CFAP100 Cilia And Flagella Associated Protein 100 [ (human)] - NCBI

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Create FileAdd to ClipboardAdd to Collections CFAP100 cilia and flagella associated protein 100 [ Homo sapiens (human) ] Gene ID: 348807, updated on 5-Feb-2026 Gene Sequences (FASTA) Transcript sequences (FASTA) Protein sequences(FASTA)

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Summary

Go to the top of the page Help Official Symbol CFAP100provided by HGNC Official Full Name cilia and flagella associated protein 100provided by HGNC Primary source HGNC:HGNC:26842 See related Ensembl:ENSG00000163885 MIM:621398; AllianceGenome:HGNC:26842 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MIA1; CCDC37 Summary Predicted to enable dynein complex binding activity. Predicted to be involved in cilium movement and inner dynein arm assembly. Located in ciliary basal body. [provided by Alliance of Genome Resources, Jul 2025] Expression Biased expression in testis (RPKM 3.6) and lung (RPKM 1.4) See more Orthologs all Try the new Gene page Try the new Transcripts and proteins table

Genomic context

Go to the top of the page Help See CFAP100 in Genome Data Viewer Location: 3q21.3 Exon count: 21
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (126394909..126436556)
RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (129127425..129169110)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (126113752..126155399)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence: NC_000003.12 Chromosome 3 Reference GRCh38.p14 Primary Assembly NC_060927.1 Chromosome 3 Alternate T2T-CHM13v2.0 NC_000003.11 Chromosome 3 Reference GRCh37.p13 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help See details Tissue-specific circular RNA induction during human fetal development RNA sequencing of total RNA from 20 human tissues HPA RNA-seq normal tissues
  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. The Bacillus cereus toxin alveolysin disrupts the intestinal epithelial barrier by inducing microtubule disorganization through CFAP100. Sun S, et al. Sci Signal, 2023 May 16. PMID 37192300
  2. The MIA complex is a conserved and novel dynein regulator essential for normal ciliary motility. Yamamoto R, et al. J Cell Biol, 2013 Apr 15. PMID 23569216, Free PMC Article
  3. CFAP100 couples microtubule glutamylation to spindle pole integrity in keratinocytes to promote epidermal development. Sun S, et al. Nat Commun, 2025 Jul 1. PMID 40593606, Free PMC Article
  4. Genome-wide analysis of DNA methylation and the gene expression change in lung cancer. Kwon YJ, et al. J Thorac Oncol, 2012 Jan. PMID 22011669
  5. Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways. Sigg MA, et al. Dev Cell, 2017 Dec 18. PMID 29257953, Free PMC Article

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. We confirmed that the expression of CCDC37 in squamous cell carcinoma is regulated by DNA methylation of its specific promoter region. Title: Genome-wide analysis of DNA methylation and the gene expression change in lung cancer.
Submit: New GeneRIF Correction

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

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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Markers

  • RH92086 (e-PCR)
    • UniSTS:92035
  • SHGC-155269 (e-PCR)
    • UniSTS:183740

Homology

  • NCBI Orthologs
    • Orthologs from OrthoDB

Clone Names

  • FLJ40083, MGC120558

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables dynein complex binding ISS Inferred from Sequence or Structural Similaritymore info  
enables microtubule binding IMP Inferred from Mutant Phenotypemore info PubMed 
enables protein binding IPI Inferred from Physical Interactionmore info PubMed 
Process Evidence Code Pubs
involved_in chromosome segregation IEA Inferred from Electronic Annotationmore info  
involved_in chromosome segregation IMP Inferred from Mutant Phenotypemore info PubMed 
involved_in cilium movement ISS Inferred from Sequence or Structural Similaritymore info  
involved_in inner dynein arm assembly ISS Inferred from Sequence or Structural Similaritymore info  
involved_in keratinocyte proliferation IEA Inferred from Electronic Annotationmore info  
involved_in keratinocyte proliferation IMP Inferred from Mutant Phenotypemore info PubMed 
involved_in microtubule cytoskeleton organization IDA Inferred from Direct Assaymore info PubMed 
involved_in microtubule polymerization IDA Inferred from Direct Assaymore info PubMed 
involved_in mitotic spindle organization IEA Inferred from Electronic Annotationmore info  
involved_in mitotic spindle organization IMP Inferred from Mutant Phenotypemore info PubMed 
involved_in skin epidermis development IEA Inferred from Electronic Annotationmore info  
involved_in skin epidermis development ISS Inferred from Sequence or Structural Similaritymore info  
Component Evidence Code Pubs
located_in axonemal doublet microtubule ISS Inferred from Sequence or Structural Similaritymore info  
located_in axoneme IEA Inferred from Electronic Annotationmore info  
is_active_in ciliary basal body IBA Inferred from Biological aspect of Ancestormore info  
located_in ciliary basal body IDA Inferred from Direct Assaymore info PubMed 
located_in cytoskeleton IEA Inferred from Electronic Annotationmore info  
located_in microtubule IDA Inferred from Direct Assaymore info PubMed 
located_in motile cilium ISS Inferred from Sequence or Structural Similaritymore info  
located_in spindle pole IDA Inferred from Direct Assaymore info PubMed 
located_in spindle pole IEA Inferred from Electronic Annotationmore info  

General protein information

Go to the top of the page Help Preferred Names cilia- and flagella-associated protein 100 Names coiled-coil domain containing 37 coiled-coil domain-containing protein 37

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

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.

mRNA and Protein(s)

  1. NM_182628.3 → NP_872434.2  cilia- and flagella-associated protein 100

    See identical proteins and their annotated locations for NP_872434.2

    Status: VALIDATED

    Source sequence(s) AC063919, AC073439, AK097402, BC101367 Consensus CDS CCDS3037.1 UniProtKB/Swiss-Prot D3DNA8, Q494V1, Q494V2, Q494V4, Q8N838 Related ENSP00000344749.1, ENST00000352312.6 Conserved Domains (1) summary pfam13863Location:151 → 269 DUF4200; Domain of unknown function (DUF4200)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range 126394909..126436556 Download GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006322.2 → XP_016861811.1  cilia- and flagella-associated protein 100 isoform X2

  2. XM_017006321.2 → XP_016861810.1  cilia- and flagella-associated protein 100 isoform X1

  3. XM_017006323.2 → XP_016861812.1  cilia- and flagella-associated protein 100 isoform X3

  4. XM_017006325.2 → XP_016861814.1  cilia- and flagella-associated protein 100 isoform X4

  5. XM_017006327.2 → XP_016861816.1  cilia- and flagella-associated protein 100 isoform X6

  6. XM_017006326.2 → XP_016861815.1  cilia- and flagella-associated protein 100 isoform X5

RNA

  1. XR_007095676.1 RNA Sequence

  2. XR_001740141.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range 129127425..129169110 Download GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054346443.1 → XP_054202418.1  cilia- and flagella-associated protein 100 isoform X2

  2. XM_054346442.1 → XP_054202417.1  cilia- and flagella-associated protein 100 isoform X1

  3. XM_054346444.1 → XP_054202419.1  cilia- and flagella-associated protein 100 isoform X3

  4. XM_054346445.1 → XP_054202420.1  cilia- and flagella-associated protein 100 isoform X4

  5. XM_054346447.1 → XP_054202422.1  cilia- and flagella-associated protein 100 isoform X6

  6. XM_054346446.1 → XP_054202421.1  cilia- and flagella-associated protein 100 isoform X5

RNA

  1. XR_008486713.1 RNA Sequence

  2. XR_008486714.1 RNA Sequence

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Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q494V2.1 GenPept UniProtKB/Swiss-Prot:Q494V2
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Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
  • Interologous Interaction Database
    • Interologous Interaction Database
Molecular Biology Databases
  • Bgee database
    • CFAP100 gene expression
  • BioGPS
    • BioGPS
  • BioGRID Open Repository of CRISPR Screens (ORCS)
    • BioGRID CRISPR Screen Phenotypes (9 hits/1336 screens)
  • CTD: Comparative Toxicogenomics Database
    • CTD: Comparative Toxicogenomics Database - CFAP100
  • Eukaryotic Promoter Database
    • CCDC37_1
  • GlyGen glycoinformatics resource
    • GlyGen glycoinformatics resource
  • Human eFP Browser
    • Human eFP Browser
    • Human eFP Browser
    • Human eFP Browser
  • Ingenuity Pathways Analysis
    • Ingenuity Pathways Analysis
  • InnateDB
    • InnateDB
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  • Kyoto Encyclopedia of Genes and Genomes
    • Kyoto Encyclopedia of Genes and Genomes
  • OMA Browser: Orthologous MAtrix
    • OMA Browser: Orthologous MAtrix
    • OMA Browser: Orthologous MAtrix
  • OrthoDB catalog of orthologs
    • Orthologs
  • PhosphoSitePlus
    • PhosphoSitePlus® - comprehensive post-translational modification resource
  • The Weizmann Institute of Science GeneCards and MalaCards databases
    • GeneCard for CFAP100
Research Materials
  • Addgene Non-profit plasmid repository
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  • OriGene Technologies
    • Order GeneID 348807 cDNA Clone|Lysate|Protein|Antibody|RNAi
Tools
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    • GeneMANIA
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Supplemental Content

Table of contents

  • Summary
  • Genomic context
  • Genomic regions, transcripts, and products
  • Expression
  • Bibliography
  • Phenotypes
  • Variation
  • Interactions
  • General gene information Markers, Clone Names, Homology, Gene Ontology
  • General protein information
  • NCBI Reference Sequences (RefSeq)
  • Related sequences
  • Additional links

Genome Browsers

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Related information

  • Order cDNA clone Order cDNA clone
  • BioAssay by Target (List) BioAssays related to the gene by protein target or RNAi target
  • BioAssay, by Gene target PubChem BioAssays done on the Gene target
  • BioAssays, RNAi Target, Tested BioAssays that contain the gene as the target of a RNAi reagent
  • BioProjects BioProjects related to a gene
  • CCDS Link to CCDS
  • ClinVar Related medical variations
  • Conserved Domains Related CDD
  • dbVar Link from Gene to dbVar
  • Full text in PMC PMC links
  • Full text in PMC_nucleotide Full text in PubMedCentral identified from shared sequence links
  • Functional Class Functional class of the sequence domain architecture
  • Gene neighbors Overlapping genes and two nearest non-overlapping genes on either side
  • Genes with a similar H3K4me3 profile Genes with a similar profile of promoter-activating H3K4me3 modifications across several tissue types
  • Genome Related Genome
  • GEO Profiles Related GEO
  • GTR Tests for this gene in the NIH Genetic Testing Registry
  • HomoloGene Related HomoloGene
  • Nucleotide Link to related Nucleotide entry
  • OMIM Link to related OMIM entry
  • Protein Link to related protein entry
  • PubChem Compound PubChem Compounds
  • PubChem Substance PubChem Substances
  • PubMed Link to related PubMed entry
  • PubMed (GeneRIF) Link to related PubMed article from GeneRIFs
  • PubMed (OMIM) Gene links to PubMed derived from omim_pubmed_cited links
  • PubMed(nucleotide/PMC) Citations in PubMed identified from shared sequence and PMC links.
  • RefSeq Proteins Link to Protein RefSeqs
  • RefSeq RNAs Link to Nucleotide RefSeq RNAs
  • SNP Related SNP records
  • Taxonomy Link to related taxonomy entry
  • Variation Viewer Related Variants

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