Cilia- and flagella-associated protein 45

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functionⁱ

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• AMP binding Source: MGI

GO - Biological processⁱ

• cerebrospinal fluid circulation Source: MGI <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • Ref.4

    "CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module."
    Dougherty G.W., Mizuno K., Noethe-Menchen T., Ikawa Y., Boldt K., Ta-Shma A., Aprea I., Minegishi K., Pang Y.P., Pennekamp P., Loges N.T., Raidt J., Hjeij R., Wallmeier J., Mussaffi H., Perles Z., Elpeleg O., Rabert F.

    , Shiratori H., Letteboer S.J., Horn N., Young S., Struenker T., Stumme F., Werner C., Olbrich H., Takaoka K., Ide T., Twan W.K., Biebach L., Grosse-Onnebrink J., Klinkenbusch J.A., Praveen K., Bracht D.C., Hoeben I.M., Junger K., Guetzlaff J., Cindric S., Aviram M., Kaiser T., Memari Y., Dzeja P.P., Dworniczak B., Ueffing M., Roepman R., Bartscherer K., Katsanis N., Davis E.E., Amirav I., Hamada H., Omran H.
    Nat. Commun. 11:5520-5520(2020) [PubMed] [Europe PMC] [Abstract]

    Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DISRUPTION PHENOTYPE.
• epithelial cilium movement involved in determination of left/right asymmetry Source: MGIInferred from mutant phenotypeⁱ
  • Ref.4

    "CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module."
    Dougherty G.W., Mizuno K., Noethe-Menchen T., Ikawa Y., Boldt K., Ta-Shma A., Aprea I., Minegishi K., Pang Y.P., Pennekamp P., Loges N.T., Raidt J., Hjeij R., Wallmeier J., Mussaffi H., Perles Z., Elpeleg O., Rabert F.

    , Shiratori H., Letteboer S.J., Horn N., Young S., Struenker T., Stumme F., Werner C., Olbrich H., Takaoka K., Ide T., Twan W.K., Biebach L., Grosse-Onnebrink J., Klinkenbusch J.A., Praveen K., Bracht D.C., Hoeben I.M., Junger K., Guetzlaff J., Cindric S., Aviram M., Kaiser T., Memari Y., Dzeja P.P., Dworniczak B., Ueffing M., Roepman R., Bartscherer K., Katsanis N., Davis E.E., Amirav I., Hamada H., Omran H.
    Nat. Commun. 11:5520-5520(2020) [PubMed] [Europe PMC] [Abstract]

    Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DISRUPTION PHENOTYPE.
• establishment of left/right asymmetry Source: MGI
• flagellated sperm motility Source: MGIInferred from mutant phenotypeⁱ
  • Ref.4

    "CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module."
    Dougherty G.W., Mizuno K., Noethe-Menchen T., Ikawa Y., Boldt K., Ta-Shma A., Aprea I., Minegishi K., Pang Y.P., Pennekamp P., Loges N.T., Raidt J., Hjeij R., Wallmeier J., Mussaffi H., Perles Z., Elpeleg O., Rabert F.

    , Shiratori H., Letteboer S.J., Horn N., Young S., Struenker T., Stumme F., Werner C., Olbrich H., Takaoka K., Ide T., Twan W.K., Biebach L., Grosse-Onnebrink J., Klinkenbusch J.A., Praveen K., Bracht D.C., Hoeben I.M., Junger K., Guetzlaff J., Cindric S., Aviram M., Kaiser T., Memari Y., Dzeja P.P., Dworniczak B., Ueffing M., Roepman R., Bartscherer K., Katsanis N., Davis E.E., Amirav I., Hamada H., Omran H.
    Nat. Commun. 11:5520-5520(2020) [PubMed] [Europe PMC] [Abstract]

    Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DISRUPTION PHENOTYPE.
• regulation of cilium beat frequency involved in ciliary motility Source: MGIInferred from mutant phenotypeⁱ
  • Ref.4

    "CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module."
    Dougherty G.W., Mizuno K., Noethe-Menchen T., Ikawa Y., Boldt K., Ta-Shma A., Aprea I., Minegishi K., Pang Y.P., Pennekamp P., Loges N.T., Raidt J., Hjeij R., Wallmeier J., Mussaffi H., Perles Z., Elpeleg O., Rabert F.

    , Shiratori H., Letteboer S.J., Horn N., Young S., Struenker T., Stumme F., Werner C., Olbrich H., Takaoka K., Ide T., Twan W.K., Biebach L., Grosse-Onnebrink J., Klinkenbusch J.A., Praveen K., Bracht D.C., Hoeben I.M., Junger K., Guetzlaff J., Cindric S., Aviram M., Kaiser T., Memari Y., Dzeja P.P., Dworniczak B., Ueffing M., Roepman R., Bartscherer K., Katsanis N., Davis E.E., Amirav I., Hamada H., Omran H.
    Nat. Commun. 11:5520-5520(2020) [PubMed] [Europe PMC] [Abstract]

    Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DISRUPTION PHENOTYPE.

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

• UniProt annotation
• GO - Cellular component

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componentⁱ

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechⁱ

<p>This subsection of the 'Pathology and Biotech' section describes the in vivo effects caused by ablation of the gene (or one or more transcripts) coding for the protein described in the entry. This includes gene knockout and knockdown, provided experiments have been performed in the context of a whole organism or a specific tissue, and not at the single-cell level.<p><a href='/help/disruption_phenotype' target='_top'>More...</a></p>Disruption phenotypeⁱ

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Molecule processing

Proteomic databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressionⁱ

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityⁱ

Gene expression databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactionⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structureⁱ

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structureⁱ

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

Coiled coil

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesⁱ

Keywords - Domainⁱ

Phylogenomic databases

Family and domain databases

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)ⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

        10         20         30         40         50
MPLRPGDASS SASTASNRSR TRTRYRTKAM NSEVDESLFG GVKPSSQGKS 
        60         70         80         90        100
DSPIVVIHDK HAIRKTLSAL GLEHKTETIQ LITRDMVREL IVPTEDPSGE 
       110        120        130        140        150
SLIISPEEFE RIKWASQVLT KEELNAREQA LKKEKEGILE AVTIRKKIMK 
       160        170        180        190        200
QKEMTWNNNK KLSDLEEVAR ERAQNLLQRA DKLRMEQEEE LKDMSKIILN 
       210        220        230        240        250
AKCHAIRDAQ ILEKQQIQKE LDEEERRLDH MMEIDRRESL QRQEDRERKR 
       260        270        280        290        300
REERVRGKRH IVEQIKKNEE ERSLQAEHRE QEKEQMLAYL DRLQEEDLQD 
       310        320        330        340        350
LERRHQEKLK MQAEIKRIND ENQRQKAEML AQERLADQMV MEFTKKKMAR 
       360        370        380        390        400
EAEYEAEQEK IRREKEKEIA RLRALQEKAQ DYQAEQDALR AKRNQEVADR 
       410        420        430        440        450
EWRRKEKENA QKKIETEEKL RKSRLEQVAF KEHTLAVQVQ RDRDEFERIL 
       460        470        480        490        500
RAQREQIERE KQEQEKKAKG CLQHANELRR QVRENQQKHV QNRLATFEEG 
       510        520        530        540        550
RRLKEEAEKR RERIEDIKKQ KLEELRATGL PEKYCIEVER KANILPATSV 

N                                                      

Sequence databases

Genome annotation databases

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ

• 100% Identity
• 90% Identity
• 50% Identity

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousⁱ

Keywords - Technical termⁱ

Documents

1. MGD cross-references
   Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
2. SIMILARITY comments
   Index of protein domains and families