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

Gene ID: 54903, updated on 3-Apr-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
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Genomic context

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Location:
17q22
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (58205441..58219255, complement)
RS_2023_10 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 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
  • 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. 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
  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. The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. Paavola P, et al. Nat Genet, 1995 Oct. PMID 7550354
  4. MKS1 regulates ciliary INPP5E levels in Joubert syndrome. Slaats GG, et al. J Med Genet, 2016 Jan. PMID 26490104, Free PMC Article
  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 (39) 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
Compare labs
Joubert syndrome 28
MedGen: C4310705 OMIM: 617121 GeneReviews: Joubert Syndrome
Compare labs
Meckel syndrome, type 1
MedGen: C3714506 OMIM: 249000 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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_2023_10

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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