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

    Gene ID: 56683, updated on 10-Dec-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
    mouse all
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    Genomic context

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    See CFAP298 in Genome Data Viewer
    Location:
    21q22.11
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (32599354..32612377, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (30965355..30978378, complement)
    RS_2024_09 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. 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
    2. 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
    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 (35) 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
    		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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    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_2024_08

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

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