O94986 (CE152_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Centrosomal protein of 152 kDa
Short name=Cep152

Gene names

Name:	CEP152
Synonyms:	KIAA0912

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1654 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Regulator of genomic integrity and cellular response to DNA damage acting through ATR-mediated checkpoint signaling. Necessary for centrosome duplication. It functions as a molecular scaffold facilitating the interaction of PLK4 and CENPJ, two molecules involved in centriole formation. Ref.5 Ref.6 Ref.7
Subunit structure	Interacts (via N-terminus) with PLK4. Interacts (via C-terminus) with CENPJ (via-N-terminus). Interacts with CINP. Interacts with CEP63; this interaction recruits CEP152 to centrosomes. Ref.5 Ref.6 Ref.7 Ref.8
Subcellular location	Cytoplasm › cytoskeleton › centrosome. Note: Colocalizes with CEP63 in a discrete ring around the proximal end of the parental centriole. At this site, a cohesive structure is predicted to engage parental centrioles and procentrioles. Ref.5 Ref.7 Ref.8 Ref.9
Involvement in disease	Microcephaly, primary, 9 (MCPH9) [MIM:614852]: A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9 Seckel syndrome 5 (SCKL5) [MIM:613823]: A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7
Sequence caution	The sequence AAH69186.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence. The sequence BAA74935.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Cellular component	Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Dwarfism Mental retardation Primary microcephaly
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	G2/M transition of mitotic cell cycle Traceable author statement. Source: Reactome centrosome duplication Inferred from mutant phenotype Ref.6. Source: UniProtKB
Cellular_component	centrosome Inferred from direct assay Ref.7PubMed 21399614. Source: UniProtKB cytosol Traceable author statement. Source: Reactome nucleus Inferred from direct assay. Source: HPA
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 3 (identifier: O94986-3)

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.

Isoform 1 (identifier: O94986-1)

The sequence of this isoform differs from the canonical sequence as follows:
     89-181: Missing.
     1156-1156: E → DKKKVLEIKDLCCGHCFQELEKAKQECQDLKGKLEKCCRHLQHLERKHKAVVEKIGE
     1309-1312: ALPL → GMSK
     1313-1654: Missing.

Isoform 2 (identifier: O94986-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1156-1156: E → DKKKVLEIKDLCCGHCFQELEKAKQECQDLKGKLEKCCRHLQHLERKHKAVVEKIGE
     1309-1312: ALPL → GMSK
     1313-1654: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1654	1654	Centrosomal protein of 152 kDa		PRO_0000089462
Regions
	Coiled coil	234 – 490	257	Potential
	Coiled coil	615 – 664	50	Potential
	Coiled coil	700 – 772	73	Potential
	Coiled coil	902 – 993	92	Potential
	Coiled coil	1146 – 1185	40	Potential
Natural variations
	Alternative sequence	89 – 181	93	Missing in isoform 1.		VSP_035981
	Alternative sequence	1156	1	E → DKKKVLEIKDLCCGHCFQEL EKAKQECQDLKGKLEKCCRH LQHLERKHKAVVEKIGE in isoform 1 and isoform 2.		VSP_035982
	Alternative sequence	1309 – 1312	4	ALPL → GMSK in isoform 1 and isoform 2.		VSP_035983
	Alternative sequence	1313 – 1654	342	Missing in isoform 1 and isoform 2.		VSP_035984
	Natural variant	54	1	S → L. Corresponds to variant rs2289181 [ dbSNP | Ensembl ].		VAR_047932
	Natural variant	265	1	Q → P in MCPH9. Ref.9		VAR_063813
	Natural variant	667	1	K → R in SCKL5. Ref.7		VAR_065258
	Natural variant	793	1	S → I. Corresponds to variant rs2289178 [ dbSNP | Ensembl ].		VAR_050779
	Natural variant	914	1	L → V. Corresponds to variant rs16961560 [ dbSNP | Ensembl ].		VAR_050780
	Natural variant	1106	1	V → A. Corresponds to variant rs16961557 [ dbSNP | Ensembl ].		VAR_050781
Experimental info
	Sequence conflict	558	1	S → P in AAH69186. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 3 [UniParc]. Last modified December 16, 2008. Version 3. Checksum: C517B4CFBDAB87E9	FASTA	1,654	189,071
	10 20 30 40 50 60 MSLDFGSVAL PVQNEDEEYD EEDYEREKEL QQLLTDLPHD MLDDDLSSPE LQYSDCSEDG 70 80 90 100 110 120 TDGQPHHPEQ LEMSWNEQML PKSQSVNGYN EIQSLYAGEK CGNVWEENRS KTEDRHPVYH 130 140 150 160 170 180 PEEGGDEGGS GYSPPSKCEQ TDLYHLPENF RPYTNGQKQE FNNQATNVIK FSDPQWNHFQ 190 200 210 220 230 240 GPSCQGLEPY NKVTYKPYQS SAQNNGSPAQ EITGSDTFEG LQQQFLGANE NSAENMQIIQ 250 260 270 280 290 300 LQVLNKAKER QLENLIEKLN ESERQIRYLN HQLVIIKDEK DGLTLSLRES QKLFQNGKER 310 320 330 340 350 360 EIQLEAQIKA LETQIQALKV NEEQMIKKSR TTEMALESLK QQLVDLHHSE SLQRAREQHE 370 380 390 400 410 420 SIVMGLTKKY EEQVLSLQKN LDATVTALKE QEDICSRLKD HVKQLERNQE AIKLEKTEII 430 440 450 460 470 480 NKLTRSLEES QKQCAHLLQS GSVQEVAQLQ FQLQQAQKAH AMSANMNKAL QEELTELKDE 490 500 510 520 530 540 ISLYESAAKL GIHPSDSEGE LNIELTESYV DLGIKKVNWK KSKVTSIVQE EDPNEELSKD 550 560 570 580 590 600 EFILKLKAEV QRLLGSNSMK RHLVSQLQND LKDCHKKIED LHQVKKDEKS IEVETKTDTS 610 620 630 640 650 660 EKPKNQLWPE SSTSDVVRDD ILLLKNEIQV LQQQNQELKE TEGKLRNTNQ DLCNQMRQMV 670 680 690 700 710 720 QDFDHDKQEA VDRCERTYQQ HHEAMKTQIR ESLLAKHALE KQQLFEAYER THLQLRSELD 730 740 750 760 770 780 KLNKEVTAVQ ECYLEVCREK DNLELTLRKT TEKEQQTQEK IKEKLIQQLE KEWQSKLDQT 790 800 810 820 830 840 IKAMKKKTLD CGSQTDQVTT SDVISKKEMA IMIEEQKCTI QQNLEQEKDI AIKGAMKKLE 850 860 870 880 890 900 IELELKHCEN ITKQVEIAVQ NAHQRWLGEL PELAEYQALV KAEQKKWEEQ HEVSVNKRIS 910 920 930 940 950 960 FAVSEAKEKW KSELENMRKN ILPGKELEEK IHSLQKELEL KNEEVPVVIR AELAKARSEW 970 980 990 1000 1010 1020 NKEKQEEIHR IQEQNEQDYR QFLDDHRNKI NEVLAAAKED FMKQKTELLL QKETELQTCL 1030 1040 1050 1060 1070 1080 DQSRREWTMQ EAKRIQLEIY QYEEDILTVL GVLLSDTQKE HISDSEDKQL LEIMSTCSSK 1090 1100 1110 1120 1130 1140 WMSVQYFEKL KGCIQKAFQD TLPLLVENAD PEWKKRNMAE LSKDSASQGT GQGDPGPAAG 1150 1160 1170 1180 1190 1200 HHAQPLALQA TEAEAEENNK VVEELIEENN DMKNKLEELQ TLCKTPPRSL SAGAIENACL 1210 1220 1230 1240 1250 1260 PCSGGALEEL RGQYIKAVKK IKCDMLRYIQ ESKERAAEMV KAEVLRERQE TARKMRKYYL 1270 1280 1290 1300 1310 1320 ICLQQILQDD GKEGAEKKIM NAASKLATMA KLLETPISSK SQSKTTQSAL PLTSEMLIAV 1330 1340 1350 1360 1370 1380 KKSKRNDVNQ KIPCCIESKS NSVNTITRTL CEQAPKRRAA CNLQRLLENS EHQSIKHVGS 1390 1400 1410 1420 1430 1440 KETHLEFQFG DGSCKHLNSL PRNVSPEFVP CEGEGGFGLH KKKDLLSDNG SESLPHSAAY 1450 1460 1470 1480 1490 1500 PFLGTLGNKP SPRCTPGPSE SGCMHITFRD SNERLGLKVY KCNPLMESEN AASEKSQGLD 1510 1520 1530 1540 1550 1560 VQEPPVKDGG DLSDCLGWPS SSATLSFDSR EASFVHGRPQ GTLEIPSESV KSKQFSPSGY 1570 1580 1590 1600 1610 1620 LSDTEESNMI CQTMKCQRYQ TPYLSEETTY LEPGKISVNC GHPSRHKADR LKSDFKKLSS 1630 1640 1650 TLPSSVCQQP SRKLIVPLSS QQDSGFDSPF VNLD
	Isoform 1 [UniParc]. Checksum: D1E91CED05D5E054	FASTA	1,275	147,345
	10 20 30 40 50 60 MSLDFGSVAL PVQNEDEEYD EEDYEREKEL QQLLTDLPHD MLDDDLSSPE LQYSDCSEDG 70 80 90 100 110 120 TDGQPHHPEQ LEMSWNEQML PKSQSVNGPS CQGLEPYNKV TYKPYQSSAQ NNGSPAQEIT 130 140 150 160 170 180 GSDTFEGLQQ QFLGANENSA ENMQIIQLQV LNKAKERQLE NLIEKLNESE RQIRYLNHQL 190 200 210 220 230 240 VIIKDEKDGL TLSLRESQKL FQNGKEREIQ LEAQIKALET QIQALKVNEE QMIKKSRTTE 250 260 270 280 290 300 MALESLKQQL VDLHHSESLQ RAREQHESIV MGLTKKYEEQ VLSLQKNLDA TVTALKEQED 310 320 330 340 350 360 ICSRLKDHVK QLERNQEAIK LEKTEIINKL TRSLEESQKQ CAHLLQSGSV QEVAQLQFQL 370 380 390 400 410 420 QQAQKAHAMS ANMNKALQEE LTELKDEISL YESAAKLGIH PSDSEGELNI ELTESYVDLG 430 440 450 460 470 480 IKKVNWKKSK VTSIVQEEDP NEELSKDEFI LKLKAEVQRL LGSNSMKRHL VSQLQNDLKD 490 500 510 520 530 540 CHKKIEDLHQ VKKDEKSIEV ETKTDTSEKP KNQLWPESST SDVVRDDILL LKNEIQVLQQ 550 560 570 580 590 600 QNQELKETEG KLRNTNQDLC NQMRQMVQDF DHDKQEAVDR CERTYQQHHE AMKTQIRESL 610 620 630 640 650 660 LAKHALEKQQ LFEAYERTHL QLRSELDKLN KEVTAVQECY LEVCREKDNL ELTLRKTTEK 670 680 690 700 710 720 EQQTQEKIKE KLIQQLEKEW QSKLDQTIKA MKKKTLDCGS QTDQVTTSDV ISKKEMAIMI 730 740 750 760 770 780 EEQKCTIQQN LEQEKDIAIK GAMKKLEIEL ELKHCENITK QVEIAVQNAH QRWLGELPEL 790 800 810 820 830 840 AEYQALVKAE QKKWEEQHEV SVNKRISFAV SEAKEKWKSE LENMRKNILP GKELEEKIHS 850 860 870 880 890 900 LQKELELKNE EVPVVIRAEL AKARSEWNKE KQEEIHRIQE QNEQDYRQFL DDHRNKINEV 910 920 930 940 950 960 LAAAKEDFMK QKTELLLQKE TELQTCLDQS RREWTMQEAK RIQLEIYQYE EDILTVLGVL 970 980 990 1000 1010 1020 LSDTQKEHIS DSEDKQLLEI MSTCSSKWMS VQYFEKLKGC IQKAFQDTLP LLVENADPEW 1030 1040 1050 1060 1070 1080 KKRNMAELSK DSASQGTGQG DPGPAAGHHA QPLALQATEA EADKKKVLEI KDLCCGHCFQ 1090 1100 1110 1120 1130 1140 ELEKAKQECQ DLKGKLEKCC RHLQHLERKH KAVVEKIGEE NNKVVEELIE ENNDMKNKLE 1150 1160 1170 1180 1190 1200 ELQTLCKTPP RSLSAGAIEN ACLPCSGGAL EELRGQYIKA VKKIKCDMLR YIQESKERAA 1210 1220 1230 1240 1250 1260 EMVKAEVLRE RQETARKMRK YYLICLQQIL QDDGKEGAEK KIMNAASKLA TMAKLLETPI 1270 SSKSQSKTTQ SGMSK
	Isoform 2 [UniParc]. Checksum: 03F71584CB87AB49	FASTA	1,368	158,079
	10 20 30 40 50 60 MSLDFGSVAL PVQNEDEEYD EEDYEREKEL QQLLTDLPHD MLDDDLSSPE LQYSDCSEDG 70 80 90 100 110 120 TDGQPHHPEQ LEMSWNEQML PKSQSVNGYN EIQSLYAGEK CGNVWEENRS KTEDRHPVYH 130 140 150 160 170 180 PEEGGDEGGS GYSPPSKCEQ TDLYHLPENF RPYTNGQKQE FNNQATNVIK FSDPQWNHFQ 190 200 210 220 230 240 GPSCQGLEPY NKVTYKPYQS SAQNNGSPAQ EITGSDTFEG LQQQFLGANE NSAENMQIIQ 250 260 270 280 290 300 LQVLNKAKER QLENLIEKLN ESERQIRYLN HQLVIIKDEK DGLTLSLRES QKLFQNGKER 310 320 330 340 350 360 EIQLEAQIKA LETQIQALKV NEEQMIKKSR TTEMALESLK QQLVDLHHSE SLQRAREQHE 370 380 390 400 410 420 SIVMGLTKKY EEQVLSLQKN LDATVTALKE QEDICSRLKD HVKQLERNQE AIKLEKTEII 430 440 450 460 470 480 NKLTRSLEES QKQCAHLLQS GSVQEVAQLQ FQLQQAQKAH AMSANMNKAL QEELTELKDE 490 500 510 520 530 540 ISLYESAAKL GIHPSDSEGE LNIELTESYV DLGIKKVNWK KSKVTSIVQE EDPNEELSKD 550 560 570 580 590 600 EFILKLKAEV QRLLGSNSMK RHLVSQLQND LKDCHKKIED LHQVKKDEKS IEVETKTDTS 610 620 630 640 650 660 EKPKNQLWPE SSTSDVVRDD ILLLKNEIQV LQQQNQELKE TEGKLRNTNQ DLCNQMRQMV 670 680 690 700 710 720 QDFDHDKQEA VDRCERTYQQ HHEAMKTQIR ESLLAKHALE KQQLFEAYER THLQLRSELD 730 740 750 760 770 780 KLNKEVTAVQ ECYLEVCREK DNLELTLRKT TEKEQQTQEK IKEKLIQQLE KEWQSKLDQT 790 800 810 820 830 840 IKAMKKKTLD CGSQTDQVTT SDVISKKEMA IMIEEQKCTI QQNLEQEKDI AIKGAMKKLE 850 860 870 880 890 900 IELELKHCEN ITKQVEIAVQ NAHQRWLGEL PELAEYQALV KAEQKKWEEQ HEVSVNKRIS 910 920 930 940 950 960 FAVSEAKEKW KSELENMRKN ILPGKELEEK IHSLQKELEL KNEEVPVVIR AELAKARSEW 970 980 990 1000 1010 1020 NKEKQEEIHR IQEQNEQDYR QFLDDHRNKI NEVLAAAKED FMKQKTELLL QKETELQTCL 1030 1040 1050 1060 1070 1080 DQSRREWTMQ EAKRIQLEIY QYEEDILTVL GVLLSDTQKE HISDSEDKQL LEIMSTCSSK 1090 1100 1110 1120 1130 1140 WMSVQYFEKL KGCIQKAFQD TLPLLVENAD PEWKKRNMAE LSKDSASQGT GQGDPGPAAG 1150 1160 1170 1180 1190 1200 HHAQPLALQA TEAEADKKKV LEIKDLCCGH CFQELEKAKQ ECQDLKGKLE KCCRHLQHLE 1210 1220 1230 1240 1250 1260 RKHKAVVEKI GEENNKVVEE LIEENNDMKN KLEELQTLCK TPPRSLSAGA IENACLPCSG 1270 1280 1290 1300 1310 1320 GALEELRGQY IKAVKKIKCD MLRYIQESKE RAAEMVKAEV LRERQETARK MRKYYLICLQ 1330 1340 1350 1360 QILQDDGKEG AEKKIMNAAS KLATMAKLLE TPISSKSQSK TTQSGMSK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:355-364(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[2]	"Analysis of the DNA sequence and duplication history of human chromosome 15." Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C. Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Heart, Lung and Testis.
[4]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[5]	"Cep152 acts as a scaffold for recruitment of Plk4 and CPAP to the centrosome." Cizmecioglu O., Arnold M., Bahtz R., Settele F., Ehret L., Haselmann-Weiss U., Antony C., Hoffmann I. J. Cell Biol. 191:731-739(2010) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH PLK4.
[6]	"Asterless is a scaffold for the onset of centriole assembly." Dzhindzhev N.S., Yu Q.D., Weiskopf K., Tzolovsky G., Cunha-Ferreira I., Riparbelli M., Rodrigues-Martins A., Bettencourt-Dias M., Callaini G., Glover D.M. Nature 467:714-718(2010) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH PLK4 AND CENPJ.
[7]	"CEP152 is a genome maintenance protein disrupted in Seckel syndrome." Kalay E., Yigit G., Aslan Y., Brown K.E., Pohl E., Bicknell L.S., Kayserili H., Li Y., Tuysuz B., Nurnberg G., Kiess W., Koegl M., Baessmann I., Buruk K., Toraman B., Kayipmaz S., Kul S., Ikbal M. , Turner D.J., Taylor M.S., Aerts J., Scott C., Milstein K., Dollfus H., Wieczorek D., Brunner H.G., Hurles M., Jackson A.P., Rauch A., Nurnberg P., Karaguzel A., Wollnik B. Nat. Genet. 43:23-26(2011) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH CINP, VARIANT SCKL5 ARG-667.
[8]	"A primary microcephaly protein complex forms a ring around parental centrioles." Sir J.H., Barr A.R., Nicholas A.K., Carvalho O.P., Khurshid M., Sossick A., Reichelt S., D'Santos C., Woods C.G., Gergely F. Nat. Genet. 43:1147-1153(2011) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH CEP63, SUBCELLULAR LOCATION.
[9]	"Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4." Guernsey D.L., Jiang H., Hussin J., Arnold M., Bouyakdan K., Perry S., Babineau-Sturk T., Beis J., Dumas N., Evans S.C., Ferguson M., Matsuoka M., Macgillivray C., Nightingale M., Patry L., Rideout A.L., Thomas A., Orr A. , Hoffmann I., Michaud J.L., Awadalla P., Meek D.C., Ludman M., Samuels M.E. Am. J. Hum. Genet. 87:40-51(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MCPH9 PRO-265, SUBCELLULAR LOCATION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB020719 mRNA. Translation: BAA74935.1. Different initiation. AC012379 Genomic DNA. No translation available. AC022084 Genomic DNA. No translation available. AC084757 Genomic DNA. No translation available. BC069186 mRNA. Translation: AAH69186.1. Sequence problems. BC117182 mRNA. Translation: AAI17183.1.
IPI	IPI00016653. IPI00477050. IPI00872707.
RefSeq	NP_055800.2. NM_014985.3.
UniGene	Hs.443005. Hs.597323.
3D structure databases
ProteinModelPortal	O94986.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-31701N.
IntAct	O94986. 5 interactions.
MINT	MINT-7034544.
STRING	9606.ENSP00000382271.
PTM databases
PhosphoSite	O94986.
Proteomic databases
PaxDb	O94986.
PRIDE	O94986.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000325747; ENSP00000321000; ENSG00000103995. ENST00000399334; ENSP00000382271; ENSG00000103995.
GeneID	22995.
KEGG	hsa:22995.
UCSC	uc001zwy.3. human. uc001zxa.2. human.
Organism-specific databases
CTD	22995.
GeneCards	GC15M049005.
HGNC	HGNC:29298. CEP152.
HPA	HPA039408.
MIM	613529. gene. 613823. phenotype. 614852. phenotype.
neXtProt	NX_O94986.
Orphanet	2512. Autosomal recessive primary microcephaly. 808. Seckel syndrome.
PharmGKB	PA142672126.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG140168.
HOGENOM	HOG000111522.
HOVERGEN	HBG096403.
KO	K16728.
OMA	DDHRNKI.
OrthoDB	EOG4FN4H4.
Enzyme and pathway databases
Reactome	REACT_115566. Cell Cycle.
Gene expression databases
ArrayExpress	O94986.
Bgee	O94986.
CleanEx	HS_CEP152.
Genevestigator	O94986.
GermOnline	ENSG00000103995. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
ChiTaRS	CEP152. human.
GenomeRNAi	22995.
NextBio	43860.
SOURCE	Search...

Entry information

Entry name

CE152_HUMAN

Accession

Primary (citable) accession number: O94986
Secondary accession number(s): Q17RV1, Q6NTA0

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 29, 2005
Last sequence update:	December 16, 2008
Last modified:	May 1, 2013
This is version 93 of the entry and version 3 of the sequence. [Complete history]

Entry status

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.