MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: MCIDASprovided by HGNC
Official Full Name: multiciliate differentiation and DNA synthesis associated cell cycle proteinprovided by HGNC
Primary source: HGNC:HGNC:40050
See related: Ensembl:ENSG00000234602 MIM:614086; AllianceGenome:HGNC:40050
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: MCI; IDAS; MCIN; CILD42
Summary: 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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 5q11.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (55219564..55227315, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (56046854..56054605, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (54515392..54523143, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Bi-allelic mutations in MCIDAS and CCNO cause human infertility associated with abnormal gamete transport.
Title: Bi-allelic mutations in MCIDAS and CCNO cause human infertility associated with abnormal gamete transport.
Transcriptional regulation of multiciliated cell differentiation.
Title: Transcriptional regulation of multiciliated cell differentiation.
MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia.MCIDAS regulates CCNO and FOXJ1 expression.
Title: MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia.
The properties of the Idas-Geminin complex suggest it as the functional form of Idas and provide a possible mechanism to modulate Geminin activity
Title: The Geminin and Idas coiled coils preferentially form a heterodimer that inhibits Geminin function in DNA replication licensing.
Idas as a novel Geminin binding partner, implicated in cell cycle progression, and a putative regulator of proliferation-differentiation decisions during development.
Title: Idas, a novel phylogenetically conserved geminin-related protein, binds to geminin and is required for cell cycle progression.

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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
Ciliary dyskinesia, primary, 42 MedGen: C5231464 OMIM: 618695 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell cycle	IEA Inferred from Electronic Annotation more info
involved_in centriole assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in cilium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in motile cilium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in multi-ciliated epithelial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of DNA replication	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of DNA-templated DNA replication initiation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mitotic cell cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in nuclear body	IDA Inferred from Direct Assay more info
NOT located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: multicilin

Names: multiciliate cell differentiation 1; protein Idas

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.