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Q66GS9 (CP135_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 97. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Centrosomal protein of 135 kDa

Short name=Cep135
Alternative name(s):
Centrosomal protein 4
Gene names
Name:CEP135
Synonyms:CEP4, KIAA0635
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1140 AA.
Sequence statusComplete.
Protein existenceEvidence 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

Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriole. 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 8, primary, autosomal recessive (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.

Binary interactions

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11401140Centrosomal protein of 135 kDa
PRO_0000089491

Regions

Coiled coil71 – 15282 Potential
Coiled coil195 – 420226 Potential
Coiled coil447 – 1039593 Potential
Coiled coil1069 – 111648 Potential

Natural variations

Alternative sequence234 – 24916IELRE…SVALD → VGFLFTCIVGIEIGML in isoform 2.
VSP_012743
Alternative sequence250 – 1140891Missing in isoform 2.
VSP_012744
Natural variant7691I → L.
Corresponds to variant rs3214045 [ dbSNP | Ensembl ].
VAR_057785

Experimental info

Sequence conflict3361V → L in BAA31610. Ref.4
Sequence conflict5091Q → R in AAH12003. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: AD56754BEBB3AA5B

FASTA1,140133,490
        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 

« Hide

Isoform 2 [UniParc].

Checksum: AF105D24D36AE103
Show »

FASTA24928,910

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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), 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.
RefSeqNP_079285.2. NM_025009.4.
UniGeneHs.518767.

3D structure databases

ProteinModelPortalQ66GS9.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115018. 7 interactions.
IntActQ66GS9. 9 interactions.
MINTMINT-1200560.
STRING9606.ENSP00000257287.

PTM databases

PhosphoSiteQ66GS9.

Polymorphism databases

DMDM296434460.

Proteomic databases

PaxDbQ66GS9.
PRIDEQ66GS9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000257287; ENSP00000257287; ENSG00000174799. [Q66GS9-1]
ENST00000422247; ENSP00000412799; ENSG00000174799. [Q66GS9-2]
GeneID9662.
KEGGhsa:9662.
UCSCuc003hbh.2. human. [Q66GS9-2]
uc003hbi.4. human. [Q66GS9-1]

Organism-specific databases

CTD9662.
GeneCardsGC04P056815.
H-InvDBHIX0019826.
HGNCHGNC:29086. CEP135.
MIM611423. gene.
614673. phenotype.
neXtProtNX_Q66GS9.
Orphanet2512. Autosomal recessive primary microcephaly.
PharmGKBPA128394551.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG149145.
HOGENOMHOG000060077.
HOVERGENHBG081318.
InParanoidQ66GS9.
KOK16461.
OMADKEFHSH.
OrthoDBEOG7KSX7N.
PhylomeDBQ66GS9.
TreeFamTF326518.

Enzyme and pathway databases

ReactomeREACT_115566. Cell Cycle.

Gene expression databases

BgeeQ66GS9.
CleanExHS_CEP135.
GenevestigatorQ66GS9.

Family and domain databases

ProtoNetSearch...

Other

GeneWikiCEP135.
GenomeRNAi9662.
NextBio36283.
PROQ66GS9.
SOURCESearch...

Entry information

Entry nameCP135_HUMAN
AccessionPrimary (citable) accession number: Q66GS9
Secondary accession number(s): B2RMY0 expand/collapse secondary AC list , O75130, Q58F25, Q9H8H7
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: May 18, 2010
Last modified: April 16, 2014
This is version 97 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM