MCIDAS
Multicilin
Also known as: IDAS, MCI, MCIN, MCIN_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- D6RGH6
- Gene
- MCIDAS
- Ensembl
- ENSG00000234602
- Chromosome
- 5
- Canonical length
- 385 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nuclear bodies
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene encodes a member of the geminin family of proteins. The encoded nuclear protein is required for the generation of multiciliated cells in respiratory epithelium. Mutations in this gene cause a rare mucociliary clearance disorder associated with recurring respiratory infections in human patients, known as reduced generation of multiple motile cilia (RGMC). [provided by RefSeq, Sep 2016]
Canonical amino-acid sequenceUniProt
385 residues, UniProt reviewed canonical sequence.
>D6RGH6|MCIDAS
1 MQACGGGAAG RRAFDSICPN RMLALPGRAL LCKPGKPERK FAPPRKFFPG CTGGSPVSVY
61 EDPPDAEPTA LPALTTIDLQ DLADCSSLLG SDAPPGGDLA ASQNHSHQTE ADFNLQDFRD
121 TVDDLISDSS SMMSPTLASG DFPFSPCDIS PFGPCLSPPL DPRALQSPPL RPPDVPPPEQ
181 YWKEVADQNQ RALGDALVEN NQLHVTLTQK QEEIASLKER NVQLKELASR TRHLASVLDK
241 LMITQSRDCG AAAEPFLLKA KAKRSLEELV SAAGQDCAEV DAILREISER CDEALQSRDP
301 KRPRLLPEPA NTDTRPGNLH GAFRGLRTDC SRSALNLSHS ELEEGGSFST RIRSHSTIRT
361 LAFPQGNAFT IRTANGGYKF RWVPSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MCIDAS 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)
- 0.63
- Highest tissue expression
- 2.6 nTPM
Expression across tissuesHPA
Tissue
- parathyroid gland: 2.6 nTPM
- stomach: 1.1 nTPM
- thyroid gland: 0.8 nTPM
- pancreas: 0.5 nTPM
- epididymis: 0.2 nTPM
- fallopian tube: 0.2 nTPM
Single-cell type
- respiratory deuterosomal cells: 57 nCPM
- respiratory secretory cells: 7.3 nCPM
- gastric chief cells: 2.2 nCPM
- foveolar cells: 1.9 nCPM
- respiratory basal cells: 1.4 nCPM
- gastric progenitor cells: 1.3 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- choroid plexus: 0.6 nTPM
- basal ganglia: 0.5 nTPM
- cerebral cortex: 0.3 nTPM
- white matter: 0.2 nTPM
- amygdala: 0.1 nTPM
- cerebellum: 0.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MCIDAS.
Disease | AllUniProt
Conditions MCIDAS is implicated in, by any mechanism.
- Ciliary dyskinesia, primary, 42 (CILD42) MIM:618695
Disease | GeneticClinVar
17 pathogenic / likely-pathogenic of 239 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Primary ciliary dyskinesia
- Ciliary dyskinesia, primary, 42
- Primary ciliary dyskinesia 3
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)
- 0.87
- gnomAD pLI
- 0.01
- gnomAD missense Z
- 1.88
- DepMap mean gene effect
- -0.21
- DepMap dependency class
- selective
OntologyGO
Biological processes
- centriole assembly
- cilium assembly
- motile cilium assembly
- multi-ciliated epithelial cell differentiation
- negative regulation of cell cycle
- positive regulation of DNA-templated transcription
- positive regulation of transcription by RNA polymerase II
- regulation of cilium assembly
- regulation of DNA-templated DNA replication initiation
- regulation of mitotic cell cycle
- seminiferous tubule development
- single fertilization
- spermatogenesis
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MCIDAS as an antibody target. Whether an autoantibody or antibody against MCIDAS could matter depends on whether native MCIDAS is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MCIDAS 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 MCIDAS as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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