PCLO

Protein identityUniProt · HPA

UniProt accession

Q9Y6V0

Gene

PCLO

Ensembl

ENSG00000186472

Chromosome

7

Canonical length

5142 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Nuclear speckles,Plasma membrane

OverviewNCBI Gene

The protein encoded by this gene is part of the presynaptic cytoskeletal matrix, which is involved in establishing active synaptic zones and in synaptic vesicle trafficking. Variations in this gene have been associated with bipolar disorder and major depressive disorder. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

Canonical amino-acid sequenceUniProt

5142 residues, UniProt reviewed canonical sequence.

>Q9Y6V0|PCLO
     1  MGNEASLEGE GLPEGLAAAA AAGGGASGAG SPSHTAIPAG MEADLSQLSE EERRQIAAVM
    61  SRAQGLPKGS VPPAAAESPS MHRKQELDSS HPPKQSGRPP DPGRPAQPGL SKSRTTDTFR
   121  SEQKLPGRSP STISLKESKS RTDLKEEHKS SMMPGFLSEV NALSAVSSVV NKFNPFDLIS
   181  DSEASQEETT KKQKVVQKEQ GKPEGIIKPP LQQQPPKPIP KQQGPGRDPL QQDGTPKSIS
   241  SQQPEKIKSQ PPGTGKPIQG PTQTPQTDHA KLPLQRDASR PQTKQADIVR GESVKPSLPS
   301  PSKPPIQQPT PGKPPAQQPG HEKSQPGPAK PPAQPSGLTK PLAQQPGTVK PPVQPPGTTK
   361  PPAQPLGPAK PPAQQTGSEK PSSEQPGPKA LAQPPGVGKT PAQQPGPAKP PTQQVGTPKP
   421  LAQQPGLQSP AKAPGPTKTP VQQPGPGKIP AQQAGPGKTS AQQTGPTKPP SQLPGPAKPP
   481  PQQPGPAKPP PQQPGSAKPP SQQPGSTKPP PQQPGPAKPS PQQPGSTKPP SQQPGSAKPS
   541  AQQPSPAKPS AQQSTKPVSQ TGSGKPLQPP TVSPSAKQPP SQGLPKTICP LCNTTELLLH
   601  VPEKANFNTC TECQTTVCSL CGFNPNPHLT EVKEWLCLNC QMKRALGGDL APVPSSPQPK
   661  LKTAPVTTTS AVSKSSPQPQ QTSPKKDAAP KQDLSKAPEP KKPPPLVKQP TLHGSPSAKA
   721  KQPPEADSLS KPAPPKEPSV PSEQDKAPVA DDKPKQPKMV KPTTDLVSSS SATTKPDIPS
   781  SKVQSQAEEK TTPPLKTDSA KPSQSFPPTG EKVSPFDSKA IPRPASDSKI ISHPGPSSES
   841  KGQKQVDPVQ KKEEPKKAQT KMSPKPDAKP MPKGSPTPPG PRPTAGQTVP TPQQSPKPQE
   901  QSRRFSLNLG SITDAPKSQP TTPQETVTGK LFGFGASIFS QASNLISTAG QPGPHSQSGP
   961  GAPMKQAPAP SQPPTSQGPP KSTGQAPPAP AKSIPVKKET KAPAAEKLEP KAEQAPTVKR
  1021  TETEKKPPPI KDSKSLTAEP QKAVLPTKLE KSPKPESTCP LCKTELNIGS KDPPNFNTCT
  1081  ECKNQVCNLC GFNPTPHLTE IQEWLCLNCQ TQRAISGQLG DIRKMPPAPS GPKASPMPVP
  1141  TESSSQKTAV PPQVKLVKKQ EQEVKTEAEK VILEKVKETL SMEKIPPMVT TDQKQEESKL
  1201  EKDKASALQE KKPLPEEKKL IPEEEKIRSE EKKPLLEEKK PTPEDKKLLP EAKTSAPEEQ
  1261  KHDLLKSQVQ IAEEKLEGRV APKTVQEGKQ PQTKMEGLPS GTPQSLPKED DKTTKTIKEQ
  1321  PQPPCTAKPD QVEPGKEKTE KEDDKSDTSS SQQPKSPQGL SDTGYSSDGI SSSLGEIPSL
  1381  IPTDEKDILK GLKKDSFSQE SSPSSPSDLA KLESTVLSIL EAQASTLADE KSEKKTQPHE
  1441  VSPEQPKDQE KTQSLSETLE ITISEEEIKE SQEERKDTFK KDSQQDIPSS KDHKEKSEFV
  1501  DDITTRREPY DSVEESSESE NSPVPQRKRR TSVGSSSSDE YKQEDSQGSG EEEDFIRKQI
  1561  IEMSADEDAS GSEDDEFIRN QLKEISSSTE SQKKEETKGK GKITAGKHRR LTRKSSTSID
  1621  EDAGRRHSWH DEDDEAFDES PELKYRETKS QESEELVVTG GGGLRRFKTI ELNSTIADKY
  1681  SAESSQKKTS LYFDEEPELE MESLTDSPED RSRGEGSSSL HASSFTPGTS PTSVSSLDED
  1741  SDSSPSHKKG ESKQQRKARH RPHGPLLPTI EDSSEEEELR EEEELLKEQE KQREIEQQQR
  1801  KSSSKKSKKD KDELRAQRRR ERPKTPPSNL SPIEDASPTE ELRQAAEMEE LHRSSCSEYS
  1861  PSIESDPEGF EISPEKIIEV QKVYKLPTAV SLYSPTDEQS IMQKEGSQKA LKSAEEMYEE
  1921  MMHKTHKYKA FPAANERDEV FEKEPLYGGM LIEDYIYESL VEDTYNGSVD GSLLTRQEEE
  1981  NGFMQQKGRE QKIRLSEQIY EDPMQKITDL QKEFYELESL HSVVPQEDIV SSSFIIPESH
  2041  EIVDLGTMVT STEEERKLLD ADAAYEELMK RQQMQLTPGS SPTQAPIGED MTESTMDFDR
  2101  MPDASLTSSV LSGASLTDST SSATLSIPDV KITQHFSTEE IEDEYVTDYT REIQEIIAHE
  2161  SLILTYSEPS ESATSVPPSD TPSLTSSVSS VCTTDSSSPI TTLDSITTVY TEPVDMITKF
  2221  EDSEEISSST YFPGSIIDYP EEISVSLDRT APPDGRASAD HIVISLSDMA SSIIESVVPK
  2281  PEGPVADTVS TDLLISEKDP VKKAKKETGN GIILEVLEAY RDKKELEAER TKSSLSETVF
  2341  DHPPSSVIAL PMKEQLSTTY FTSGETFGQE KPASQLPSGS PSVSSLPAKP RPFFRSSSLD
  2401  ISAQPPPPPP PPPPPPPPPP PPPPPPLPPP TSPKPTILPK KKLTVASPVT TATPLFDAVT
  2461  TLETTAVLRS NGLPVTRICT TAPPPVPPKP SSIPSGLVFT HRPEPSKPPI APKPVIPQLP
  2521  TTTQKPTDIH PKPTGLSLTS SMTLNLVTSA DYKLPSPTSP LSPHSNKSSP RFSKSLTETY
  2581  VVITLPSEPG TPTDSSASQA ITSWPLGSPS KDLVSVEPVF SVVPPVTAVE IPISSEQTFY
  2641  ISGALQTFSA TPVTAPSSFQ AAPTSVTQFL TTEVSKTEVS ATRSTAPSVG LSSISITIPP
  2701  EPLALDNIHL EKPQYKEDGK LQLVGDVIDL RTVPKVEVKT TDKCIDLSAS TMDVKRQITA
  2761  NEVYGKQISA VQPSIINLSV TSSIVTPVSL ATETVTFVTC TASASYTTGT ESLVGAEHAM
  2821  TTPLQLTTSK HAEPPYRIPS DQVFPIAREE APINLSLGTP AHAVTLAITK PVTVPPVGVT
  2881  NGWTDSTVSQ GITDGEVVDL STTKSHRTVV TMDESTSSVM TKIIEDEKPV DLTAGRRAVC
  2941  CDVVYKLPFG RSCTAQQPAT TLPEDRFGYR DDHYQYDRSG PYGYRGIGGM KPSMSDTNLA
  3001  EAGHFFYKSK NAFDYSEGTD TAVDLTSGRV TTGEVMDYSS KTTGPYPETR QVISGAGIST
  3061  PQYSTARMTP PPGPQYCVGS VLRSSNGVVY SSVATPTPST FAITTQPGSI FSTTVRDLSG
  3121  IHTADAVTSL PAMHHSQPMP RSYFITTGAS ETDIAVTGID ISASLQTITM ESLTAETIDS
  3181  VPTLTTASEV FPEVVGDESA LLIVPEEDKQ QQQLDLEREL LELEKIKQQR FAEELEWERQ
  3241  EIQRFREQEK IMVQKKLEEL QSMKQHLLFQ QEEERQAQFM MRQETLAQQQ LQLEQIQQLQ
  3301  QQLHQQLEEQ KIRQIYQYNY DPSGTASPQT TTEQAILEGQ YAALEGSQFW ATEDATTTAS
  3361  AVVAIEIPQS QGWYTVQSDG VTQYIAPPGI LSTVSEIPLT DVVVKEEKQP KKRSSGAKVR
  3421  GQYDDMGENM TDDPRSFKKI VDSGVQTDDE DATDRSYVSR RRRTKKSVDT SVQTDDEDQD
  3481  EWDMPTRSRR KARVGKYGDS MTEADKTKPL SKVSSIAVQT VAEISVQTEP VGTIRTPSIR
  3541  ARVDAKVEII KHISAPEKTY KGGSLGCQTE ADSDTQSPQY LSATSPPKDK KRPTPLEIGY
  3601  SSHLRADSTV QLAPSPPKSP KVLYSPISPL SPGKALESAF VPYEKPLPDD ISPQKVLHPD
  3661  MAKVPPASPK TAKMMQRSMS DPKPLSPTAD ESSRAPFQYT EGYTTKGSQT MTSSGAQKKV
  3721  KRTLPNPPPE EISTGTQSTF STMGTVSRRR ICRTNTMARA KILQDIDREL DLVERESAKL
  3781  RKKQAELDEE EKEIDAKLRY LEMGINRRKE ALLKEREKRE RAYLQGVAED RDYMSDSEVS
  3841  STRPTRIESQ HGIERPRTAP QTEFSQFIPP QTQTESQLVP PTSPYTQYQY SSPALPTQAP
  3901  TSYTQQSHFE QQTLYHQQVS PYQTQPTFQA VATMSFTPQV QPTPTPQPSY QLPSQMMVIQ
  3961  QKPRQTTLYL EPKITSNYEV IRNQPLMIAP VSTDNTFAVS HLGSKYNSLD LRIGLEERSS
  4021  MASSPISSIS ADSFYADIDH HTPRNYVLID DIGEITKGTA ALSTAFSLHE KDLSKTDRLL
  4081  RTTETRRSQE VTDFLAPLQS SSRLHSYVKA EEDPMEDPYE LKLLKHQIKQ EFRRGTESLD
  4141  HLAGLSHYYH ADTSYRHFPK SEKYSISRLT LEKQAAKQLP AAILYQKQSK HKKSLIDPKM
  4201  SKFSPIQESR DLEPDYSSYM TSSTSSIGGI SSRARLLQDD ITFGLRKNIT DQQKFMGSSL
  4261  GTGLGTLGNT IRSALQDEAD KPYSSGSRSR PSSRPSSVYG LDLSIKRDSS SSSLRLKAQE
  4321  AEALDVSFSH ASSSARTKPT SLPISQSRGR IPIVAQNSEE ESPLSPVGQP MGMARAAAGP
  4381  LPPISADTRD QFGSSHSLPE VQQHMREESR TRGYDRDIAF IMDDFQHAMS DSEAYHLRRE
  4441  ETDWFDKPRE SRLENGHGLD RKLPERLVHS RPLSQHQEQI IQMNGKTMHY IFPHARIKIT
  4501  RDSKDHTVSG NGLGIRIVGG KEIPGHSGEI GAYIAKILPG GSAEQTGKLM EGMQVLEWNG
  4561  IPLTSKTYEE VQSIISQQSG EAEICVRLDL NMLSDSENSQ HLELHEPPKA VDKAKSPGVD
  4621  PKQLAAELQK VSLQQSPLVL SSVVEKGSHV HSGPTSAGSS SVPSPGQPGS PSVSKKKHGS
  4681  SKPTDGTKVV SHPITGEIQL QINYDLGNLI IHILQARNLV PRDNNGYSDP FVKVYLLPGR
  4741  GQVMVVQNAS AEYKRRTKHV QKSLNPEWNQ TVIYKSISME QLKKKTLEVT VWDYDRFSSN
  4801  DFLGEVLIDL SSTSHLDNTP RWYPLKEQTE SIDHGKSHSS QSSQQSPKPS VIKSRSHGIF
  4861  PDPSKDMQVP TIEKSHSSPG SSKSSSEGHL RSHGPSRSQS KTSVTQTHLE DAGAAIAAAE
  4921  AAVQQLRIQP TKPPNHRPAE SSVSTGSSGS SFGSGYSVDS EGSSSTAGET NLFPIPRIGK
  4981  MGQNGQEPVK QPGVGVGLAD TEAKTQVMGE IKIALKKEMK TDGEQLIVEI LQCRNITYKF
  5041  KSPDHLPDLY VKIYVMNIST QKKVIKKKTR VCRHDREPSF NETFRFSLSP AGHSLQILLF
  5101  SNGGKFMKKT LIGEACIWLD KVDLRKRIVN WHKLLVSPTQ TH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PCLO can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0

Highest tissue expression

21 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PCLO.

Disease | AllUniProt

Conditions PCLO is implicated in, by any mechanism.

• Pontocerebellar hypoplasia 3 (PCH3) MIM:608027

Disease | GeneticClinVar

73 pathogenic / likely-pathogenic of 3,365 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Pontocerebellar hypoplasia type 3
• PCLO-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.12

gnomAD pLI

1

gnomAD missense Z

-1.46

DepMap mean gene effect

0.11

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cytoskeleton organization
• insulin secretion
• presynaptic actin cytoskeleton organization
• presynaptic active zone assembly
• protein localization to synapse
• regulation of exocytosis
• synaptic vesicle clustering
• synaptic vesicle exocytosis

Molecular functions

• calcium ion binding
• calcium-dependent phospholipid binding
• profilin binding
• structural constituent of presynaptic active zone
• zinc ion binding

Cellular components

• axon
• cytoskeleton
• cytoskeleton of presynaptic active zone
• extracellular exosome
• GABA-ergic synapse
• glutamatergic synapse
• postsynaptic density
• synapse

Protein domainsUniProt · Pfam · InterPro

• C2 domain
• PDZ domain
• Zinc finger, piccolo-type
• Zinc finger, FYVE/PHD-type
• Zinc finger, RING/FYVE/PHD-type
• C2 domain superfamily
• PDZ superfamily
• Presynaptic Scaffold Protein Bassoon/Piccolo
• C2 domain
• PDZ domain
• Piccolo Zn-finger
• Piccolo, FYVE-related domain 1

KeywordsUniProt

• Calcium
• Calcium/phospholipid-binding
• Cell projection
• Metal-binding
• Neurodegeneration
• Phosphoprotein
• Repeat
• Synapse
• Zinc
• Zinc-finger

InteractionsUniProt · HPA

Protein binding partners of PCLO in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• BSN
• CTBP1
• GIT1
• GIT2
• RIMS1
• SIAH1
• UNC13A