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    MKS1 MKS transition zone complex subunit 1 [ Homo sapiens (human) ]

    Gene ID: 54903, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MKS1provided by HGNC
    Official Full Name
    MKS transition zone complex subunit 1provided by HGNC
    Primary source
    HGNC:HGNC:7121
    See related
    Ensembl:ENSG00000011143 MIM:609883; AllianceGenome:HGNC:7121
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MES; MKS; BBS13; POC12; JBTS28
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 6.0), ovary (RPKM 4.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MKS1 in Genome Data Viewer
    Location:
    17q22
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (58205441..58219255, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (59073328..59087136, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (56282802..56296616, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak2916 silencer Neighboring gene olfactory receptor family 4 subfamily D member 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:56261589-56262182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:56277441-56278284 Neighboring gene eosinophil peroxidase Neighboring gene NANOG hESC enhancer GRCh37_chr17:56286020-56286521 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12461 Neighboring gene uncharacterized LOC105371841 Neighboring gene uncharacterized LOC124904038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:56326145-56326710 Neighboring gene lactoperoxidase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. Paavola P, et al. Nat Genet, 1995 Oct. PMID 7550354
    2. Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. Frank V, et al. Hum Mutat, 2007 Jun. PMID 17437276
    3. Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies. Irfanullah, et al. Am J Med Genet A, 2016 Dec. PMID 27570071
    4. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Kyttälä M, et al. Nat Genet, 2006 Feb. PMID 16415886
    5. 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. Auber B, et al. Clin Genet, 2007 Nov. PMID 17935508

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Formation of the B9-domain protein complex MKS1-B9D2-B9D1 is essential as a diffusion barrier for ciliary membrane proteins.
      Title: Formation of the B9-domain protein complex MKS1-B9D2-B9D1 is essential as a diffusion barrier for ciliary membrane proteins.
    2. we have described a pathogenic variant in the MKS1 resulting in a mild Joubert syndrome phenotype, which broadens the spectrum of mutations in the MKS1.
      Title: Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.
    3. Dnah11(avc)(4) did not disrupt SHF Hh signaling and caused Atrioventricular septal defects (AVSDs) only concurrently with heterotaxy, a left/right axis abnormality. In contrast, Mks1(avc)(6) disrupted SHF Hh signaling and caused AVSDs without heterotaxy.We speculate that cilia gene mutations contribute to both syndromic and non-syndromic AVSDs in humans
      Title: Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.
    4. MKS1 functions in the transition zone at the base of the cilium to regulate ciliary INPP5E content.
      Title: MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
    5. describe four patients with mild Joubert phenotypes who carry pathogenic mutations in either MKS1 or B9D1, two genes previously implicated only in Meckel syndrome
      Title: Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
    7. Kidney tissue and cells from MKS1 and MKS3 patients showed defects in centrosome and cilia number, including multi-ciliated respiratory-like epithelia, and longer cilia.
      Title: Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.
    8. MKS-1 and MKS-1-related proteins 1 and 2 (MKSR-1, MKSR-2), localize to transition zones/basal bodies of sensory cilia; subcellular localization is largely co-dependent, pointing to a functional relationship between the proteins
      Title: Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.
    9. Mutations in MKS1 is associated with Bardet-Biedl syndrome
      Title: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
    10. Observational study of genotype prevalence. (HuGE Navigator)
      Title: 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.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Bardet-Biedl syndrome 13
    MedGen: C2673873 OMIM: 615990 GeneReviews: Bardet-Biedl Syndrome Overview
    		not available
    Joubert syndrome 28
    MedGen: C4310705 OMIM: 617121 GeneReviews: Joubert Syndrome
    		not available
    Meckel syndrome, type 1
    MedGen: C3714506 OMIM: 249000 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20345

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in branching morphogenesis of an epithelial tube IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cardiac septum morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in common bile duct development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in determination of left/right symmetry IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in embryonic brain development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in embryonic skeletal system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in epithelial structure maintenance IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in head development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in inner ear receptor cell stereocilium organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neural tube closure IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in non-motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of Wnt signaling pathway, planar cell polarity pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of MKS complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of MKS complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in centriole IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    tectonic-like complex member MKS1
    Names
    POC12 centriolar protein homolog
    meckel syndrome type 1 protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_013032.1 RefSeqGene

      Range
      5001..19170
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_687

    mRNA and Protein(s)

    1. NM_001321268.2 → NP_001308197.1  tectonic-like complex member MKS1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AK000352, AK301020, BE327525, DQ185029
      UniProtKB/TrEMBL
      B4DVC5
      Related
      ENSP00000442096.3, ENST00000537529.7
      Conserved Domains (1) summary
      pfam07162
      Location:116 → 289
      B9-C2; Ciliary basal body-associated, B9 protein

    2. NM_001321269.2 → NP_001308198.1  tectonic-like complex member MKS1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AK000352, BE327525, DQ185029
      Consensus CDS
      CCDS92364.1
      UniProtKB/TrEMBL
      A0A7I2V2M0
      Related
      ENSP00000502984.1, ENST00000678463.1
      Conserved Domains (1) summary
      pfam07162
      Location:319 → 462
      B9-C2; Ciliary basal body-associated, B9 protein

    3. NM_001330397.2 → NP_001317326.1  tectonic-like complex member MKS1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC005962, BE327525
      Consensus CDS
      CCDS82170.1
      UniProtKB/TrEMBL
      H0Y2S2, J3QQP4
      Related
      ENSP00000316631.6, ENST00000313863.11

    4. NM_001411113.1 → NP_001398042.1  tectonic-like complex member MKS1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC005962
      Consensus CDS
      CCDS92365.1
      UniProtKB/TrEMBL
      J3KSC6
      Related
      ENSP00000462423.2, ENST00000580127.6

    5. NM_017777.4 → NP_060247.2  tectonic-like complex member MKS1 isoform 1

      See identical proteins and their annotated locations for NP_060247.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
      Source sequence(s)
      AK000352, BE327525, DQ185029
      Consensus CDS
      CCDS11603.2
      UniProtKB/Swiss-Prot
      B7WNX4, F5H885, Q284T0, Q96G13, Q9NXB0
      UniProtKB/TrEMBL
      A0A7I2V4C1
      Related
      ENSP00000376827.2, ENST00000393119.7
      Conserved Domains (1) summary
      pfam07162
      Location:319 → 492
      B9-C2; Ciliary basal body-associated, B9 protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      58205441..58219255 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524957.3 → XP_011523259.1  tectonic-like complex member MKS1 isoform X1

      Conserved Domains (1) summary
      pfam07162
      Location:322 → 465
      B9-C2; Ciliary basal body-associated, B9 protein

    2. XM_011524958.3 → XP_011523260.1  tectonic-like complex member MKS1 isoform X2

      UniProtKB/TrEMBL
      A0A7I2V4C1
      Conserved Domains (1) summary
      pfam07162
      Location:322 → 495
      B9-C2; Ciliary basal body-associated, B9 protein

    3. XM_005257485.5 → XP_005257542.1  tectonic-like complex member MKS1 isoform X4

      Conserved Domains (1) summary
      pfam07162
      Location:176 → 319
      B9-C2; Ciliary basal body-associated, B9 protein

    4. XM_047436333.1 → XP_047292289.1  tectonic-like complex member MKS1 isoform X5

    5. XM_011524960.3 → XP_011523262.1  tectonic-like complex member MKS1 isoform X3

      UniProtKB/TrEMBL
      J3QQP4
      Conserved Domains (1) summary
      pfam07162
      Location:322 → 427
      B9-C2; Ciliary basal body-associated, B9 protein

    6. XM_047436335.1 → XP_047292291.1  tectonic-like complex member MKS1 isoform X7

      Related
      ENSP00000462129.2, ENST00000581761.6

    7. XM_047436334.1 → XP_047292290.1  tectonic-like complex member MKS1 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      59073328..59087136 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316580.1 → XP_054172555.1  tectonic-like complex member MKS1 isoform X1

    2. XM_054316581.1 → XP_054172556.1  tectonic-like complex member MKS1 isoform X2

    3. XM_054316583.1 → XP_054172558.1  tectonic-like complex member MKS1 isoform X4

    4. XM_054316584.1 → XP_054172559.1  tectonic-like complex member MKS1 isoform X5

    5. XM_054316582.1 → XP_054172557.1  tectonic-like complex member MKS1 isoform X3

    6. XM_054316586.1 → XP_054172561.1  tectonic-like complex member MKS1 isoform X7

    7. XM_054316585.1 → XP_054172560.1  tectonic-like complex member MKS1 isoform X6

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001165927.1: Suppressed sequence

      Description
      NM_001165927.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NXB0.2 GenPept UniProtKB/Swiss-Prot:Q9NXB0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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