Q9C0B2 · CFA74_HUMAN
- ProteinCilia- and flagella-associated protein 74
- GeneCFAP74
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1584 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
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 annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | axoneme | |
Cellular Component | cytoplasm | |
Cellular Component | nucleus | |
Cellular Component | sperm flagellum | |
Biological Process | axoneme assembly |
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameCilia- and flagella-associated protein 74
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9C0B2
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Ciliary dyskinesia, primary, 49, without situs inversus (CILD49)
- Note
- DescriptionA 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 alsoMIM:620197
Natural variants in CILD49
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_088022 | 218 | R>W | in CILD49; uncertain significance; dbSNP:rs533425606 | |
VAR_088023 | 328 | G>D | in CILD49; uncertain significance; dbSNP:rs570149409 | |
VAR_088024 | 1178 | D>N | in CILD49; uncertain significance; dbSNP:rs559543526 | |
VAR_088025 | 1444 | S>T | in CILD49; uncertain significance; dbSNP:rs755467514 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_039873 | 50 | in dbSNP:rs13303083 | |||
Sequence: S → I | ||||||
Natural variant | VAR_088022 | 218 | in CILD49; uncertain significance; dbSNP:rs533425606 | |||
Sequence: R → W | ||||||
Natural variant | VAR_088023 | 328 | in CILD49; uncertain significance; dbSNP:rs570149409 | |||
Sequence: G → D | ||||||
Natural variant | VAR_039874 | 363 | in dbSNP:rs16824588 | |||
Sequence: I → V | ||||||
Natural variant | VAR_039875 | 628 | in dbSNP:rs3820011 | |||
Sequence: G → C | ||||||
Natural variant | VAR_088024 | 1178 | in CILD49; uncertain significance; dbSNP:rs559543526 | |||
Sequence: D → N | ||||||
Natural variant | VAR_088025 | 1444 | in CILD49; uncertain significance; dbSNP:rs755467514 | |||
Sequence: S → T |
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.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000324664 | 1-1584 | Cilia- and flagella-associated protein 74 | |||
Sequence: MEDDGSLLPEDELLADALLLEDERDELEDPEFDIKCLLQEAEDDVDPGHSSSVKELDTDADKLKKKTAEDRTQAFHLRQNLSALDKMHEEQELFTEKMRGELRACRQRRDLIDKQQEAVAAEIATEEEAGNMAAVGRLQAVSRRLFAELENERDLQSRTEAVLKESENTMWHIEIQEGRLEAFRTADREEVEATGRRLQVRAAEQLCREQEALGKVERNRLLRIRKSLNTQKELGLRHQKLLEDARKNHKVAVRFLKASLGRIREQEKKEEMECHEYMRRRMDAVVALKGSISANRDTLRKFQAWDRAKAELAEQRVQAEKKAILAQGRDAFRHLVHQRRRQELEAQKRAFEEEQKLRKQEIISRILKEEAEEEKRKKQHPPTSARHRLTLRDKTWNYISDFCKKTTVPTNTYTLDYEAAAGPGPSRLLEVVSSELIQGDPGASSEEETLAEPEISGLWNEDYKPYQVPKEDVDRKPVGGTKMDKDILERTVERLRSRVVHKQVVWGREFQGRPFNSKPELLHFQDFDIGKVYKKKITLVNTTYTINYCKLVGVEEHLRDFIHVDFDPPGPLSAGMSCEVLVTFKPMINKDLEGNISFLAQTGEFSVPLKCSTKKCSLSLDKELIDFGSYVVGETTSRTITLTNVGGLGTTFKFLPASEPCEMDDSQSALKLSSLLTYEDKSLYDKAATSFSEQQLEGTESSQADMQSRKELEKLDKEQEEEQPAEPERLTTVIPPSEEQTEITLGEVTEGEIGPFSSIKVPIVFTPVVPGDVQARFKVTFKNPQCPTLHFRVVGVAIDVPVWVPKPSVDLKICMYDRLYQDSVLVHTRSKAALRLKFEVCKELRAHLELLPKTGYIQAQSSYSVQLKFLPRHSLPEDAGRYFDKETRVLEAPMTIWVADQNKPVGFTVHAIVTTSDLELSPSEVDFGYCTIYEAIRTEISLHNHSLLPQEFGFVRLPKFVDVQPNDGFGTILPLETLQFCVIFQPTKAEEHRFQLTCKSEINRCFKLSCRAVGVHPPLELSHYQIKFAATALYDTSVATVYVINSHLSMSSPTHSKPRIGSEDASPMGPTSFEFLLPPDSPITISPSVGTVWPGKRCLVQVAFRPVLPEKLIRQEALPLLNKEMETKSFRKNMAPQRKDLHGLSFSVLRAQNRDKLFKVSVPHVLEMRKRELRPSSDEYQAARATLLRAFQAKFDTFVVPCVVASGDIKDRKGSEPLSFSPHNTLYLELWCPTVAPSVVVTSHKGKTIFNFGDVAVGHRSIKKISIQNVSPEDLALDFSLLNPNGPFVLLNHSSLLRAGGTQVLVLSFSPHESILAQETLDIITKRGTLTLTLMGTGVASMITCSIEGSVLNMGYVIAGESVSSGFKLQNNSLLPIKFSMHLDSLSSTRGRGQQQLPQFLSSPSQRTEVVGTQNLNGQSVFSVAPVKGVMDPGKTQDFTVTFSPDHESLYFSDKLQVVLFEKKISHQILLKGAACQHMMFVEGGDPLDVPVESLTAIPVFDPRHREEAEELRPILVTLDYIQFDTDTPAPPATRELQVGCIRTTQPSPKKPDHPLMVSALLQLRGDVKETYKVIFVAQVLTGP |
Proteomic databases
PTM databases
Expression
Interaction
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q9C0B2 | C20orf96 Q9NUD7 | 2 | EBI-20749422, EBI-21372475 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for coiled coil, region, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Coiled coil | 300-379 | |||||
Sequence: RKFQAWDRAKAELAEQRVQAEKKAILAQGRDAFRHLVHQRRRQELEAQKRAFEEEQKLRKQEIISRILKEEAEEEKRKKQ | ||||||
Region | 692-739 | Disordered | ||||
Sequence: SEQQLEGTESSQADMQSRKELEKLDKEQEEEQPAEPERLTTVIPPSEE | ||||||
Compositional bias | 704-727 | Basic and acidic residues | ||||
Sequence: ADMQSRKELEKLDKEQEEEQPAEP |
Sequence similarities
Belongs to the CFAP74 family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
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.
- Name1
- Length1,584
- Mass (Da)178,589
- Last updated2015-02-04 v3
- Checksum0B11F64C8AFE2C28
Q9C0B2-2
- Name2
- Differences from canonical
Q9C0B2-3
- Name3
- Differences from canonical
- 168-1584: Missing
Computationally mapped potential isoform sequences
There are 2 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
Q5T2D8 | Q5T2D8_HUMAN | CFAP74 | 92 | ||
A0A804HLA9 | A0A804HLA9_HUMAN | CFAP74 | 1639 |
Sequence caution
Features
Showing features for sequence conflict, alternative sequence, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 18 | in Ref. 1; BAC86954 | ||||
Sequence: L → F | ||||||
Alternative sequence | VSP_032345 | 168-1584 | in isoform 3 | |||
Sequence: Missing | ||||||
Sequence conflict | 207 | in Ref. 3; AAI39755 | ||||
Sequence: C → R | ||||||
Sequence conflict | 335 | in Ref. 3; AAI39755 | ||||
Sequence: L → F | ||||||
Compositional bias | 704-727 | Basic and acidic residues | ||||
Sequence: ADMQSRKELEKLDKEQEEEQPAEP | ||||||
Alternative sequence | VSP_057369 | 726-851 | in isoform 2 | |||
Sequence: EPERLTTVIPPSEEQTEITLGEVTEGEIGPFSSIKVPIVFTPVVPGDVQARFKVTFKNPQCPTLHFRVVGVAIDVPVWVPKPSVDLKICMYDRLYQDSVLVHTRSKAALRLKFEVCKELRAHLELL → VLFLEWTKMYIHVDANRRLEGTSSIGPAGPARAEPHRAGKRLCGAPWRGRAAGGFCLALQLWLLLDAHQRGEVPRNGRALPSPCLLPCSPPPSGIACVSSLLLLIVFPHTHRDPETSVLLLSVFAW | ||||||
Alternative sequence | VSP_057370 | 852-1584 | in isoform 2 | |||
Sequence: Missing |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
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. |