CFA36_HUMAN
ID CFA36_HUMAN Reviewed; 342 AA.
AC Q96G28; Q53SF0; Q53ST9; Q6UY34;
DT 20-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 20-FEB-2007, sequence version 2.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=Cilia- and flagella-associated protein 36 {ECO:0000312|HGNC:HGNC:30540};
DE AltName: Full=Coiled-coil domain-containing protein 104 {ECO:0000312|HGNC:HGNC:30540};
GN Name=CFAP36; Synonyms=CCDC104; ORFNames=UNQ163/PRO189;
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 2), AND VARIANT GLY-243.
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS GLY-243
RP AND PHE-246.
RC TISSUE=B-cell;
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 [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in a
RT refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [5]
RP SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=19680650; DOI=10.1007/s00262-009-0742-3;
RA Totland C., Bredholt G., Haugen M., Haukanes B.I., Vedeler C.A.;
RT "Antibody to CCDC104 is associated with a paraneoplastic antibody to CDR2
RT (anti-Yo).";
RL Cancer Immunol. Immunother. 59:231-237(2010).
RN [6]
RP INTERACTION WITH ARL3, AND POSSIBLE FUNCTION.
RX PubMed=22085962; DOI=10.1101/gad.173443.111;
RA Wright K.J., Baye L.M., Olivier-Mason A., Mukhopadhyay S., Sang L.,
RA Kwong M., Wang W., Pretorius P.R., Sheffield V.C., Sengupta P.,
RA Slusarski D.C., Jackson P.K.;
RT "An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary
RT cilium.";
RL Genes Dev. 25:2347-2360(2011).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- FUNCTION: May act as an effector for ARL3.
CC -!- SUBUNIT: Interacts with ARL3. {ECO:0000269|PubMed:22085962}.
CC -!- INTERACTION:
CC Q96G28; Q15038: DAZAP2; NbExp=3; IntAct=EBI-2654750, EBI-724310;
CC Q96G28; Q9WUL7: Arl3; Xeno; NbExp=2; IntAct=EBI-2654750, EBI-6860857;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000303|PubMed:19680650}. Cytoplasm
CC {ECO:0000303|PubMed:19680650}. Cell projection, cilium, flagellum
CC {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96G28-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96G28-2; Sequence=VSP_023338;
CC -!- TISSUE SPECIFICITY: Expressed in several human tissues including brain,
CC testis, heart, lung, pancreas and spleen (at protein level).
CC {ECO:0000303|PubMed:19680650}.
CC -!- SIMILARITY: Belongs to the CFAP36 family. {ECO:0000305}.
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DR EMBL; AY358097; AAQ88464.1; -; mRNA.
DR EMBL; BC010011; AAH10011.1; -; mRNA.
DR EMBL; AC019198; AAY14933.1; -; Genomic_DNA.
DR EMBL; AC015982; AAY24269.1; -; Genomic_DNA.
DR CCDS; CCDS1854.2; -. [Q96G28-1]
DR CCDS; CCDS62911.1; -. [Q96G28-2]
DR RefSeq; NP_001269690.1; NM_001282761.1. [Q96G28-2]
DR RefSeq; NP_542398.3; NM_080667.6. [Q96G28-1]
DR AlphaFoldDB; Q96G28; -.
DR SMR; Q96G28; -.
DR BioGRID; 125218; 14.
DR DIP; DIP-57013N; -.
DR IntAct; Q96G28; 14.
DR MINT; Q96G28; -.
DR STRING; 9606.ENSP00000342699; -.
DR iPTMnet; Q96G28; -.
DR PhosphoSitePlus; Q96G28; -.
DR BioMuta; CFAP36; -.
DR DMDM; 126215682; -.
DR EPD; Q96G28; -.
DR jPOST; Q96G28; -.
DR MassIVE; Q96G28; -.
DR MaxQB; Q96G28; -.
DR PaxDb; Q96G28; -.
DR PeptideAtlas; Q96G28; -.
DR PRIDE; Q96G28; -.
DR ProteomicsDB; 76589; -. [Q96G28-1]
DR ProteomicsDB; 76590; -. [Q96G28-2]
DR Antibodypedia; 2144; 48 antibodies from 14 providers.
DR DNASU; 112942; -.
DR Ensembl; ENST00000339012.7; ENSP00000342699.3; ENSG00000163001.12. [Q96G28-2]
DR Ensembl; ENST00000349456.9; ENSP00000295117.4; ENSG00000163001.12. [Q96G28-1]
DR GeneID; 112942; -.
DR KEGG; hsa:112942; -.
DR MANE-Select; ENST00000349456.9; ENSP00000295117.4; NM_080667.7; NP_542398.3.
DR UCSC; uc002ryx.4; human. [Q96G28-1]
DR CTD; 112942; -.
DR DisGeNET; 112942; -.
DR GeneCards; CFAP36; -.
DR HGNC; HGNC:30540; CFAP36.
DR HPA; ENSG00000163001; Low tissue specificity.
DR neXtProt; NX_Q96G28; -.
DR OpenTargets; ENSG00000163001; -.
DR PharmGKB; PA145008608; -.
DR VEuPathDB; HostDB:ENSG00000163001; -.
DR eggNOG; KOG4511; Eukaryota.
DR GeneTree; ENSGT00390000012785; -.
DR InParanoid; Q96G28; -.
DR OMA; LVDFMLG; -.
DR OrthoDB; 1373952at2759; -.
DR PhylomeDB; Q96G28; -.
DR TreeFam; TF315143; -.
DR PathwayCommons; Q96G28; -.
DR SignaLink; Q96G28; -.
DR BioGRID-ORCS; 112942; 11 hits in 1080 CRISPR screens.
DR ChiTaRS; CFAP36; human.
DR GenomeRNAi; 112942; -.
DR Pharos; Q96G28; Tdark.
DR PRO; PR:Q96G28; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q96G28; protein.
DR Bgee; ENSG00000163001; Expressed in left testis and 182 other tissues.
DR ExpressionAtlas; Q96G28; baseline and differential.
DR Genevisible; Q96G28; HS.
DR GO; GO:0005930; C:axoneme; IBA:GO_Central.
DR GO; GO:0097546; C:ciliary base; IBA:GO_Central.
DR GO; GO:0035869; C:ciliary transition zone; IDA:UniProtKB.
DR GO; GO:0031514; C:motile cilium; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0047485; F:protein N-terminus binding; IMP:UniProtKB.
DR Gene3D; 1.20.1520.10; -; 1.
DR InterPro; IPR023379; BART_dom.
DR InterPro; IPR042541; BART_sf.
DR InterPro; IPR038888; CFAP36.
DR PANTHER; PTHR21532; PTHR21532; 1.
DR Pfam; PF11527; ARL2_Bind_BART; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Cilium; Coiled coil; Cytoplasm;
KW Flagellum; Nucleus; Phosphoprotein; Reference proteome.
FT CHAIN 1..342
FT /note="Cilia- and flagella-associated protein 36"
FT /id="PRO_0000278638"
FT REGION 166..194
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 229..250
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 282..322
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 150..187
FT /evidence="ECO:0000255"
FT COMPBIAS 166..189
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 282..296
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 303..322
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 85
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8C6E0"
FT MOD_RES 147
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8C6E0"
FT MOD_RES 201
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8C6E0"
FT VAR_SEQ 39
FT /note="V -> VNCKGGHVITPGSPEPVILVACVPLV (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12975309"
FT /id="VSP_023338"
FT VARIANT 6
FT /note="E -> D (in dbSNP:rs34891804)"
FT /id="VAR_050725"
FT VARIANT 243
FT /note="D -> G (in dbSNP:rs1045910)"
FT /evidence="ECO:0000269|PubMed:12975309,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_030795"
FT VARIANT 246
FT /note="I -> F (in dbSNP:rs1045920)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_030796"
SQ SEQUENCE 342 AA; 39447 MW; C8ACF26FC57DFBD6 CRC64;
MAAEEEDEVE WVVESIAGFL RGPDWSIPIL DFVEQKCEVF DDEEESKLTY TEIHQEYKEL
VEKLLEGYLK EIGINEDQFQ EACTSPLAKT HTSQAILQPV LAAEDFTIFK AMMVQKNIEM
QLQAIRIIQE RNGVLPDCLT DGSDVVSDLE HEEMKILREV LRKSKEEYDQ EEERKRKKQL
SEAKTEEPTV HSSEAAIMNN SQGDGEHFAH PPSEVKMHFA NQSIEPLGRK VERSETSSLP
QKDLKIPGLE HASIEGPIAN LSVLGTEELR QREHYLKQKR DKLMSMRKDM RTKQIQNMEQ
KGKPTGEVEE MTEKPEMTAE EKQTLLKRRL LAEKLKEEVI NK
