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

Gene ID: 56683, updated on 4-Oct-2020

Summary

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
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; 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

Genomic context

See CFAP298 in Genome Data Viewer
Location:
21q22.11
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (32599354..32612377, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (33973977..33985174, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene CFAP298-TCP10L readthrough Neighboring gene uncharacterized LOC105372782 Neighboring gene t-complex 10 like Neighboring gene olfactory receptor family 7 subfamily E member 23 pseudogene Neighboring gene synaptojanin 1 Neighboring gene PAXBP1 antisense RNA 1

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

General protein information

Preferred Names
cilia- and flagella-associated protein 298
Names
UPF0769 protein C21orf59
kurly homolog
prostate cancer upregulated protein 1
protein kurly homolog

NCBI Reference Sequences (RefSeq)

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_001350334.2NP_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:90186
    DUF2870; Protein of unknown function (DUF2870)
  2. NM_001350335.2NP_001337264.1  cilia- and flagella-associated protein 298 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AK223318, AK225697, AP000275
    Consensus CDS
    CCDS86984.1
    Related
    ENSP00000371989.4, ENST00000382549.8
    Conserved Domains (1) summary
    pfam11069
    Location:189222
    DUF2870; Protein of unknown function (DUF2870)
  3. NM_001350336.2NP_001337265.1  cilia- and flagella-associated protein 298 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AP000275
    Consensus CDS
    CCDS86985.1
    Related
    ENSP00000411467.1, ENST00000440966.5
    Conserved Domains (1) summary
    pfam11069
    Location:189253
    DUF2870; Protein of unknown function (DUF2870)
  4. NM_001350337.2NP_001337266.1  cilia- and flagella-associated protein 298 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AP000275
    Conserved Domains (1) summary
    pfam11069
    Location:189254
    DUF2870; Protein of unknown function (DUF2870)
  5. NM_021254.4NP_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
    Related
    ENSP00000290155.3, ENST00000290155.8
    Conserved Domains (1) summary
    pfam11069
    Location:189285
    DUF2870; Protein of unknown function (DUF2870)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    32599354..32612377 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.
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