Seroatlas · Human Serome Atlas

MKKS

Molecular chaperone MKKS

Also known as: BBS6, MKKS_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9NPJ1
Gene
MKKS
Ensembl
ENSG00000125863
Chromosome
20
Canonical length
570 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Centrosome,Basal body

OverviewNCBI Gene

This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2023]

Canonical amino-acid sequenceUniProt

570 residues, UniProt reviewed canonical sequence.

>Q9NPJ1|MKKS
     1  MSRLEAKKPS LCKSEPLTTE RVRTTLSVLK RIVTSCYGPS GRLKQLHNGF GGYVCTTSQS
    61  SALLSHLLVT HPILKILTAS IQNHVSSFSD CGLFTAILCC NLIENVQRLG LTPTTVIRLN
   121  KHLLSLCISY LKSETCGCRI PVDFSSTQIL LCLVRSILTS KPACMLTRKE TEHVSALILR
   181  AFLLTIPENA EGHIILGKSL IVPLKGQRVI DSTVLPGILI EMSEVQLMRL LPIKKSTALK
   241  VALFCTTLSG DTSDTGEGTV VVSYGVSLEN AVLDQLLNLG RQLISDHVDL VLCQKVIHPS
   301  LKQFLNMHRI IAIDRIGVTL MEPLTKMTGT QPIGSLGSIC PNSYGSVKDV CTAKFGSKHF
   361  FHLIPNEATI CSLLLCNRND TAWDELKLTC QTALHVLQLT LKEPWALLGG GCTETHLAAY
   421  IRHKTHNDPE SILKDDECTQ TELQLIAEAF CSALESVVGS LEHDGGEILT DMKYGHLWSV
   481  QADSPCVANW PDLLSQCGCG LYNSQEELNW SFLRSTRRPF VPQSCLPHEA VGSASNLTLD
   541  CLTAKLSGLQ VAVETANLIL DLSYVIEDKN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MKKS 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)
0.26
Highest tissue expression
38 nTPM

Expression across tissuesHPA

Tissue

  • tongue: 38 nTPM
  • kidney: 27 nTPM
  • liver: 24 nTPM
  • parathyroid gland: 24 nTPM
  • skeletal muscle: 23 nTPM
  • cerebellum: 22 nTPM

Single-cell type

  • parietal cells: 113 nCPM
  • late primary spermatocytes: 94 nCPM
  • choroid plexus epithelial cells: 74 nCPM
  • hepatocytes: 53 nCPM
  • cholangiocytes: 48 nCPM
  • brain inhibitory neurons: 47 nCPM

Immune cell

  • basophil: 20 nTPM
  • non-classical monocyte: 17 nTPM
  • myeloid DC: 17 nTPM
  • total PBMC: 16 nTPM
  • classical monocyte: 16 nTPM
  • naive CD4 T-cell: 15 nTPM

Brain region

  • choroid plexus: 27 nTPM
  • cerebral cortex: 23 nTPM
  • cerebellum: 23 nTPM
  • hypothalamus: 22 nTPM
  • pons: 21 nTPM
  • basal ganglia: 20 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MKKS.

Disease | AllUniProt

Conditions MKKS is implicated in, by any mechanism.

Disease | GeneticClinVar

126 pathogenic / likely-pathogenic of 685 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)
1.29
gnomAD pLI
0
gnomAD missense Z
-0.05
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

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

MKKS 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 MKKS as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MKKS. 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).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...