-type and Tyr-84 mutant; localizes properly to the centrosome. 4 PublicationsCorresponds to variants dbSNP:rs281797259 and dbSNP:rs137853155EnsemblClinVarEnsembl.1
Natural variantiVAR_017038511S → A in BBS6. 1 Publication1
Natural variantiVAR_009868517R → C4 PublicationsCorresponds to variant dbSNP:rs1547EnsemblClinVar.1
Natural variantiVAR_017039518R → H in BBS6. 1 PublicationCorresponds to variant dbSNP:rs149051148EnsemblClinVar.1
Natural variantiVAR_009869532G → V3 PublicationsCorresponds to variant dbSNP:rs1545EnsemblClinVar.1

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
AF221992 mRNA Translation: AAF73872.1
AF221993 mRNA Translation: AAF73873.1
AK291925 mRNA Translation: BAF84614.1
AL157427 mRNA Translation: CAB75652.1
AL034430 Genomic DNA No translation available.
CH471133 Genomic DNA Translation: EAX10344.1
CH471133 Genomic DNA Translation: EAX10345.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS13111.1

Protein sequence database of the Protein Information Resource

More...
PIRi
T46911

NCBI Reference Sequences

More...
RefSeqi
NP_061336.1, NM_018848.3
NP_740754.1, NM_170784.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000347364; ENSP00000246062; ENSG00000125863
ENST00000399054; ENSP00000382008; ENSG00000125863
ENST00000651692; ENSP00000498849; ENSG00000125863

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
8195

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:8195

UCSC genome browser

More...
UCSCi
uc002wnt.3 human

Keywords - Coding sequence diversityi

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Mutations of the MKKS gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF221992 mRNA Translation: AAF73872.1
AF221993 mRNA Translation: AAF73873.1
AK291925 mRNA Translation: BAF84614.1
AL157427 mRNA Translation: CAB75652.1
AL034430 Genomic DNA No translation available.
CH471133 Genomic DNA Translation: EAX10344.1
CH471133 Genomic DNA Translation: EAX10345.1
CCDSiCCDS13111.1
PIRiT46911
RefSeqiNP_061336.1, NM_018848.3
NP_740754.1, NM_170784.2

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

BioGridi113837, 11 interactors
CORUMiQ9NPJ1
DIPiDIP-60349N
IntActiQ9NPJ1, 11 interactors
STRINGi9606.ENSP00000246062

PTM databases

iPTMnetiQ9NPJ1
PhosphoSitePlusiQ9NPJ1

Polymorphism and mutation databases

BioMutaiMKKS
DMDMi11133565

Proteomic databases

EPDiQ9NPJ1
MassIVEiQ9NPJ1
PaxDbiQ9NPJ1
PeptideAtlasiQ9NPJ1
PRIDEiQ9NPJ1
ProteomicsDBi82024

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
8195

Genome annotation databases

EnsembliENST00000347364; ENSP00000246062; ENSG00000125863
ENST00000399054; ENSP00000382008; ENSG00000125863
ENST00000651692; ENSP00000498849; ENSG00000125863
GeneIDi8195
KEGGihsa:8195
UCSCiuc002wnt.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
8195
DisGeNETi8195

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MKKS
GeneReviewsiMKKS
HGNCiHGNC:7108 MKKS
HPAiHPA041071
HPA044233
MalaCardsiMKKS
MIMi236700 phenotype
604896 gene
605231 phenotype
neXtProtiNX_Q9NPJ1
OpenTargetsiENSG00000125863
Orphaneti110 Bardet-Biedl syndrome
2473 McKusick-Kaufman syndrome
PharmGKBiPA30826

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0360 Eukaryota
COG0459 LUCA
GeneTreeiENSGT00390000007214
HOGENOMiHOG000013131
InParanoidiQ9NPJ1
KOiK09492
OMAiSRCGCGL
OrthoDBi1539473at2759
PhylomeDBiQ9NPJ1
TreeFamiTF329106

Enzyme and pathway databases

ReactomeiR-HSA-5620922 BBSome-mediated cargo-targeting to cilium

Miscellaneous databases

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

More...
ChiTaRSi
MKKS human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
MKKS

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

More...
GenomeRNAii
8195
PharosiQ9NPJ1

Protein Ontology

More...
PROi
PR:Q9NPJ1

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000125863 Expressed in 219 organ(s), highest expression level in middle temporal gyrus
GenevisibleiQ9NPJ1 HS

Family and domain databases

Gene3Di1.10.560.10, 1 hit
3.30.260.10, 1 hit
3.50.7.10, 1 hit
InterProiView protein in InterPro
IPR002423 Cpn60/TCP-1
IPR027409 GroEL-like_apical_dom_sf
IPR027413 GROEL-like_equatorial_sf
IPR028790 MKKS
IPR027410 TCP-1-like_intermed_sf
PANTHERiPTHR46787 PTHR46787, 1 hit
PfamiView protein in Pfam
PF00118 Cpn60_TCP1, 1 hit
SUPFAMiSSF48592 SSF48592, 1 hit
SSF52029 SSF52029, 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 nameiMKKS_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: Q9NPJ1
Secondary accession number(s): A8K7B0, D3DW18
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: October 1, 2000
Last modified: November 13, 2019
This is version 177 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
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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: 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. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again