Seroatlas · Human Serome Atlas

MKS1

Tectonic-like complex member MKS1

Also known as: BBS13, FLJ20345, MKS, MKS1_HUMAN, POC12

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9NXB0
Gene
MKS1
Ensembl
ENSG00000011143
Chromosome
17
Canonical length
559 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location
Nucleoplasm,Nucleoli,Basal body

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

559 residues, UniProt reviewed canonical sequence.

>Q9NXB0|MKS1
     1  MAETVWSTDT GEAVYRSRDP VRNLRLRVHL QRITSSNFLH YQPAAELGKD LIDLATFRPQ
    61  PTASGHRPEE DEEEEIVIGW QEKLFSQFEV DLYQNETACQ SPLDYQYRQE ILKLENSGGK
   121  KNRRIFTYTD SDRYTNLEEH CQRMTTAASE VPSFLVERMA NVRRRRQDRR GMEGGILKSR
   181  IVTWEPSEEF VRNNHVINTP LQTMHIMADL GPYKKLGYKK YEHVLCTLKV DSNGVITVKP
   241  DFTGLKGPYR IETEGEKQEL WKYTIDNVSP HAQPEEEERE RRVFKDLYGR HKEYLSSLVG
   301  TDFEMTVPGA LRLFVNGEVV SAQGYEYDNL YVHFFVELPT AHWSSPAFQQ LSGVTQTCTT
   361  KSLAMDKVAH FSYPFTFEAF FLHEDESSDA LPEWPVLYCE VLSLDFWQRY RVEGYGAVVL
   421  PATPGSHTLT VSTWRPVELG TVAELRRFFI GGSLELEDLS YVRIPGSFKG ERLSRFGLRT
   481  ETTGTVTFRL HCLQQSRAFM ESSSLQKRMR SVLDRLEGFS QQSSIHNVLE AFRRARRRMQ
   541  EARESLPQDL VSPSGTLVS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MKS1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.38
Highest tissue expression
13 nTPM

Expression across tissuesHPA

Tissue

  • fallopian tube: 13 nTPM
  • salivary gland: 8.6 nTPM
  • ovary: 7.8 nTPM
  • testis: 7.2 nTPM
  • choroid plexus: 6.9 nTPM
  • retina: 6.1 nTPM

Single-cell type

  • respiratory ciliated cells: 46 nCPM
  • ependymal cells: 33 nCPM
  • fallopian tube ciliated cells: 33 nCPM
  • endometrial ciliated cells: 25 nCPM
  • tuft cells: 23 nCPM
  • adrenal cortex cells: 22 nCPM

Immune cell

  • NK-cell: 16 nTPM
  • myeloid DC: 13 nTPM
  • basophil: 12 nTPM
  • memory CD4 T-cell: 9.7 nTPM
  • memory CD8 T-cell: 9.3 nTPM
  • naive CD4 T-cell: 9 nTPM

Brain region

  • cerebellum: 17 nTPM
  • white matter: 15 nTPM
  • medulla oblongata: 14 nTPM
  • cerebral cortex: 14 nTPM
  • midbrain: 13 nTPM
  • pons: 12 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MKS1.

Disease | AllUniProt

Conditions MKS1 is implicated in, by any mechanism.

Disease | GeneticClinVar

182 pathogenic / likely-pathogenic of 1,172 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.04
gnomAD pLI
0
gnomAD missense Z
0.49
DepMap mean gene effect
-0.05
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MKS1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MKS1 as an antibody target. Whether an autoantibody or antibody against MKS1 could matter depends on whether native MKS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MKS1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MKS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MKS1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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