UniProtKB - O95613 (PCNT_HUMAN)
Pericentrin
PCNT
Functioni
GO - Molecular functioni
- calmodulin binding Source: UniProtKB-KW
- molecular adaptor activity Source: InterPro
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
Keywordsi
Molecular function | Calmodulin-binding |
Enzyme and pathway databases
PathwayCommonsi | O95613 |
Reactomei | R-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 R-HSA-9613829, Chaperone Mediated Autophagy R-HSA-9615710, Late endosomal microautophagy R-HSA-9646399, Aggrephagy |
SIGNORi | O95613 |
Names & Taxonomyi
Protein namesi | Recommended name: PericentrinAlternative name(s): Kendrin Pericentrin-B |
Gene namesi | Name:PCNT Synonyms:KIAA0402, PCNT2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000160299.16 |
HGNCi | HGNC:16068, PCNT |
MIMi | 605925, gene |
neXtProti | NX_O95613 |
Subcellular locationi
Cytoskeleton
- centrosome 6 Publications
Note: Centrosomal at all stages of the cell cycle. Remains associated with centrosomes following microtubule depolymerization. Colocalized with DISC1 at the centrosome.
Cytoskeleton
- centriolar satellite Source: UniProtKB
- centriole Source: MGI
- centrosome Source: UniProtKB
- microtubule Source: UniProtKB-KW
Cytosol
- cytosol Source: HPA
Other locations
- membrane Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, Cytoskeleton, MicrotubulePathology & Biotechi
Involvement in diseasei
Microcephalic osteodysplastic primordial dwarfism 2 (MOPD2)2 Publications
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 2231 | R → A: Produces non-cleavable protein which remains on centrosomes in late mitosis until its levels eventually drop in cells undergoing cytokinesis. 2 Publications | 1 | |
Mutagenesisi | 2232 | K → M: Stabilizes the C-terminal fragment produced by cleavage. 1 Publication | 1 | |
Mutagenesisi | 3196 – 3197 | FR → AA: Decrease in calmodulin binding. 1 Publication | 2 | |
Mutagenesisi | 3203 | V → A: Decrease in calmodulin binding. 1 Publication | 1 | |
Mutagenesisi | 3208 – 3209 | RL → AA: Decrease in calmodulin binding. 1 Publication | 2 |
Keywords - Diseasei
DwarfismOrganism-specific databases
DisGeNETi | 5116 |
MalaCardsi | PCNT |
MIMi | 210720, phenotype |
OpenTargetsi | ENSG00000160299 |
Orphaneti | 2637, Microcephalic osteodysplastic primordial dwarfism type II 808, Seckel syndrome |
PharmGKBi | PA33079 |
Miscellaneous databases
Pharosi | O95613, Tbio |
Polymorphism and mutation databases
BioMutai | PCNT |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000058257 | 1 – 3336 | PericentrinAdd BLAST | 3336 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 44 | PhosphoserineCombined sources | 1 | |
Modified residuei | 188 | PhosphoserineCombined sources | 1 | |
Modified residuei | 191 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 610 | PhosphoserineCombined sources | 1 | |
Modified residuei | 682 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1245 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1653 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1712 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2044 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2177 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2192 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2225 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2226 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2327 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2352 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2355 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2477 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2486 | PhosphoserineCombined sources | 1 | |
Modified residuei | 3302 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | O95613 |
jPOSTi | O95613 |
MassIVEi | O95613 |
MaxQBi | O95613 |
PaxDbi | O95613 |
PeptideAtlasi | O95613 |
PRIDEi | O95613 |
ProteomicsDBi | 50949 [O95613-1] 50950 [O95613-2] |
PTM databases
iPTMneti | O95613 |
MetOSitei | O95613 |
PhosphoSitePlusi | O95613 |
SwissPalmi | O95613 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000160299, Expressed in gastrocnemius and 235 other tissues |
ExpressionAtlasi | O95613, baseline and differential |
Genevisiblei | O95613, HS |
Organism-specific databases
HPAi | ENSG00000160299, Tissue enriched (skeletal) |
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 PublicationsBinary interactionsi
Hide detailsO95613
With | #Exp. | IntAct |
---|---|---|
CEP68 [Q76N32] | 3 | EBI-530012,EBI-9051024 |
DISC1 [Q9NRI5] | 5 | EBI-530012,EBI-529989 |
PCM1 [Q15154] | 8 | EBI-530012,EBI-741421 |
GO - Molecular functioni
- calmodulin binding Source: UniProtKB-KW
Protein-protein interaction databases
BioGRIDi | 111146, 87 interactors |
CORUMi | O95613 |
DIPi | DIP-33829N |
ELMi | O95613 |
IntActi | O95613, 59 interactors |
MINTi | O95613 |
STRINGi | 9606.ENSP00000352572 |
Miscellaneous databases
RNActi | O95613, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 2983 – 3246 | Interaction with NEK21 PublicationAdd BLAST | 264 | |
Regioni | 3195 – 3208 | Calmodulin-bindingAdd BLAST | 14 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 258 – 553 | Sequence analysisAdd BLAST | 296 | |
Coiled coili | 675 – 835 | Sequence analysisAdd BLAST | 161 | |
Coiled coili | 1010 – 1146 | Sequence analysisAdd BLAST | 137 | |
Coiled coili | 1299 – 1949 | Sequence analysisAdd BLAST | 651 | |
Coiled coili | 2064 – 2082 | Sequence analysisAdd BLAST | 19 | |
Coiled coili | 2536 – 3086 | Sequence analysisAdd BLAST | 551 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 214 – 795 | Glu-richAdd BLAST | 582 |
Domaini
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | ENOG502QV16, Eukaryota |
GeneTreei | ENSGT00730000110871 |
HOGENOMi | CLU_000160_0_0_1 |
InParanoidi | O95613 |
OMAi | VSDHHPE |
OrthoDBi | 8180at2759 |
PhylomeDBi | O95613 |
TreeFami | TF336114 |
Family and domain databases
InterProi | View protein in InterPro IPR028745, AKAP9/Pericentrin IPR019528, PACT_domain |
PANTHERi | PTHR44981, PTHR44981, 1 hit |
Pfami | View protein in Pfam PF10495, PACT_coil_coil, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketH7C2A3 | H7C2A3_HUMAN | Pericentrin | PCNT | 228 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 703 | Y → F in AAD10838 (PubMed:11171385).Curated | 1 | |
Sequence conflicti | 789 | F → L in AAD10838 (PubMed:11171385).Curated | 1 | |
Sequence conflicti | 819 | G → A in AAD10838 (PubMed:11171385).Curated | 1 | |
Sequence conflicti | 890 – 900 | Missing in AAD10838 (PubMed:11171385).CuratedAdd BLAST | 11 | |
Sequence conflicti | 967 | S → T in AAD10838 (PubMed:11171385).Curated | 1 | |
Sequence conflicti | 1024 | E → K in AAD10838 (PubMed:11171385).Curated | 1 | |
Sequence conflicti | 1036 | T → A in BAC04252 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 1287 | I → L in AAD10838 (PubMed:11171385).Curated | 1 | |
Sequence conflicti | 1317 | K → T in AAD10838 (PubMed:11171385).Curated | 1 | |
Sequence conflicti | 1534 | Q → H in AAD10838 (PubMed:11171385).Curated | 1 | |
Sequence conflicti | 3136 | Y → S in AAD10838 (PubMed:11171385).Curated | 1 | |
Sequence conflicti | 3300 | E → G in AAD10838 (PubMed:11171385).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_043878 | 539 | T → I. Corresponds to variant dbSNP:rs2249060EnsemblClinVar. | 1 | |
Natural variantiVAR_043879 | 704 | G → E3 PublicationsCorresponds to variant dbSNP:rs2839223EnsemblClinVar. | 1 | |
Natural variantiVAR_043880 | 879 | T → A1 PublicationCorresponds to variant dbSNP:rs2839227EnsemblClinVar. | 1 | |
Natural variantiVAR_043881 | 1038 | V → A3 PublicationsCorresponds to variant dbSNP:rs6518289EnsemblClinVar. | 1 | |
Natural variantiVAR_043882 | 1163 | R → C. Corresponds to variant dbSNP:rs7279204EnsemblClinVar. | 1 | |
Natural variantiVAR_043883 | 1194 | A → T. Corresponds to variant dbSNP:rs35044802EnsemblClinVar. | 1 | |
Natural variantiVAR_069420 | 1452 | G → R Found in a patient with mental retardation, no speech, facial and limbs dysmorphisms. 1 PublicationCorresponds to variant dbSNP:rs143796569EnsemblClinVar. | 1 | |
Natural variantiVAR_043884 | 1639 | I → V. Corresponds to variant dbSNP:rs6518291EnsemblClinVar. | 1 | |
Natural variantiVAR_043885 | 1841 | N → S. Corresponds to variant dbSNP:rs35940413EnsemblClinVar. | 1 | |
Natural variantiVAR_043886 | 1953 | R → H. Corresponds to variant dbSNP:rs34268261EnsemblClinVar. | 1 | |
Natural variantiVAR_043887 | 1960 | R → Q. Corresponds to variant dbSNP:rs34813667EnsemblClinVar. | 1 | |
Natural variantiVAR_043888 | 2097 | L → P. Corresponds to variant dbSNP:rs2839245EnsemblClinVar. | 1 | |
Natural variantiVAR_043889 | 2125 | H → P. Corresponds to variant dbSNP:rs35978208EnsemblClinVar. | 1 | |
Natural variantiVAR_043890 | 2188 | M → R1 PublicationCorresponds to variant dbSNP:rs1044998EnsemblClinVar. | 1 | |
Natural variantiVAR_043891 | 2191 | S → P. Corresponds to variant dbSNP:rs34151633EnsemblClinVar. | 1 | |
Natural variantiVAR_056961 | 2239 | W → R. Corresponds to variant dbSNP:rs35346764EnsemblClinVar. | 1 | |
Natural variantiVAR_056962 | 2274 | P → L. Corresponds to variant dbSNP:rs2070425EnsemblClinVar. | 1 | |
Natural variantiVAR_056963 | 2329 | P → R. Corresponds to variant dbSNP:rs35848602EnsemblClinVar. | 1 | |
Natural variantiVAR_056964 | 2361 | Q → R. Corresponds to variant dbSNP:rs7277175EnsemblClinVar. | 1 | |
Natural variantiVAR_069421 | 2424 | R → Q Found in a patient with mental retardation, no speech, facial and limbs dysmorphisms. 1 PublicationCorresponds to variant dbSNP:rs371893416Ensembl. | 1 | |
Natural variantiVAR_056965 | 2549 | A → T1 PublicationCorresponds to variant dbSNP:rs2839256EnsemblClinVar. | 1 | |
Natural variantiVAR_056966 | 2625 | R → Q. Corresponds to variant dbSNP:rs8131693EnsemblClinVar. | 1 | |
Natural variantiVAR_056967 | 2659 | Q → H. Corresponds to variant dbSNP:rs2070426EnsemblClinVar. | 1 | |
Natural variantiVAR_056968 | 2753 | R → H. Corresponds to variant dbSNP:rs743346EnsemblClinVar. | 1 | |
Natural variantiVAR_056969 | 2792 | Q → R. Corresponds to variant dbSNP:rs2073376EnsemblClinVar. | 1 | |
Natural variantiVAR_056970 | 2903 | A → T. Corresponds to variant dbSNP:rs35147998EnsemblClinVar. | 1 | |
Natural variantiVAR_056971 | 2975 | L → P. Corresponds to variant dbSNP:rs35881595EnsemblClinVar. | 1 | |
Natural variantiVAR_056972 | 3091 | S → G. Corresponds to variant dbSNP:rs4818842EnsemblClinVar. | 1 | |
Natural variantiVAR_056973 | 3245 | R → S. Corresponds to variant dbSNP:rs2073380EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_040104 | 1 – 118 | Missing in isoform 2. 1 PublicationAdd BLAST | 118 | |
Alternative sequenceiVSP_040105 | 2839 – 2917 | Missing in isoform 2. 1 PublicationAdd BLAST | 79 |
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. |
CCDSi | CCDS33592.1 [O95613-1] |
RefSeqi | NP_001302458.1, NM_001315529.1 [O95613-2] NP_006022.3, NM_006031.5 [O95613-1] |
Genome annotation databases
Ensembli | ENST00000359568; ENSP00000352572; ENSG00000160299 [O95613-1] |
GeneIDi | 5116 |
KEGGi | hsa:5116 |
UCSCi | uc002zji.4, human [O95613-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
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. |
CCDSi | CCDS33592.1 [O95613-1] |
RefSeqi | NP_001302458.1, NM_001315529.1 [O95613-2] NP_006022.3, NM_006031.5 [O95613-1] |
3D structure databases
SMRi | O95613 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 111146, 87 interactors |
CORUMi | O95613 |
DIPi | DIP-33829N |
ELMi | O95613 |
IntActi | O95613, 59 interactors |
MINTi | O95613 |
STRINGi | 9606.ENSP00000352572 |
PTM databases
iPTMneti | O95613 |
MetOSitei | O95613 |
PhosphoSitePlusi | O95613 |
SwissPalmi | O95613 |
Polymorphism and mutation databases
BioMutai | PCNT |
Proteomic databases
EPDi | O95613 |
jPOSTi | O95613 |
MassIVEi | O95613 |
MaxQBi | O95613 |
PaxDbi | O95613 |
PeptideAtlasi | O95613 |
PRIDEi | O95613 |
ProteomicsDBi | 50949 [O95613-1] 50950 [O95613-2] |
Protocols and materials databases
Antibodypediai | 3139, 176 antibodies |
Genome annotation databases
Ensembli | ENST00000359568; ENSP00000352572; ENSG00000160299 [O95613-1] |
GeneIDi | 5116 |
KEGGi | hsa:5116 |
UCSCi | uc002zji.4, human [O95613-1] |
Organism-specific databases
CTDi | 5116 |
DisGeNETi | 5116 |
EuPathDBi | HostDB:ENSG00000160299.16 |
GeneCardsi | PCNT |
HGNCi | HGNC:16068, PCNT |
HPAi | ENSG00000160299, Tissue enriched (skeletal) |
MalaCardsi | PCNT |
MIMi | 210720, phenotype 605925, gene |
neXtProti | NX_O95613 |
OpenTargetsi | ENSG00000160299 |
Orphaneti | 2637, Microcephalic osteodysplastic primordial dwarfism type II 808, Seckel syndrome |
PharmGKBi | PA33079 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QV16, Eukaryota |
GeneTreei | ENSGT00730000110871 |
HOGENOMi | CLU_000160_0_0_1 |
InParanoidi | O95613 |
OMAi | VSDHHPE |
OrthoDBi | 8180at2759 |
PhylomeDBi | O95613 |
TreeFami | TF336114 |
Enzyme and pathway databases
PathwayCommonsi | O95613 |
Reactomei | R-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 R-HSA-9613829, Chaperone Mediated Autophagy R-HSA-9615710, Late endosomal microautophagy R-HSA-9646399, Aggrephagy |
SIGNORi | O95613 |
Miscellaneous databases
BioGRID-ORCSi | 5116, 71 hits in 845 CRISPR screens |
ChiTaRSi | PCNT, human |
GeneWikii | PCNT |
GenomeRNAii | 5116 |
Pharosi | O95613, Tbio |
PROi | PR:O95613 |
RNActi | O95613, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000160299, Expressed in gastrocnemius and 235 other tissues |
ExpressionAtlasi | O95613, baseline and differential |
Genevisiblei | O95613, HS |
Family and domain databases
InterProi | View protein in InterPro IPR028745, AKAP9/Pericentrin IPR019528, PACT_domain |
PANTHERi | PTHR44981, PTHR44981, 1 hit |
Pfami | View protein in Pfam PF10495, PACT_coil_coil, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PCNT_HUMAN | |
Accessioni | O95613Primary (citable) accession number: O95613 Secondary accession number(s): O43152, Q7Z7C9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 30, 2000 |
Last sequence update: | November 30, 2010 | |
Last modified: | December 2, 2020 | |
This is version 195 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human chromosome 21
Human chromosome 21: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations