Q5T655 · CFA58_HUMAN
- ProteinCilia- and flagella-associated protein 58
- GeneCFAP58
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids872 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
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).
Required for the elongation of the primary cilium and sperm flagellar midpiece via modulation of the Notch signaling pathway (By similarity).
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 | centrosome | |
Cellular Component | cytoplasm | |
Cellular Component | cytoskeleton | |
Cellular Component | extracellular space | |
Cellular Component | sperm flagellum | |
Cellular Component | sperm midpiece | |
Biological Process | cilium assembly | |
Biological Process | flagellated sperm motility | |
Biological Process | Notch signaling pathway | |
Biological Process | protein localization to motile cilium | |
Biological Process | sperm axoneme assembly | |
Biological Process | sperm flagellum assembly | |
Biological Process | sperm mitochondrial sheath assembly |
Keywords
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameCilia- and flagella-associated protein 58
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ5T655
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Note: Localized to the entire flagellum and predominantly concentrated in the midpiece. Co-localizes with ODFP2 at the centrosome (By similarity).
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Spermatogenic failure 49 (SPGF49)
- Note
- DescriptionAn 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 alsoMIM:619144
Natural variants in SPGF49
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_085546 | 108 | S>L | in SPGF49; uncertain significance | |
VAR_085209 | 566-872 | missing | in SPGF49 | |
VAR_085547 | 619 | R>W | in SPGF49; uncertain significance; dbSNP:rs377507907 | |
VAR_085548 | 628 | Y>C | in SPGF49; uncertain significance; dbSNP:rs1398039668 | |
VAR_085549 | 674 | A>S | in SPGF49; uncertain significance | |
VAR_085210 | 698-872 | missing | in SPGF49; results in loss of mutant protein; results in axonemal abnormalities | |
VAR_085211 | 758-872 | missing | in SPGF49; results in loss of mutant protein; results in axonemal abnormalities |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_085546 | 108 | in SPGF49; uncertain significance | |||
Sequence: S → L | ||||||
Natural variant | VAR_030255 | 496 | in dbSNP:rs11192036 | |||
Sequence: S → T | ||||||
Natural variant | VAR_085209 | 566-872 | in SPGF49 | |||
Sequence: Missing | ||||||
Natural variant | VAR_085547 | 619 | in SPGF49; uncertain significance; dbSNP:rs377507907 | |||
Sequence: R → W | ||||||
Natural variant | VAR_085548 | 628 | in SPGF49; uncertain significance; dbSNP:rs1398039668 | |||
Sequence: Y → C | ||||||
Natural variant | VAR_085549 | 674 | in SPGF49; uncertain significance | |||
Sequence: A → S | ||||||
Natural variant | VAR_085210 | 698-872 | in SPGF49; results in loss of mutant protein; results in axonemal abnormalities | |||
Sequence: Missing | ||||||
Natural variant | VAR_085211 | 758-872 | in SPGF49; results in loss of mutant protein; results in axonemal abnormalities | |||
Sequence: Missing | ||||||
Natural variant | VAR_030256 | 804 | in dbSNP:rs7087328 | |||
Sequence: Q → H |
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.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000274317 | 1-872 | UniProt | Cilia- and flagella-associated protein 58 | |||
Sequence: MAEEKGGKQVLEESAFEEMERDFQGVLHELSGDKSLEKFRIEYERLHAVMKKSYDNEKRLMAKCRELNAEIVVNSAKVATALKLSQDDQTTIASLKKEIEKAWKMVDSAYDKEQKAKETILALKEEIVNLTKLVEQGSGLSMDQHSNIRDLLRFKEEVTKERDQLLSEVVKLRESLAQTTEQQQETERSKEEAEHAISQFQQEIQQRQNEASREFRKKEKLEKELKQIQADMDSRQTEIKALQQYVQKSKEELQKLEQQLKEQKILNERAAKELEQFQMRNAKLQQENEQHSLVCEQLSQENQQKALELKAKEEEVHQMRLDIGKLNKIREQIHKKLHHTEDQKAEVEQHKETLKNQIVGLEREVEASKKQAELDRKAMDELLRERDILNKNMLKAVNATQKQTDLVKLHEQAKRNLEGEIQNYKDEAQKQRKIIFHLEKERDRYINQASDLTQKVLMNMEDIKVRETQIFDYRKKIAESEIKLKQQQNLYEAVRSDRNLYSKNLVEAQDEITDMKRKLKIMIHQVDELKEDISAKESALVKLHLEQQRIEKEKETLKAELQKLRQQALETKHFIEKQEAEERKLLRIIAEADGERLRQKKELDQVISERDILGSQLVRRNDELALLYEKIKIQQSVLNKGESQYNQRLEDMRILRLEIKKLRREKGILARSMANVEELRQEFFHMQRELLKERTRCRALEEELENPLNVHRWRKLEASDPNAYELIQKIHTLQKRLISKTEEVVEKELLLQEKEKLYMELKHVLARQPGPEAAEQLKLYRRTLHDKKQQLKVLSSELNMYEVQSKEYKYEVEKLTNELQNLKKKYLAQKRKEQLQKNKDTAPMDNTFLMVKPNGPGFTGGGFPLRSTKMTF | |||||||
Modified residue (large scale data) | 146 | PRIDE | Phosphoserine | ||||
Sequence: S |
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Interacts with ODFP2.
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q5T655 | BACH2 Q9BYV9 | 3 | EBI-10245749, EBI-1642333 | |
BINARY | Q5T655 | KRT27 Q7Z3Y8 | 3 | EBI-10245749, EBI-3044087 | |
BINARY | Q5T655 | MCC P23508 | 3 | EBI-10245749, EBI-307531 | |
BINARY | Q5T655 | NAV2 Q8IVL1 | 3 | EBI-10245749, EBI-741200 | |
BINARY | Q5T655 | RIPPLY1 Q0D2K3 | 3 | EBI-10245749, EBI-10226430 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for coiled coil.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Coiled coil | 106-595 | |||||
Sequence: VDSAYDKEQKAKETILALKEEIVNLTKLVEQGSGLSMDQHSNIRDLLRFKEEVTKERDQLLSEVVKLRESLAQTTEQQQETERSKEEAEHAISQFQQEIQQRQNEASREFRKKEKLEKELKQIQADMDSRQTEIKALQQYVQKSKEELQKLEQQLKEQKILNERAAKELEQFQMRNAKLQQENEQHSLVCEQLSQENQQKALELKAKEEEVHQMRLDIGKLNKIREQIHKKLHHTEDQKAEVEQHKETLKNQIVGLEREVEASKKQAELDRKAMDELLRERDILNKNMLKAVNATQKQTDLVKLHEQAKRNLEGEIQNYKDEAQKQRKIIFHLEKERDRYINQASDLTQKVLMNMEDIKVRETQIFDYRKKIAESEIKLKQQQNLYEAVRSDRNLYSKNLVEAQDEITDMKRKLKIMIHQVDELKEDISAKESALVKLHLEQQRIEKEKETLKAELQKLRQQALETKHFIEKQEAEERKLLRIIAEADGE | ||||||
Coiled coil | 642-839 | |||||
Sequence: ESQYNQRLEDMRILRLEIKKLRREKGILARSMANVEELRQEFFHMQRELLKERTRCRALEEELENPLNVHRWRKLEASDPNAYELIQKIHTLQKRLISKTEEVVEKELLLQEKEKLYMELKHVLARQPGPEAAEQLKLYRRTLHDKKQQLKVLSSELNMYEVQSKEYKYEVEKLTNELQNLKKKYLAQKRKEQLQKNK |
Sequence similarities
Belongs to the CFAP58 family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length872
- Mass (Da)103,417
- Last updated2004-12-21 v1
- ChecksumE4393742E91D81DD
Computationally mapped potential isoform sequences
There is 1 potential isoform mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
Q9H4Y4 | Q9H4Y4_HUMAN | CFAP58 | 92 |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
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 |