Q9C0B2 · CFA74_HUMAN

  • Protein
    Cilia- and flagella-associated protein 74
  • Gene
    CFAP74
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

function

As part of the central apparatus of the cilium axoneme may play a role in cilium movement. May play an important role in sperm architecture and function.

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 Componentaxoneme
Cellular Componentcytoplasm
Cellular Componentnucleus
Cellular Componentsperm flagellum
Biological Processaxoneme assembly

Enzyme and pathway databases

Names & Taxonomy

Protein names

  • Recommended name
    Cilia- and flagella-associated protein 74

Gene names

    • Name
      CFAP74
    • Synonyms
      C1orf222
      , KIAA1751

Organism names

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

Accessions

  • Primary accession
    Q9C0B2
  • Secondary accessions
    • A4VCI2
    • H7C4E1
    • Q5T2D9
    • Q5T2E0
    • Q69YW0
    • Q6ZSJ4

Proteomes

Organism-specific databases

Disease & Variants

Involvement in disease

Ciliary dyskinesia, primary, 49, without situs inversus (CILD49)

  • Note
    • The disease may be caused by variants affecting the gene represented in this entry
  • Description
    A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD49 is an autosomal recessive form without situs abnormalities. Affected males also show infertility due to defective flagellar morphology and function.
  • See also
    MIM:620197
Natural variants in CILD49
Variant IDPosition(s)ChangeDescription
VAR_088022218R>Win CILD49; uncertain significance; dbSNP:rs533425606
VAR_088023328G>Din CILD49; uncertain significance; dbSNP:rs570149409
VAR_0880241178D>Nin CILD49; uncertain significance; dbSNP:rs559543526
VAR_0880251444S>Tin CILD49; uncertain significance; dbSNP:rs755467514

Features

Showing features for natural variant.

TypeIDPosition(s)Description
Natural variantVAR_03987350in dbSNP:rs13303083
Natural variantVAR_088022218in CILD49; uncertain significance; dbSNP:rs533425606
Natural variantVAR_088023328in CILD49; uncertain significance; dbSNP:rs570149409
Natural variantVAR_039874363in dbSNP:rs16824588
Natural variantVAR_039875628in dbSNP:rs3820011
Natural variantVAR_0880241178in CILD49; uncertain significance; dbSNP:rs559543526
Natural variantVAR_0880251444in CILD49; uncertain significance; dbSNP:rs755467514

Variants

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

The viewer provides 1,975 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.

TypeIDPosition(s)Description
ChainPRO_00003246641-1584Cilia- and flagella-associated protein 74

Proteomic databases

PTM databases

Expression

Gene expression databases

Organism-specific databases

Interaction

Binary interactions

TypeEntry 1Entry 2Number of experimentsIntact
BINARY Q9C0B2C20orf96 Q9NUD72EBI-20749422, EBI-21372475

Protein-protein interaction databases

Miscellaneous

Structure

Family & Domains

Features

Showing features for coiled coil, region, compositional bias.

TypeIDPosition(s)Description
Coiled coil300-379
Region692-739Disordered
Compositional bias704-727Basic and acidic residues

Sequence similarities

Belongs to the CFAP74 family.

Keywords

Phylogenomic databases

Family and domain databases

Sequence & Isoforms

Align isoforms (3)
  • Sequence status
    Complete

This entry describes 3 isoforms produced by Alternative splicing.

Q9C0B2-1

This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

  • Length
    1,584
  • Mass (Da)
    178,589
  • Last updated
    2015-02-04 v3
  • Checksum
    0B11F64C8AFE2C28
MEDDGSLLPEDELLADALLLEDERDELEDPEFDIKCLLQEAEDDVDPGHSSSVKELDTDADKLKKKTAEDRTQAFHLRQNLSALDKMHEEQELFTEKMRGELRACRQRRDLIDKQQEAVAAEIATEEEAGNMAAVGRLQAVSRRLFAELENERDLQSRTEAVLKESENTMWHIEIQEGRLEAFRTADREEVEATGRRLQVRAAEQLCREQEALGKVERNRLLRIRKSLNTQKELGLRHQKLLEDARKNHKVAVRFLKASLGRIREQEKKEEMECHEYMRRRMDAVVALKGSISANRDTLRKFQAWDRAKAELAEQRVQAEKKAILAQGRDAFRHLVHQRRRQELEAQKRAFEEEQKLRKQEIISRILKEEAEEEKRKKQHPPTSARHRLTLRDKTWNYISDFCKKTTVPTNTYTLDYEAAAGPGPSRLLEVVSSELIQGDPGASSEEETLAEPEISGLWNEDYKPYQVPKEDVDRKPVGGTKMDKDILERTVERLRSRVVHKQVVWGREFQGRPFNSKPELLHFQDFDIGKVYKKKITLVNTTYTINYCKLVGVEEHLRDFIHVDFDPPGPLSAGMSCEVLVTFKPMINKDLEGNISFLAQTGEFSVPLKCSTKKCSLSLDKELIDFGSYVVGETTSRTITLTNVGGLGTTFKFLPASEPCEMDDSQSALKLSSLLTYEDKSLYDKAATSFSEQQLEGTESSQADMQSRKELEKLDKEQEEEQPAEPERLTTVIPPSEEQTEITLGEVTEGEIGPFSSIKVPIVFTPVVPGDVQARFKVTFKNPQCPTLHFRVVGVAIDVPVWVPKPSVDLKICMYDRLYQDSVLVHTRSKAALRLKFEVCKELRAHLELLPKTGYIQAQSSYSVQLKFLPRHSLPEDAGRYFDKETRVLEAPMTIWVADQNKPVGFTVHAIVTTSDLELSPSEVDFGYCTIYEAIRTEISLHNHSLLPQEFGFVRLPKFVDVQPNDGFGTILPLETLQFCVIFQPTKAEEHRFQLTCKSEINRCFKLSCRAVGVHPPLELSHYQIKFAATALYDTSVATVYVINSHLSMSSPTHSKPRIGSEDASPMGPTSFEFLLPPDSPITISPSVGTVWPGKRCLVQVAFRPVLPEKLIRQEALPLLNKEMETKSFRKNMAPQRKDLHGLSFSVLRAQNRDKLFKVSVPHVLEMRKRELRPSSDEYQAARATLLRAFQAKFDTFVVPCVVASGDIKDRKGSEPLSFSPHNTLYLELWCPTVAPSVVVTSHKGKTIFNFGDVAVGHRSIKKISIQNVSPEDLALDFSLLNPNGPFVLLNHSSLLRAGGTQVLVLSFSPHESILAQETLDIITKRGTLTLTLMGTGVASMITCSIEGSVLNMGYVIAGESVSSGFKLQNNSLLPIKFSMHLDSLSSTRGRGQQQLPQFLSSPSQRTEVVGTQNLNGQSVFSVAPVKGVMDPGKTQDFTVTFSPDHESLYFSDKLQVVLFEKKISHQILLKGAACQHMMFVEGGDPLDVPVESLTAIPVFDPRHREEAEELRPILVTLDYIQFDTDTPAPPATRELQVGCIRTTQPSPKKPDHPLMVSALLQLRGDVKETYKVIFVAQVLTGP

Q9C0B2-2

  • Name
    2
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical
    • 726-851: EPERLTTVIPPSEEQTEITLGEVTEGEIGPFSSIKVPIVFTPVVPGDVQARFKVTFKNPQCPTLHFRVVGVAIDVPVWVPKPSVDLKICMYDRLYQDSVLVHTRSKAALRLKFEVCKELRAHLELL → VLFLEWTKMYIHVDANRRLEGTSSIGPAGPARAEPHRAGKRLCGAPWRGRAAGGFCLALQLWLLLDAHQRGEVPRNGRALPSPCLLPCSPPPSGIACVSSLLLLIVFPHTHRDPETSVLLLSVFAW
    • 852-1584: Missing

Q9C0B2-3

  • Name
    3
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical

Computationally mapped potential isoform sequences

There are 2 potential isoforms mapped to this entry

View all
EntryEntry nameGene nameLength
Q5T2D8Q5T2D8_HUMANCFAP7492
A0A804HLA9A0A804HLA9_HUMANCFAP741639

Sequence caution

The sequence AAI14927.1 differs from that shown. Reason: Miscellaneous discrepancy Probable cloning artifact.
The sequence BAB21842.1 differs from that shown. Reason: Miscellaneous discrepancy Probable cloning artifact.
The sequence CAH10703.1 differs from that shown. Reason: Miscellaneous discrepancy Probable cloning artifact.

Features

Showing features for sequence conflict, alternative sequence, compositional bias.

TypeIDPosition(s)Description
Sequence conflict18in Ref. 1; BAC86954
Alternative sequenceVSP_032345168-1584in isoform 3
Sequence conflict207in Ref. 3; AAI39755
Sequence conflict335in Ref. 3; AAI39755
Compositional bias704-727Basic and acidic residues
Alternative sequenceVSP_057369726-851in isoform 2
Alternative sequenceVSP_057370852-1584in isoform 2

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
AK127388
EMBL· GenBank· DDBJ
BAC86954.1
EMBL· GenBank· DDBJ
mRNA
AL391845
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
AL109917
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
BC114926
EMBL· GenBank· DDBJ
AAI14927.1
EMBL· GenBank· DDBJ
mRNA Sequence problems.
BC139754
EMBL· GenBank· DDBJ
AAI39755.1
EMBL· GenBank· DDBJ
mRNA
AB051538
EMBL· GenBank· DDBJ
BAB21842.1
EMBL· GenBank· DDBJ
mRNA Sequence problems.
AL137547
EMBL· GenBank· DDBJ
CAH10703.1
EMBL· GenBank· DDBJ
mRNA Sequence problems.

Genome annotation databases

Similar Proteins

Disclaimer

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