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

Gene ID: 200373, updated on 5-Aug-2022

Summary

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
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Genomic context

See CFAP221 in Genome Data Viewer
Location:
2q14.2
Exon count:
31
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (119544449..119660323)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (119977951..120090174)
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 transmembrane protein 37 Neighboring gene secretin receptor Neighboring gene VISTA enhancer hs1941 Neighboring gene SCTR antisense RNA 1 Neighboring gene transmembrane protein 177 Neighboring gene ribosomal protein L17 pseudogene 15 Neighboring gene uncharacterized LOC101927764 Neighboring gene Sharpr-MPRA regulatory region 5959

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

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

General gene information

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
PubMed 
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
PubMed 
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

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_001271049.2NP_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
    B4E2T5
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_006712353.4XP_006712416.1  cilia- and flagella-associated protein 221 isoform X2

    See identical proteins and their annotated locations for XP_006712416.1

    UniProtKB/Swiss-Prot
    B4E2T5, Q4G0U5
  2. XM_017003551.2XP_016859040.1  cilia- and flagella-associated protein 221 isoform X1

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

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

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

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

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

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

  9. XM_017003559.2XP_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..120090174
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.