PCP2_HUMAN
ID PCP2_HUMAN Reviewed; 136 AA.
AC Q8IVA1; M0R2R7; Q3KRG7;
DT 11-APR-2003, integrated into UniProtKB/Swiss-Prot.
DT 19-SEP-2006, sequence version 2.
DT 03-AUG-2022, entry version 133.
DE RecName: Full=Purkinje cell protein 2 homolog;
GN Name=PCP2;
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=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [2]
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).
CC -!- FUNCTION: May function as a cell-type specific modulator for G protein-
CC mediated cell signaling. {ECO:0000250}.
CC -!- INTERACTION:
CC Q8IVA1; P63096: GNAI1; NbExp=6; IntAct=EBI-12250122, EBI-618639;
CC Q8IVA1; P04899: GNAI2; NbExp=3; IntAct=EBI-12250122, EBI-353997;
CC Q8IVA1; P08754: GNAI3; NbExp=9; IntAct=EBI-12250122, EBI-357563;
CC Q8IVA1; P50221: MEOX1; NbExp=3; IntAct=EBI-12250122, EBI-2864512;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8IVA1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IVA1-2; Sequence=VSP_055654;
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DR EMBL; AC008763; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC025387; AAH25387.1; -; mRNA.
DR EMBL; BC038715; AAH38715.2; -; mRNA.
DR CCDS; CCDS32893.1; -. [Q8IVA1-1]
DR CCDS; CCDS62521.1; -. [Q8IVA1-2]
DR RefSeq; NP_001258759.1; NM_001271830.1. [Q8IVA1-2]
DR RefSeq; NP_777555.1; NM_174895.2. [Q8IVA1-1]
DR RefSeq; XP_016881740.1; XM_017026251.1. [Q8IVA1-1]
DR AlphaFoldDB; Q8IVA1; -.
DR BioGRID; 125946; 20.
DR IntAct; Q8IVA1; 10.
DR STRING; 9606.ENSP00000310585; -.
DR iPTMnet; Q8IVA1; -.
DR PhosphoSitePlus; Q8IVA1; -.
DR BioMuta; PCP2; -.
DR DMDM; 115311615; -.
DR MassIVE; Q8IVA1; -.
DR PaxDb; Q8IVA1; -.
DR PeptideAtlas; Q8IVA1; -.
DR PRIDE; Q8IVA1; -.
DR ProteomicsDB; 70677; -. [Q8IVA1-1]
DR Antibodypedia; 57393; 31 antibodies from 13 providers.
DR DNASU; 126006; -.
DR Ensembl; ENST00000311069.6; ENSP00000310585.4; ENSG00000174788.10. [Q8IVA1-1]
DR Ensembl; ENST00000598935.5; ENSP00000472761.1; ENSG00000174788.10. [Q8IVA1-2]
DR GeneID; 126006; -.
DR KEGG; hsa:126006; -.
DR MANE-Select; ENST00000311069.6; ENSP00000310585.4; NM_174895.3; NP_777555.1.
DR UCSC; uc002mgz.4; human. [Q8IVA1-1]
DR CTD; 126006; -.
DR DisGeNET; 126006; -.
DR GeneCards; PCP2; -.
DR HGNC; HGNC:30209; PCP2.
DR HPA; ENSG00000174788; Group enriched (brain, retina, testis).
DR MIM; 619344; gene.
DR neXtProt; NX_Q8IVA1; -.
DR OpenTargets; ENSG00000174788; -.
DR PharmGKB; PA134864901; -.
DR VEuPathDB; HostDB:ENSG00000174788; -.
DR eggNOG; KOG1130; Eukaryota.
DR GeneTree; ENSGT00940000162025; -.
DR HOGENOM; CLU_166511_0_0_1; -.
DR InParanoid; Q8IVA1; -.
DR OMA; GHRMDDQ; -.
DR OrthoDB; 1426072at2759; -.
DR PhylomeDB; Q8IVA1; -.
DR PathwayCommons; Q8IVA1; -.
DR Reactome; R-HSA-418594; G alpha (i) signalling events.
DR SignaLink; Q8IVA1; -.
DR SIGNOR; Q8IVA1; -.
DR BioGRID-ORCS; 126006; 15 hits in 1078 CRISPR screens.
DR GenomeRNAi; 126006; -.
DR Pharos; Q8IVA1; Tdark.
DR PRO; PR:Q8IVA1; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q8IVA1; protein.
DR Bgee; ENSG00000174788; Expressed in left testis and 104 other tissues.
DR Genevisible; Q8IVA1; HS.
DR GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; IBA:GO_Central.
DR Gene3D; 1.25.40.10; -; 1.
DR InterPro; IPR003109; GoLoco_motif.
DR InterPro; IPR042168; Pcp2.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR PANTHER; PTHR47503; PTHR47503; 1.
DR Pfam; PF02188; GoLoco; 2.
DR SMART; SM00390; GoLoco; 2.
DR PROSITE; PS50877; GOLOCO; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Phosphoprotein; Reference proteome; Repeat.
FT CHAIN 1..136
FT /note="Purkinje cell protein 2 homolog"
FT /id="PRO_0000058260"
FT DOMAIN 23..45
FT /note="GoLoco 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00097"
FT DOMAIN 63..85
FT /note="GoLoco 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00097"
FT REGION 1..64
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 86..136
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 45..62
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 107..136
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 127
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P12660"
FT VAR_SEQ 1..17
FT /note="MMDQEEKTEEGSGPCAE -> M (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_055654"
SQ SEQUENCE 136 AA; 14547 MW; 7BCD39A60924DC59 CRC64;
MMDQEEKTEE GSGPCAEAGS PDQEGFFNLL SHVQGDRMEG QRCSLQAGPG QTTKSQSDPT
PEMDSLMDML ASTQGRRMDD QRVTVSSLPG FQPVGSKDGA QKRAGTLSPQ PLLTPQDPTA
LGFRRNSSPQ PPTQAP
