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CFAP221 cilia and flagella associated protein 221 [ Homo sapiens (human) ]

Gene ID: 200373, updated on 5-Mar-2024

Summary

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Official Symbol
CFAP221provided by HGNC
Official Full Name
cilia and flagella associated protein 221provided by HGNC
Primary source
HGNC:HGNC:33720
See related
Ensembl:ENSG00000163075 MIM:618704; AllianceGenome:HGNC:33720
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
PCDP1; FAP221
Summary
Predicted to enable calmodulin binding activity. Predicted to be involved in cilium assembly. Predicted to act upstream of or within cerebrospinal fluid circulation; motile cilium assembly; and mucociliary clearance. Predicted to be located in axoneme; extracellular region; and sperm flagellum. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 7.5), lung (RPKM 1.6) and 9 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
2q14.2
Exon count:
31
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (119544449..119660323)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (119977951..120093833)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (120302025..120414237)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11905 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:120189865-120190371 Neighboring gene transmembrane protein 37 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:120231245-120231796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:120232347-120232897 Neighboring gene secretin receptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:120238515-120239026 Neighboring gene VISTA enhancer hs1941 Neighboring gene SCTR antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16452 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11907 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11908 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11909 Neighboring gene MPRA-validated peak3833 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11910 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11911 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:120457784-120458983 Neighboring gene transmembrane protein 177 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:120459450-120460055 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:120460663-120461267 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:120472887-120473388 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:120473389-120473888 Neighboring gene ribosomal protein L17 pseudogene 15 Neighboring gene uncharacterized LOC101927764 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11912 Neighboring gene Sharpr-MPRA regulatory region 5959

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia. Bustamante-Marin XM, et al. J Hum Genet, 2020 Jan. PMID 31636325, Free PMC Article
  2. Pcdp1 is a central apparatus protein that binds Ca(2+)-calmodulin and regulates ciliary motility. DiPetrillo CG, et al. J Cell Biol, 2010 May 3. PMID 20421426, Free PMC Article
  3. Primary ciliary dyskinesia in mice lacking the novel ciliary protein Pcdp1. Lee L, et al. Mol Cell Biol, 2008 Feb. PMID 18039845, Free PMC Article
  4. Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. Lee JH, et al. Respir Res, 2014 Sep 21. PMID 25241909, Free PMC Article
  5. Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. Lesch KP, et al. J Neural Transm (Vienna), 2008 Nov. PMID 18839057

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. These results show that genetic variants in CFAP221 cause Pprimary ciliary dyskinesia (PCD) and that CFAP221 should be considered a candidate gene in cases where PCD is suspected but cilia structure and beat frequency appear normal.
    Title: Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  3. plays an important role in ciliary and flagellar biogenesis and motility sperm flagella and the cilia of respiratory epithelial cells and brain ependymal cells in both mice and humans
    Title: Primary ciliary dyskinesia in mice lacking the novel ciliary protein Pcdp1.
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

EBI GWAS Catalog

Description
Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.
EBI GWAS Catalog
Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Markers

Homology

Clone Names

  • MGC33657

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calmodulin binding ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in cerebrospinal fluid circulation IEA
Inferred from Electronic Annotation
more info
  
involved_in cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in establishment of localization in cell IEA
Inferred from Electronic Annotation
more info
  
involved_in motile cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mucociliary clearance IEA
Inferred from Electronic Annotation
more info
  
involved_in sperm flagellum assembly IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in 9+2 motile cilium IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in axoneme ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cilium ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
located_in manchette ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in sperm flagellum IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
cilia- and flagella-associated protein 221
Names
flagellar associated protein 221 homolog
primary ciliary dyskinesia 1 homolog
primary ciliary dyskinesia protein 1

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.

mRNA and Protein(s)

  1. NM_001271049.2 → NP_001257978.2  cilia- and flagella-associated protein 221

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the supported protein. This variant lacks full-length human transcript support; its exon combination is inferred from orthologous transcript alignments.
    Source sequence(s)
    AC013275, AC069154, AC104817
    Consensus CDS
    CCDS33282.2
    UniProtKB/Swiss-Prot
    B4DEK0, B4E2T5, Q4G0U5
    Related
    ENSP00000393222.2, ENST00000413369.8

RNA

  1. NR_073132.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an additional exon in the central region, compared to variant 1. This variant is represented as non-coding because use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC013275, AC069154, AC104817
    Related
    ENST00000295220.10

  2. NR_073133.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate internal exon in the 5' region, and lacks several 3' exons but includes an alternate 3' exon, compared to variant 1. This variant is represented as non-coding because use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC013275, AC069154, AC104817
    Related
    ENST00000413057.6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    119544449..119660323
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006712353.4 → XP_006712416.1  cilia- and flagella-associated protein 221 isoform X2

    See identical proteins and their annotated locations for XP_006712416.1

    UniProtKB/Swiss-Prot
    B4DEK0, B4E2T5, Q4G0U5

  2. XM_017003551.2 → XP_016859040.1  cilia- and flagella-associated protein 221 isoform X1

  3. XM_017003550.2 → XP_016859039.1  cilia- and flagella-associated protein 221 isoform X1

  4. XM_017003558.2 → XP_016859047.1  cilia- and flagella-associated protein 221 isoform X4

  5. XM_047443619.1 → XP_047299575.1  cilia- and flagella-associated protein 221 isoform X6

  6. XM_017003552.2 → XP_016859041.1  cilia- and flagella-associated protein 221 isoform X1

  7. XM_017003553.3 → XP_016859042.1  cilia- and flagella-associated protein 221 isoform X1

  8. XM_047443618.1 → XP_047299574.1  cilia- and flagella-associated protein 221 isoform X3

  9. XM_017003559.2 → XP_016859048.1  cilia- and flagella-associated protein 221 isoform X5

RNA

  1. XR_922883.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    119977951..120093833
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340928.1 → XP_054196903.1  cilia- and flagella-associated protein 221 isoform X2

  2. XM_054340924.1 → XP_054196899.1  cilia- and flagella-associated protein 221 isoform X1

  3. XM_054340930.1 → XP_054196905.1  cilia- and flagella-associated protein 221 isoform X4

  4. XM_054340932.1 → XP_054196907.1  cilia- and flagella-associated protein 221 isoform X6

  5. XM_054340925.1 → XP_054196900.1  cilia- and flagella-associated protein 221 isoform X1

  6. XM_054340926.1 → XP_054196901.1  cilia- and flagella-associated protein 221 isoform X1

  7. XM_054340927.1 → XP_054196902.1  cilia- and flagella-associated protein 221 isoform X1

  8. XM_054340929.1 → XP_054196904.1  cilia- and flagella-associated protein 221 isoform X3

  9. XM_054340931.1 → XP_054196906.1  cilia- and flagella-associated protein 221 isoform X5

RNA

  1. XR_008486300.1 RNA Sequence

  2. XR_008486301.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001029996.3: Suppressed sequence

    Description
    NM_001029996.3: This RefSeq was permanently suppressed because it would be a nonsense-mediated mRNA decay (NMD) candidate if the expected start codon was used.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q4G0U5.2 GenPept UniProtKB/Swiss-Prot:Q4G0U5

Gene LinkOut

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

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