Q86XR8 (CEP57_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

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	500 AA.
Sequence status	Complete.
Protein existence	Evidence 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.9
Subunit structure	Homodimer and homooligomer. Interacts with microtubules. Interacts with FGF2 and RAP80. Does not interact with FGF1 or FGF2 isoform 24 kDa. Ref.1
Subcellular location	Nucleus By similarity. Cytoplasm. Cytoplasm › cytoskeleton › centrosome Ref.1 Ref.6.
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.7
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 component	Cytoplasm Cytoskeleton Microtubule Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
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 fibroblast growth factor receptor signaling pathway Inferred from physical interaction Ref.1. Source: UniProtKB microtubule anchoring Inferred from electronic annotation. Source: InterPro protein homooligomerization Inferred from electronic annotation. Source: Compara 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_component	Golgi apparatus Inferred from direct assay PubMed 10942595. Source: UniProtKB centrosome Inferred from direct assay Ref.6PubMed 21399614. Source: UniProtKB cytosol Traceable author statement. Source: Reactome microtubule Inferred from direct assay Ref.1. Source: UniProtKB nucleus Inferred from sequence or structural similarity PubMed 12954732. Source: HGNC
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
MYC	P01106	3	EBI-308614,EBI-447544

Alternative products

This entry describes 4 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.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 500	500	Centrosomal protein of 57 kDa		PRO_0000189532
Regions
	Region	58 – 239	182	centrosome localization domain (CLD) By similarity
	Region	277 – 491	215	Mediates interaction with microtubules By similarity
	Coiled coil	63 – 242	180	Potential
	Coiled coil	392 – 492	101	Potential
	Compositional bias	260 – 265	6	Poly-Lys
Natural variations
	Alternative sequence	1 – 15	15	MAAAS…GSHLS → MLTRID in isoform 4.		VSP_037839
	Alternative sequence	270 – 295	26	Missing in isoform 2.		VSP_012262
	Alternative sequence	270	1	K → V in isoform 3.		VSP_012263
	Alternative sequence	271 – 500	230	Missing in isoform 3.		VSP_012264
	Alternative sequence	498 – 500	3	Missing in isoform 4.		VSP_037840
	Natural variant	448	1	R → G. Ref.1 Ref.4 Corresponds to variant rs644799 [ dbSNP | Ensembl ].		VAR_059839
Experimental info
	Sequence conflict	45	1	F → S in BAF83934. Ref.4
	Sequence conflict	182	1	V → A in BAG56806. Ref.4
	Sequence conflict	188	1	K → E in BAF83934. Ref.4
	Sequence conflict	468	1	L → Q in BAA07654. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 21, 2004. Version 2. Checksum: 88FC47E7B33CE328	FASTA	500	57,089
	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
	Isoform 2 [UniParc]. Checksum: FC5DCDF19948F496	FASTA	474	54,164
	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 KKKSKPPEKS TSPSHAVVAN VQLVLHLMKQ HSKALCNDRV 310 320 330 340 350 360 INSIPLAKQV SSRGGKSKKL SVTPPSSNGI NEELSEVLQT LQDEFGQMSF DHQQLAKLIQ 370 380 390 400 410 420 ESPTVELKDK LECELEALVG RMEAKANQIT KVRKYQAQLE KQKLEKQKKE LKATKKTLDE 430 440 450 460 470 ERNSSSRSGI TGTTNKKDFM KLRPGEKRRK NLQLLKDMQS IQNSLQSSSL CWDY
	Isoform 3 [UniParc]. Checksum: DA552E20AB2A6648	FASTA	270	31,147
	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 NRLIFEDKAT PCVPNARRIK KKKSKPPEKV
	Isoform 4 [UniParc]. Checksum: FF8621FE703DB0F6	FASTA	488	56,026
	10 20 30 40 50 60 MLTRIDNSFA EPSRSNGSMV RHSSSPYVVY PSDKPFLNSD LRRSPSKPTL AYPESNSRAI 70 80 90 100 110 120 FSALKNLQDK IRRLELERIQ AEESVKTLSR ETIEYKKVLD EQIQERENSK NEESKHNQEL 130 140 150 160 170 180 TSQLLAAENK CNLLEKQLEY MRNMIKHAEM ERTSVLEKQV SLERERQHDQ THVQSQLEKL 190 200 210 220 230 240 DLLEQEYNKL TTMQALAEKK MQELEAKLHE EEQERKRMQA KAAELQTGLE TNRLIFEDKA 250 260 270 280 290 300 TPCVPNARRI KKKKSKPPEK KSSRNYFGAQ PHYRLCLGDM PFVAGKSTSP SHAVVANVQL 310 320 330 340 350 360 VLHLMKQHSK ALCNDRVINS IPLAKQVSSR GGKSKKLSVT PPSSNGINEE LSEVLQTLQD 370 380 390 400 410 420 EFGQMSFDHQ QLAKLIQESP TVELKDKLEC ELEALVGRME AKANQITKVR KYQAQLEKQK 430 440 450 460 470 480 LEKQKKELKA TKKTLDEERN SSSRSGITGT TNKKDFMKLR PGEKRRKNLQ LLKDMQSIQN SLQSSSLC

References

	« Hide 'large scale' referencesShow '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. , 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]	"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.
[6]	"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: MASS SPECTROMETRY, SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS]. Tissue: Lymphoblast.
[7]	"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. , Wright M., Douglas J., Rahman N. Nat. Genet. 43:527-529(2011) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN MVA2.
[8]	"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].
[9]	"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. BC001233 mRNA. Translation: AAH01233.1. BC029385 mRNA. Translation: AAH29385.1. Sequence problems. BC039711 mRNA. Translation: AAH39711.1.
IPI	IPI00005700. IPI00465200. IPI00514128. IPI00943523.
RefSeq	NP_001230705.1. NM_001243776.1. NP_001230706.1. NM_001243777.1. NP_055494.2. NM_014679.4.
UniGene	Hs.101014.
3D structure databases
ProteinModelPortal	Q86XR8.
SMR	Q86XR8. Positions 76-101, 131-157.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q86XR8. 4 interactions.
STRING	9606.ENSP00000317902.
PTM databases
PhosphoSite	Q86XR8.
Polymorphism databases
DMDM	56748768.
Proteomic databases
PaxDb	Q86XR8.
PRIDE	Q86XR8.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000325486; ENSP00000317487; ENSG00000166037. ENST00000325542; ENSP00000317902; ENSG00000166037. ENST00000538658; ENSP00000445706; ENSG00000166037.
GeneID	9702.
KEGG	hsa:9702.
UCSC	uc001pfo.2. human. uc001pfp.2. human. uc001pfq.2. human.
Organism-specific databases
CTD	9702.
GeneCards	GC11P095523.
HGNC	HGNC:30794. CEP57.
HPA	HPA018315.
MIM	607951. gene. 614114. phenotype.
neXtProt	NX_Q86XR8.
Orphanet	1052. Mosaic variegated aneuploidy syndrome.
PharmGKB	PA142672123.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG19004.
HOVERGEN	HBG050917.
InParanoid	Q86XR8.
KO	K16762.
OMA	RERQHDQ.
OrthoDB	EOG46HGC1.
PhylomeDB	Q86XR8.
Enzyme and pathway databases
Reactome	REACT_115566. Cell Cycle.
Gene expression databases
ArrayExpress	Q86XR8.
Bgee	Q86XR8.
CleanEx	HS_CEP57.
Genevestigator	Q86XR8.
GermOnline	ENSG00000166037. Homo sapiens.
Family and domain databases
InterPro	IPR010597. Centrosomal_protein_57kDa. IPR025913. Cep57_CLD. IPR024957. Cep57_MT-bd_dom. [Graphical view]
PANTHER	PTHR19336. PTHR19336. 1 hit.
Pfam	PF14073. Cep57_CLD. 1 hit. PF06657. Cep57_MT_bd. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	9702.
NextBio	36461.
SOURCE	Search...

Entry information

Entry name

CEP57_HUMAN

Accession

Primary (citable) accession number: Q86XR8
Secondary accession number(s): A0PJH1 , A8K5D0, B4DDP5, Q14704, Q5JB46, Q8IXP0, Q9BVF9

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 21, 2004
Last sequence update:	December 21, 2004
Last modified:	May 1, 2013
This is version 86 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.