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

Gene ID: 54903, updated on 23-Nov-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
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Genomic context

See MKS1 in Genome Data Viewer
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

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
 
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

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_001321268.2NP_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: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/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, J3QQP4
    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, J3QQP4
    Related
    ENSP00000462423.2, ENST00000580127.6
  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
    B7WNX4, F5H885, Q284T0, Q96G13, Q9NXB0
    UniProtKB/TrEMBL
    A0A7I2V4C1
    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_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_011524957.3XP_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

    UniProtKB/TrEMBL
    A0A7I2V4C1
    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

    UniProtKB/TrEMBL
    J3QQP4
    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

    UniProtKB/TrEMBL
    A0A7I2V561
    Related
    ENSP00000462129.2, ENST00000581761.6
  7. XM_047436334.1XP_047292290.1  tectonic-like complex member MKS1 isoform X6

    UniProtKB/TrEMBL
    A0A7I2V561

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

    UniProtKB/TrEMBL
    A0A7I2V4C1
  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

    UniProtKB/TrEMBL
    J3QQP4
  6. XM_054316586.1XP_054172561.1  tectonic-like complex member MKS1 isoform X7

    UniProtKB/TrEMBL
    A0A7I2V561
  7. XM_054316585.1XP_054172560.1  tectonic-like complex member MKS1 isoform X6

    UniProtKB/TrEMBL
    A0A7I2V561

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.