Q96MT7 · CFA44_HUMAN

  • Protein
    Cilia- and flagella-associated protein 44
  • Gene
    CFAP44
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

function

Flagellar protein involved in sperm flagellum axoneme organization 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 Componentcytoplasm
Cellular Componentcytoskeleton
Cellular Componentmotile cilium
Molecular Functionpeptidase activity
Biological Processmicrotubule cytoskeleton organization
Biological Processsperm axoneme assembly

Enzyme and pathway databases

Names & Taxonomy

Protein names

  • Recommended name
    Cilia- and flagella-associated protein 44
  • Alternative names
    • WD repeat-containing protein 52

Gene names

    • Name
      CFAP44
    • Synonyms
      WDR52

Organism names

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

Accessions

  • Primary accession
    Q96MT7

Proteomes

Organism-specific databases

Disease & Variants

Involvement in disease

Spermatogenic failure 20 (SPGF20)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    An 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 also
    MIM:617593
Natural variants in SPGF20
Variant IDPosition(s)ChangeDescription
VAR_080886463-1854missingin SPGF20
VAR_0808871059-1854missingin SPGF20

Features

Showing features for natural variant.

TypeIDPosition(s)Description
Natural variantVAR_06210553in dbSNP:rs59722850
Natural variantVAR_053435284in dbSNP:rs16845107
Natural variantVAR_080886463-1854in SPGF20
Natural variantVAR_0808871059-1854in SPGF20

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.

Go to variant viewer

Organism-specific databases

Miscellaneous

Genetic variation databases

PTM/Processing

Features

Showing features for chain, modified residue.

TypeIDPosition(s)Description
ChainPRO_00003051021-1854Cilia- and flagella-associated protein 44
Modified residue1083Phosphoserine

Keywords

Proteomic databases

PTM databases

Expression

Tissue specificity

Testis-specific.

Gene expression databases

Organism-specific databases

Interaction

Binary interactions

TypeEntry 1Entry 2Number of experimentsIntact
BINARY Q96MT7GADD45G O952573EBI-12551219, EBI-448202

Protein-protein interaction databases

Miscellaneous

Family & Domains

Features

Showing features for compositional bias, region, repeat, coiled coil.

TypeIDPosition(s)Description
Compositional bias1-33Basic and acidic residues
Region1-98Disordered
Compositional bias46-60Basic and acidic residues
Compositional bias74-90Polar residues
Repeat226-267WD 1
Repeat270-309WD 2
Repeat315-358WD 3
Repeat365-402WD 4
Repeat468-507WD 5
Repeat513-553WD 6
Repeat573-612WD 7
Region708-743Disordered
Compositional bias718-740Acidic residues
Repeat804-843WD 8
Repeat856-895WD 9
Coiled coil931-958
Region1057-1093Disordered
Compositional bias1058-1083Basic and acidic residues
Region1282-1322Disordered
Region1500-1538Disordered
Compositional bias1505-1538Acidic residues

Sequence similarities

Belongs to the CFAP44 family.

Keywords

Phylogenomic databases

Family and domain databases

Sequence & Isoform

Align isoforms (2)
  • Sequence status
    Complete

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.

  • Length
    1,854
  • Mass (Da)
    213,865
  • Last updated
    2018-10-10 v2
  • Checksum
    B086EB5D6455C187
MKEPDDQDTDGEKSVTSKSDGKKSLRSSKSESRSPVQEDNTFLEDDTDETFTKGEGSYLEEDSDEERLEGSLSSFQYGDLQSTTVPQQTPAPAVEEAEEEVKKKISESFFYDYMELASMPFVTLDSNIPLDLLTLVHSFGYDCRKRANLQLLDDSIAIYIAGNQLIFLNLKTKEQIYLRSSSGEGIGVIGVHPHKTYFTVAEKGSFPDIIIYEYPSLRPYRVLRDGTEKGYAYVDFNYSGNLLASVGSNPDYTLTIWNWKEEQPILRTKAFSQEVFKVTFNPDKEEQLTTSGSGHIKFWEMAFTFTGLKLQGSLGRFGKTITTDIEGYMELPDGKVLSGSEWGNMLLWEGGLIKVELCRGTSKSCHNGPINQIMLYEGEVITVGSDGYVRIWDFETIDTADVIDETGLLEIEPINELQVDKNVNLFSMIKMNETGNNFWLAQDANGAIWKLDLSFSNITQDPECLFSFHSGAIEAVAVSPLTYLMATTALDCSVRIYDFASKTPLAQMKFKQGGTALVWVPRMVNFTGAQIIVGFEDGVVRILELYDPKGLTIFAGRKKILDADIQLKQVFKPHTACVTALAYERDGEILATGSKDQTVFFFEVERDYKPIGYINTPGPVCQLMWSPMSHPESTLLIICENGYILEAPLPTIKQEEDDHDVVSYEIKDMCIKCFHFSSVKSKILRLIEIEKRERQRELKEKIREERRNKLAAEMGEDGEKEFQEEEEEKEEEEEEEEPLPEIFIPSTPSPILCGFYSEPGKFWVSLGGYDSGFLYHCEFPPCDESSDFKEQKDEPIDVRYLADTEDNPIQTITFNINKVMMFCGMKNGAIRVYVLNQNDPSLTSLVDYWHFNMHDNNYGCIKSIANSFDDRFLVTAGADGNIFVFNIFSEFMLRKDMKAKVPSPRFGIETEPIPEDIEDPKAYSIENARRKREHDKLMKEVGEIKARKREQIKALRSEFCNLLEMNEKLPKHMQFKRTDFDVDSQIRAEMHRKTAFKIQQVEKELAWEKEKHELGLMKLKNRFRDPLESDTIVVHAILSDHKISSYRLVQPSKYSKFKRASQSERKPSKLDRFEKEGPGRKDSQRDAGGSVTIQEESIIEKGKKFRPKTLSEIIVENQIEKTRKLILKAERAQLKIQQRKKEWEELYKSKPGDDYEDPKDLQAIKEAQVYMGDFNLKTAPDYKIPEHMRINAAKKEEELGHLDSLVHGNKRHMNKCILSLRDLKVAVVEEIQCLVQELKNIQSTLHISKHIPIPKIPQIHPEEVPEKRFQYDEETLLNFKQQQMKSKDEKSPGVEQTGSGGPVGGFLKLSSRKDGDLTTRDSISRSSKASTFSLDIPKCLEFEKAEPTDVELEIMKRDEIKHVYMQQYLVNRIKELVVTFDAELRLLRHQKLKLDTQMKLSDLHHVTLFQEILLLKNFEKQENILQERVNSLDKEEQYMQWKINETLKEMEEKKNEITKLQEQEKALYAGFQAAIGENNKFANFLMKVLKKKIKRVKKKEVEGDADEDEESEESSEEESSLESDEDESESEDEVFDDSICPTNCDVALFELALHLREKRLDIEEALVEEKKIVDNLKKEYDTLSKKVKIVATNLNAAEEALEAYQREKQQRLNELLVVIPLKLHQIEYVVFGEIPSDLSGTLVFSNHALRRLQERIHELQEENSKQQKLNKEWRERRKQLIREKREMTKTIHKMEETVRQLMISKFGRVVNLEALQTLSVNTTLEELKIRKLRKELANAKEMKMWEEKIAQMRWELMMKTKEHTRKLYQMNDLCIEKKKLDSRLNTLQNQQGNAFQGPREADVVAREEVTELIQLQAERISALKEEIALLRRKGSLILPPIQSPREKEIQPADL

Q96MT7-1

Computationally mapped potential isoform sequences

There are 7 potential isoforms mapped to this entry

View all
EntryEntry nameGene nameLength
F8WEX0F8WEX0_HUMANCFAP4437
C9K0A4C9K0A4_HUMANCFAP4484
H0Y883H0Y883_HUMANCFAP4456
H0Y896H0Y896_HUMANCFAP44419
H7C591H7C591_HUMANCFAP44119
H7C512H7C512_HUMANCFAP4426
A0A1D5RMR1A0A1D5RMR1_HUMANCFAP4410

Features

Showing features for compositional bias, alternative sequence.

TypeIDPosition(s)Description
Compositional bias1-33Basic and acidic residues
Compositional bias46-60Basic and acidic residues
Compositional bias74-90Polar residues
Compositional bias718-740Acidic residues
Alternative sequenceVSP_059893979-982in isoform 1
Alternative sequenceVSP_059894983-1854in isoform 1
Compositional bias1058-1083Basic and acidic residues
Compositional bias1505-1538Acidic residues

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
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

Genome annotation databases

Similar Proteins

Disclaimer

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