PCARE_MOUSE
ID PCARE_MOUSE Reviewed; 1279 AA.
AC Q6PAC4; Q8BXR7; Q8R0C5;
DT 08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 101.
DE RecName: Full=Photoreceptor cilium actin regulator {ECO:0000250|UniProtKB:A6NGG8};
GN Name=Pcare {ECO:0000312|MGI:MGI:2385061};
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Eye;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 730-1279.
RC STRAIN=C57BL/6J; TISSUE=Retina;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [3]
RP DEVELOPMENTAL STAGE.
RX PubMed=20398884; DOI=10.1016/j.ajhg.2010.03.016;
RA Collin R.W.J., Safieh C., Littink K.W., Shalev S.A., Garzozi H.J.,
RA Rizel L., Abbasi A.H., Cremers F.P.M., den Hollander A.I., Klevering B.J.,
RA Ben-Yosef T.;
RT "Mutations in C2orf71 cause autosomal-recessive retinitis pigmentosa.";
RL Am. J. Hum. Genet. 86:783-788(2010).
RN [4]
RP DISRUPTION PHENOTYPE, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, AND
RP FUNCTION.
RX PubMed=25616964; DOI=10.1093/hmg/ddv025;
RA Kevany B.M., Zhang N., Jastrzebska B., Palczewski K.;
RT "Animals deficient in C2Orf71, an autosomal recessive retinitis pigmentosa-
RT associated locus, develop severe early-onset retinal degeneration.";
RL Hum. Mol. Genet. 24:2627-2640(2015).
CC -!- FUNCTION: Plays an essential role for normal photoreceptor cell
CC maintenance and vision. {ECO:0000269|PubMed:25616964}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium, photoreceptor outer
CC segment {ECO:0000269|PubMed:25616964}. Photoreceptor inner segment
CC {ECO:0000269|PubMed:25616964}.
CC -!- TISSUE SPECIFICITY: Specifically expressed in retina.
CC {ECO:0000269|PubMed:25616964}.
CC -!- DEVELOPMENTAL STAGE: Expressed in the developing eye at 14 dpc.
CC {ECO:0000269|PubMed:20398884}.
CC -!- DISRUPTION PHENOTYPE: Deficient mice develop severe early-onset retinal
CC degeneration associated with a disorganized outer segment, progressive
CC thinning of the outer nuclear layer, microglia activation and non-
CC responsive to light by 8 weeks of age. {ECO:0000269|PubMed:25616964}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH27072.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAC31912.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; BC027072; AAH27072.1; ALT_INIT; mRNA.
DR EMBL; BC046516; AAH46516.1; -; mRNA.
DR EMBL; BC060373; AAH60373.1; -; mRNA.
DR EMBL; AK044416; BAC31912.1; ALT_INIT; mRNA.
DR CCDS; CCDS28962.1; -.
DR RefSeq; NP_666194.2; NM_146082.3.
DR AlphaFoldDB; Q6PAC4; -.
DR BioGRID; 230348; 2.
DR STRING; 10090.ENSMUSP00000051871; -.
DR iPTMnet; Q6PAC4; -.
DR PhosphoSitePlus; Q6PAC4; -.
DR PaxDb; Q6PAC4; -.
DR PRIDE; Q6PAC4; -.
DR Antibodypedia; 62851; 37 antibodies from 12 providers.
DR Ensembl; ENSMUST00000057405; ENSMUSP00000051871; ENSMUSG00000044375.
DR GeneID; 225004; -.
DR KEGG; mmu:225004; -.
DR UCSC; uc008dmv.1; mouse.
DR CTD; 388939; -.
DR MGI; MGI:2385061; Pcare.
DR VEuPathDB; HostDB:ENSMUSG00000044375; -.
DR eggNOG; ENOG502QUWN; Eukaryota.
DR GeneTree; ENSGT00390000002768; -.
DR HOGENOM; CLU_007417_0_0_1; -.
DR InParanoid; Q6PAC4; -.
DR OMA; IMPPRFP; -.
DR OrthoDB; 268004at2759; -.
DR PhylomeDB; Q6PAC4; -.
DR TreeFam; TF336604; -.
DR BioGRID-ORCS; 225004; 2 hits in 71 CRISPR screens.
DR PRO; PR:Q6PAC4; -.
DR Proteomes; UP000000589; Chromosome 17.
DR RNAct; Q6PAC4; protein.
DR Bgee; ENSMUSG00000044375; Expressed in retinal neural layer and 8 other tissues.
DR Genevisible; Q6PAC4; MM.
DR GO; GO:0005929; C:cilium; ISO:MGI.
DR GO; GO:0120199; C:cone photoreceptor outer segment; IDA:MGI.
DR GO; GO:0001917; C:photoreceptor inner segment; IDA:MGI.
DR GO; GO:0001750; C:photoreceptor outer segment; IBA:GO_Central.
DR GO; GO:0050908; P:detection of light stimulus involved in visual perception; ISO:MGI.
DR GO; GO:0035845; P:photoreceptor cell outer segment organization; IMP:MGI.
DR GO; GO:1903546; P:protein localization to photoreceptor outer segment; IMP:MGI.
DR InterPro; IPR029352; PCARE.
DR PANTHER; PTHR22017; PTHR22017; 1.
DR Pfam; PF15449; Retinal; 1.
PE 2: Evidence at transcript level;
KW Cell projection; Cilium; Lipoprotein; Myristate; Palmitate;
KW Reference proteome; Sensory transduction; Vision.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0000255"
FT CHAIN 2..1279
FT /note="Photoreceptor cilium actin regulator"
FT /id="PRO_0000329079"
FT REGION 101..168
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 380..598
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 802..821
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 860..1107
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1127..1279
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 123..139
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 148..168
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 423..437
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 506..526
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 537..566
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 583..598
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 882..931
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 949..968
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 976..994
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 999..1026
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1027..1041
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1065..1092
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1151..1171
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1188..1242
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT LIPID 2
FT /note="N-myristoyl glycine"
FT /evidence="ECO:0000255"
FT LIPID 3
FT /note="S-palmitoyl cysteine"
FT /evidence="ECO:0000255"
FT CONFLICT 1030
FT /note="S -> G (in Ref. 2; BAC31912)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1279 AA; 139298 MW; 5DA777DD59E2A0EC CRC64;
MGCTPSHNVI VNSVAKSGIQ FFKKPKAILP GCQWGSPKCP IPLLVQSSTF CDSGGELHLG
ERLVEETVSS SKKLQAMAEG VRQLPKAMEG LIPESQTFQV NKPQGHRATD ISFRTEGSHG
TQEVDFSGKE SKENTPQETS KGNRESVCHQ PDSQDHCRQS ATESKGRVDF PEPLVKAHQH
AYAYLHTSLS RYEAIVRLVQ QASQTWGLLR PMLNFLLLCF EEAGQLLSEI SKDGDVLLQE
VRGDLAWPLR KGEPWEQHPD LLQQLLQYTV SKLRALHGTV AALTGSFLEG SSSCLRSTAG
HLEGKLSTKR GIDECLLRAL GQLESLTSSH GDAGLLGPPL CSEDSGIGAD NESVHSVEKL
GKQASWDFAA ELGEWKPGTA AQVEARPSGH AWQEGPYWTG SDRPQDCPLS SPRIAKVQPA
VQDEARSAST SGAGAEAVTS GPSEAAESLP WDSLGAEIPV RTPLSRSSGL TDAPSLSEEE
DCSPEEEDEL SSTDLHPEPQ KALPSRPRSS PDTRESLFQP YSKELRNPQA QEMILKMKEA
ISERIKFVPE PSRPQDWTEE EEGGTVVPPR PRSVSGSRGG PERQRRSQSE GCLKSHVEDP
TLQELRRVQT DLSRRLEVFY ALGATRQGQS RERCLPSRAS VLWPPTNCRV SPSSAISKFK
ASLTQNFSIL PNQDKSIFQK GSPCFDGEQP CQGKAEKLPN AIFCGKKSGR APRDNERDIR
ACPTRPSVKT LIETFSPTES LRMPRNCRNL GSSPCLRKWG VPAMPPRFPI YRGLAPLYSK
PQISPAAGWR PSAPFPSLPL AEVSESEDIS GDVEEDLENL PPPPLEVLMD KSFAALECPE
CSQPAGSSLE ETLLPGLQEA SHPKRTWVSP RLKASMSPMD LLPSKGSGSS PRLHSTRSGS
TRIVGDSRKL TLDLNSKQTA SPSSEAKSRA QIQARAETIA GFSKQHQKAI PWHHTNPTPG
QSRTLEPSLA RFSRDPHSSE ASRKGPERSL PRVRKASPQR AQWASQGDRR LQSLPSSHGP
SQPGLPAVLS SPSPPLSPRT LSPPATRKTT SPPCQHPQSN PAPGSPPVRR TETNTPSSAS
CSSPSVSPSR GSKDSIHSED SEATTAKASR NTCSIFYPAA TSLFEAKSSS STSHPQMLPE
PGGLLRTPTG GWRGSSGQRL RADSQKRTVL NALNPLPFVR RTASDRQRQQ GDQLQQSRSD
WEFHSCQNSS SSSSSEENPK QELPPWNNSR VPELQGSSTK RASPLELCVL GHGLQPEARM
NRGQDRPQPE SQPQHKEIS
