U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 54903, updated on 29-Mar-2023

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MKS1 in Genome Data Viewer
    Location:
    17q22
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (58205441..58219255, complement)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (59073328..59087136, complement)
    105.20220307 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 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 uncharacterized LOC105371841 Neighboring gene uncharacterized LOC124904038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:56326145-56326710 Neighboring gene lactoperoxidase

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
    PubMed 
    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 involved in dorsal/ventral neural tube patterning 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
    PubMed 
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001321268.2NP_001308197.1  tectonic-like complex member MKS1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AK000352, AK301020, BE327525, DQ185029
      UniProtKB/Swiss-Prot
      Q9NXB0
      UniProtKB/TrEMBL
      B4DVC5
      Related
      ENSP00000442096.3, ENST00000537529.7
      Conserved Domains (1) summary
      pfam07162
      Location:116289
      B9-C2; Ciliary basal body-associated, B9 protein
    2. NM_001321269.2NP_001308198.1  tectonic-like complex member MKS1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AK000352, BE327525, DQ185029
      Consensus CDS
      CCDS92364.1
      UniProtKB/Swiss-Prot
      Q9NXB0
      UniProtKB/TrEMBL
      A0A7I2V2M0
      Related
      ENSP00000502984.1, ENST00000678463.1
      Conserved Domains (1) summary
      pfam07162
      Location:319462
      B9-C2; Ciliary basal body-associated, B9 protein
    3. NM_001330397.2NP_001317326.1  tectonic-like complex member MKS1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC005962, BE327525
      Consensus CDS
      CCDS82170.1
      UniProtKB/TrEMBL
      H0Y2S2
      Related
      ENSP00000316631.6, ENST00000313863.11
    4. NM_001411113.1NP_001398042.1  tectonic-like complex member MKS1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC005962
      Consensus CDS
      CCDS92365.1
      UniProtKB/TrEMBL
      J3KSC6
    5. NM_017777.4NP_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
      Q96G13, Q9NXB0
      Related
      ENSP00000376827.2, ENST00000393119.7
      Conserved Domains (1) summary
      pfam07162
      Location:319492
      B9-C2; Ciliary basal body-associated, B9 protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

    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_011524957.3XP_011523259.1  tectonic-like complex member MKS1 isoform X1

      Conserved Domains (1) summary
      pfam07162
      Location:322465
      B9-C2; Ciliary basal body-associated, B9 protein
    2. XM_011524958.3XP_011523260.1  tectonic-like complex member MKS1 isoform X2

      Conserved Domains (1) summary
      pfam07162
      Location:322495
      B9-C2; Ciliary basal body-associated, B9 protein
    3. XM_005257485.5XP_005257542.1  tectonic-like complex member MKS1 isoform X4

      Conserved Domains (1) summary
      pfam07162
      Location:176319
      B9-C2; Ciliary basal body-associated, B9 protein
    4. XM_047436333.1XP_047292289.1  tectonic-like complex member MKS1 isoform X5

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

      Conserved Domains (1) summary
      pfam07162
      Location:322427
      B9-C2; Ciliary basal body-associated, B9 protein
    6. XM_047436335.1XP_047292291.1  tectonic-like complex member MKS1 isoform X7

      Related
      ENSP00000462129.2, ENST00000581761.6
    7. XM_047436334.1XP_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_054316580.1XP_054172555.1  tectonic-like complex member MKS1 isoform X1

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

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

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

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

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

    7. XM_054316585.1XP_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.