Reviewed, UniProtKB/Swiss-Prot O95613 (PCNT_HUMAN)

Names and origin

Protein names

Recommended name:
    Pericentrin
Alternative name(s):
    Pericentrin-B
    Kendrin

Gene names

Name:	PCNT
Synonyms:	KIAA0402, PCNT2

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	3336 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	An integral component of the pericentriolar material (PCM). Ref.1 Ref.8
Subunit structure	Interacts with PCM1. Binds calmodulin. Ref.1
Subcellular location	Centrosome. Note: Centrosomal at all stages of the cell cycle. Remains associated with centrosomes following microtubule depolymerization. Ref.1 Ref.8
Tissue specificity	Expressed in all tissues tested, including placenta, liver, kidney and thymus. Ref.8
Involvement in disease	Defects in PCNT are the cause of microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2) [MIM:210720]; also known as osteodysplastic primordial dwarfism type 2. Adults 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. Ref.10 Ref.11
Sequence caution	The sequence AAD10838.1 differs from that shown. Reason: Frameshift at position 3320.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Disease	Dwarfism
Domain	Coiled coil
Ligand	Calmodulin-binding
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	cilium assembly Inferred from direct assay. Source: MGI
Cellular component	centrosome Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	calmodulin binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
DISC1	Q9NRI5	3	EBI-530012,EBI-529989

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 3336	3336	Pericentrin		PRO_0000058257
Regions
	Region	3195 – 3208	14	Calmodulin-binding
	Coiled coil	258 – 553	296	Potential
	Coiled coil	675 – 835	161	Potential
	Coiled coil	1010 – 1146	137	Potential
	Coiled coil	1299 – 1949	651	Potential
	Coiled coil	2064 – 2082	19	Potential
	Coiled coil	2536 – 3086	551	Potential
	Compositional bias	214 – 795	582	Glu-rich
Amino acid modifications
	Modified residue	366	1	Phosphoserine By similarity
	Modified residue	1703	1	Phosphoserine Ref.9
	Modified residue	1712	1	Phosphoserine By similarity
Natural variations
	Natural variant	539	1	T → I: dbSNP rs2249060.		VAR_043878
	Natural variant	704	1	E → G: dbSNP rs2839223. Ref.3		VAR_043879
	Natural variant	879	1	T → A: dbSNP rs2839227. Ref.1		VAR_043880
	Natural variant	1038	1	A → V: dbSNP rs6518289. Ref.3 Ref.2		VAR_043881
	Natural variant	1163	1	R → C: dbSNP rs7279204.		VAR_043882
	Natural variant	1194	1	A → T: dbSNP rs35044802.		VAR_043883
	Natural variant	1639	1	I → V: dbSNP rs6518291.		VAR_043884
	Natural variant	1841	1	N → S: dbSNP rs35940413.		VAR_043885
	Natural variant	1953	1	R → H: dbSNP rs34268261.		VAR_043886
	Natural variant	1960	1	R → Q: dbSNP rs34813667.		VAR_043887
	Natural variant	2097	1	L → P: dbSNP rs2839245.		VAR_043888
	Natural variant	2125	1	H → P: dbSNP rs35978208.		VAR_043889
	Natural variant	2188	1	M → R: dbSNP rs1044998. Ref.1		VAR_043890
	Natural variant	2191	1	S → P: dbSNP rs34151633.		VAR_043891
	Natural variant	2239	1	W → R: dbSNP rs35346764.		VAR_056961
	Natural variant	2274	1	P → L: dbSNP rs2070425.		VAR_056962
	Natural variant	2329	1	P → R: dbSNP rs35848602.		VAR_056963
	Natural variant	2361	1	Q → R: dbSNP rs7277175.		VAR_056964
	Natural variant	2549	1	A → T: dbSNP rs2839256.		VAR_056965
	Natural variant	2625	1	R → Q: dbSNP rs8131693.		VAR_056966
	Natural variant	2659	1	Q → H: dbSNP rs2070426.		VAR_056967
	Natural variant	2753	1	R → H: dbSNP rs743346.		VAR_056968
	Natural variant	2792	1	Q → R: dbSNP rs2073376.		VAR_056969
	Natural variant	2903	1	A → T: dbSNP rs35147998.		VAR_056970
	Natural variant	2975	1	L → P: dbSNP rs35881595.		VAR_056971
	Natural variant	3091	1	S → G: dbSNP rs4818842.		VAR_056972
	Natural variant	3245	1	R → S: dbSNP rs2073380.		VAR_056973
Experimental info
	Mutagenesis	3196 – 3197	2	FR → AA: Decrease in calmodulin binding.
	Mutagenesis	3203	1	V → A: Decrease in calmodulin binding. Ref.8
	Mutagenesis	3208 – 3209	2	RL → AA: Decrease in calmodulin binding.
	Sequence conflict	703	1	Y → F in AAD10838. Ref.1
	Sequence conflict	789	1	F → L in AAD10838. Ref.1
	Sequence conflict	819	1	G → A in AAD10838. Ref.1
	Sequence conflict	890 – 900	11	Missing in AAD10838. Ref.1
	Sequence conflict	967	1	S → T in AAD10838. Ref.1
	Sequence conflict	1024	1	E → K in AAD10838. Ref.1
	Sequence conflict	1036	1	T → A in BAC04252. Ref.7
	Sequence conflict	1287	1	I → L in AAD10838. Ref.1
	Sequence conflict	1317	1	K → T in AAD10838. Ref.1
	Sequence conflict	1534	1	Q → H in AAD10838. Ref.1
	Sequence conflict	3136	1	Y → S in AAD10838. Ref.1
	Sequence conflict	3300	1	E → G in AAD10838. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	O95613-1 [UniParc]. Last modified July 19, 2004. Version 3. Checksum: 5DDDD33E0A53C89E	FASTA	3,336	378,081
	10 20 30 40 50 60 MEVEQEQRRR KVEAGRTKLA HFRQRKTKGD SSHSEKKTAK RKGSAVDASV QEESPVTKED 70 80 90 100 110 120 SALCGGGDIC KSTSCDDTPD GAGGAFAAQP EDCDGEKRED LEQLQQKQVN DHPPEQCGMF 130 140 150 160 170 180 TVSDHPPEQH GMFTVGDHPP EQRGMFTVSD HPPEQHGMFT VSDHPPEQRG MFTISDHQPE 190 200 210 220 230 240 QRGMFTVSDH TPEQRGIFTI SDHPAEQRGM FTKECEQECE LAITDLESGR EDEAGLHQSQ 250 260 270 280 290 300 AVHGLELEAL RLSLSNMHTA QLELTQANLQ KEKETALTEL REMLNSRRAQ ELALLQSRQQ 310 320 330 340 350 360 HELELLREQH AREKEEVVLR CGQEAAELKE KLQSEMEKNA QIVKTLKEDW ESEKDLCLEN 370 380 390 400 410 420 LRKELSAKHQ SEMEDLQNQF QKELAEQRAE LEKIFQDKNQ AERALRNLES HHQAAIEKLR 430 440 450 460 470 480 EDLQSEHGRC LEDLEFKFKE SEKEKQLELE NLQASYEDLK AQSQEEIRRL WSQLDSARTS 490 500 510 520 530 540 RQELSELHEQ LLARTSRVED LEQLKQREKT QHESELEQLR IYFEKKLRDA EKTYQEDLTL 550 560 570 580 590 600 LQQRLQGARE DALLDSVEVG LSCVGLEEKP EKGRKDHVDE LEPERHKESL PRFQAELEES 610 620 630 640 650 660 HRHQLEALES PLCIQHEGHV SDRCCVETSA LGHEWRLEPS EGHSQELPWV HLQGVQDGDL 670 680 690 700 710 720 EADTERAARV LGLETEHKVQ LSLLQTELKE EIELLKIENR NLYEKLQHET RLKDDLEKVK 730 740 750 760 770 780 HNLIEDHQKE LNNAKQKTEL MKQEFQRKET DWKVMKEELQ REAEEKLTLM LLELREKAES 790 800 810 820 830 840 EKQTIINKFE LREAEMRQLQ DQQAAQILDL ERSLTEQQGR LQQLEQDLTS DDALHCSQCG 850 860 870 880 890 900 REPPTAQDGE LAALHVKEDC ALQLMLARSR FLEERKEITE KFSAEQDAFL QEAQEQHARE 910 920 930 940 950 960 LQLLQERHQQ QLLSVTAELE ARHQAALGEL TASLESKQGA LLAARVAELQ TKHAADLGAL 970 980 990 1000 1010 1020 ETRHLSSLDS LESCYLSEFQ TIREEHRQAL ELLRADFEEQ LWKKDSLHQT ILTQELEKLK 1030 1040 1050 1060 1070 1080 RKHEGELQSV RDHLRTEAST ELAGTVAHEL QGVHQGEFGS EKKTALHEKE ETLRLQSAQA 1090 1100 1110 1120 1130 1140 QPFHQEEKES LSLQLQKKNH QVQQLKDQVL SLSHEIEECR SELEVLQQRR ERENREGANL 1150 1160 1170 1180 1190 1200 LSMLKADVNL SHSERGALQD ALRRLLGLFG ETLRAAVTLR SRIGERVGLC LDDAGAGLAL 1210 1220 1230 1240 1250 1260 STAPALEETW SDVALPELDR TLSECAEMSS VAEISSHMRE SFLMSPESVR ECEQPIRRVF 1270 1280 1290 1300 1310 1320 QSLSLAVDGL MEMALDSSRQ LEEARQIHSR FEKEFSFKNE ETAQVVRKHQ ELLECLKEES 1330 1340 1350 1360 1370 1380 AAKAELALEL HKTQGTLEGF KVETADLKEV LAGKEDSEHR LVLELESLRR QLQQAAQEQA 1390 1400 1410 1420 1430 1440 ALREECTRLW SRGEATATDA EAREAALRKE VEDLTKEQSE TRKQAEKDRS ALLSQMKILE 1450 1460 1470 1480 1490 1500 SELEEQLSQH RGCAKQAEAV TALEQQVASL DKHLRNQRQF MDEQAAEREH EREEFQQEIQ 1510 1520 1530 1540 1550 1560 RLEGQLRQAA KPQPWGPRDS QQAPLDGEVE LLQQKLREKL DEFNELAIQK ESADRQVLMQ 1570 1580 1590 1600 1610 1620 EEEIKRLEEM NINIRKKVAQ LQEEVEKQKN IVKGLEQDKE VLKKQQMSSL LLASTLQSTL 1630 1640 1650 1660 1670 1680 DAGRCPEPPS GSPPEGPEIQ LEVTQRALLR RESEVLDLKE QLEKMKGDLE SKNEEILHLN 1690 1700 1710 1720 1730 1740 LKLDMQNSQT AVSLRELEEE NTSLKVIYTR SSEIEELKAT IENLQENQKR LQKEKAEEIE 1750 1760 1770 1780 1790 1800 QLHEVIEKLQ HELSLMGPVV HEVSDSQAGS LQSELLCSQA GGPRGQALQG ELEAALEAKE 1810 1820 1830 1840 1850 1860 ALSRLLADQE RRHSQALEAL QQRLQGAEEA AELQLAELER NVALREAEVE DMASRIQEFE 1870 1880 1890 1900 1910 1920 AALKAKEATI AERNLEIDAL NQRKAAHSAE LEAVLLALAR IRRALEQQPL AAGAAPPELQ 1930 1940 1950 1960 1970 1980 WLRAQCARLS RQLQVLHQRF LRCQVELDRR QARRATAHTR VPGAHPQPRM DGGAKAQVTG 1990 2000 2010 2020 2030 2040 DVEASHDAAL EPVVPDPQGD LQPVLVTLKD APLCKQEGVM SVLTVCQRQL QSELLLVKNE 2050 2060 2070 2080 2090 2100 MRLSLEDGGK GKEKVLEDCQ LPKVDLVAQV KQLQEKLNRL LYSMTFQNVD AADTKSLWPM 2110 2120 2130 2140 2150 2160 ASAHLLESSW SDDSCDGEEP DISPHIDTCD ANTATGGVTD VIKNQAIDAC DANTTPGGVT 2170 2180 2190 2200 2210 2220 DVIKNWDSLI PDEMPDSPIQ EKSECQDMSL SSPTSVLGGS RHQSHTAEAG PRKSPVGMLD 2230 2240 2250 2260 2270 2280 LSSWSSPEVL RKDWTLEPWP SLPVTPHSGA LSLCSADTSL GDRADTSLPQ TQGPGLLCSP 2290 2300 2310 2320 2330 2340 GVSAAALALQ WAESPPADDH HVQRTAVEKD VEDFITTSFD SQETLSSPPP GLEGKADRSE 2350 2360 2370 2380 2390 2400 KSDGSGFGAR LSPGSGGPEA QTAGPVTPAS ISGRFQPLPE AMKEKEVRPK HVKALLQMVR 2410 2420 2430 2440 2450 2460 DESHQILALS EGLAPPSGEP HPPRKEDEIQ DISLHGGKTQ EVPTACPDWR GDLLQVVQEA 2470 2480 2490 2500 2510 2520 FEKEQEMQGV ELQPRLSGSD LGGHSSLLER LEKIIREQGD LQEKSLEHLR LPDRSSLLSE 2530 2540 2550 2560 2570 2580 IQALRAQLRM THLQNQEKLQ HLRTALTSAE ARGSQQEHQL RRQVELLAYK VEQEKCIAGD 2590 2600 2610 2620 2630 2640 LQKTLSEEQE KANSVQKLLA AEQTVVRDLK SDLCESRQKS EQLSRSLCEV QQEVLQLRSM 2650 2660 2670 2680 2690 2700 LSSKENELKA ALQELESEQG KGRALQSQLE EEQLRHLQRE SQSAKALEEL RASLETQRAQ 2710 2720 2730 2740 2750 2760 SSRLCVALKH EQTAKDNLQK ELRIEHSRCE ALLAQERSQL SELQKDLAAE KSRTLELSEA 2770 2780 2790 2800 2810 2820 LRHERLLTEQ LSQRTQEACV HQDTQAHHAL LQKLKEEKSR VVDLQAMLEK VQQQALHSQQ 2830 2840 2850 2860 2870 2880 QLEAEAQKHC EALRREKEVS ATLKSTVEAL HTQKRELRCS LEREREKPAW LQAELEQSHP 2890 2900 2910 2920 2930 2940 RLKEQEGRKA ARRSAEARQS PAAAEQWRKW QRDKEKLREL ELQRQRDLHK IKQLQQTVRD 2950 2960 2970 2980 2990 3000 LESKDEVPGS RLHLGSARRA AGSDADHLRE QQRELEAMRQ RLLSAARLLT SFTSQAVDRT 3010 3020 3030 3040 3050 3060 VNDWTSSNEK AVMSLLHTLE ELKSDLSRPT SSQKKMAAEL QFQFVDVLLK DNVSLTKALS 3070 3080 3090 3100 3110 3120 TVTQEKLELS RAVSKLEKLL KHHLQKGCSP SRSERSAWKP DETAPQSSLR RPDPGRLPPA 3130 3140 3150 3160 3170 3180 ASEEAHTSNV KMEKLYLHYL RAESFRKALI YQKKYLLLLI GGFQDSEQET LSMIAHLGVF 3190 3200 3210 3220 3230 3240 PSKAERKITS RPFTRFRTAV RVVIAILRLR FLVKKWQEVD RKGALAQGKA PRPGPRARQP 3250 3260 3270 3280 3290 3300 QSPPRTRESP PTRDVPSGHT RDPARGRRLA AAASPHSGGR ATPSPNSRLE RSLTASQDPE 3310 3320 3330 HSLTEYIHHL EVIQQRLGGV LPDSTSKKSC HPMIKQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Kendrin/pericentrin-B, a centrosome protein with homology to pericentrin that complexes with PCM-1." Li Q., Hansen D., Killilea A., Joshi H.C., Palazzo R.E., Balczon R. J. Cell Sci. 114:797-809(2001) [PubMed: 11171385] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBUNIT, SUBCELLULAR LOCATION, VARIANTS ALA-879; ARG-2188 AND THR-2549.
[2]	"Vertebrate centrosome proteins that share homology with yeast mitotic exit proteins are required for cytokinesis and cell cycle progression." Gromley A.S., Jurczyk A., Sillibourne J.E., Halilovic E., Doxsey S.J. Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT VAL-1038.
[3]	"The DNA sequence of human chromosome 21." Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A. , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L. Nature 405:311-319(2000) [PubMed: 10830953] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS GLY-704 AND VAL-1038.
[4]	"Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro." Ishikawa K., Nagase T., Nakajima D., Seki N., Ohira M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 4:307-313(1997) [PubMed: 9455477] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 20-3336. Tissue: Brain.
[5]	"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones." Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T. DNA Res. 9:99-106(2002) [PubMed: 12168954] [Abstract] Cited for: SEQUENCE REVISION TO 3023.
[6]	Ohara O. Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION.
[7]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 787-1533. Tissue: Trachea.
[8]	"Identification of a human centrosomal calmodulin-binding protein that shares homology with pericentrin." Flory M.R., Moser M.J., Monnat R.J. Jr., Davis T.N. Proc. Natl. Acad. Sci. U.S.A. 97:5919-5923(2000) [PubMed: 10823944] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, CALMODULIN-BINDING DOMAIN, MUTAGENESIS OF 3196-PHE-ARG-3197; VAL-3203 AND 3208-ARG-LEU-3209.
[9]	"Phosphoproteome analysis of the human mitotic spindle." Nousiainen M., Sillje H.H.W., Sauer G., Nigg E.A., Koerner R. Proc. Natl. Acad. Sci. U.S.A. 103:5391-5396(2006) [PubMed: 16565220] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1703, MASS SPECTROMETRY. Tissue: Epithelium.
[10]	"Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling." Griffith E., Walker S., Martin C.-A., Vagnarelli P., Stiff T., Vernay B., Al Sanna N., Saggar A., Hamel B., Earnshaw W.C., Jeggo P.A., Jackson A.P., O'Driscoll M. Nat. Genet. 40:232-236(2008) [PubMed: 18157127] [Abstract] Cited for: INVOLVEMENT IN MOPD2.
[11]	"Mutations in the pericentrin (PCNT) gene cause primordial dwarfism." Rauch A., Thiel C.T., Schindler D., Wick U., Crow Y.J., Ekici A.B., van Essen A.J., Goecke T.O., Al-Gazali L., Chrzanowska K.H., Zweier C., Brunner H.G., Becker K., Curry C.J., Dallapiccola B., Devriendt K., Doerfler A., Kinning E. , Megarbane A., Meinecke P., Semple R.K., Spranger S., Toutain A., Trembath R.C., Voss E., Wilson L., Hennekam R., de Zegher F., Doerr H.-G., Reis A. Science 319:816-819(2008) [PubMed: 18174396] [Abstract] Cited for: INVOLVEMENT IN MOPD2.
[12]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	U52962 mRNA. Translation: AAD10838.1. Frameshift. AF515282 mRNA. Translation: AAP46636.1. 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. AB007862 mRNA. Translation: BAA23698.3. Sequence problems. AK093923 mRNA. Translation: BAC04252.1. Different initiation.
IPI	IPI00479143.
RefSeq	NP_006022.3.
UniGene	Hs.474069
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	O95613. 2 interactions.
PTM databases
PhosphoSite	O95613.
Proteomic databases
PRIDE	O95613.
Genome annotation databases
Ensembl	ENSG00000160299. Homo sapiens. [Contig view]
GeneID	5116.
KEGG	hsa:5116.
UCSC	uc002zji.2. human.
Organism-specific databases
GeneCards	GC21P046569.
H-InvDB	HIX0016192.
HGNC	HGNC:16068. PCNT.
MIM	210720. phenotype. 605925. gene.
Orphanet	2637. Microcephalic osteodysplastic primordial short stature, type 2. 808. Seckel syndrome.
PharmGKB	PA33079.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
HOGENOM	O95613.
HOVERGEN	O95613.
Enzyme and pathway databases
Reactome	REACT_152. Cell Cycle, Mitotic.
Gene expression databases
ArrayExpress	O95613.
Bgee	O95613.
CleanEx	HS_PCNT.
GermOnline	ENSG00000160299. Homo sapiens.
Family and domain databases
InterPro	IPR019528. PACT_domain. [Graphical view]
Pfam	PF10495. PACT_coil_coil. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
SOURCE	Search...

Entry information

Entry name

PCNT_HUMAN

Accession

Primary (citable) accession number: O95613
Secondary accession number(s): O43152, Q7Z7C9

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	July 19, 2004
Last modified:	July 7, 2009
This is version 86 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)