CP100_HUMAN
ID CP100_HUMAN Reviewed; 611 AA.
AC Q494V2; D3DNA8; Q494V1; Q494V4; Q8N838;
DT 16-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 13-SEP-2005, sequence version 1.
DT 03-AUG-2022, entry version 117.
DE RecName: Full=Cilia- and flagella-associated protein 100 {ECO:0000305};
DE AltName: Full=Coiled-coil domain-containing protein 37 {ECO:0000305};
GN Name=CFAP100 {ECO:0000312|HGNC:HGNC:26842};
GN Synonyms=CCDC37 {ECO:0000312|HGNC:HGNC:26842};
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 [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
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).
CC -!- FUNCTION: May play a role in ciliary/flagellar motility by regulating
CC the assembly and the activity of axonemal inner dynein arm.
CC {ECO:0000250|UniProtKB:A8I4E9}.
CC -!- INTERACTION:
CC Q494V2-2; P55212: CASP6; NbExp=3; IntAct=EBI-11953200, EBI-718729;
CC Q494V2-2; P06307: CCK; NbExp=3; IntAct=EBI-11953200, EBI-6624398;
CC Q494V2-2; O75190: DNAJB6; NbExp=3; IntAct=EBI-11953200, EBI-1053164;
CC Q494V2-2; Q01658: DR1; NbExp=3; IntAct=EBI-11953200, EBI-750300;
CC Q494V2-2; P11171-7: EPB41; NbExp=3; IntAct=EBI-11953200, EBI-25852354;
CC Q494V2-2; P22607: FGFR3; NbExp=3; IntAct=EBI-11953200, EBI-348399;
CC Q494V2-2; Q9Y5Q9: GTF3C3; NbExp=3; IntAct=EBI-11953200, EBI-1054873;
CC Q494V2-2; P01112: HRAS; NbExp=3; IntAct=EBI-11953200, EBI-350145;
CC Q494V2-2; O60333-2: KIF1B; NbExp=3; IntAct=EBI-11953200, EBI-10975473;
CC Q494V2-2; P07196: NEFL; NbExp=3; IntAct=EBI-11953200, EBI-475646;
CC Q494V2-2; O60356: NUPR1; NbExp=3; IntAct=EBI-11953200, EBI-3908808;
CC Q494V2-2; P07237: P4HB; NbExp=3; IntAct=EBI-11953200, EBI-395883;
CC Q494V2-2; O75400-2: PRPF40A; NbExp=3; IntAct=EBI-11953200, EBI-5280197;
CC Q494V2-2; P62826: RAN; NbExp=3; IntAct=EBI-11953200, EBI-286642;
CC Q494V2-2; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-11953200, EBI-5235340;
CC Q494V2-2; Q8N0S2: SYCE1; NbExp=3; IntAct=EBI-11953200, EBI-6872807;
CC Q494V2-2; Q13148: TARDBP; NbExp=6; IntAct=EBI-11953200, EBI-372899;
CC Q494V2-2; P02766: TTR; NbExp=3; IntAct=EBI-11953200, EBI-711909;
CC Q494V2-2; Q9UMX0: UBQLN1; NbExp=3; IntAct=EBI-11953200, EBI-741480;
CC Q494V2-2; O76024: WFS1; NbExp=3; IntAct=EBI-11953200, EBI-720609;
CC Q494V2-2; Q9Y649; NbExp=3; IntAct=EBI-11953200, EBI-25900580;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000250|UniProtKB:A8I4E9}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q494V2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q494V2-2; Sequence=VSP_018328;
CC -!- SIMILARITY: Belongs to the CFAP100 family. {ECO:0000305}.
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DR EMBL; AK097402; BAC05035.1; -; mRNA.
DR EMBL; CH471052; EAW79363.1; -; Genomic_DNA.
DR EMBL; CH471052; EAW79364.1; -; Genomic_DNA.
DR EMBL; BC101366; AAI01367.1; -; mRNA.
DR EMBL; BC101367; AAI01368.2; -; mRNA.
DR EMBL; BC101368; AAI01369.1; -; mRNA.
DR EMBL; BC101369; AAI01370.1; -; mRNA.
DR CCDS; CCDS3037.1; -. [Q494V2-1]
DR RefSeq; NP_872434.2; NM_182628.2. [Q494V2-1]
DR RefSeq; XP_006713686.1; XM_006713623.2. [Q494V2-1]
DR AlphaFoldDB; Q494V2; -.
DR SMR; Q494V2; -.
DR BioGRID; 131533; 8.
DR IntAct; Q494V2; 27.
DR MINT; Q494V2; -.
DR STRING; 9606.ENSP00000344749; -.
DR iPTMnet; Q494V2; -.
DR PhosphoSitePlus; Q494V2; -.
DR BioMuta; CFAP100; -.
DR DMDM; 97045019; -.
DR MassIVE; Q494V2; -.
DR PaxDb; Q494V2; -.
DR PeptideAtlas; Q494V2; -.
DR PRIDE; Q494V2; -.
DR ProteomicsDB; 61941; -. [Q494V2-1]
DR ProteomicsDB; 61942; -. [Q494V2-2]
DR Antibodypedia; 46637; 148 antibodies from 21 providers.
DR DNASU; 348807; -.
DR Ensembl; ENST00000352312.6; ENSP00000344749.1; ENSG00000163885.12. [Q494V2-1]
DR Ensembl; ENST00000505024.1; ENSP00000423046.1; ENSG00000163885.12. [Q494V2-2]
DR GeneID; 348807; -.
DR KEGG; hsa:348807; -.
DR MANE-Select; ENST00000352312.6; ENSP00000344749.1; NM_182628.3; NP_872434.2.
DR UCSC; uc003eiu.1; human. [Q494V2-1]
DR CTD; 348807; -.
DR DisGeNET; 348807; -.
DR GeneCards; CFAP100; -.
DR HGNC; HGNC:26842; CFAP100.
DR HPA; ENSG00000163885; Group enriched (brain, choroid plexus, fallopian tube, testis).
DR neXtProt; NX_Q494V2; -.
DR OpenTargets; ENSG00000163885; -.
DR PharmGKB; PA142672192; -.
DR VEuPathDB; HostDB:ENSG00000163885; -.
DR eggNOG; ENOG502QSDI; Eukaryota.
DR GeneTree; ENSGT00940000153110; -.
DR HOGENOM; CLU_026271_0_1_1; -.
DR InParanoid; Q494V2; -.
DR OMA; YKIYKDF; -.
DR OrthoDB; 1092113at2759; -.
DR PhylomeDB; Q494V2; -.
DR TreeFam; TF328835; -.
DR PathwayCommons; Q494V2; -.
DR SignaLink; Q494V2; -.
DR BioGRID-ORCS; 348807; 5 hits in 1063 CRISPR screens.
DR ChiTaRS; CFAP100; human.
DR GenomeRNAi; 348807; -.
DR Pharos; Q494V2; Tbio.
DR PRO; PR:Q494V2; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q494V2; protein.
DR Bgee; ENSG00000163885; Expressed in right uterine tube and 126 other tissues.
DR ExpressionAtlas; Q494V2; baseline and differential.
DR Genevisible; Q494V2; HS.
DR GO; GO:0097545; C:axonemal outer doublet; ISS:UniProtKB.
DR GO; GO:0036064; C:ciliary basal body; IDA:GO_Central.
DR GO; GO:0031514; C:motile cilium; ISS:UniProtKB.
DR GO; GO:0070840; F:dynein complex binding; ISS:UniProtKB.
DR GO; GO:0003341; P:cilium movement; ISS:UniProtKB.
DR GO; GO:0036159; P:inner dynein arm assembly; ISS:UniProtKB.
DR InterPro; IPR025252; DUF4200.
DR Pfam; PF13863; DUF4200; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Cilium; Coiled coil; Cytoplasm;
KW Cytoskeleton; Reference proteome.
FT CHAIN 1..611
FT /note="Cilia- and flagella-associated protein 100"
FT /id="PRO_0000234487"
FT REGION 1..57
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 287..323
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 338..380
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 101..128
FT /evidence="ECO:0000255"
FT COILED 164..203
FT /evidence="ECO:0000255"
FT COILED 230..257
FT /evidence="ECO:0000255"
FT COILED 393..432
FT /evidence="ECO:0000255"
FT COILED 526..578
FT /evidence="ECO:0000255"
FT COMPBIAS 1..33
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 34..48
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 338..371
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 139
FT /note="K -> KA (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_018328"
FT CONFLICT 36
FT /note="K -> E (in Ref. 1; BAC05035)"
FT /evidence="ECO:0000305"
FT CONFLICT 244
FT /note="S -> G (in Ref. 1; BAC05035)"
FT /evidence="ECO:0000305"
FT CONFLICT 412
FT /note="Missing (in Ref. 3; AAI01370/AAI01368)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 611 AA; 71117 MW; 34949CC07299588A CRC64;
MSEIPSTIVS KNMTNDKNSL ESMNISSSSS TEENPKKQAR KNEEHGPDPS ANPFHLSGDV
DFFLLRDQER NKALSERQQQ KTMRVHQKMT YSSKVSAKHT SLRRQLQLED KQEDLEARAE
AEHQRAFRDY TTWKLTLTKE KNVEPENMSG YIKQKRQMFL LQYALDVKRR EIQRLETLAT
KEEARLERAE KSLEKDAALF DEFVRENDCS SVQAMRAAEK ETKAKIEKIL EIRDLTTQIV
NIKSEISRFE DTLKHYKVYK DFLYKLSPKE WLEEQEKKHS FLKKAKEVSE ASKESSVNST
PGDKGPGIKG KASSMWAKEG QGTKKPWRFL QTMRLGRSPS YLSSPQQGSQ PSESSGGDSR
GSNSPIPPTQ EDTDSDGEEP QLYFTEPQQL LDVFRELEEQ NLSLIQNSQE TEKTLEELSH
TLKHTQIRMD REVNQLKQWV TTMMMSITKE EDTAAELELK ARVFHFGEYK GDQQDKLLES
LNCKVLDVYR HCTGTQQEAN LGTVQMLTII EHQLDELLEN LEHVPQVKIE QAERAKEKER
RIRLREEKLQ MQKILQEEHL QRARARAQAE IKKKRGRTLV CRSRPPAHRI KQQSEHTLMD
KEEEELLFFF T
