Q5T655 · CFA58_HUMAN

  • Protein
    Cilia- and flagella-associated protein 58
  • Gene
    CFAP58
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

function

Has an essential role in the assembly and organization of the sperm flagellar axoneme (PubMed:32791035).
Required for the elongation of the primary cilium and sperm flagellar midpiece via modulation of the Notch signaling pathway (By similarity).

GO annotations

all annotationsall molecular functionvirus receptor activitydna bindingrna bindingcytoskeletal motor activitycatalytic activitygtpase activitystructural molecule activitytransporter activitycytoskeletal protein bindinglipid bindingcyclase activityantioxidant activityoxidoreductase activitytransferase activityhydrolase activitylyase activityisomerase activityligase activityprotein tag activitycargo receptor activityhistone bindingprotein folding chaperonetranslation regulator activitynutrient reservoir activityreceptor ligand activitymolecular transducer activitymolecular adaptor activitytoxin activitycell adhesion mediator activitymolecular function regulator activityvirus coreceptor activitycatalytic activity, acting on a proteincatalytic activity, acting on dnacatalytic activity, acting on rnamolecular carrier activitytranscription regulator activitygeneral transcription initiation factor activitymolecular sensor activitymolecular sequestering activityatp-dependent activityother molecular functionall biological processmitotic cell cyclecytokinesiscytoplasmic translationimmune system processmuscle system processcirculatory system processrenal system processrespiratory system processcarbohydrate metabolic processgeneration of precursor metabolites and energydna replicationdna repairdna recombinationchromatin organizationdna-templated transcriptionregulation of dna-templated transcriptiontrna metabolic processprotein foldingprotein glycosylationamino acid metabolic processmodified amino acid metabolic processlipid metabolic processvitamin metabolic processsulfur compound metabolic processintracellular protein transportnucleocytoplasmic transportautophagyinflammatory responsemitochondrion organizationcytoskeleton organizationmicrotubule-based movementperoxisome organizationlysosome organizationchromosome segregationcell adhesionestablishment or maintenance of cell polarityprogrammed cell deathphotosynthesismrna metabolic processsnrna metabolic processvesicle-mediated transportreproductive processdigestive system processsignalingcell differentiationprotein catabolic processextracellular matrix organizationregulatory ncrna-mediated gene silencingtelomere organizationcell junction organizationwound healingribosome biogenesiscilium organizationanatomical structure developmentcell motilitynervous system processendocrine processprotein maturationtransmembrane transportnucleobase-containing small molecule metabolic processhepaticobiliary system processmembrane organizationprotein-containing complex assemblycell wall organization or biogenesisnitrogen cycle metabolic processprotein localization to plasma membranedefense response to other organismdetoxificationmeiotic nuclear divisionmitotic nuclear divisionmitochondrial gene expressioncarbohydrate derivative metabolic processother biological processall cellular componentnuclear chromosomeextracellular regionextracellular spacecell wallnucleusnuclear envelopenucleoplasmchromosomenucleolusmitochondrionlysosomeendosomevacuoleperoxisomeendoplasmic reticulumgolgi apparatuslipid dropletmicrotubule organizing centercytosolribosomecytoskeletonplasma membraneciliumplastidthylakoidexternal encapsulating structureextracellular matrixcytoplasmic vesicleorganelleother cellular component
Cell color indicative of number of GO terms
AspectTerm
Cellular Componentcentrosome
Cellular Componentcytoplasm
Cellular Componentcytoskeleton
Cellular Componentextracellular space
Cellular Componentsperm flagellum
Cellular Componentsperm midpiece
Biological Processcilium assembly
Biological Processflagellated sperm motility
Biological ProcessNotch signaling pathway
Biological Processprotein localization to motile cilium
Biological Processsperm axoneme assembly
Biological Processsperm flagellum assembly
Biological Processsperm mitochondrial sheath assembly

Keywords

Enzyme and pathway databases

Names & Taxonomy

Protein names

  • Recommended name
    Cilia- and flagella-associated protein 58
  • Alternative names
    • Coiled-coil domain-containing protein 147

Gene names

    • Name
      CFAP58
    • Synonyms
      C10orf80
      , CCDC147

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    Q5T655
  • Secondary accessions
    • D3DRA6
    • Q8NA27

Proteomes

Organism-specific databases

Subcellular Location

Note: Localized to the entire flagellum and predominantly concentrated in the midpiece. Co-localizes with ODFP2 at the centrosome (By similarity).

Keywords

Disease & Variants

Involvement in disease

Spermatogenic failure 49 (SPGF49)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    An autosomal recessive infertility disorder characterized by asthenoteratozoospermia and multiple morphologic abnormalities of the sperm flagella, primarily coiled and short flagella, with markedly reduced or absent motility.
  • See also
    MIM:619144
Natural variants in SPGF49
Variant IDPosition(s)ChangeDescription
VAR_085546108S>Lin SPGF49; uncertain significance
VAR_085209566-872missingin SPGF49
VAR_085547619R>Win SPGF49; uncertain significance; dbSNP:rs377507907
VAR_085548628Y>Cin SPGF49; uncertain significance; dbSNP:rs1398039668
VAR_085549674A>Sin SPGF49; uncertain significance
VAR_085210698-872missingin SPGF49; results in loss of mutant protein; results in axonemal abnormalities
VAR_085211758-872missingin SPGF49; results in loss of mutant protein; results in axonemal abnormalities

Features

Showing features for natural variant.

TypeIDPosition(s)Description
Natural variantVAR_085546108in SPGF49; uncertain significance
Natural variantVAR_030255496in dbSNP:rs11192036
Natural variantVAR_085209566-872in SPGF49
Natural variantVAR_085547619in SPGF49; uncertain significance; dbSNP:rs377507907
Natural variantVAR_085548628in SPGF49; uncertain significance; dbSNP:rs1398039668
Natural variantVAR_085549674in SPGF49; uncertain significance
Natural variantVAR_085210698-872in SPGF49; results in loss of mutant protein; results in axonemal abnormalities
Natural variantVAR_085211758-872in SPGF49; results in loss of mutant protein; results in axonemal abnormalities
Natural variantVAR_030256804in dbSNP:rs7087328

Variants

We now provide the "Disease & Variants" viewer in its own tab.

The viewer provides 1,102 variants from UniProt as well as other sources including ClinVar and dbSNP.

Go to variant viewer

Keywords

Organism-specific databases

Miscellaneous

Genetic variation databases

PTM/Processing

Features

Showing features for chain, modified residue (large scale data).

TypeIDPosition(s)SourceDescription
ChainPRO_00002743171-872UniProtCilia- and flagella-associated protein 58
Modified residue (large scale data)146PRIDEPhosphoserine

Proteomic databases

PTM databases

Expression

Gene expression databases

Organism-specific databases

Interaction

Subunit

Interacts with ODFP2.

Binary interactions

Protein-protein interaction databases

Miscellaneous

Family & Domains

Features

Showing features for coiled coil.

TypeIDPosition(s)Description
Coiled coil106-595
Coiled coil642-839

Sequence similarities

Belongs to the CFAP58 family.

Keywords

Phylogenomic databases

Family and domain databases

Sequence

  • Sequence status
    Complete
  • Length
    872
  • Mass (Da)
    103,417
  • Last updated
    2004-12-21 v1
  • Checksum
    E4393742E91D81DD
MAEEKGGKQVLEESAFEEMERDFQGVLHELSGDKSLEKFRIEYERLHAVMKKSYDNEKRLMAKCRELNAEIVVNSAKVATALKLSQDDQTTIASLKKEIEKAWKMVDSAYDKEQKAKETILALKEEIVNLTKLVEQGSGLSMDQHSNIRDLLRFKEEVTKERDQLLSEVVKLRESLAQTTEQQQETERSKEEAEHAISQFQQEIQQRQNEASREFRKKEKLEKELKQIQADMDSRQTEIKALQQYVQKSKEELQKLEQQLKEQKILNERAAKELEQFQMRNAKLQQENEQHSLVCEQLSQENQQKALELKAKEEEVHQMRLDIGKLNKIREQIHKKLHHTEDQKAEVEQHKETLKNQIVGLEREVEASKKQAELDRKAMDELLRERDILNKNMLKAVNATQKQTDLVKLHEQAKRNLEGEIQNYKDEAQKQRKIIFHLEKERDRYINQASDLTQKVLMNMEDIKVRETQIFDYRKKIAESEIKLKQQQNLYEAVRSDRNLYSKNLVEAQDEITDMKRKLKIMIHQVDELKEDISAKESALVKLHLEQQRIEKEKETLKAELQKLRQQALETKHFIEKQEAEERKLLRIIAEADGERLRQKKELDQVISERDILGSQLVRRNDELALLYEKIKIQQSVLNKGESQYNQRLEDMRILRLEIKKLRREKGILARSMANVEELRQEFFHMQRELLKERTRCRALEEELENPLNVHRWRKLEASDPNAYELIQKIHTLQKRLISKTEEVVEKELLLQEKEKLYMELKHVLARQPGPEAAEQLKLYRRTLHDKKQQLKVLSSELNMYEVQSKEYKYEVEKLTNELQNLKKKYLAQKRKEQLQKNKDTAPMDNTFLMVKPNGPGFTGGGFPLRSTKMTF

Computationally mapped potential isoform sequences

There is 1 potential isoform mapped to this entry

View all
EntryEntry nameGene nameLength
Q9H4Y4Q9H4Y4_HUMANCFAP5892

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
AL162742
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
AL355378
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
CH471066
EMBL· GenBank· DDBJ
EAW49595.1
EMBL· GenBank· DDBJ
Genomic DNA
BC036225
EMBL· GenBank· DDBJ
AAH36225.1
EMBL· GenBank· DDBJ
mRNA
BC109126
EMBL· GenBank· DDBJ
AAI09127.1
EMBL· GenBank· DDBJ
mRNA
AK093227
EMBL· GenBank· DDBJ
BAC04102.1
EMBL· GenBank· DDBJ
mRNA

Genome annotation databases

Similar Proteins

Disclaimer

Any 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. Our staff consists of biologists and biochemists that are not trained to give medical advice.
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