Q96MT7 · CFA44_HUMAN
- ProteinCilia- and flagella-associated protein 44
- GeneCFAP44
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1854 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Flagellar protein involved in sperm flagellum axoneme organization 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 | cytoplasm | |
Cellular Component | cytoskeleton | |
Cellular Component | motile cilium | |
Molecular Function | peptidase activity | |
Biological Process | microtubule cytoskeleton organization | |
Biological Process | sperm axoneme assembly |
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameCilia- and flagella-associated protein 44
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ96MT7
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Spermatogenic failure 20 (SPGF20)
- Note
- DescriptionAn infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. SPGF20 patients have spermatozoa with absent, short, coiled, bent, and/or irregular-caliber flagella, which impair sperm motility.
- See alsoMIM:617593
Natural variants in SPGF20
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_080886 | 463-1854 | missing | in SPGF20 | |
VAR_080887 | 1059-1854 | missing | in SPGF20 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_062105 | 53 | in dbSNP:rs59722850 | |||
Sequence: K → E | ||||||
Natural variant | VAR_053435 | 284 | in dbSNP:rs16845107 | |||
Sequence: K → N | ||||||
Natural variant | VAR_080886 | 463-1854 | in SPGF20 | |||
Sequence: Missing | ||||||
Natural variant | VAR_080887 | 1059-1854 | in SPGF20 | |||
Sequence: Missing |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 1,750 variants from UniProt as well as other sources including ClinVar and dbSNP.
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000305102 | 1-1854 | Cilia- and flagella-associated protein 44 | |||
Sequence: MKEPDDQDTDGEKSVTSKSDGKKSLRSSKSESRSPVQEDNTFLEDDTDETFTKGEGSYLEEDSDEERLEGSLSSFQYGDLQSTTVPQQTPAPAVEEAEEEVKKKISESFFYDYMELASMPFVTLDSNIPLDLLTLVHSFGYDCRKRANLQLLDDSIAIYIAGNQLIFLNLKTKEQIYLRSSSGEGIGVIGVHPHKTYFTVAEKGSFPDIIIYEYPSLRPYRVLRDGTEKGYAYVDFNYSGNLLASVGSNPDYTLTIWNWKEEQPILRTKAFSQEVFKVTFNPDKEEQLTTSGSGHIKFWEMAFTFTGLKLQGSLGRFGKTITTDIEGYMELPDGKVLSGSEWGNMLLWEGGLIKVELCRGTSKSCHNGPINQIMLYEGEVITVGSDGYVRIWDFETIDTADVIDETGLLEIEPINELQVDKNVNLFSMIKMNETGNNFWLAQDANGAIWKLDLSFSNITQDPECLFSFHSGAIEAVAVSPLTYLMATTALDCSVRIYDFASKTPLAQMKFKQGGTALVWVPRMVNFTGAQIIVGFEDGVVRILELYDPKGLTIFAGRKKILDADIQLKQVFKPHTACVTALAYERDGEILATGSKDQTVFFFEVERDYKPIGYINTPGPVCQLMWSPMSHPESTLLIICENGYILEAPLPTIKQEEDDHDVVSYEIKDMCIKCFHFSSVKSKILRLIEIEKRERQRELKEKIREERRNKLAAEMGEDGEKEFQEEEEEKEEEEEEEEPLPEIFIPSTPSPILCGFYSEPGKFWVSLGGYDSGFLYHCEFPPCDESSDFKEQKDEPIDVRYLADTEDNPIQTITFNINKVMMFCGMKNGAIRVYVLNQNDPSLTSLVDYWHFNMHDNNYGCIKSIANSFDDRFLVTAGADGNIFVFNIFSEFMLRKDMKAKVPSPRFGIETEPIPEDIEDPKAYSIENARRKREHDKLMKEVGEIKARKREQIKALRSEFCNLLEMNEKLPKHMQFKRTDFDVDSQIRAEMHRKTAFKIQQVEKELAWEKEKHELGLMKLKNRFRDPLESDTIVVHAILSDHKISSYRLVQPSKYSKFKRASQSERKPSKLDRFEKEGPGRKDSQRDAGGSVTIQEESIIEKGKKFRPKTLSEIIVENQIEKTRKLILKAERAQLKIQQRKKEWEELYKSKPGDDYEDPKDLQAIKEAQVYMGDFNLKTAPDYKIPEHMRINAAKKEEELGHLDSLVHGNKRHMNKCILSLRDLKVAVVEEIQCLVQELKNIQSTLHISKHIPIPKIPQIHPEEVPEKRFQYDEETLLNFKQQQMKSKDEKSPGVEQTGSGGPVGGFLKLSSRKDGDLTTRDSISRSSKASTFSLDIPKCLEFEKAEPTDVELEIMKRDEIKHVYMQQYLVNRIKELVVTFDAELRLLRHQKLKLDTQMKLSDLHHVTLFQEILLLKNFEKQENILQERVNSLDKEEQYMQWKINETLKEMEEKKNEITKLQEQEKALYAGFQAAIGENNKFANFLMKVLKKKIKRVKKKEVEGDADEDEESEESSEEESSLESDEDESESEDEVFDDSICPTNCDVALFELALHLREKRLDIEEALVEEKKIVDNLKKEYDTLSKKVKIVATNLNAAEEALEAYQREKQQRLNELLVVIPLKLHQIEYVVFGEIPSDLSGTLVFSNHALRRLQERIHELQEENSKQQKLNKEWRERRKQLIREKREMTKTIHKMEETVRQLMISKFGRVVNLEALQTLSVNTTLEELKIRKLRKELANAKEMKMWEEKIAQMRWELMMKTKEHTRKLYQMNDLCIEKKKLDSRLNTLQNQQGNAFQGPREADVVAREEVTELIQLQAERISALKEEIALLRRKGSLILPPIQSPREKEIQPADL | ||||||
Modified residue | 1083 | Phosphoserine | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Testis-specific.
Gene expression databases
Organism-specific databases
Interaction
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q96MT7 | GADD45G O95257 | 3 | EBI-12551219, EBI-448202 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for compositional bias, region, repeat, coiled coil.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 1-33 | Basic and acidic residues | ||||
Sequence: MKEPDDQDTDGEKSVTSKSDGKKSLRSSKSESR | ||||||
Region | 1-98 | Disordered | ||||
Sequence: MKEPDDQDTDGEKSVTSKSDGKKSLRSSKSESRSPVQEDNTFLEDDTDETFTKGEGSYLEEDSDEERLEGSLSSFQYGDLQSTTVPQQTPAPAVEEAE | ||||||
Compositional bias | 46-60 | Basic and acidic residues | ||||
Sequence: DTDETFTKGEGSYLE | ||||||
Compositional bias | 74-90 | Polar residues | ||||
Sequence: SFQYGDLQSTTVPQQTP | ||||||
Repeat | 226-267 | WD 1 | ||||
Sequence: GTEKGYAYVDFNYSGNLLASVGSNPDYTLTIWNWKEEQPILR | ||||||
Repeat | 270-309 | WD 2 | ||||
Sequence: AFSQEVFKVTFNPDKEEQLTTSGSGHIKFWEMAFTFTGLK | ||||||
Repeat | 315-358 | WD 3 | ||||
Sequence: GRFGKTITTDIEGYMELPDGKVLSGSEWGNMLLWEGGLIKVELC | ||||||
Repeat | 365-402 | WD 4 | ||||
Sequence: CHNGPINQIMLYEGEVITVGSDGYVRIWDFETIDTADV | ||||||
Repeat | 468-507 | WD 5 | ||||
Sequence: FHSGAIEAVAVSPLTYLMATTALDCSVRIYDFASKTPLAQ | ||||||
Repeat | 513-553 | WD 6 | ||||
Sequence: GGTALVWVPRMVNFTGAQIIVGFEDGVVRILELYDPKGLTI | ||||||
Repeat | 573-612 | WD 7 | ||||
Sequence: PHTACVTALAYERDGEILATGSKDQTVFFFEVERDYKPIG | ||||||
Region | 708-743 | Disordered | ||||
Sequence: NKLAAEMGEDGEKEFQEEEEEKEEEEEEEEPLPEIF | ||||||
Compositional bias | 718-740 | Acidic residues | ||||
Sequence: GEKEFQEEEEEKEEEEEEEEPLP | ||||||
Repeat | 804-843 | WD 8 | ||||
Sequence: TEDNPIQTITFNINKVMMFCGMKNGAIRVYVLNQNDPSLT | ||||||
Repeat | 856-895 | WD 9 | ||||
Sequence: NNYGCIKSIANSFDDRFLVTAGADGNIFVFNIFSEFMLRK | ||||||
Coiled coil | 931-958 | |||||
Sequence: KREHDKLMKEVGEIKARKREQIKALRSE | ||||||
Region | 1057-1093 | Disordered | ||||
Sequence: FKRASQSERKPSKLDRFEKEGPGRKDSQRDAGGSVTI | ||||||
Compositional bias | 1058-1083 | Basic and acidic residues | ||||
Sequence: KRASQSERKPSKLDRFEKEGPGRKDS | ||||||
Region | 1282-1322 | Disordered | ||||
Sequence: QQMKSKDEKSPGVEQTGSGGPVGGFLKLSSRKDGDLTTRDS | ||||||
Region | 1500-1538 | Disordered | ||||
Sequence: EVEGDADEDEESEESSEEESSLESDEDESESEDEVFDDS | ||||||
Compositional bias | 1505-1538 | Acidic residues | ||||
Sequence: ADEDEESEESSEEESSLESDEDESESEDEVFDDS |
Sequence similarities
Belongs to the CFAP44 family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
Q96MT7-2
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.
- Name2
- Length1,854
- Mass (Da)213,865
- Last updated2018-10-10 v2
- ChecksumB086EB5D6455C187
Q96MT7-1
- Name1
Computationally mapped potential isoform sequences
There are 7 potential isoforms mapped to this entry
Features
Showing features for compositional bias, alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 1-33 | Basic and acidic residues | ||||
Sequence: MKEPDDQDTDGEKSVTSKSDGKKSLRSSKSESR | ||||||
Compositional bias | 46-60 | Basic and acidic residues | ||||
Sequence: DTDETFTKGEGSYLE | ||||||
Compositional bias | 74-90 | Polar residues | ||||
Sequence: SFQYGDLQSTTVPQQTP | ||||||
Compositional bias | 718-740 | Acidic residues | ||||
Sequence: GEKEFQEEEEEKEEEEEEEEPLP | ||||||
Alternative sequence | VSP_059893 | 979-982 | in isoform 1 | |||
Sequence: DFDV → VSLI | ||||||
Alternative sequence | VSP_059894 | 983-1854 | in isoform 1 | |||
Sequence: Missing | ||||||
Compositional bias | 1058-1083 | Basic and acidic residues | ||||
Sequence: KRASQSERKPSKLDRFEKEGPGRKDS | ||||||
Compositional bias | 1505-1538 | Acidic residues | ||||
Sequence: ADEDEESEESSEEESSLESDEDESESEDEVFDDS |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AK056472 EMBL· GenBank· DDBJ | BAB71193.1 EMBL· GenBank· DDBJ | mRNA | ||
AC023894 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC026329 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC026348 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC112128 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471052 EMBL· GenBank· DDBJ | EAW79641.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC101582 EMBL· GenBank· DDBJ | AAI01583.1 EMBL· GenBank· DDBJ | mRNA | ||
BC113553 EMBL· GenBank· DDBJ | AAI13554.1 EMBL· GenBank· DDBJ | mRNA |