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UniProtKB - O95613 (PCNT_HUMAN)

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Protein

Pericentrin

Gene

PCNT

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

Functioni

Integral component of the filamentous matrix of the centrosome involved in the initial establishment of organized microtubule arrays in both mitosis and meiosis. Plays a role, together with DISC1, in the microtubule network formation. Is an integral component of the pericentriolar material (PCM). May play an important role in preventing premature centrosome splitting during interphase by inhibiting NEK2 kinase activity at the centrosome.4 Publications

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • ciliary basal body-plasma membrane docking Source: Reactome
  • cilium assembly Source: MGI
  • G2/M transition of mitotic cell cycle Source: Reactome
  • microtubule cytoskeleton organization Source: UniProtKB
  • mitotic spindle organization Source: GO_Central
  • positive regulation of intracellular protein transport Source: UniProtKB
  • regulation of G2/M transition of mitotic cell cycle Source: Reactome
  • signal transduction Source: InterPro
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionCalmodulin-binding

Enzyme and pathway databases

ReactomeiR-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-380259 Loss of Nlp from mitotic centrosomes
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-8854518 AURKA Activation by TPX2
SIGNORiO95613

Names & Taxonomyi

Protein namesi
Recommended name:
Pericentrin
Alternative name(s):
Kendrin
Pericentrin-B
Gene namesi
Name:PCNT
Synonyms:KIAA0402, PCNT2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

EuPathDBiHostDB:ENSG00000160299.16
HGNCiHGNC:16068 PCNT
MIMi605925 gene
neXtProtiNX_O95613

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

Cytoplasm, Cytoskeleton, Microtubule

Pathology & Biotechi

Involvement in diseasei

Microcephalic osteodysplastic primordial dwarfism 2 (MOPD2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAdults with this rare inherited condition have an average height of 100 centimeters and a brain size comparable to that of a 3-month-old baby, but are of near-normal intelligence.
See also OMIM:210720

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi2231R → A: Produces non-cleavable protein which remains on centrosomes in late mitosis until its levels eventually drop in cells undergoing cytokinesis. 2 Publications1
Mutagenesisi2232K → M: Stabilizes the C-terminal fragment produced by cleavage. 1 Publication1
Mutagenesisi3196 – 3197FR → AA: Decrease in calmodulin binding. 1 Publication2
Mutagenesisi3203V → A: Decrease in calmodulin binding. 1 Publication1
Mutagenesisi3208 – 3209RL → AA: Decrease in calmodulin binding. 1 Publication2

Keywords - Diseasei

Dwarfism

Organism-specific databases

DisGeNETi5116
MalaCardsiPCNT
MIMi210720 phenotype
OpenTargetsiENSG00000160299
Orphaneti2637 Microcephalic osteodysplastic primordial dwarfism type II
808 Seckel syndrome
PharmGKBiPA33079

Polymorphism and mutation databases

BioMutaiPCNT

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000582571 – 3336PericentrinAdd BLAST3336

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei44PhosphoserineCombined sources1
Modified residuei188PhosphoserineCombined sources1
Modified residuei191PhosphothreonineCombined sources1
Modified residuei610PhosphoserineCombined sources1
Modified residuei682PhosphoserineCombined sources1
Modified residuei1245PhosphoserineCombined sources1
Modified residuei1653PhosphoserineCombined sources1
Modified residuei1712PhosphoserineBy similarity1
Modified residuei2044PhosphoserineCombined sources1
Modified residuei2177PhosphoserineCombined sources1
Modified residuei2192PhosphoserineCombined sources1
Modified residuei2225PhosphoserineBy similarity1
Modified residuei2226PhosphoserineBy similarity1
Modified residuei2327PhosphoserineCombined sources1
Modified residuei2352PhosphoserineCombined sources1
Modified residuei2355PhosphoserineCombined sources1
Modified residuei2477PhosphoserineCombined sources1
Modified residuei2486PhosphoserineCombined sources1
Modified residuei3302PhosphoserineCombined sources1

Post-translational modificationi

Cleaved during mitotis which leads to removal of CDK5RAP2 from the centrosome and promotes centriole disengagement and subsequent centriole separation (PubMed:22722493, PubMed:25503564). The C-terminal fragment is rapidly degraded following cleavage (PubMed:22722493).2 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO95613
MaxQBiO95613
PaxDbiO95613
PeptideAtlasiO95613
PRIDEiO95613
ProteomicsDBi50949
50950 [O95613-2]

PTM databases

iPTMnetiO95613
PhosphoSitePlusiO95613

Expressioni

Tissue specificityi

Expressed in all tissues tested, including placenta, liver, kidney and thymus.1 Publication

Gene expression databases

BgeeiENSG00000160299
CleanExiHS_PCNT
ExpressionAtlasiO95613 baseline and differential
GenevisibleiO95613 HS

Organism-specific databases

HPAiHPA016820
HPA019887
HPA032101

Interactioni

Subunit structurei

Interacts with CHD3. Interacts with CHD4; the interaction regulates centrosome integrity (By similarity). Interacts with DISC1 and PCM1. Binds calmodulin. Interacts with CDK5RAP2; the interaction is leading to centrosomal localization of PCNT and CDK5RAP2. Interacts with isoform 1 of NEK2. Interacts with CEP131. Interacts with CCDC13 (PubMed:24816561). Interacts with CEP68 (PubMed:25503564). Interacts with ATF5; the ATF5:PCNT:polyglutamylated tubulin (PGT) tripartite unites the mother centriole and the pericentriolar material (PCM) in the centrosome (PubMed:26213385).By similarity8 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi111146, 75 interactors
CORUMiO95613
DIPiDIP-33829N
ELMiO95613
IntActiO95613, 40 interactors
MINTiO95613
STRINGi9606.ENSP00000352572

Structurei

3D structure databases

ProteinModelPortaliO95613
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni2983 – 3246Interaction with NEK21 PublicationAdd BLAST264
Regioni3195 – 3208Calmodulin-bindingAdd BLAST14

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili258 – 553Sequence analysisAdd BLAST296
Coiled coili675 – 835Sequence analysisAdd BLAST161
Coiled coili1010 – 1146Sequence analysisAdd BLAST137
Coiled coili1299 – 1949Sequence analysisAdd BLAST651
Coiled coili2064 – 2082Sequence analysisAdd BLAST19
Coiled coili2536 – 3086Sequence analysisAdd BLAST551

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi214 – 795Glu-richAdd BLAST582

Domaini

Composed of a coiled-coil central region flanked by non-helical N- and C-terminals.

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IJHT Eukaryota
ENOG4110FJZ LUCA
GeneTreeiENSGT00730000110871
HOGENOMiHOG000168229
HOVERGENiHBG079443
InParanoidiO95613
KOiK16481
OMAiKWQEVDR
OrthoDBiEOG091G001R
PhylomeDBiO95613
TreeFamiTF336114

Family and domain databases

InterProiView protein in InterPro
IPR028745 AKAP9/Pericentrin
IPR019528 PACT_domain
PANTHERiPTHR44981 PTHR44981, 7 hits
PfamiView protein in Pfam
PF10495 PACT_coil_coil, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O95613-1) [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
MEVEQEQRRR KVEAGRTKLA HFRQRKTKGD SSHSEKKTAK RKGSAVDASV 
        60         70         80         90        100
QEESPVTKED SALCGGGDIC KSTSCDDTPD GAGGAFAAQP EDCDGEKRED 
       110        120        130        140        150
LEQLQQKQVN DHPPEQCGMF TVSDHPPEQH GMFTVGDHPP EQRGMFTVSD 
       160        170        180        190        200
HPPEQHGMFT VSDHPPEQRG MFTISDHQPE QRGMFTVSDH TPEQRGIFTI 
       210        220        230        240        250
SDHPAEQRGM FTKECEQECE LAITDLESGR EDEAGLHQSQ AVHGLELEAL 
       260        270        280        290        300
RLSLSNMHTA QLELTQANLQ KEKETALTEL REMLNSRRAQ ELALLQSRQQ 
       310        320        330        340        350
HELELLREQH AREKEEVVLR CGQEAAELKE KLQSEMEKNA QIVKTLKEDW 
       360        370        380        390        400
ESEKDLCLEN LRKELSAKHQ SEMEDLQNQF QKELAEQRAE LEKIFQDKNQ 
       410        420        430        440        450
AERALRNLES HHQAAIEKLR EDLQSEHGRC LEDLEFKFKE SEKEKQLELE 
       460        470        480        490        500
NLQASYEDLK AQSQEEIRRL WSQLDSARTS RQELSELHEQ LLARTSRVED 
       510        520        530        540        550
LEQLKQREKT QHESELEQLR IYFEKKLRDA EKTYQEDLTL LQQRLQGARE 
       560        570        580        590        600
DALLDSVEVG LSCVGLEEKP EKGRKDHVDE LEPERHKESL PRFQAELEES 
       610        620        630        640        650
HRHQLEALES PLCIQHEGHV SDRCCVETSA LGHEWRLEPS EGHSQELPWV 
       660        670        680        690        700
HLQGVQDGDL EADTERAARV LGLETEHKVQ LSLLQTELKE EIELLKIENR 
       710        720        730        740        750
NLYGKLQHET RLKDDLEKVK HNLIEDHQKE LNNAKQKTEL MKQEFQRKET 
       760        770        780        790        800
DWKVMKEELQ REAEEKLTLM LLELREKAES EKQTIINKFE LREAEMRQLQ 
       810        820        830        840        850
DQQAAQILDL ERSLTEQQGR LQQLEQDLTS DDALHCSQCG REPPTAQDGE 
       860        870        880        890        900
LAALHVKEDC ALQLMLARSR FLEERKEITE KFSAEQDAFL QEAQEQHARE 
       910        920        930        940        950
LQLLQERHQQ QLLSVTAELE ARHQAALGEL TASLESKQGA LLAARVAELQ 
       960        970        980        990       1000
TKHAADLGAL ETRHLSSLDS LESCYLSEFQ TIREEHRQAL ELLRADFEEQ 
      1010       1020       1030       1040       1050
LWKKDSLHQT ILTQELEKLK RKHEGELQSV RDHLRTEVST ELAGTVAHEL 
      1060       1070       1080       1090       1100
QGVHQGEFGS EKKTALHEKE ETLRLQSAQA QPFHQEEKES LSLQLQKKNH 
      1110       1120       1130       1140       1150
QVQQLKDQVL SLSHEIEECR SELEVLQQRR ERENREGANL LSMLKADVNL 
      1160       1170       1180       1190       1200
SHSERGALQD ALRRLLGLFG ETLRAAVTLR SRIGERVGLC LDDAGAGLAL 
      1210       1220       1230       1240       1250
STAPALEETW SDVALPELDR TLSECAEMSS VAEISSHMRE SFLMSPESVR 
      1260       1270       1280       1290       1300
ECEQPIRRVF QSLSLAVDGL MEMALDSSRQ LEEARQIHSR FEKEFSFKNE 
      1310       1320       1330       1340       1350
ETAQVVRKHQ ELLECLKEES AAKAELALEL HKTQGTLEGF KVETADLKEV 
      1360       1370       1380       1390       1400
LAGKEDSEHR LVLELESLRR QLQQAAQEQA ALREECTRLW SRGEATATDA 
      1410       1420       1430       1440       1450
EAREAALRKE VEDLTKEQSE TRKQAEKDRS ALLSQMKILE SELEEQLSQH 
      1460       1470       1480       1490       1500
RGCAKQAEAV TALEQQVASL DKHLRNQRQF MDEQAAEREH EREEFQQEIQ 
      1510       1520       1530       1540       1550
RLEGQLRQAA KPQPWGPRDS QQAPLDGEVE LLQQKLREKL DEFNELAIQK 
      1560       1570       1580       1590       1600
ESADRQVLMQ EEEIKRLEEM NINIRKKVAQ LQEEVEKQKN IVKGLEQDKE 
      1610       1620       1630       1640       1650
VLKKQQMSSL LLASTLQSTL DAGRCPEPPS GSPPEGPEIQ LEVTQRALLR 
      1660       1670       1680       1690       1700
RESEVLDLKE QLEKMKGDLE SKNEEILHLN LKLDMQNSQT AVSLRELEEE 
      1710       1720       1730       1740       1750
NTSLKVIYTR SSEIEELKAT IENLQENQKR LQKEKAEEIE QLHEVIEKLQ 
      1760       1770       1780       1790       1800
HELSLMGPVV HEVSDSQAGS LQSELLCSQA GGPRGQALQG ELEAALEAKE 
      1810       1820       1830       1840       1850
ALSRLLADQE RRHSQALEAL QQRLQGAEEA AELQLAELER NVALREAEVE 
      1860       1870       1880       1890       1900
DMASRIQEFE AALKAKEATI AERNLEIDAL NQRKAAHSAE LEAVLLALAR 
      1910       1920       1930       1940       1950
IRRALEQQPL AAGAAPPELQ WLRAQCARLS RQLQVLHQRF LRCQVELDRR 
      1960       1970       1980       1990       2000
QARRATAHTR VPGAHPQPRM DGGAKAQVTG DVEASHDAAL EPVVPDPQGD 
      2010       2020       2030       2040       2050
LQPVLVTLKD APLCKQEGVM SVLTVCQRQL QSELLLVKNE MRLSLEDGGK 
      2060       2070       2080       2090       2100
GKEKVLEDCQ LPKVDLVAQV KQLQEKLNRL LYSMTFQNVD AADTKSLWPM 
      2110       2120       2130       2140       2150
ASAHLLESSW SDDSCDGEEP DISPHIDTCD ANTATGGVTD VIKNQAIDAC 
      2160       2170       2180       2190       2200
DANTTPGGVT DVIKNWDSLI PDEMPDSPIQ EKSECQDMSL SSPTSVLGGS 
      2210       2220       2230       2240       2250
RHQSHTAEAG PRKSPVGMLD LSSWSSPEVL RKDWTLEPWP SLPVTPHSGA 
      2260       2270       2280       2290       2300
LSLCSADTSL GDRADTSLPQ TQGPGLLCSP GVSAAALALQ WAESPPADDH 
      2310       2320       2330       2340       2350
HVQRTAVEKD VEDFITTSFD SQETLSSPPP GLEGKADRSE KSDGSGFGAR 
      2360       2370       2380       2390       2400
LSPGSGGPEA QTAGPVTPAS ISGRFQPLPE AMKEKEVRPK HVKALLQMVR 
      2410       2420       2430       2440       2450
DESHQILALS EGLAPPSGEP HPPRKEDEIQ DISLHGGKTQ EVPTACPDWR 
      2460       2470       2480       2490       2500
GDLLQVVQEA FEKEQEMQGV ELQPRLSGSD LGGHSSLLER LEKIIREQGD 
      2510       2520       2530       2540       2550
LQEKSLEHLR LPDRSSLLSE IQALRAQLRM THLQNQEKLQ HLRTALTSAE 
      2560       2570       2580       2590       2600
ARGSQQEHQL RRQVELLAYK VEQEKCIAGD LQKTLSEEQE KANSVQKLLA 
      2610       2620       2630       2640       2650
AEQTVVRDLK SDLCESRQKS EQLSRSLCEV QQEVLQLRSM LSSKENELKA 
      2660       2670       2680       2690       2700
ALQELESEQG KGRALQSQLE EEQLRHLQRE SQSAKALEEL RASLETQRAQ 
      2710       2720       2730       2740       2750
SSRLCVALKH EQTAKDNLQK ELRIEHSRCE ALLAQERSQL SELQKDLAAE 
      2760       2770       2780       2790       2800
KSRTLELSEA LRHERLLTEQ LSQRTQEACV HQDTQAHHAL LQKLKEEKSR 
      2810       2820       2830       2840       2850
VVDLQAMLEK VQQQALHSQQ QLEAEAQKHC EALRREKEVS ATLKSTVEAL 
      2860       2870       2880       2890       2900
HTQKRELRCS LEREREKPAW LQAELEQSHP RLKEQEGRKA ARRSAEARQS 
      2910       2920       2930       2940       2950
PAAAEQWRKW QRDKEKLREL ELQRQRDLHK IKQLQQTVRD LESKDEVPGS 
      2960       2970       2980       2990       3000
RLHLGSARRA AGSDADHLRE QQRELEAMRQ RLLSAARLLT SFTSQAVDRT 
      3010       3020       3030       3040       3050
VNDWTSSNEK AVMSLLHTLE ELKSDLSRPT SSQKKMAAEL QFQFVDVLLK 
      3060       3070       3080       3090       3100
DNVSLTKALS TVTQEKLELS RAVSKLEKLL KHHLQKGCSP SRSERSAWKP 
      3110       3120       3130       3140       3150
DETAPQSSLR RPDPGRLPPA ASEEAHTSNV KMEKLYLHYL RAESFRKALI 
      3160       3170       3180       3190       3200
YQKKYLLLLI GGFQDSEQET LSMIAHLGVF PSKAERKITS RPFTRFRTAV 
      3210       3220       3230       3240       3250
RVVIAILRLR FLVKKWQEVD RKGALAQGKA PRPGPRARQP QSPPRTRESP 
      3260       3270       3280       3290       3300
PTRDVPSGHT RDPARGRRLA AAASPHSGGR ATPSPNSRLE RSLTASQDPE 
      3310       3320       3330 
HSLTEYIHHL EVIQQRLGGV LPDSTSKKSC HPMIKQ
Length:3,336
Mass (Da):378,037
Last modified:November 30, 2010 - v4
Checksum:i4F182D2C201662A8
GO
Isoform 2 (identifier: O95613-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-118: Missing.
     2839-2917: Missing.

Note: No experimental confirmation available.
Show »
Length:3,139
Mass (Da):355,882
Checksum:iA0FD227ABCF410FD
GO

Sequence cautioni

The sequence AAD10838 differs from that shown. Reason: Frameshift at position 3320.Curated
The sequence BAA23698 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAC04252 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti703Y → F in AAD10838 (PubMed:11171385).Curated1
Sequence conflicti789F → L in AAD10838 (PubMed:11171385).Curated1
Sequence conflicti819G → A in AAD10838 (PubMed:11171385).Curated1
Sequence conflicti890 – 900Missing in AAD10838 (PubMed:11171385).CuratedAdd BLAST11
Sequence conflicti967S → T in AAD10838 (PubMed:11171385).Curated1
Sequence conflicti1024E → K in AAD10838 (PubMed:11171385).Curated1
Sequence conflicti1036T → A in BAC04252 (PubMed:14702039).Curated1
Sequence conflicti1287I → L in AAD10838 (PubMed:11171385).Curated1
Sequence conflicti1317K → T in AAD10838 (PubMed:11171385).Curated1
Sequence conflicti1534Q → H in AAD10838 (PubMed:11171385).Curated1
Sequence conflicti3136Y → S in AAD10838 (PubMed:11171385).Curated1
Sequence conflicti3300E → G in AAD10838 (PubMed:11171385).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_043878539T → I. Corresponds to variant dbSNP:rs2249060EnsemblClinVar.1
Natural variantiVAR_043879704G → E3 PublicationsCorresponds to variant dbSNP:rs2839223EnsemblClinVar.1
Natural variantiVAR_043880879T → A1 PublicationCorresponds to variant dbSNP:rs2839227EnsemblClinVar.1
Natural variantiVAR_0438811038V → A3 PublicationsCorresponds to variant dbSNP:rs6518289EnsemblClinVar.1
Natural variantiVAR_0438821163R → C. Corresponds to variant dbSNP:rs7279204EnsemblClinVar.1
Natural variantiVAR_0438831194A → T. Corresponds to variant dbSNP:rs35044802EnsemblClinVar.1
Natural variantiVAR_0694201452G → R Found in a patient with mental retardation, no speech, facial and limbs dysmorphisms. 1 PublicationCorresponds to variant dbSNP:rs143796569EnsemblClinVar.1
Natural variantiVAR_0438841639I → V. Corresponds to variant dbSNP:rs6518291EnsemblClinVar.1
Natural variantiVAR_0438851841N → S. Corresponds to variant dbSNP:rs35940413EnsemblClinVar.1
Natural variantiVAR_0438861953R → H. Corresponds to variant dbSNP:rs34268261EnsemblClinVar.1
Natural variantiVAR_0438871960R → Q. Corresponds to variant dbSNP:rs34813667EnsemblClinVar.1
Natural variantiVAR_0438882097L → P. Corresponds to variant dbSNP:rs2839245EnsemblClinVar.1
Natural variantiVAR_0438892125H → P. Corresponds to variant dbSNP:rs35978208EnsemblClinVar.1
Natural variantiVAR_0438902188M → R1 PublicationCorresponds to variant dbSNP:rs1044998EnsemblClinVar.1
Natural variantiVAR_0438912191S → P. Corresponds to variant dbSNP:rs34151633EnsemblClinVar.1
Natural variantiVAR_0569612239W → R. Corresponds to variant dbSNP:rs35346764EnsemblClinVar.1
Natural variantiVAR_0569622274P → L. Corresponds to variant dbSNP:rs2070425EnsemblClinVar.1
Natural variantiVAR_0569632329P → R. Corresponds to variant dbSNP:rs35848602EnsemblClinVar.1
Natural variantiVAR_0569642361Q → R. Corresponds to variant dbSNP:rs7277175EnsemblClinVar.1
Natural variantiVAR_0694212424R → Q Found in a patient with mental retardation, no speech, facial and limbs dysmorphisms. 1 PublicationCorresponds to variant dbSNP:rs371893416Ensembl.1
Natural variantiVAR_0569652549A → T1 PublicationCorresponds to variant dbSNP:rs2839256EnsemblClinVar.1
Natural variantiVAR_0569662625R → Q. Corresponds to variant dbSNP:rs8131693EnsemblClinVar.1
Natural variantiVAR_0569672659Q → H. Corresponds to variant dbSNP:rs2070426EnsemblClinVar.1
Natural variantiVAR_0569682753R → H. Corresponds to variant dbSNP:rs743346EnsemblClinVar.1
Natural variantiVAR_0569692792Q → R. Corresponds to variant dbSNP:rs2073376EnsemblClinVar.1
Natural variantiVAR_0569702903A → T. Corresponds to variant dbSNP:rs35147998EnsemblClinVar.1
Natural variantiVAR_0569712975L → P. Corresponds to variant dbSNP:rs35881595EnsemblClinVar.1
Natural variantiVAR_0569723091S → G. Corresponds to variant dbSNP:rs4818842EnsemblClinVar.1
Natural variantiVAR_0569733245R → S. Corresponds to variant dbSNP:rs2073380EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0401041 – 118Missing in isoform 2. 1 PublicationAdd BLAST118
Alternative sequenceiVSP_0401052839 – 2917Missing in isoform 2. 1 PublicationAdd BLAST79

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U52962 mRNA Translation: AAD10838.1 Frameshift.
AF515282 mRNA Translation: AAP46636.1
AB007862 mRNA Translation: BAA23698.3 Different initiation.
AP000471 Genomic DNA No translation available.
AP001477 Genomic DNA No translation available.
AP000335 Genomic DNA No translation available.
AP000336 Genomic DNA No translation available.
AP000337 Genomic DNA No translation available.
AK093923 mRNA Translation: BAC04252.1 Different initiation.
CCDSiCCDS33592.1 [O95613-1]
RefSeqiNP_001302458.1, NM_001315529.1 [O95613-2]
NP_006022.3, NM_006031.5 [O95613-1]
UniGeneiHs.474069

Genome annotation databases

EnsembliENST00000359568; ENSP00000352572; ENSG00000160299 [O95613-1]
GeneIDi5116
KEGGihsa:5116
UCSCiuc002zji.4 human [O95613-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPCNT_HUMAN
AccessioniPrimary (citable) accession number: O95613
Secondary accession number(s): O43152, Q7Z7C9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 30, 2010
Last modified: July 18, 2018
This is version 177 of the entry and version 4 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 21
    Human chromosome 21: 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

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