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Protein

Protein piccolo

Gene

PCLO

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May act as a scaffolding protein involved in the organization of synaptic active zones and in synaptic vesicle trafficking.By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri589 – 613C4-typeSequence analysisAdd BLAST25
Zinc fingeri1059 – 1082C4-typeSequence analysisAdd BLAST24

GO - Molecular functioni

GO - Biological processi

Keywordsi

LigandCalcium, Calcium/phospholipid-binding, Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Protein piccolo
Alternative name(s):
Aczonin
Gene namesi
Name:PCLOBy similarity
Synonyms:ACZImported, KIAA0559
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000186472.19
HGNCiHGNC:13406 PCLO
MIMi604918 gene
neXtProtiNX_Q9Y6V0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Synapse

Pathology & Biotechi

Involvement in diseasei

Pontocerebellar hypoplasia 3 (PCH3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum. Brain MRI shows an abnormally small cerebellum and brainstem, decreased cerebral white matter, and a thin corpus callosum. PCH3 features include seizures, short stature, optic atrophy, progressive microcephaly, severe developmental delay.
See also OMIM:608027

Keywords - Diseasei

Neurodegeneration

Organism-specific databases

DisGeNETi27445
MalaCardsiPCLO
MIMi608027 phenotype
OpenTargetsiENSG00000186472
PharmGKBiPA33072

Polymorphism and mutation databases

BioMutaiPCLO
DMDMi332278245

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000582501 – 5142Protein piccoloAdd BLAST5142

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei906PhosphoserineBy similarity1
Modified residuei918PhosphoserineBy similarity1
Modified residuei922PhosphothreonineBy similarity1
Modified residuei1356PhosphoserineBy similarity1
Modified residuei1366PhosphoserineBy similarity1
Modified residuei1367PhosphoserineBy similarity1
Modified residuei1396PhosphoserineBy similarity1
Modified residuei1398PhosphoserineBy similarity1
Modified residuei1401PhosphoserineBy similarity1
Modified residuei1402PhosphoserineBy similarity1
Modified residuei1405PhosphoserineBy similarity1
Modified residuei1516PhosphoserineBy similarity1
Modified residuei1517PhosphoserineBy similarity1
Modified residuei1519PhosphoserineBy similarity1
Modified residuei1522PhosphoserineBy similarity1
Modified residuei1546PhosphoserineBy similarity1
Modified residuei1549PhosphoserineBy similarity1
Modified residuei1570PhosphoserineBy similarity1
Modified residuei1572PhosphoserineBy similarity1
Modified residuei1617PhosphothreonineBy similarity1
Modified residuei1618PhosphoserineBy similarity1
Modified residuei1628PhosphoserineBy similarity1
Modified residuei1640PhosphoserineBy similarity1
Modified residuei1703PhosphoserineBy similarity1
Modified residuei1705PhosphothreonineBy similarity1
Modified residuei1707PhosphoserineBy similarity1
Modified residuei1712PhosphoserineBy similarity1
Modified residuei1773PhosphoserineBy similarity1
Modified residuei1774PhosphoserineBy similarity1
Modified residuei1825PhosphothreonineBy similarity1
Modified residuei1831PhosphoserineBy similarity1
Modified residuei1860PhosphoserineBy similarity1
Modified residuei1865PhosphoserineBy similarity1
Modified residuei1873PhosphoserineBy similarity1
Modified residuei1894PhosphoserineBy similarity1
Modified residuei2562PhosphoserineBy similarity1
Modified residuei3069PhosphothreonineBy similarity1
Modified residuei3443PhosphoserineBy similarity1
Modified residuei3447PhosphothreonineBy similarity1
Modified residuei3474PhosphothreonineBy similarity1
Modified residuei3577PhosphoserineBy similarity1
Modified residuei3585PhosphoserineBy similarity1
Modified residuei3615PhosphoserineBy similarity1
Modified residuei3619PhosphoserineBy similarity1
Modified residuei3625PhosphoserineBy similarity1
Modified residuei3628PhosphoserineBy similarity1
Modified residuei3631PhosphoserineBy similarity1
Modified residuei3652PhosphoserineBy similarity1
Modified residuei3678PhosphoserineBy similarity1
Modified residuei3680PhosphoserineBy similarity1
Modified residuei3686PhosphoserineBy similarity1
Modified residuei3835PhosphoserineBy similarity1
Modified residuei4088PhosphoserineBy similarity1
Modified residuei4204PhosphoserineBy similarity1
Modified residuei4358PhosphoserineBy similarity1
Modified residuei4362PhosphoserineBy similarity1
Modified residuei4365PhosphoserineBy similarity1
Modified residuei4394PhosphoserineBy similarity1
Modified residuei4430PhosphoserineBy similarity1
Modified residuei4664PhosphoserineBy similarity1
Modified residuei4778PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y6V0
PaxDbiQ9Y6V0
PeptideAtlasiQ9Y6V0
PRIDEiQ9Y6V0

PTM databases

iPTMnetiQ9Y6V0
PhosphoSitePlusiQ9Y6V0

Expressioni

Tissue specificityi

Moderately expressed in the developing cerebral cortex.1 Publication

Gene expression databases

BgeeiENSG00000186472
CleanExiHS_PCLO
ExpressionAtlasiQ9Y6V0 baseline and differential
GenevisibleiQ9Y6V0 HS

Organism-specific databases

HPAiHPA015858
HPA029579

Interactioni

Subunit structurei

Interacts with RABAC1/PRA1, RIMS2 and profilin.By similarity

GO - Molecular functioni

Protein-protein interaction databases

BioGridi118178, 6 interactors
ELMiQ9Y6V0
IntActiQ9Y6V0, 4 interactors
MINTiQ9Y6V0
STRINGi9606.ENSP00000334319

Structurei

Secondary structure

15142
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi4425 – 4430Combined sources6
Beta strandi4434 – 4437Combined sources4
Beta strandi4442 – 4446Combined sources5
Helixi4456 – 4463Combined sources8
Beta strandi4470 – 4477Combined sources8

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1UJDNMR-A4489-4592[»]
ProteinModelPortaliQ9Y6V0
SMRiQ9Y6V0
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9Y6V0

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini4496 – 4590PDZAdd BLAST95
Domaini4677 – 4807C2 1PROSITE-ProRule annotationAdd BLAST131
Domaini5011 – 5116C2 2PROSITE-ProRule annotationAdd BLAST106

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni397 – 55510 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-XAdd BLAST159

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi193 – 553Gln-richAdd BLAST361
Compositional biasi209 – 1029Pro-richAdd BLAST821
Compositional biasi2372 – 2533Pro-richAdd BLAST162
Compositional biasi2405 – 2430Poly-ProAdd BLAST26
Compositional biasi3210 – 3317Gln-richAdd BLAST108
Compositional biasi3861 – 3965Gln-richAdd BLAST105
Compositional biasi4284 – 4347Ser-richAdd BLAST64
Compositional biasi4837 – 4903Ser-richAdd BLAST67

Domaini

C2 domain 1 is involved in binding calcium and phospholipids. Calcium binds with low affinity but with high specificity and induces a large conformational change.By similarity

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri589 – 613C4-typeSequence analysisAdd BLAST25
Zinc fingeri1059 – 1082C4-typeSequence analysisAdd BLAST24

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG2060 Eukaryota
ENOG410ZNB1 LUCA
GeneTreeiENSGT00620000087961
HOVERGENiHBG074340
InParanoidiQ9Y6V0
KOiK16882
OMAiTQAPTPY
OrthoDBiEOG091G0RD2
TreeFamiTF326082

Family and domain databases

Gene3Di2.60.40.150, 2 hits
3.30.40.10, 2 hits
InterProiView protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR001478 PDZ
IPR036034 PDZ_sf
IPR030629 Piccolo
IPR011011 Znf_FYVE_PHD
IPR008899 Znf_piccolo
IPR013083 Znf_RING/FYVE/PHD
PANTHERiPTHR14113:SF6 PTHR14113:SF6, 2 hits
PfamiView protein in Pfam
PF00168 C2, 2 hits
PF00595 PDZ, 1 hit
PF05715 zf-piccolo, 2 hits
SMARTiView protein in SMART
SM00239 C2, 2 hits
SM00228 PDZ, 1 hit
SUPFAMiSSF50156 SSF50156, 1 hit
SSF57903 SSF57903, 2 hits
PROSITEiView protein in PROSITE
PS50004 C2, 2 hits

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.
Isoform 5 (identifier: Q9Y6V0-5) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGNEASLEGE GLPEGLAAAA AAGGGASGAG SPSHTAIPAG MEADLSQLSE
60 70 80 90 100
EERRQIAAVM SRAQGLPKGS VPPAAAESPS MHRKQELDSS HPPKQSGRPP
110 120 130 140 150
DPGRPAQPGL SKSRTTDTFR SEQKLPGRSP STISLKESKS RTDLKEEHKS
160 170 180 190 200
SMMPGFLSEV NALSAVSSVV NKFNPFDLIS DSEASQEETT KKQKVVQKEQ
210 220 230 240 250
GKPEGIIKPP LQQQPPKPIP KQQGPGRDPL QQDGTPKSIS SQQPEKIKSQ
260 270 280 290 300
PPGTGKPIQG PTQTPQTDHA KLPLQRDASR PQTKQADIVR GESVKPSLPS
310 320 330 340 350
PSKPPIQQPT PGKPPAQQPG HEKSQPGPAK PPAQPSGLTK PLAQQPGTVK
360 370 380 390 400
PPVQPPGTTK PPAQPLGPAK PPAQQTGSEK PSSEQPGPKA LAQPPGVGKT
410 420 430 440 450
PAQQPGPAKP PTQQVGTPKP LAQQPGLQSP AKAPGPTKTP VQQPGPGKIP
460 470 480 490 500
AQQAGPGKTS AQQTGPTKPP SQLPGPAKPP PQQPGPAKPP PQQPGSAKPP
510 520 530 540 550
SQQPGSTKPP PQQPGPAKPS PQQPGSTKPP SQQPGSAKPS AQQPSPAKPS
560 570 580 590 600
AQQSTKPVSQ TGSGKPLQPP TVSPSAKQPP SQGLPKTICP LCNTTELLLH
610 620 630 640 650
VPEKANFNTC TECQTTVCSL CGFNPNPHLT EVKEWLCLNC QMKRALGGDL
660 670 680 690 700
APVPSSPQPK LKTAPVTTTS AVSKSSPQPQ QTSPKKDAAP KQDLSKAPEP
710 720 730 740 750
KKPPPLVKQP TLHGSPSAKA KQPPEADSLS KPAPPKEPSV PSEQDKAPVA
760 770 780 790 800
DDKPKQPKMV KPTTDLVSSS SATTKPDIPS SKVQSQAEEK TTPPLKTDSA
810 820 830 840 850
KPSQSFPPTG EKVSPFDSKA IPRPASDSKI ISHPGPSSES KGQKQVDPVQ
860 870 880 890 900
KKEEPKKAQT KMSPKPDAKP MPKGSPTPPG PRPTAGQTVP TPQQSPKPQE
910 920 930 940 950
QSRRFSLNLG SITDAPKSQP TTPQETVTGK LFGFGASIFS QASNLISTAG
960 970 980 990 1000
QPGPHSQSGP GAPMKQAPAP SQPPTSQGPP KSTGQAPPAP AKSIPVKKET
1010 1020 1030 1040 1050
KAPAAEKLEP KAEQAPTVKR TETEKKPPPI KDSKSLTAEP QKAVLPTKLE
1060 1070 1080 1090 1100
KSPKPESTCP LCKTELNIGS KDPPNFNTCT ECKNQVCNLC GFNPTPHLTE
1110 1120 1130 1140 1150
IQEWLCLNCQ TQRAISGQLG DIRKMPPAPS GPKASPMPVP TESSSQKTAV
1160 1170 1180 1190 1200
PPQVKLVKKQ EQEVKTEAEK VILEKVKETL SMEKIPPMVT TDQKQEESKL
1210 1220 1230 1240 1250
EKDKASALQE KKPLPEEKKL IPEEEKIRSE EKKPLLEEKK PTPEDKKLLP
1260 1270 1280 1290 1300
EAKTSAPEEQ KHDLLKSQVQ IAEEKLEGRV APKTVQEGKQ PQTKMEGLPS
1310 1320 1330 1340 1350
GTPQSLPKED DKTTKTIKEQ PQPPCTAKPD QVEPGKEKTE KEDDKSDTSS
1360 1370 1380 1390 1400
SQQPKSPQGL SDTGYSSDGI SSSLGEIPSL IPTDEKDILK GLKKDSFSQE
1410 1420 1430 1440 1450
SSPSSPSDLA KLESTVLSIL EAQASTLADE KSEKKTQPHE VSPEQPKDQE
1460 1470 1480 1490 1500
KTQSLSETLE ITISEEEIKE SQEERKDTFK KDSQQDIPSS KDHKEKSEFV
1510 1520 1530 1540 1550
DDITTRREPY DSVEESSESE NSPVPQRKRR TSVGSSSSDE YKQEDSQGSG
1560 1570 1580 1590 1600
EEEDFIRKQI IEMSADEDAS GSEDDEFIRN QLKEISSSTE SQKKEETKGK
1610 1620 1630 1640 1650
GKITAGKHRR LTRKSSTSID EDAGRRHSWH DEDDEAFDES PELKYRETKS
1660 1670 1680 1690 1700
QESEELVVTG GGGLRRFKTI ELNSTIADKY SAESSQKKTS LYFDEEPELE
1710 1720 1730 1740 1750
MESLTDSPED RSRGEGSSSL HASSFTPGTS PTSVSSLDED SDSSPSHKKG
1760 1770 1780 1790 1800
ESKQQRKARH RPHGPLLPTI EDSSEEEELR EEEELLKEQE KQREIEQQQR
1810 1820 1830 1840 1850
KSSSKKSKKD KDELRAQRRR ERPKTPPSNL SPIEDASPTE ELRQAAEMEE
1860 1870 1880 1890 1900
LHRSSCSEYS PSIESDPEGF EISPEKIIEV QKVYKLPTAV SLYSPTDEQS
1910 1920 1930 1940 1950
IMQKEGSQKA LKSAEEMYEE MMHKTHKYKA FPAANERDEV FEKEPLYGGM
1960 1970 1980 1990 2000
LIEDYIYESL VEDTYNGSVD GSLLTRQEEE NGFMQQKGRE QKIRLSEQIY
2010 2020 2030 2040 2050
EDPMQKITDL QKEFYELESL HSVVPQEDIV SSSFIIPESH EIVDLGTMVT
2060 2070 2080 2090 2100
STEEERKLLD ADAAYEELMK RQQMQLTPGS SPTQAPIGED MTESTMDFDR
2110 2120 2130 2140 2150
MPDASLTSSV LSGASLTDST SSATLSIPDV KITQHFSTEE IEDEYVTDYT
2160 2170 2180 2190 2200
REIQEIIAHE SLILTYSEPS ESATSVPPSD TPSLTSSVSS VCTTDSSSPI
2210 2220 2230 2240 2250
TTLDSITTVY TEPVDMITKF EDSEEISSST YFPGSIIDYP EEISVSLDRT
2260 2270 2280 2290 2300
APPDGRASAD HIVISLSDMA SSIIESVVPK PEGPVADTVS TDLLISEKDP
2310 2320 2330 2340 2350
VKKAKKETGN GIILEVLEAY RDKKELEAER TKSSLSETVF DHPPSSVIAL
2360 2370 2380 2390 2400
PMKEQLSTTY FTSGETFGQE KPASQLPSGS PSVSSLPAKP RPFFRSSSLD
2410 2420 2430 2440 2450
ISAQPPPPPP PPPPPPPPPP PPPPPPLPPP TSPKPTILPK KKLTVASPVT
2460 2470 2480 2490 2500
TATPLFDAVT TLETTAVLRS NGLPVTRICT TAPPPVPPKP SSIPSGLVFT
2510 2520 2530 2540 2550
HRPEPSKPPI APKPVIPQLP TTTQKPTDIH PKPTGLSLTS SMTLNLVTSA
2560 2570 2580 2590 2600
DYKLPSPTSP LSPHSNKSSP RFSKSLTETY VVITLPSEPG TPTDSSASQA
2610 2620 2630 2640 2650
ITSWPLGSPS KDLVSVEPVF SVVPPVTAVE IPISSEQTFY ISGALQTFSA
2660 2670 2680 2690 2700
TPVTAPSSFQ AAPTSVTQFL TTEVSKTEVS ATRSTAPSVG LSSISITIPP
2710 2720 2730 2740 2750
EPLALDNIHL EKPQYKEDGK LQLVGDVIDL RTVPKVEVKT TDKCIDLSAS
2760 2770 2780 2790 2800
TMDVKRQITA NEVYGKQISA VQPSIINLSV TSSIVTPVSL ATETVTFVTC
2810 2820 2830 2840 2850
TASASYTTGT ESLVGAEHAM TTPLQLTTSK HAEPPYRIPS DQVFPIAREE
2860 2870 2880 2890 2900
APINLSLGTP AHAVTLAITK PVTVPPVGVT NGWTDSTVSQ GITDGEVVDL
2910 2920 2930 2940 2950
STTKSHRTVV TMDESTSSVM TKIIEDEKPV DLTAGRRAVC CDVVYKLPFG
2960 2970 2980 2990 3000
RSCTAQQPAT TLPEDRFGYR DDHYQYDRSG PYGYRGIGGM KPSMSDTNLA
3010 3020 3030 3040 3050
EAGHFFYKSK NAFDYSEGTD TAVDLTSGRV TTGEVMDYSS KTTGPYPETR
3060 3070 3080 3090 3100
QVISGAGIST PQYSTARMTP PPGPQYCVGS VLRSSNGVVY SSVATPTPST
3110 3120 3130 3140 3150
FAITTQPGSI FSTTVRDLSG IHTADAVTSL PAMHHSQPMP RSYFITTGAS
3160 3170 3180 3190 3200
ETDIAVTGID ISASLQTITM ESLTAETIDS VPTLTTASEV FPEVVGDESA
3210 3220 3230 3240 3250
LLIVPEEDKQ QQQLDLEREL LELEKIKQQR FAEELEWERQ EIQRFREQEK
3260 3270 3280 3290 3300
IMVQKKLEEL QSMKQHLLFQ QEEERQAQFM MRQETLAQQQ LQLEQIQQLQ
3310 3320 3330 3340 3350
QQLHQQLEEQ KIRQIYQYNY DPSGTASPQT TTEQAILEGQ YAALEGSQFW
3360 3370 3380 3390 3400
ATEDATTTAS AVVAIEIPQS QGWYTVQSDG VTQYIAPPGI LSTVSEIPLT
3410 3420 3430 3440 3450
DVVVKEEKQP KKRSSGAKVR GQYDDMGENM TDDPRSFKKI VDSGVQTDDE
3460 3470 3480 3490 3500
DATDRSYVSR RRRTKKSVDT SVQTDDEDQD EWDMPTRSRR KARVGKYGDS
3510 3520 3530 3540 3550
MTEADKTKPL SKVSSIAVQT VAEISVQTEP VGTIRTPSIR ARVDAKVEII
3560 3570 3580 3590 3600
KHISAPEKTY KGGSLGCQTE ADSDTQSPQY LSATSPPKDK KRPTPLEIGY
3610 3620 3630 3640 3650
SSHLRADSTV QLAPSPPKSP KVLYSPISPL SPGKALESAF VPYEKPLPDD
3660 3670 3680 3690 3700
ISPQKVLHPD MAKVPPASPK TAKMMQRSMS DPKPLSPTAD ESSRAPFQYT
3710 3720 3730 3740 3750
EGYTTKGSQT MTSSGAQKKV KRTLPNPPPE EISTGTQSTF STMGTVSRRR
3760 3770 3780 3790 3800
ICRTNTMARA KILQDIDREL DLVERESAKL RKKQAELDEE EKEIDAKLRY
3810 3820 3830 3840 3850
LEMGINRRKE ALLKEREKRE RAYLQGVAED RDYMSDSEVS STRPTRIESQ
3860 3870 3880 3890 3900
HGIERPRTAP QTEFSQFIPP QTQTESQLVP PTSPYTQYQY SSPALPTQAP
3910 3920 3930 3940 3950
TSYTQQSHFE QQTLYHQQVS PYQTQPTFQA VATMSFTPQV QPTPTPQPSY
3960 3970 3980 3990 4000
QLPSQMMVIQ QKPRQTTLYL EPKITSNYEV IRNQPLMIAP VSTDNTFAVS
4010 4020 4030 4040 4050
HLGSKYNSLD LRIGLEERSS MASSPISSIS ADSFYADIDH HTPRNYVLID
4060 4070 4080 4090 4100
DIGEITKGTA ALSTAFSLHE KDLSKTDRLL RTTETRRSQE VTDFLAPLQS
4110 4120 4130 4140 4150
SSRLHSYVKA EEDPMEDPYE LKLLKHQIKQ EFRRGTESLD HLAGLSHYYH
4160 4170 4180 4190 4200
ADTSYRHFPK SEKYSISRLT LEKQAAKQLP AAILYQKQSK HKKSLIDPKM
4210 4220 4230 4240 4250
SKFSPIQESR DLEPDYSSYM TSSTSSIGGI SSRARLLQDD ITFGLRKNIT
4260 4270 4280 4290 4300
DQQKFMGSSL GTGLGTLGNT IRSALQDEAD KPYSSGSRSR PSSRPSSVYG
4310 4320 4330 4340 4350
LDLSIKRDSS SSSLRLKAQE AEALDVSFSH ASSSARTKPT SLPISQSRGR
4360 4370 4380 4390 4400
IPIVAQNSEE ESPLSPVGQP MGMARAAAGP LPPISADTRD QFGSSHSLPE
4410 4420 4430 4440 4450
VQQHMREESR TRGYDRDIAF IMDDFQHAMS DSEAYHLRRE ETDWFDKPRE
4460 4470 4480 4490 4500
SRLENGHGLD RKLPERLVHS RPLSQHQEQI IQMNGKTMHY IFPHARIKIT
4510 4520 4530 4540 4550
RDSKDHTVSG NGLGIRIVGG KEIPGHSGEI GAYIAKILPG GSAEQTGKLM
4560 4570 4580 4590 4600
EGMQVLEWNG IPLTSKTYEE VQSIISQQSG EAEICVRLDL NMLSDSENSQ
4610 4620 4630 4640 4650
HLELHEPPKA VDKAKSPGVD PKQLAAELQK VSLQQSPLVL SSVVEKGSHV
4660 4670 4680 4690 4700
HSGPTSAGSS SVPSPGQPGS PSVSKKKHGS SKPTDGTKVV SHPITGEIQL
4710 4720 4730 4740 4750
QINYDLGNLI IHILQARNLV PRDNNGYSDP FVKVYLLPGR GQVMVVQNAS
4760 4770 4780 4790 4800
AEYKRRTKHV QKSLNPEWNQ TVIYKSISME QLKKKTLEVT VWDYDRFSSN
4810 4820 4830 4840 4850
DFLGEVLIDL SSTSHLDNTP RWYPLKEQTE SIDHGKSHSS QSSQQSPKPS
4860 4870 4880 4890 4900
VIKSRSHGIF PDPSKDMQVP TIEKSHSSPG SSKSSSEGHL RSHGPSRSQS
4910 4920 4930 4940 4950
KTSVTQTHLE DAGAAIAAAE AAVQQLRIQP TKPPNHRPAE SSVSTGSSGS
4960 4970 4980 4990 5000
SFGSGYSVDS EGSSSTAGET NLFPIPRIGK MGQNGQEPVK QPGVGVGLAD
5010 5020 5030 5040 5050
TEAKTQVMGE IKIALKKEMK TDGEQLIVEI LQCRNITYKF KSPDHLPDLY
5060 5070 5080 5090 5100
VKIYVMNIST QKKVIKKKTR VCRHDREPSF NETFRFSLSP AGHSLQILLF
5110 5120 5130 5140
SNGGKFMKKT LIGEACIWLD KVDLRKRIVN WHKLLVSPTQ TH
Length:5,142
Mass (Da):560,699
Last modified:March 28, 2018 - v5
Checksum:i18F145349952C935
GO
Isoform 3 (identifier: Q9Y6V0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-4570: Missing.
     4571-4588: VQSIISQQSGEAEICVRL → MKKFRVSLVSKVGKQKYV
     4742-4750: Missing.
     4931-4935: TKPPN → SKRRK
     4936-5142: Missing.

Show »
Length:356
Mass (Da):39,047
Checksum:iB515BD682ECC0154
GO
Isoform 6 (identifier: Q9Y6V0-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     4931-4935: TKPPN → SKRRK
     4936-5142: Missing.

Show »
Length:4,935
Mass (Da):537,886
Checksum:iE9D027F9FB9879F2
GO

Sequence cautioni

The sequence AAB97937 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence AAD21789 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence EAL24187 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti441V → A in CAB60727 (PubMed:10508862).Curated1
Sequence conflicti443 – 496Missing in CAB60727 (PubMed:10508862).CuratedAdd BLAST54
Sequence conflicti497A → T in CAB60727 (PubMed:10508862).Curated1
Sequence conflicti501S → P in AAI22566 (PubMed:15489334).Curated1
Sequence conflicti554S → F in CAB60727 (PubMed:10508862).Curated1
Sequence conflicti563S → F in CAB60727 (PubMed:10508862).Curated1
Sequence conflicti632V → A in CAB60727 (PubMed:10508862).Curated1
Sequence conflicti814S → T in CAB60727 (PubMed:10508862).Curated1
Sequence conflicti4814S → A in AAH01304 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0569592671T → P. Corresponds to variant dbSNP:rs10261848Ensembl.1
Natural variantiVAR_0569602804A → T. Corresponds to variant dbSNP:rs976714Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0594611 – 4570Missing in isoform 3. 1 PublicationAdd BLAST4570
Alternative sequenceiVSP_0594624571 – 4588VQSII…ICVRL → MKKFRVSLVSKVGKQKYV in isoform 3. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_0594634742 – 4750Missing in isoform 3. 1 Publication9
Alternative sequenceiVSP_0594644931 – 4935TKPPN → SKRRK in isoform 3 and isoform 6. 1 Publication5
Alternative sequenceiVSP_0594654936 – 5142Missing in isoform 3 and isoform 6. 1 PublicationAdd BLAST207

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC004006 Genomic DNA No translation available.
AC004082 Genomic DNA Translation: AAB97937.1 Sequence problems.
AC080093 Genomic DNA No translation available.
AC004886 Genomic DNA Translation: AAD21789.2 Sequence problems.
AC004903 Genomic DNA No translation available.
AC093461 Genomic DNA No translation available.
CH236949 Genomic DNA Translation: EAL24187.1 Sequence problems.
BC001304 mRNA Translation: AAH01304.2
BC122565 mRNA Translation: AAI22566.1
BC125271 mRNA Translation: AAI25272.1
Y19188 mRNA Translation: CAB60727.1
AB011131 mRNA Translation: BAA25485.1
CCDSiCCDS47630.1 [Q9Y6V0-5]
CCDS47631.1 [Q9Y6V0-6]
PIRiT00332
T00634
RefSeqiNP_055325.2, NM_014510.2 [Q9Y6V0-6]
NP_149015.2, NM_033026.5 [Q9Y6V0-5]
UniGeneiHs.12376

Genome annotation databases

EnsembliENST00000333891; ENSP00000334319; ENSG00000186472 [Q9Y6V0-5]
ENST00000423517; ENSP00000388393; ENSG00000186472 [Q9Y6V0-6]
ENST00000618073; ENSP00000482390; ENSG00000186472 [Q9Y6V0-3]
GeneIDi27445
KEGGihsa:27445
UCSCiuc003uhv.3 human [Q9Y6V0-5]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPCLO_HUMAN
AccessioniPrimary (citable) accession number: Q9Y6V0
Secondary accession number(s): A4D1A7
, A6NNX9, O43373, O60305, Q08E72, Q9BVC8, Q9UIV2, Q9Y6U9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 19, 2002
Last sequence update: March 28, 2018
Last modified: May 23, 2018
This is version 172 of the entry and version 5 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

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