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Protein

Cilia- and flagella-associated protein 298

Gene

CFAP298

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Plays a role in motile cilium function, possibly by acting on outer dynein arm assembly (PubMed:24094744). Seems to be important for initiation rather than maintenance of cilium motility (By similarity). Required for correct positioning of the cilium at the apical cell surface, suggesting an additional role in the planar cell polarity (PCP) pathway (By similarity). May suppress canonical Wnt signaling activity (By similarity).By similarity1 Publication

GO - Biological processi

  • cell projection morphogenesis Source: GO_Central
  • cilium assembly Source: UniProtKB
  • regulation of cilium movement Source: UniProtKB

Names & Taxonomyi

Protein namesi
Recommended name:
Cilia- and flagella-associated protein 298Curated
Alternative name(s):
Protein kurly homologCurated
Gene namesi
Name:CFAP298Imported
Synonyms:C21orf48, C21orf59
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

EuPathDBiHostDB:ENSG00000159079.18
HGNCiHGNC:1301 CFAP298
MIMi615494 gene
neXtProtiNX_P57076

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 26 (CILD26)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. Cilia in nasal epithelia show the absence of both outer and inner dynein-arm components and complete paralysis.
Disease descriptionA disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
See also OMIM:615500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070201141D → G in CILD26; unknown pathological significance; hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs140727644EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

DisGeNETi56683
MalaCardsiC21orf59
MIMi615500 phenotype
OpenTargetsiENSG00000159079
Orphaneti244 Primary ciliary dyskinesia
PharmGKBiPA25854

Polymorphism and mutation databases

BioMutaiC21orf59
DMDMi10719917

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000795231 – 290Cilia- and flagella-associated protein 298Add BLAST290

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei264PhosphotyrosineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP57076
MaxQBiP57076
PaxDbiP57076
PeptideAtlasiP57076
PRIDEiP57076
ProteomicsDBi56984

PTM databases

iPTMnetiP57076
PhosphoSitePlusiP57076

Expressioni

Gene expression databases

BgeeiENSG00000159079
CleanExiHS_C21orf59
ExpressionAtlasiP57076 baseline and differential
GenevisibleiP57076 HS

Organism-specific databases

HPAiCAB034170
HPA018453
HPA019055
HPA028849

Interactioni

Subunit structurei

Interacts with ZMYND10.1 Publication

Protein-protein interaction databases

BioGridi121187, 45 interactors
IntActiP57076, 7 interactors
MINTiP57076
STRINGi9606.ENSP00000290155

Structurei

3D structure databases

ProteinModelPortaliP57076
SMRiP57076
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the CFAP298 family.Curated

Phylogenomic databases

eggNOGiENOG410IGM9 Eukaryota
ENOG410XT5S LUCA
GeneTreeiENSGT00390000006278
HOGENOMiHOG000282965
HOVERGENiHBG051236
InParanoidiP57076
OMAiSCLNSPW
OrthoDBiEOG091G0F5M
PhylomeDBiP57076
TreeFamiTF323482

Family and domain databases

InterProiView protein in InterPro
IPR021298 DUF2870
PANTHERiPTHR13238 PTHR13238, 1 hit
PfamiView protein in Pfam
PF11069 DUF2870, 1 hit

Sequencei

Sequence statusi: Complete.

P57076-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MVLLHVKRGD ESQFLLQAPG STELEELTVQ VARVYNGRLK VQRLCSEMEE
60 70 80 90 100
LAEHGIFLPP NMQGLTDDQI EELKLKDEWG EKCVPSGGAV FKKDDIGRRN
110 120 130 140 150
GQAPNEKMKQ VLKKTIEEAK AIISKKQVEA GVCVTMEMVK DALDQLRGAV
160 170 180 190 200
MIVYPMGLPP YDPIRMEFEN KEDLSGTQAG LNVIKEAEAQ LWWAAKELRR
210 220 230 240 250
TKKLSDYVGK NEKTKIIAKI QQRGQGAPAR EPIISSEEQK QLMLYYHRRQ
260 270 280 290
EELKRLEEND DDAYLNSPWA DNTALKRHFH GVKDIKWRPR
Length:290
Mass (Da):33,224
Last modified:December 1, 2000 - v1
Checksum:i4C56A8C989B108DD
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti176G → E in BAD97038 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07020033R → W1 PublicationCorresponds to variant dbSNP:rs753786167EnsemblClinVar.1
Natural variantiVAR_070201141D → G in CILD26; unknown pathological significance; hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs140727644EnsemblClinVar.1
Natural variantiVAR_070202173D → Y1 PublicationCorresponds to variant dbSNP:rs540473945Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF282851 mRNA Translation: AAG00496.1
AK223318 mRNA Translation: BAD97038.1
AP000275 Genomic DNA No translation available.
BC000709 mRNA Translation: AAH00709.1
CCDSiCCDS13617.1
RefSeqiNP_067077.1, NM_021254.2
UniGeneiHs.5811

Genome annotation databases

EnsembliENST00000290155; ENSP00000290155; ENSG00000159079
GeneIDi56683
KEGGihsa:56683
UCSCiuc002yqc.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCF298_HUMAN
AccessioniPrimary (citable) accession number: P57076
Secondary accession number(s): Q53FH0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: December 1, 2000
Last modified: July 18, 2018
This is version 125 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
  6. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries

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