CPLN2_HUMAN
ID CPLN2_HUMAN Reviewed; 258 AA.
AC Q9BU20; Q5TEV7;
DT 17-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 17-APR-2007, sequence version 2.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=Ciliogenesis and planar polarity effector 2 {ECO:0000305};
DE AltName: Full=REM2- and Rab-like small GTPase 1 {ECO:0000250|UniProtKB:Q6GNL4};
GN Name=CPLANE2 {ECO:0000312|HGNC:HGNC:28127};
GN Synonyms=C1orf89, RSG1 {ECO:0000250|UniProtKB:Q6GNL4};
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 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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT GLY-86.
RC TISSUE=Skin;
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 [3]
RP VARIANT LEU-161.
RX PubMed=27717682; DOI=10.1016/j.jstrokecerebrovasdis.2016.09.003;
RA Mukawa M., Nariai T., Onda H., Yoneyama T., Aihara Y., Hirota K., Kudo T.,
RA Sumita K., Maehara T., Kawamata T., Kasuya H., Akagawa H.;
RT "Exome sequencing identified CCER2 as a novel candidate gene for Moyamoya
RT disease.";
RL J. Stroke Cerebrovasc. Dis. 26:150-161(2017).
CC -!- FUNCTION: Potential effector of the planar cell polarity signaling
CC pathway. Plays a role in targeted membrane trafficking most probably at
CC the level of vesicle fusion with membranes. Involved in cilium
CC biogenesis by regulating the transport of cargo proteins to the basal
CC body and to the apical tips of cilia. More generally involved in
CC exocytosis in secretory cells (By similarity).
CC {ECO:0000250|UniProtKB:Q6GNL4}.
CC -!- INTERACTION:
CC Q9BU20; Q9BT04: FUZ; NbExp=8; IntAct=EBI-750332, EBI-750341;
CC Q9BU20; P12268: IMPDH2; NbExp=6; IntAct=EBI-750332, EBI-353389;
CC Q9BU20; P61587: RND3; NbExp=3; IntAct=EBI-750332, EBI-1111534;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body
CC {ECO:0000250|UniProtKB:Q6GNL4}.
CC -!- SIMILARITY: Belongs to the small GTPase superfamily. Rab family.
CC {ECO:0000305}.
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DR EMBL; AL109627; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC002946; AAH02946.1; -; mRNA.
DR EMBL; BC008702; AAH08702.1; -; mRNA.
DR CCDS; CCDS171.1; -.
DR RefSeq; NP_112169.2; NM_030907.3.
DR AlphaFoldDB; Q9BU20; -.
DR SMR; Q9BU20; -.
DR BioGRID; 122652; 12.
DR IntAct; Q9BU20; 7.
DR STRING; 9606.ENSP00000364749; -.
DR iPTMnet; Q9BU20; -.
DR PhosphoSitePlus; Q9BU20; -.
DR BioMuta; RSG1; -.
DR DMDM; 145558869; -.
DR MassIVE; Q9BU20; -.
DR PaxDb; Q9BU20; -.
DR PeptideAtlas; Q9BU20; -.
DR PRIDE; Q9BU20; -.
DR Antibodypedia; 29156; 49 antibodies from 15 providers.
DR DNASU; 79363; -.
DR Ensembl; ENST00000375599.8; ENSP00000364749.2; ENSG00000132881.12.
DR GeneID; 79363; -.
DR KEGG; hsa:79363; -.
DR MANE-Select; ENST00000375599.8; ENSP00000364749.2; NM_030907.4; NP_112169.2.
DR UCSC; uc001ayd.4; human.
DR CTD; 79363; -.
DR DisGeNET; 79363; -.
DR GeneCards; CPLANE2; -.
DR HGNC; HGNC:28127; CPLANE2.
DR HPA; ENSG00000132881; Low tissue specificity.
DR neXtProt; NX_Q9BU20; -.
DR PharmGKB; PA142672473; -.
DR VEuPathDB; HostDB:ENSG00000132881; -.
DR eggNOG; KOG0395; Eukaryota.
DR GeneTree; ENSGT00390000006521; -.
DR HOGENOM; CLU_094613_0_0_1; -.
DR InParanoid; Q9BU20; -.
DR OMA; LWHQDCV; -.
DR OrthoDB; 1324082at2759; -.
DR PhylomeDB; Q9BU20; -.
DR TreeFam; TF329319; -.
DR PathwayCommons; Q9BU20; -.
DR SignaLink; Q9BU20; -.
DR BioGRID-ORCS; 79363; 14 hits in 1078 CRISPR screens.
DR GenomeRNAi; 79363; -.
DR Pharos; Q9BU20; Tdark.
DR PRO; PR:Q9BU20; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q9BU20; protein.
DR Bgee; ENSG00000132881; Expressed in anterior cingulate cortex and 95 other tissues.
DR ExpressionAtlas; Q9BU20; baseline and differential.
DR Genevisible; Q9BU20; HS.
DR GO; GO:0005814; C:centriole; IEA:Ensembl.
DR GO; GO:0036064; C:ciliary basal body; ISS:UniProtKB.
DR GO; GO:0097546; C:ciliary base; IEA:Ensembl.
DR GO; GO:0035869; C:ciliary transition zone; IEA:Ensembl.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0005525; F:GTP binding; IEA:UniProtKB-KW.
DR GO; GO:0003924; F:GTPase activity; IEA:Ensembl.
DR GO; GO:0035082; P:axoneme assembly; IEA:Ensembl.
DR GO; GO:0060271; P:cilium assembly; ISS:UniProtKB.
DR GO; GO:1904888; P:cranial skeletal system development; IEA:Ensembl.
DR GO; GO:0003274; P:endocardial cushion fusion; IEA:Ensembl.
DR GO; GO:0006887; P:exocytosis; IEA:UniProtKB-KW.
DR GO; GO:0060173; P:limb development; IEA:Ensembl.
DR GO; GO:0008104; P:protein localization; ISS:UniProtKB.
DR GO; GO:0016485; P:protein processing; IEA:Ensembl.
DR GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
DR GO; GO:0017157; P:regulation of exocytosis; ISS:UniProtKB.
DR GO; GO:1901620; P:regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning; IEA:Ensembl.
DR GO; GO:0031338; P:regulation of vesicle fusion; ISS:UniProtKB.
DR GO; GO:0007224; P:smoothened signaling pathway; IEA:Ensembl.
DR Gene3D; 3.40.50.300; -; 1.
DR InterPro; IPR027417; P-loop_NTPase.
DR InterPro; IPR039677; RSG1.
DR InterPro; IPR001806; Small_GTPase.
DR PANTHER; PTHR14983; PTHR14983; 1.
DR Pfam; PF00071; Ras; 1.
DR SUPFAM; SSF52540; SSF52540; 1.
PE 1: Evidence at protein level;
KW Cell projection; Cilium; Cilium biogenesis/degradation; Cytoplasm;
KW Cytoskeleton; Exocytosis; GTP-binding; Nucleotide-binding;
KW Protein transport; Reference proteome; Transport.
FT CHAIN 1..258
FT /note="Ciliogenesis and planar polarity effector 2"
FT /id="PRO_0000284538"
FT REGION 50..258
FT /note="Small GTPase-like"
FT BINDING 62..69
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000250"
FT BINDING 175..178
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000250"
FT VARIANT 86
FT /note="E -> G (in dbSNP:rs17849687)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_031772"
FT VARIANT 161
FT /note="I -> L"
FT /evidence="ECO:0000269|PubMed:27717682"
FT /id="VAR_079173"
SQ SEQUENCE 258 AA; 28498 MW; 1DE50934C59A6BD0 CRC64;
MARPPVPGSV VVPNWHESAE GKEYLACILR KNRRRVFGLL ERPVLLPPVS IDTASYKIFV
SGKSGVGKTA LVAKLAGLEV PVVHHETTGI QTTVVFWPAK LQASSRVVMF RFEFWDCGES
ALKKFDHMLL ACMENTDAFL FLFSFTDRAS FEDLPGQLAR IAGEAPGVVR MVIGSKFDQY
MHTDVPERDL TAFRQAWELP LLRVKSVPGR RLADGRTLDG RAGLADVAHI LNGLAEQLWH
QDQVAAGLLP NPPESAPE
