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Q86XR8 (CEP57_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 100. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Centrosomal protein of 57 kDa

Short name=Cep57
Alternative name(s):
FGF2-interacting protein
Testis-specific protein 57
Translokin
Gene names
Name:CEP57
Synonyms:KIAA0092, TSP57
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length500 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Centrosomal protein which may be required for microtubule attachment to centrosomes. May act by forming ring-like structures around microtubules. Mediates nuclear translocation and mitogenic activity of the internalized growth factor FGF2, but that of FGF1. Ref.10

Subunit structure

Homodimer and homooligomer. Interacts with microtubules. Interacts with FGF2 and RAP80. Does not interact with FGF1 or FGF2 isoform 24kDa. Ref.1

Subcellular location

Nucleus By similarity. Cytoplasm. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome Ref.1 Ref.7.

Tissue specificity

Ubiquitous. Ref.1

Domain

The C-terminal region mediates the interaction with microtubules and is able to nucleate and bundles microtubules in vitro By similarity.

The centrosome localization domain (CLD) region mediates the localization to centrosomes and homooligomerization By similarity.

Involvement in disease

Mosaic variegated aneuploidy syndrome 2 (MVA2) [MIM:614114]: A severe developmental disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

Sequence similarities

Belongs to the translokin family.

Sequence caution

The sequence AAH29385.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

The sequence BAA07654.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
   Cellular componentCytoplasm
Cytoskeleton
Microtubule
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processG2/M transition of mitotic cell cycle

Traceable author statement. Source: Reactome

fibroblast growth factor receptor signaling pathway

Inferred from physical interaction Ref.1. Source: UniProtKB

microtubule anchoring

Inferred from electronic annotation. Source: InterPro

mitotic cell cycle

Traceable author statement. Source: Reactome

protein homooligomerization

Inferred from electronic annotation. Source: Ensembl

protein import into nucleus, translocation

Inferred from sequence or structural similarity Ref.1. Source: UniProtKB

spermatid development

Inferred from sequence or structural similarity PubMed 12954732. Source: HGNC

   Cellular_componentGolgi apparatus

Inferred from direct assay PubMed 10942595. Source: UniProtKB

centrosome

Inferred from direct assay Ref.7PubMed 21399614. Source: UniProtKB

cytoplasm

Inferred from direct assay. Source: HPA

cytosol

Traceable author statement. Source: Reactome

microtubule

Inferred from direct assay Ref.1. Source: UniProtKB

microtubule cytoskeleton

Inferred from direct assay. Source: HPA

nucleus

Inferred from sequence or structural similarity PubMed 12954732. Source: HGNC

   Molecular_functionfibroblast growth factor binding

Inferred from physical interaction Ref.1. Source: UniProtKB

protein binding

Inferred from physical interaction PubMed 20195357. Source: IntAct

protein homodimerization activity

Inferred from physical interaction Ref.1. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

MYCP011063EBI-308614,EBI-447544

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q86XR8-1)

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: Q86XR8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     270-295: Missing.
Isoform 3 (identifier: Q86XR8-3)

The sequence of this isoform differs from the canonical sequence as follows:
     270-270: K → V
     271-500: Missing.
Isoform 4 (identifier: Q86XR8-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-15: MAAASVSAASGSHLS → MLTRID
     498-500: Missing.
Note: No experimental confirmation available.
Isoform 5 (identifier: Q86XR8-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-15: MAAASVSAASGSHLS → MLTRID
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 500500Centrosomal protein of 57 kDa
PRO_0000189532

Regions

Region58 – 239182centrosome localization domain (CLD) By similarity
Region277 – 491215Mediates interaction with microtubules By similarity
Coiled coil63 – 242180 Potential
Coiled coil392 – 492101 Potential
Compositional bias260 – 2656Poly-Lys

Natural variations

Alternative sequence1 – 1515MAAAS…GSHLS → MLTRID in isoform 4 and isoform 5.
VSP_037839
Alternative sequence270 – 29526Missing in isoform 2.
VSP_012262
Alternative sequence2701K → V in isoform 3.
VSP_012263
Alternative sequence271 – 500230Missing in isoform 3.
VSP_012264
Alternative sequence498 – 5003Missing in isoform 4.
VSP_037840
Natural variant4481R → G. Ref.1 Ref.4
Corresponds to variant rs644799 [ dbSNP | Ensembl ].
VAR_059839

Experimental info

Sequence conflict451F → S in BAF83934. Ref.4
Sequence conflict1821V → A in BAG56806. Ref.4
Sequence conflict1881K → E in BAF83934. Ref.4
Sequence conflict4681L → Q in BAA07654. Ref.3

Secondary structure

..... 500
Helix Strand Turn

Details...

Sequences

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

Last modified December 21, 2004. Version 2.
Checksum: 88FC47E7B33CE328

FASTA50057,089
        10         20         30         40         50         60 
MAAASVSAAS GSHLSNSFAE PSRSNGSMVR HSSSPYVVYP SDKPFLNSDL RRSPSKPTLA 

        70         80         90        100        110        120 
YPESNSRAIF SALKNLQDKI RRLELERIQA EESVKTLSRE TIEYKKVLDE QIQERENSKN 

       130        140        150        160        170        180 
EESKHNQELT SQLLAAENKC NLLEKQLEYM RNMIKHAEME RTSVLEKQVS LERERQHDQT 

       190        200        210        220        230        240 
HVQSQLEKLD LLEQEYNKLT TMQALAEKKM QELEAKLHEE EQERKRMQAK AAELQTGLET 

       250        260        270        280        290        300 
NRLIFEDKAT PCVPNARRIK KKKSKPPEKK SSRNYFGAQP HYRLCLGDMP FVAGKSTSPS 

       310        320        330        340        350        360 
HAVVANVQLV LHLMKQHSKA LCNDRVINSI PLAKQVSSRG GKSKKLSVTP PSSNGINEEL 

       370        380        390        400        410        420 
SEVLQTLQDE FGQMSFDHQQ LAKLIQESPT VELKDKLECE LEALVGRMEA KANQITKVRK 

       430        440        450        460        470        480 
YQAQLEKQKL EKQKKELKAT KKTLDEERNS SSRSGITGTT NKKDFMKLRP GEKRRKNLQL 

       490        500 
LKDMQSIQNS LQSSSLCWDY 

« Hide

Isoform 2 [UniParc].

Checksum: FC5DCDF19948F496
Show »

FASTA47454,164
Isoform 3 [UniParc].

Checksum: DA552E20AB2A6648
Show »

FASTA27031,147
Isoform 4 [UniParc].

Checksum: FF8621FE703DB0F6
Show »

FASTA48856,026
Isoform 5 [UniParc].

Checksum: 5C5F2F4F8621FE70
Show »

FASTA49156,490

References

« Hide 'large scale' references
[1]"Translokin is an intracellular mediator of FGF-2 trafficking."
Bossard C., Laurell H., Van den Berghe L., Meunier S., Zanibellato C., Prats H.
Nat. Cell Biol. 5:433-439(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, SUBUNIT, INTERACTION WITH FGF2, VARIANT GLY-448.
Tissue: Placenta.
[2]Kim J.W.
Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]"Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1."
Nagase T., Miyajima N., Tanaka A., Sazuka T., Seki N., Sato S., Tabata S., Ishikawa K., Kawarabayasi Y., Kotani H., Nomura N.
DNA Res. 2:37-43(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Bone marrow.
[4]"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] (ISOFORMS 1 AND 4), VARIANT GLY-448.
Tissue: Teratocarcinoma.
[5]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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] (ISOFORMS 1 AND 3).
Tissue: Kidney, Mammary gland and Placenta.
[7]"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: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
Tissue: Lymphoblast.
[8]"Mutations in CEP57 cause mosaic variegated aneuploidy syndrome."
Snape K., Hanks S., Ruark E., Barros-Nunez P., Elliott A., Murray A., Lane A.H., Shannon N., Callier P., Chitayat D., Clayton-Smith J., Fitzpatrick D.R., Gisselsson D., Jacquemont S., Asakura-Hay K., Micale M.A., Tolmie J., Turnpenny P.D. expand/collapse author list , Wright M., Douglas J., Rahman N.
Nat. Genet. 43:527-529(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN MVA2.
[9]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]"Nuclear import of exogenous FGF1 requires the ER-protein LRRC59 and the importins Kpnalpha1 and Kpnbeta1."
Zhen Y., Sorensen V., Skjerpen C.S., Haugsten E.M., Jin Y., Walchli S., Olsnes S., Wiedlocha A.
Traffic 13:650-664(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY225092 mRNA. Translation: AAO73938.1.
AY239292 mRNA. Translation: AAP72184.1.
D42054 mRNA. Translation: BAA07654.2. Different initiation.
AK291245 mRNA. Translation: BAF83934.1.
AK293277 mRNA. Translation: BAG56806.1.
AP001877 Genomic DNA. No translation available.
BC001233 mRNA. Translation: AAH01233.1.
BC029385 mRNA. Translation: AAH29385.1. Sequence problems.
BC039711 mRNA. Translation: AAH39711.1.
CCDSCCDS58166.1. [Q86XR8-2]
CCDS58167.1. [Q86XR8-5]
CCDS8304.1. [Q86XR8-1]
RefSeqNP_001230705.1. NM_001243776.1. [Q86XR8-5]
NP_001230706.1. NM_001243777.1. [Q86XR8-2]
NP_055494.2. NM_014679.4. [Q86XR8-1]
UniGeneHs.101014.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
4L0RX-ray2.49A/B334-433[»]
ProteinModelPortalQ86XR8.
SMRQ86XR8. Positions 355-428.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115054. 7 interactions.
IntActQ86XR8. 8 interactions.
MINTMINT-4989031.
STRING9606.ENSP00000317902.

PTM databases

PhosphoSiteQ86XR8.

Polymorphism databases

DMDM56748768.

Proteomic databases

MaxQBQ86XR8.
PaxDbQ86XR8.
PRIDEQ86XR8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000325486; ENSP00000317487; ENSG00000166037. [Q86XR8-2]
ENST00000325542; ENSP00000317902; ENSG00000166037. [Q86XR8-1]
ENST00000538658; ENSP00000445706; ENSG00000166037. [Q86XR8-3]
ENST00000541150; ENSP00000443436; ENSG00000166037. [Q86XR8-5]
GeneID9702.
KEGGhsa:9702.
UCSCuc001pfo.2. human. [Q86XR8-3]
uc001pfp.2. human. [Q86XR8-1]
uc001pfq.2. human. [Q86XR8-2]

Organism-specific databases

CTD9702.
GeneCardsGC11P095523.
HGNCHGNC:30794. CEP57.
HPAHPA018315.
MIM607951. gene.
614114. phenotype.
neXtProtNX_Q86XR8.
Orphanet1052. Mosaic variegated aneuploidy syndrome.
PharmGKBPA142672123.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG19004.
HOVERGENHBG050917.
InParanoidQ86XR8.
KOK16762.
OMARERQHDQ.
PhylomeDBQ86XR8.
TreeFamTF329178.

Enzyme and pathway databases

ReactomeREACT_115566. Cell Cycle.

Gene expression databases

ArrayExpressQ86XR8.
BgeeQ86XR8.
CleanExHS_CEP57.
GenevestigatorQ86XR8.

Family and domain databases

InterProIPR010597. Centrosomal_protein_57kDa.
IPR025913. Cep57_CLD.
IPR024957. Cep57_MT-bd_dom.
[Graphical view]
PANTHERPTHR19336. PTHR19336. 1 hit.
PfamPF14073. Cep57_CLD. 1 hit.
PF06657. Cep57_MT_bd. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCEP57.
GenomeRNAi9702.
NextBio36461.
PROQ86XR8.
SOURCESearch...

Entry information

Entry nameCEP57_HUMAN
AccessionPrimary (citable) accession number: Q86XR8
Secondary accession number(s): A0PJH1 expand/collapse secondary AC list , A8K5D0, B4DDP5, F5H5F7, Q14704, Q5JB46, Q8IXP0, Q9BVF9
Entry history
Integrated into UniProtKB/Swiss-Prot: December 21, 2004
Last sequence update: December 21, 2004
Last modified: July 9, 2014
This is version 100 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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

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 11

Human chromosome 11: entries, gene names and cross-references to MIM