Q66GS9 (CP135_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Centrosomal protein of 135 kDa
Short name=Cep135

Alternative name(s):
Centrosomal protein 4

Gene names

Name:	CEP135
Synonyms:	CEP4, KIAA0635

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	1140 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Centrosomal protein involved in centriole biogenesis. Acts as a scaffolding protein during early centriole biogenesis. Also required for centriole-centriole cohesion during interphase by acting as a platform protein for CEP250 at the centriole. Ref.6 Ref.7
Subunit structure	Interacts with DCTN2 By similarity. Interacts with CEP250. Ref.7
Subcellular location	Cytoplasm › cytoskeleton › centrosome › centriole. Note: During centriole biogenesis, it is concentrated within the proximal lumen of both parental centrioles and procentrioles. Ref.5 Ref.6
Involvement in disease	Microcephaly, primary, 8 (MCPH8) [MIM:614673]: 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.8
Sequence similarities	Belongs to the CEP135/TSGA10 family.
Sequence caution	The sequence AAH12003.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence. The sequence BAA31610.2 differs from that shown. Reason: Intron retention.

Ontologies

Keywords
Cellular component	Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing Polymorphism
Disease	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 centriole replication Inferred from mutant phenotype Ref.6. Source: UniProtKB centriole-centriole cohesion Inferred from mutant phenotype Ref.7. Source: UniProtKB
Cellular_component	centriole Inferred from direct assay Ref.6. Source: UniProtKB cytosol Traceable author statement. Source: Reactome
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
WRAP73	Q9P2S5	2	EBI-1046993,EBI-1054904

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q66GS9-1)

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 2 (identifier: Q66GS9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     234-249: IELREREIERLSVALD → VGFLFTCIVGIEIGML
     250-1140: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1140	1140	Centrosomal protein of 135 kDa		PRO_0000089491
Regions
	Coiled coil	71 – 152	82	Potential
	Coiled coil	195 – 420	226	Potential
	Coiled coil	447 – 1039	593	Potential
	Coiled coil	1069 – 1116	48	Potential
Natural variations
	Alternative sequence	234 – 249	16	IELRE…SVALD → VGFLFTCIVGIEIGML in isoform 2.		VSP_012743
	Alternative sequence	250 – 1140	891	Missing in isoform 2.		VSP_012744
	Natural variant	769	1	I → L. Corresponds to variant rs3214045 [ dbSNP | Ensembl ].		VAR_057785
Experimental info
	Sequence conflict	336	1	V → L in BAA31610. Ref.4
	Sequence conflict	509	1	Q → R in AAH12003. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 2. Checksum: AD56754BEBB3AA5B	FASTA	1,140	133,490
	10 20 30 40 50 60 MTTAVERKYI NIRKRLDQLG YRQTLTVECL PLVEKLFSDL VHTTESLRQS KLSAVKAEKE 70 80 90 100 110 120 SANFDFVLEP YKLENARLSR ENNELYLELM KLREHSDQHV KELKTSLKKC ARETADLKFL 130 140 150 160 170 180 NNQYAHKLKL LEKESKAKNE RIQQLQEKNL HAVVQTPGGK KRSIAFRRQR MQIDEPVPPS 190 200 210 220 230 240 EVSSYPVPQP DDPYIADLLQ VADNRIQELQ QEVHQLQEKL AMMESGVRDY SKQIELRERE 250 260 270 280 290 300 IERLSVALDG GRSPDVLSLE SRNKTNEKLI AHLNIQVDFL QQANKDLEKR IRELMETKET 310 320 330 340 350 360 VTSEVVNLSN KNEKLCQELT EIDQLAQQLE RHKEEVLETA DKELGEAKKE IKRKLSEMQD 370 380 390 400 410 420 LEETMAKLQL ELNLCQKEKE RLSDELLVKS DLETVVHQLE QEKQRLSKKV ESFAVTERQL 430 440 450 460 470 480 TLEVERMRLE HGIKRRDRSP SRLDTFLKGI EEERDYYKKE LERLQHIIQR RSCSTSYSAR 490 500 510 520 530 540 EKSSIFRTPE KGDYNSEIHQ ITRERDELQR MLERFEKYME DIQSNVKLLT AERDKLSVLY 550 560 570 580 590 600 NEAQEELSAL RKESTQTTAP HNIVSLMEKE KELALSDLRR IMAEKEALRE KLEHIEEVSL 610 620 630 640 650 660 FGKSELEKTI EHLTCVNHQL ESEKYELKSK VLIMKETIES LENKLKVQAQ KFSHVAGDSS 670 680 690 700 710 720 HQKTEVNSLR IVNEQLQRSV DDYQHRLSIK RGELESAQAQ IKILEEKIDE LNLKMTSQDE 730 740 750 760 770 780 EAHVMKKTIG VIDKEKDFLQ ETVDEKTEKI ANLQENLANK EKAVAQMKIM ISECESSVNQ 790 800 810 820 830 840 LKETLVNRDR EINSLRRQLD AAHKELDEVG RSREIAFKEN RRLQDDLATM ARENQEISLE 850 860 870 880 890 900 LEAAVQEKEE MKSRVHKYIT EVSRWESLMA AKEKENQDLL DRFQMLHNRA EDWEVKAHQA 910 920 930 940 950 960 EGESSSVRLE LLSIDTERRH LRERVELLEK EIQEHINAHH AYESQISSMA KAMSRLEEEL 970 980 990 1000 1010 1020 RHQEDEKATV LNDLSSLREL CIKLDSGKDI MTQQLNSKNL EFERVVVELE NVKSESDLLK 1030 1040 1050 1060 1070 1080 KQLSNERHTV KNLESLLATN RDKEFHSHLT SHEKDTEIQL LKEKLTLSES KLTSQSRENT 1090 1100 1110 1120 1130 1140 MLRAKVAQLQ TDYDALKRQI STERYERERA IQEMRRHGLA TPPLSSTLRS PSHSPEHRNV
	Isoform 2 [UniParc]. Checksum: AF105D24D36AE103	FASTA	249	28,910
	10 20 30 40 50 60 MTTAVERKYI NIRKRLDQLG YRQTLTVECL PLVEKLFSDL VHTTESLRQS KLSAVKAEKE 70 80 90 100 110 120 SANFDFVLEP YKLENARLSR ENNELYLELM KLREHSDQHV KELKTSLKKC ARETADLKFL 130 140 150 160 170 180 NNQYAHKLKL LEKESKAKNE RIQQLQEKNL HAVVQTPGGK KRSIAFRRQR MQIDEPVPPS 190 200 210 220 230 240 EVSSYPVPQP DDPYIADLLQ VADNRIQELQ QEVHQLQEKL AMMESGVRDY SKQVGFLFTC IVGIEIGML

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Placenta.
[2]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [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 1). Tissue: Testis.
[4]	"Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:169-176(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 277-1140 (ISOFORM 1). Tissue: Brain.
[5]	"Proteomic characterization of the human centrosome by protein correlation profiling." Andersen J.S., Wilkinson C.J., Mayor T., Mortensen P., Nigg E.A., Mann M. Nature 426:570-574(2003) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION (ISOFORM 1), MASS SPECTROMETRY, SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS]. Tissue: Lymphoblast.
[6]	"Plk4-induced centriole biogenesis in human cells." Kleylein-Sohn J., Westendorf J., Le Clech M., Habedanck R., Stierhof Y.-D., Nigg E.A. Dev. Cell 13:190-202(2007) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION.
[7]	"A novel function of CEP135 as a platform protein of C-NAP1 for its centriolar localization." Kim K., Lee S., Chang J., Rhee K. Exp. Cell Res. 314:3692-3700(2008) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH CEP250.
[8]	"A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function." Hussain M.S., Baig S.M., Neumann S., Nurnberg G., Farooq M., Ahmad I., Alef T., Hennies H.C., Technau M., Altmuller J., Frommolt P., Thiele H., Noegel A.A., Nurnberg P. Am. J. Hum. Genet. 90:871-878(2012) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN MCPH8.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK023683 mRNA. No translation available. AC118280 Genomic DNA. No translation available. AC110611 Genomic DNA. No translation available. AC092627 Genomic DNA. No translation available. BC012003 mRNA. Translation: AAH12003.1. Sequence problems. BC136535 mRNA. Translation: AAI36536.1. BC136536 mRNA. Translation: AAI36537.1. AB014535 mRNA. Translation: BAA31610.2. Sequence problems. BK005586 mRNA. Translation: DAA05590.1.
IPI	IPI00017423. IPI00550987.
RefSeq	NP_079285.2. NM_025009.4.
UniGene	Hs.518767.
3D structure databases
ProteinModelPortal	Q66GS9.
SMR	Q66GS9. Positions 205-245.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q66GS9. 5 interactions.
MINT	MINT-1200560.
STRING	9606.ENSP00000257287.
PTM databases
PhosphoSite	Q66GS9.
Polymorphism databases
DMDM	296434460.
Proteomic databases
PaxDb	Q66GS9.
PRIDE	Q66GS9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000257287; ENSP00000257287; ENSG00000174799. ENST00000422247; ENSP00000412799; ENSG00000174799.
GeneID	9662.
KEGG	hsa:9662.
UCSC	uc003hbh.1. human. uc003hbi.3. human.
Organism-specific databases
CTD	9662.
GeneCards	GC04P056815.
H-InvDB	HIX0019826.
HGNC	HGNC:29086. CEP135.
MIM	611423. gene. 614673. phenotype.
neXtProt	NX_Q66GS9.
Orphanet	2512. Autosomal recessive primary microcephaly.
PharmGKB	PA128394551.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG149145.
HOGENOM	HOG000060077.
HOVERGEN	HBG081318.
InParanoid	Q66GS9.
KO	K16461.
OMA	DKEFHSH.
OrthoDB	EOG49P9XN.
Enzyme and pathway databases
Reactome	REACT_115566. Cell Cycle.
Gene expression databases
Bgee	Q66GS9.
CleanEx	HS_CEP135.
Genevestigator	Q66GS9.
GermOnline	ENSG00000174799. Homo sapiens.
Family and domain databases
InterPro	IPR026732. Cep135. [Graphical view]
PANTHER	PTHR23159:SF3. PTHR23159:SF3. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	9662.
NextBio	36283.
SOURCE	Search...

Entry information

Entry name

CP135_HUMAN

Accession

Primary (citable) accession number: Q66GS9
Secondary accession number(s): B2RMY0 , O75130, Q58F25, Q9H8H7

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 2005
Last sequence update:	May 18, 2010
Last modified:	May 1, 2013
This is version 88 of the entry and version 2 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.