CFA45_HUMAN
ID CFA45_HUMAN Reviewed; 551 AA.
AC Q9UL16; C9JH28; Q05BA3; Q5VU18;
DT 23-JAN-2002, integrated into UniProtKB/Swiss-Prot.
DT 28-JUL-2009, sequence version 2.
DT 03-AUG-2022, entry version 134.
DE RecName: Full=Cilia- and flagella-associated protein 45 {ECO:0000312|HGNC:HGNC:17229};
DE AltName: Full=Coiled-coil domain-containing protein 19 {ECO:0000312|HGNC:HGNC:17229};
DE AltName: Full=Nasopharyngeal epithelium-specific protein 1 {ECO:0000312|EMBL:AAD55817.1};
GN Name=CFAP45 {ECO:0000312|HGNC:HGNC:17229};
GN Synonyms=CCDC19 {ECO:0000312|HGNC:HGNC:17229},
GN NESG1 {ECO:0000312|EMBL:AAD55817.1};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
RC TISSUE=Nasopharyngeal epithelium;
RX PubMed=10524255; DOI=10.1016/s0378-1119(99)00234-6;
RA Li Z., Yao K., Cao Y.;
RT "Molecular cloning of a novel tissue-specific gene from human
RT nasopharyngeal epithelium.";
RL Gene 237:235-240(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP FUNCTION, AMP-BINDING, INTERACTION WITH AK8; CFAP52; DNAH11; DNAI1; DNALI1
RP AND ENKUR, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INVOLVEMENT IN HTX11,
RP AND VARIANTS HTX11 241-GLN--ASN-551 DEL AND 303-ARG--ASN-551 DEL.
RX PubMed=33139725; DOI=10.1038/s41467-020-19113-0;
RA Dougherty G.W., Mizuno K., Noethe-Menchen T., Ikawa Y., Boldt K.,
RA Ta-Shma A., Aprea I., Minegishi K., Pang Y.P., Pennekamp P., Loges N.T.,
RA Raidt J., Hjeij R., Wallmeier J., Mussaffi H., Perles Z., Elpeleg O.,
RA Rabert F., Shiratori H., Letteboer S.J., Horn N., Young S., Struenker T.,
RA Stumme F., Werner C., Olbrich H., Takaoka K., Ide T., Twan W.K.,
RA Biebach L., Grosse-Onnebrink J., Klinkenbusch J.A., Praveen K.,
RA Bracht D.C., Hoeben I.M., Junger K., Guetzlaff J., Cindric S., Aviram M.,
RA Kaiser T., Memari Y., Dzeja P.P., Dworniczak B., Ueffing M., Roepman R.,
RA Bartscherer K., Katsanis N., Davis E.E., Amirav I., Hamada H., Omran H.;
RT "CFAP45 deficiency causes situs abnormalities and asthenospermia by
RT disrupting an axonemal adenine nucleotide homeostasis module.";
RL Nat. Commun. 11:5520-5520(2020).
CC -!- FUNCTION: Microtubule inner protein (MIP) part of the dynein-decorated
CC doublet microtubules (DMTs) in cilia axoneme, which is required for
CC motile cilia beating (By similarity). It is an AMP-binding protein that
CC may facilitate dynein ATPase-dependent ciliary and flagellar beating
CC via adenine nucleotide homeostasis. May function as a donor of AMP to
CC AK8 and hence promote ADP production (PubMed:33139725).
CC {ECO:0000250|UniProtKB:Q32LN4, ECO:0000269|PubMed:33139725}.
CC -!- SUBUNIT: Interacts with AK8; dimerization with AK8 may create a cavity
CC at the interface of the dimer that can accommodate AMP
CC (PubMed:33139725). Interacts with CFAP52 (PubMed:33139725). Interacts
CC with ENKUR (PubMed:33139725). Directly interacts with DNALI1
CC (PubMed:33139725). Interacts with DNAH11 (PubMed:33139725). Interacts
CC with DNAI1 (PubMed:33139725). {ECO:0000269|PubMed:33139725}.
CC -!- INTERACTION:
CC Q9UL16; Q8TC29: ENKUR; NbExp=3; IntAct=EBI-13039584, EBI-9246952;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000269|PubMed:33139725}. Cytoplasm, cytoskeleton, flagellum
CC axoneme {ECO:0000269|PubMed:33139725}. Note=Located in the proximal
CC region of respiratory cilia. {ECO:0000269|PubMed:33139725}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9UL16-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9UL16-2; Sequence=VSP_056614;
CC -!- TISSUE SPECIFICITY: Expressed in respiratory cells and in sperm (at
CC protein level) (PubMed:33139725). Expressed in nasopharyngeal
CC epithelium and trachea (PubMed:10524255). {ECO:0000269|PubMed:10524255,
CC ECO:0000269|PubMed:33139725}.
CC -!- DISEASE: Heterotaxy, visceral, 11, autosomal, with male infertility
CC (HTX11) [MIM:619608]: A form of visceral heterotaxy, a complex disorder
CC due to disruption of the normal left-right asymmetry of the
CC thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results
CC in randomization of the placement of visceral organs, including the
CC heart, lungs, liver, spleen, and stomach. The organs are oriented
CC randomly with respect to the left-right axis and with respect to one
CC another. It can be associated with a variety of congenital defects
CC including cardiac malformations. HTX11 is an autosomal recessive form
CC associated with male infertility due to reduced flagellar motility.
CC {ECO:0000269|PubMed:33139725}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the CFAP45 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAD55817.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAD55817.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AF094758; AAD55817.1; ALT_SEQ; mRNA.
DR EMBL; AL590560; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471121; EAW52766.1; -; Genomic_DNA.
DR EMBL; BC089391; AAH89391.1; -; mRNA.
DR CCDS; CCDS30914.1; -. [Q9UL16-1]
DR RefSeq; NP_036469.2; NM_012337.2. [Q9UL16-1]
DR AlphaFoldDB; Q9UL16; -.
DR SMR; Q9UL16; -.
DR BioGRID; 117323; 11.
DR IntAct; Q9UL16; 3.
DR STRING; 9606.ENSP00000357079; -.
DR iPTMnet; Q9UL16; -.
DR PhosphoSitePlus; Q9UL16; -.
DR BioMuta; CFAP45; -.
DR DMDM; 254763259; -.
DR jPOST; Q9UL16; -.
DR MassIVE; Q9UL16; -.
DR MaxQB; Q9UL16; -.
DR PaxDb; Q9UL16; -.
DR PeptideAtlas; Q9UL16; -.
DR PRIDE; Q9UL16; -.
DR ProteomicsDB; 58365; -.
DR ProteomicsDB; 84929; -. [Q9UL16-1]
DR Antibodypedia; 34262; 152 antibodies from 21 providers.
DR DNASU; 25790; -.
DR Ensembl; ENST00000368099.9; ENSP00000357079.4; ENSG00000213085.10. [Q9UL16-1]
DR Ensembl; ENST00000426543.6; ENSP00000403044.2; ENSG00000213085.10. [Q9UL16-2]
DR GeneID; 25790; -.
DR KEGG; hsa:25790; -.
DR MANE-Select; ENST00000368099.9; ENSP00000357079.4; NM_012337.3; NP_036469.2.
DR UCSC; uc001fui.4; human. [Q9UL16-1]
DR CTD; 25790; -.
DR DisGeNET; 25790; -.
DR GeneCards; CFAP45; -.
DR HGNC; HGNC:17229; CFAP45.
DR HPA; ENSG00000213085; Tissue enhanced (fallopian tube, testis).
DR MIM; 605152; gene.
DR MIM; 619608; phenotype.
DR neXtProt; NX_Q9UL16; -.
DR OpenTargets; ENSG00000213085; -.
DR PharmGKB; PA142672179; -.
DR VEuPathDB; HostDB:ENSG00000213085; -.
DR eggNOG; ENOG502QPRZ; Eukaryota.
DR GeneTree; ENSGT00730000111174; -.
DR HOGENOM; CLU_026959_1_1_1; -.
DR InParanoid; Q9UL16; -.
DR OMA; MRENCLP; -.
DR OrthoDB; 1428717at2759; -.
DR PhylomeDB; Q9UL16; -.
DR TreeFam; TF327685; -.
DR PathwayCommons; Q9UL16; -.
DR SignaLink; Q9UL16; -.
DR BioGRID-ORCS; 25790; 10 hits in 1065 CRISPR screens.
DR ChiTaRS; CFAP45; human.
DR GenomeRNAi; 25790; -.
DR Pharos; Q9UL16; Tbio.
DR PRO; PR:Q9UL16; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q9UL16; protein.
DR Bgee; ENSG00000213085; Expressed in right uterine tube and 120 other tissues.
DR ExpressionAtlas; Q9UL16; baseline and differential.
DR Genevisible; Q9UL16; HS.
DR GO; GO:0097728; C:9+0 motile cilium; IEA:Ensembl.
DR GO; GO:0097729; C:9+2 motile cilium; IDA:GO_Central.
DR GO; GO:0005879; C:axonemal microtubule; ISS:UniProtKB.
DR GO; GO:0005930; C:axoneme; IDA:GO_Central.
DR GO; GO:0005576; C:extracellular region; IEA:GOC.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; NAS:UniProtKB.
DR GO; GO:0016208; F:AMP binding; IDA:GO_Central.
DR GO; GO:0090660; P:cerebrospinal fluid circulation; IEA:Ensembl.
DR GO; GO:0060287; P:epithelial cilium movement involved in determination of left/right asymmetry; IEA:Ensembl.
DR GO; GO:0061966; P:establishment of left/right asymmetry; IMP:GO_Central.
DR GO; GO:0030317; P:flagellated sperm motility; IMP:GO_Central.
DR GO; GO:0060296; P:regulation of cilium beat frequency involved in ciliary motility; IEA:Ensembl.
DR InterPro; IPR033253; CFAP45.
DR InterPro; IPR043597; TPH_dom.
DR PANTHER; PTHR15504; PTHR15504; 1.
DR Pfam; PF13868; TPH; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Ciliopathy; Cilium; Coiled coil;
KW Cytoplasm; Cytoskeleton; Disease variant; Flagellum; Heterotaxy;
KW Reference proteome.
FT CHAIN 1..551
FT /note="Cilia- and flagella-associated protein 45"
FT /id="PRO_0000089410"
FT REGION 1..30
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 461..489
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 157..526
FT /evidence="ECO:0000255"
FT COMPBIAS 1..20
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 461..487
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..85
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_056614"
FT VARIANT 241..551
FT /note="Missing (in HTX11; loss of panaxonemal expression in
FT respiratory cilia and in sperm flagella)"
FT /evidence="ECO:0000269|PubMed:33139725"
FT /id="VAR_085330"
FT VARIANT 291
FT /note="E -> G (in dbSNP:rs16842789)"
FT /id="VAR_059600"
FT VARIANT 303..551
FT /note="Missing (in HTX11; loss of panaxonemal expression in
FT respiratory cilia and in sperm flagella;
FT dbSNP:rs201144590)"
FT /evidence="ECO:0000269|PubMed:33139725"
FT /id="VAR_085331"
SQ SEQUENCE 551 AA; 65730 MW; 494494858D1E90B4 CRC64;
MPLSTAGILS SSSAASNRSR NKARYRTKAV SSEVDESLFG DIKSPAQGQS DSPIVLLRDK
HTLQKTLTAL GLDRKPETIQ LITRDMVREL IVPTEDPSGE SLIISPEEFE RIKWASHVLT
REELEARDQA FKKEKEATMD AVMTRKKIMK QKEMVWNNNK KLSDLEEVAK ERAQNLLQRA
NKLRMEQEEE LKDMSKIILN AKCHAIRDAQ ILEKQQIQKE LDTEEKRLDQ MMEVERQKSI
QRQEELERKR REERIRGRRQ IVEQMEKNQE ERSLLAEQRE QEKEQMLEYM EQLQEEDLKD
MERRQQQKLK MQAEIKRIND ENQKQKAELL AQEKLADQMV MEFTKKKMAR EAEFEAEQER
IRREKEKEIA RLRAMQEKAQ DYQAEQDALR AKRNQEVADR EWRRKEKENA RKKMETEAEL
RKSRLEQVAF KEHALAVQVQ RDRDEFERIL RAQREQIEKE RLEEEKKATG RLQHANELRR
QVRENQQKEV QNRIATFEEG RRLKEEAQKR RERIDEIKRK KLEELRATGL PEKYCIEAER
KANILPATSV N
