MKS1 Gene (Protein Coding)

MKS Transition Zone Complex Subunit 1

GC17M058205
GIFtS:
41
The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] See more...

Aliases for MKS1 Gene

Aliases for MKS1 Gene

  • MKS Transition Zone Complex Subunit 1 2 3 5
  • Meckel Syndrome Type 1 Protein 3 4
  • POC12 Centriolar Protein Homolog (Chlamydomonas) 2
  • POC12 Centriolar Protein Homolog 3
  • Meckel Syndrome, Type 1 2
  • JBTS28 3
  • BBS13 3
  • POC12 3
  • MES 3
  • MKS 3

External Ids for MKS1 Gene

Previous HGNC Symbols for MKS1 Gene

  • MKS

Previous GeneCards Identifiers for MKS1 Gene

  • GC17U990060
  • GC17M053638
  • GC17M056282
  • GC17M051643

Summaries for MKS1 Gene

Entrez Gene Summary for MKS1 Gene

  • The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

GeneCards Summary for MKS1 Gene

MKS1 (MKS Transition Zone Complex Subunit 1) is a Protein Coding gene. Diseases associated with MKS1 include Meckel Syndrome, Type 1 and Bardet-Biedl Syndrome 13. Among its related pathways are Signaling by Hedgehog and Signaling by GPCR. An important paralog of this gene is B9D1.

UniProtKB/Swiss-Prot Summary for MKS1 Gene

  • 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.

Gene Wiki entry for MKS1 Gene

Additional gene information for MKS1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MKS1 Gene

Genomics for MKS1 Gene

GeneHancer (GH) Regulatory Elements for MKS1 Gene

Promoters and enhancers for MKS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MKS1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MKS1 gene promoter:
  • IRF-1
  • Meis-1
  • NF-kappaB
  • NF-kappaB1
  • Nkx6-1
  • p53
  • RelA
  • STAT3

Genomic Locations for MKS1 Gene

Genomic Locations for MKS1 Gene
chr17:58,205,436-58,219,605
(GRCh38/hg38)
Size:
14,170 bases
Orientation:
Minus strand
chr17:56,282,797-56,296,966
(GRCh37/hg19)
Size:
14,170 bases
Orientation:
Minus strand

Genomic View for MKS1 Gene

Genes around MKS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MKS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MKS1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MKS1 Gene

Proteins for MKS1 Gene

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  • Protein details for MKS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NXB0-MKS1_HUMAN
    Recommended name:
    Meckel syndrome type 1 protein
    Protein Accession:
    Q9NXB0
    Secondary Accessions:
    • B7WNX4
    • F5H885
    • Q284T0
    • Q96G13

    Protein attributes for MKS1 Gene

    Size:
    559 amino acids
    Molecular mass:
    64528 Da
    Quaternary structure:
    • 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).
    SequenceCaution:
    • Sequence=AAH10061.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA91105.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for MKS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MKS1 Gene

Protein Expression for MKS1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MKS1 Gene

  • Ubiquitination at Lys246 and Lys507
  • Modification sites at PhosphoSitePlus

Other Protein References for MKS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MKS1 Gene

Domains & Families for MKS1 Gene

Gene Families for MKS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for MKS1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MKS1 Gene

GenScript: Design optimal peptide antigens:
  • Meckel syndrome type 1 protein (MKS1_HUMAN)
genes like me logo Genes that share domains with MKS1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MKS1 Gene

Function for MKS1 Gene

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Molecular function for MKS1 Gene

UniProtKB/Swiss-Prot Function:
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.

Phenotypes From GWAS Catalog for MKS1 Gene

Gene Ontology (GO) - Molecular Function for MKS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17185389
genes like me logo Genes that share ontologies with MKS1: view
genes like me logo Genes that share phenotypes with MKS1: view

Human Phenotype Ontology for MKS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MKS1 Gene

MGI Knock Outs for MKS1:
  • Mks1 Mks1<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for MKS1 Gene

Localization for MKS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MKS1 Gene

Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000269 PubMed:26490104}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MKS1 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
nucleus 0

Gene Ontology (GO) - Cellular Components for MKS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 17185389
GO:0005813 centrosome IDA 19208769
GO:0005814 centriole IEA --
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MKS1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MKS1 Gene

Pathways & Interactions for MKS1 Gene

genes like me logo Genes that share pathways with MKS1: view

Pathways by source for MKS1 Gene

1 BioSystems pathway for MKS1 Gene

Gene Ontology (GO) - Biological Process for MKS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001843 neural tube closure IEA --
GO:0003271 smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation IEA --
GO:0003279 cardiac septum development IEA --
GO:0007224 smoothened signaling pathway IEA --
GO:0007368 determination of left/right symmetry IEA --
genes like me logo Genes that share ontologies with MKS1: view

No data available for SIGNOR curated interactions for MKS1 Gene

Drugs & Compounds for MKS1 Gene

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  1. Drug
No Compound Related Data Available

Transcripts for MKS1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MKS1 Gene

(5) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(140) Selected AceView cDNA sequences:
(13) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MKS1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b
SP1: - - - - - - -
SP2: -
SP3:
SP4:
SP5: -
SP6:

Relevant External Links for MKS1 Gene

GeneLoc Exon Structure for
MKS1
ECgene alternative splicing isoforms for
MKS1

Expression for MKS1 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MKS1 Gene

mRNA expression in normal human tissues for MKS1 Gene
mRNA expression by GTEx for MKS1 GenemRNA expression by BioGPS for MKS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MKS1 Gene

This gene is overexpressed in Adipocyte (53.4) and Retina (15.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MKS1 Gene



Protein tissue co-expression partners for MKS1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MKS1 Gene:

MKS1

SOURCE GeneReport for Unigene cluster for MKS1 Gene:

Hs.408843

Evidence on tissue expression from TISSUES for MKS1 Gene

  • Nervous system(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MKS1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pituitary gland
  • skull
  • tongue
  • tooth
Thorax:
  • aorta
  • breast
  • bronchus
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • adrenal gland
  • biliary tract
  • duodenum
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • placenta
  • prostate
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with MKS1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MKS1 Gene

Orthologs for MKS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MKS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia MKS1 33 32
  • 99.34 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia MKS1 33 32
  • 90.88 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia LOC101905689 32
  • 89.37 (n)
MKS1 33
  • 86 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Mks1 17 33 32
  • 86.8 (n)
rat
(Rattus norvegicus)
 Mammalia Mks1 32
  • 86.08 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia MKS1 33
  • 78 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia MKS1 33
  • 77 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves MKS1 33 32
  • 72.38 (n)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia mks1 32
  • 63.76 (n)
Str.19301 32
African clawed frog
(Xenopus laevis)
 Amphibia Xl.13433 32
zebrafish
(Danio rerio)
 Actinopterygii mks1 33 32
  • 63.99 (n)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta CG15730 33
  • 18 (a)
 OneToOne
sea squirt
(Ciona savignyi)
 Ascidiacea -- 33
  • 42 (a)
 OneToOne
Species where no ortholog for MKS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MKS1 Gene

ENSEMBL:
Gene Tree for MKS1 (if available)
TreeFam:
Gene Tree for MKS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MKS1: view image

Paralogs for MKS1 Gene

Paralogs for MKS1 Gene

genes like me logo Genes that share paralogs with MKS1: view

Variants for MKS1 Gene

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Sequence variations from dbSNP and Humsavar for MKS1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1031187314 uncertain-significance, Joubert syndrome, Meckel-Gruber syndrome 58,219,167(-) G/A/T 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs111315726 benign-likely-benign, benign, uncertain-significance, not specified, Joubert syndrome, Meckel-Gruber syndrome, not provided 58,206,519(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant
rs1114167302 likely-pathogenic, Joubert syndrome, - 58,216,687(-) C/A 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs11548967 uncertain-significance, benign, likely-benign, not provided, not specified, Meckel-Gruber syndrome, Bardet-Biedl syndrome 58,206,088(-) C/A/G/T 3_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant, synonymous_variant
rs116514023 benign, uncertain-significance, not specified, Meckel-Gruber syndrome, Bardet-Biedl syndrome 58,219,248(-) G/C 5_prime_UTR_variant, intron_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for MKS1 Gene

Variant ID Type Subtype PubMed ID
nsv457858 CNV loss 19166990
nsv517229 CNV gain+loss 19592680
nsv575797 CNV loss 21841781

Variation tolerance for MKS1 Gene

Residual Variation Intolerance Score: 72.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.35; 41.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MKS1 Gene

Human Gene Mutation Database (HGMD)
MKS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MKS1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MKS1 Gene

Disorders for MKS1 Gene

MalaCards: The human disease database

(24) MalaCards diseases for MKS1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
meckel syndrome, type 1
  • mks1
bardet-biedl syndrome 13
  • bbs13
joubert syndrome 28
  • jbts28
polydactyly
  • polydactyly, postaxial
joubert syndrome 1
  • jbts1
- elite association - COSMIC cancer census association via MalaCards
Search MKS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MKS1_HUMAN
  • Meckel syndrome 1 (MKS1) [MIM:249000]: A 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. {ECO:0000269 PubMed:16415886, ECO:0000269 PubMed:19466712, ECO:0000269 PubMed:26490104}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Bardet-Biedl syndrome 13 (BBS13) [MIM:615990]: A 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. {ECO:0000269 PubMed:18327255}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Joubert syndrome 28 (JBTS28) [MIM:617121]: A 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. {ECO:0000269 PubMed:24886560}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MKS1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MKS1: view

No data available for Genatlas for MKS1 Gene

Publications for MKS1 Gene

  1. Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. (PMID: 19208769) Bialas NJ … Leroux MR (Journal of cell science 2009) 3 4 23 56
  2. A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome. (PMID: 17935508) Auber B … Rehder H (Clinical genetics 2007) 3 23 43 56
  3. Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. (PMID: 17397051) Khaddour R … SOFFOET (Société Française de Foetopathologie) (Human mutation 2007) 3 23 43 56
  4. The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. (PMID: 17185389) Dawe HR … Johnson CA (Human molecular genetics 2007) 3 4 23 56
  5. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. (PMID: 16415886) Kyttälä M … Kestilä M (Nature genetics 2006) 2 3 4 56

ExternalLinks

View latest publications for MKS1 gene in Mastermind

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