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CFAP298 cilia and flagella associated protein 298 [ Homo sapiens (human) ]

Gene ID: 56683, updated on 5-Mar-2024

Summary

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Official Symbol
CFAP298provided by HGNC
Official Full Name
cilia and flagella associated protein 298provided by HGNC
Primary source
HGNC:HGNC:1301
See related
Ensembl:ENSG00000159079 MIM:615494; AllianceGenome:HGNC:1301
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
Kur; FBB18; CILD26; DNAAF16; C21orf48; C21orf59
Summary
This gene encodes a protein that plays a critical role in dynein arm assembly and motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Naturally occuring readthrough transcription occurs from this locus to the downstream t-complex 10 like (TCP10L) gene. [provided by RefSeq, Apr 2017]
Expression
Ubiquitous expression in testis (RPKM 33.6), kidney (RPKM 20.7) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
21q22.11
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (32599354..32612377, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (30965355..30978378, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (33971664..33984687, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene CFAP298-TCP10L readthrough Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:33941277-33941820 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:33941821-33942362 Neighboring gene RNA, 5S ribosomal pseudogene 490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:33956090-33956590 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:33957672-33957871 Neighboring gene t-complex 10 like Neighboring gene Sharpr-MPRA regulatory region 410 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18365 Neighboring gene olfactory receptor family 7 subfamily E member 23 pseudogene Neighboring gene synaptojanin 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:34033532-34033721 Neighboring gene uncharacterized LOC124905011

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Pkd2l1 is required for mechanoception in cerebrospinal fluid-contacting neurons and maintenance of spine curvature. Sternberg JR, et al. Nat Commun, 2018 Sep 18. PMID 30228263, Free PMC Article
  2. Identification of C21orf59 and ATG2A as novel determinants of renal function-related traits in Japanese by exome-wide association studies. Yamada Y, et al. Oncotarget, 2017 Jul 11. PMID 28410202, Free PMC Article
  3. ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms. Cho KJ, et al. PLoS Genet, 2018 Mar. PMID 29601588, Free PMC Article
  4. c21orf59/kurly Controls Both Cilia Motility and Polarization. Jaffe KM, et al. Cell Rep, 2016 Mar 1. PMID 26904945, Free PMC Article
  5. Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. Austin-Tse C, et al. Am J Hum Genet, 2013 Oct 3. PMID 24094744, Free PMC Article

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

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
Primary ciliary dyskinesia 26
MedGen: C3809684 OMIM: 615500 GeneReviews: Primary Ciliary Dyskinesia
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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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Readthrough CFAP298-TCP10L

Readthrough gene: CFAP298-TCP10L, Included gene: TCP10L

Homology

Clone Names

  • FLJ20467, FLJ37137, FLJ40247

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of cilium movement IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in regulation of cilium movement IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cilium IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol HDA PubMed 
located_in nucleus HDA PubMed 

General protein information

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Preferred Names
cilia- and flagella-associated protein 298
Names
UPF0769 protein C21orf59
dynein axonemal assembly factor 16
kurly homolog
prostate cancer upregulated protein 1
protein kurly homolog

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.

Genomic

  1. NG_033839.2 RefSeqGene

    Range
    5232..18255
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001350334.2 → NP_001337263.1  cilia- and flagella-associated protein 298 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AK000474, AK098577, AK223318, AP000275
    Conserved Domains (1) summary
    pfam11069
    Location:90 → 186
    DUF2870; Protein of unknown function (DUF2870)

  2. NM_001350335.2 → NP_001337264.1  cilia- and flagella-associated protein 298 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AK223318, AK225697, AP000275
    Consensus CDS
    CCDS86984.1
    UniProtKB/TrEMBL
    D3DSE6, Q96NJ2
    Related
    ENSP00000371989.4, ENST00000382549.8
    Conserved Domains (1) summary
    pfam11069
    Location:189 → 222
    DUF2870; Protein of unknown function (DUF2870)

  3. NM_001350336.2 → NP_001337265.1  cilia- and flagella-associated protein 298 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AP000275
    Consensus CDS
    CCDS86985.1
    UniProtKB/TrEMBL
    C9J818, Q96NJ2
    Related
    ENSP00000411467.1, ENST00000440966.5
    Conserved Domains (1) summary
    pfam11069
    Location:189 → 251
    DUF2870; Protein of unknown function (DUF2870)

  4. NM_001350337.2 → NP_001337266.1  cilia- and flagella-associated protein 298 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AP000275
    UniProtKB/TrEMBL
    Q96NJ2
    Conserved Domains (1) summary
    pfam11069
    Location:189 → 254
    DUF2870; Protein of unknown function (DUF2870)

  5. NM_021254.4 → NP_067077.1  cilia- and flagella-associated protein 298 isoform 1

    See identical proteins and their annotated locations for NP_067077.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK098577, AP000275
    Consensus CDS
    CCDS13617.1
    UniProtKB/Swiss-Prot
    P57076, Q53FH0
    UniProtKB/TrEMBL
    A0A669KAZ0
    Related
    ENSP00000290155.3, ENST00000290155.8
    Conserved Domains (1) summary
    pfam11069
    Location:189 → 283
    DUF2870; Protein of unknown function (DUF2870)

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_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    32599354..32612377 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    30965355..30978378 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_017835.1: Suppressed sequence

    Description
    NM_017835.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P57076.1 GenPept UniProtKB/Swiss-Prot:P57076

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