Q9HC77 (CENPJ_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Centromere protein J
Short name=CENP-J

Alternative name(s):
Centrosomal P4.1-associated protein
LAG-3-associated protein
LYST-interacting protein 1

Gene names

Name:	CENPJ
Synonyms:	CPAP, LAP, LIP1

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	1338 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Plays an important role in cell division and centrosome function by participating in centriole duplication. Inhibits microtubule nucleation from the centrosome. Ref.6 Ref.7 Ref.9
Subunit structure	Part of a ternary complex composed of SASS6, CENPJ and CEP350. Associated with the gamma-tubulin complex. Interacts with the head domain of EPB41. Interacts with LYST. Interacts with CEP152 (via C-terminus). Ref.1 Ref.5 Ref.8 Ref.11
Subcellular location	Cytoplasm › cytoskeleton › centrosome. Cytoplasm › cytoskeleton › centrosome › centriole. Note: Localized within the center of microtubule asters. During centriole biogenesis, it is concentrated within the proximal lumen of both parental centrioles and procentrioles. Ref.1 Ref.7 Ref.9
Post-translational modification	Phosphorylation at Ser-589 and Ser-595 by PLK2 is required for procentriole formation and centriole elongation. Phosphorylation by PLK2 oscillates during the cell cycle: it increases at G1/S transition and decreases during the exit from mitosis. Phosphorylation at Ser-595 is also mediated by PLK4 but is not a critical step in PLK4 function in procentriole assembly.
Involvement in disease	Microcephaly, primary, 6 (MCPH6) [MIM:608393]: 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.13 Seckel syndrome 4 (SCKL4) [MIM:613676]: 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.10
Sequence similarities	Belongs to the TCP10 family.
Sequence caution	The sequence AAH24209.3 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Cellular component	Cytoplasm Cytoskeleton Microtubule
Coding sequence diversity	Polymorphism
Disease	Disease mutation Dwarfism Mental retardation Primary microcephaly
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	G2/M transition of mitotic cell cycle Traceable author statement. Source: Reactome cell division Non-traceable author statement Ref.1. Source: UniProtKB centriole replication Inferred from mutant phenotype Ref.7. Source: UniProtKB microtubule nucleation Traceable author statement Ref.1. Source: UniProtKB microtubule polymerization Inferred from mutant phenotype Ref.6. Source: UniProtKB regulation of centriole replication Inferred from mutant phenotype Ref.9. Source: UniProtKB
Cellular_component	centriole Inferred from direct assay Ref.7Ref.9. Source: UniProtKB cytosol Traceable author statement. Source: Reactome gamma-tubulin small complex Non-traceable author statement Ref.1. Source: UniProtKB microtubule Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	tubulin binding Inferred from direct assay Ref.6. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
CIC	Q96RK0	2	EBI-946194,EBI-945857
GFI1B	Q5VTD9	2	EBI-946194,EBI-946212

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1338	1338	Centromere protein J		PRO_0000089480
Amino acid modifications
	Modified residue	589	1	Phosphoserine; by PLK2 Ref.9
	Modified residue	595	1	Phosphoserine; by PLK2 and PLK4 Ref.9
	Modified residue	759	1	Phosphoserine Ref.12
Natural variations
	Natural variant	21	1	M → V. Corresponds to variant rs35498994 [ dbSNP | Ensembl ].		VAR_032427
	Natural variant	55	1	P → A. Corresponds to variant rs17081389 [ dbSNP | Ensembl ].		VAR_032428
	Natural variant	63	1	D → H. Corresponds to variant rs7336216 [ dbSNP | Ensembl ].		VAR_032429
	Natural variant	85	1	P → T. Corresponds to variant rs9511510 [ dbSNP | Ensembl ].		VAR_032430
	Natural variant	151	1	E → G. Corresponds to variant rs34177811 [ dbSNP | Ensembl ].		VAR_032431
	Natural variant	879	1	S → A. Corresponds to variant rs17402892 [ dbSNP | Ensembl ].		VAR_032432
	Natural variant	1235	1	E → V in MCPH6. Ref.13		VAR_032433
Experimental info
	Mutagenesis	589	1	S → A: Abolishes phosphorylation by PLK2 and procentriole formation; when associated with A-595. Ref.9
	Mutagenesis	595	1	S → A: Abolishes phosphorylation by PLK2 and procentriole formation; when associated with A-589. Ref.9
	Sequence conflict	129	1	L → R in AAG21074. Ref.1
	Sequence conflict	1142	1	E → R in AAG49440. Ref.5
	Sequence conflict	1224	1	L → W in AAG49440. Ref.5
	Sequence conflict	1333	1	L → S in AAG21074. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q9HC77 [UniParc]. Last modified April 26, 2005. Version 2. Checksum: B4E6531B62A30F2D	FASTA	1,338	153,000
	10 20 30 40 50 60 MFLMPTSSEL NSGQNFLTQW MTNPSRAGVI LNRGFPILEA DKEKRAAVDI STSFPIKGTH 70 80 90 100 110 120 FSDSFSFINE EDSLLEEQKL ESNNPYKPQS DKSETHTAFP CIKKGPQVAA CHSAPGHQEE 130 140 150 160 170 180 NKNDFIPDLA SEFKEGAYKD PLFKKLEQLK EVQQKKQEQL KRQQLEQLQR LMEEQEKLLT 190 200 210 220 230 240 MVSGQCTLPG LSLLPDDQSQ KHRSPGNTTT GERATCCFPS YVYPDPTQEE TYPSNILSHE 250 260 270 280 290 300 QSNFCRTAHG DFVLTSKRAS PNLFSEAQYQ EAPVEKNNLK EENRNHPTGE SILCWEKVTE 310 320 330 340 350 360 QIQEANDKNL QKHDDSSEVA NIEERPIKAA IGERKQTFED YLEEQIQLEE QELKQKQLKE 370 380 390 400 410 420 AEGPLPIKAK PKQPFLKRGE GLARFTNAKS KFQKGKESKL VTNQSTSEDQ PLFKMDRQQL 430 440 450 460 470 480 QRKTALKNKE LCADNPILKK DSKARTKSGS VTLSQKPKML KCSNRKSLSP SGLKIQTGKK 490 500 510 520 530 540 CDGQFRDQIK FENKVTSNNK ENVTECPKPC DTGCTGWNKT QGKDRLPLST GPASRLAAKS 550 560 570 580 590 600 PIRETMKESE SSLDVSLQKK LETWEREKEK ENLELDEFLF LEQAADEISF SSNSSFVLKI 610 620 630 640 650 660 LERDQQICKG HRMSSTPVKA VPQKTNPADP ISHCNRSEDL DHTAREKESE CEVAPKQLHS 670 680 690 700 710 720 LSSADELREQ PCKIRKAVQK STSENQTEWN ARDDEGVPNS DSSTDSEEQL DVTIKPSTED 730 740 750 760 770 780 RERGISSRED SPQVCDDKGP FKDTRTQEDK RRDVDLDLSD KDYSSDESIM ESIKHKVSEP 790 800 810 820 830 840 SRSSSLSLSK MDFDDERTWT DLEENLCNHD VVLGNESTYG TPQTCYPNNE IGILDKTIKR 850 860 870 880 890 900 KIAPVKRGED LSKSRRSRSP PTSELMMKFF PSLKPKPKSD SHLGNELKLN ISQDQPPGDN 910 920 930 940 950 960 ARSQVLREKI IELETEIEKF KAENASLAKL RIERESALEK LRKEIADFEQ QKAKELARIE 970 980 990 1000 1010 1020 EFKKEEMRKL QKERKVFEKY TTAARTFPDK KEREEIQTLK QQIADLREDL KRKETKWSST 1030 1040 1050 1060 1070 1080 HSRLRSQIQM LVRENTDLRE EIKVMERFRL DAWKRAEAIE SSLEVEKKDK LANTSVRFQN 1090 1100 1110 1120 1130 1140 SQISSGTQVE KYKKNYLPMQ GNPPRRSKSA PPRDLGNLDK GQAASPREPL EPLNFPDPEY 1150 1160 1170 1180 1190 1200 KEEEEDQDIQ GEISHPDGKV EKVYKNGCRV ILFPNGTRKE VSADGKTITV TFFNGDVKQV 1210 1220 1230 1240 1250 1260 MPDQRVIYYY AAAQTTHTTY PEGLEVLHFS SGQIEKHYPD GRKEITFPDQ TVKNLFPDGQ 1270 1280 1290 1300 1310 1320 EESIFPDGTI VRVQRDGNKL IEFNNGQREL HTAQFKRREY PDGTVKTVYA NGHQETKYRS 1330 GRIRVKDKEG NVLMDTEL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Protein 4.1 R-135 interacts with a novel centrosomal protein (CPAP) which is associated with the gamma-tubulin complex." Hung L.-Y., Tang C.J., Tang T.K. Mol. Cell. Biol. 20:7813-7825(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, INTERACTION WITH EPB41.
[2]	"The DNA sequence and analysis of human chromosome 13." Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T. Nature 428:522-528(2004) [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]. Tissue: Muscle.
[4]	"LAP, a lymphocyte activation gene-3-associated protein that binds to a repeated EP motif in the intracellular region of LAG-3 may participate in the down-regulation of the CD3/TCR activation pathway." Andreae S., Triebel P.F. Submitted (NOV-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 967-1338.
[5]	"The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins." Tchernev V.T., Mansfield T.A., Giot L., Kumar A.M., Nandabalan K., Li Y., Mishra V.S., Detter J.C., Rothberg J.M., Wallace M.R., Southwick F.S., Kingsmore S.F. Mol. Med. 8:56-64(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1142-1338, INTERACTION WITH LYST.
[6]	"Identification of a novel microtubule-destabilizing motif in CPAP that binds to tubulin heterodimers and inhibits microtubule assembly." Hung L.-Y., Chen H.-L., Chang C.-W., Li B.-R., Tang T.K. Mol. Biol. Cell 15:2697-2706(2004) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION IN MICROTUBULE DESTABILIZATION.
[7]	"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.
[8]	"Role of CAP350 in centriolar tubule stability and centriole assembly." Le Clech M. PLoS ONE 3:E3855-E3855(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH SASS6 AND CEP350.
[9]	"PLK2 phosphorylation is critical for CPAP function in procentriole formation during the centrosome cycle." Chang J., Cizmecioglu O., Hoffmann I., Rhee K. EMBO J. 29:2395-2406(2010) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, PHOSPHORYLATION AT SER-589 AND SER-595, MUTAGENESIS OF SER-589 AND SER-595.
[10]	"Novel CENPJ mutation causes Seckel syndrome." Al-Dosari M.S., Shaheen R., Colak D., Alkuraya F.S. J. Med. Genet. 47:411-414(2010) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN SCKL4.
[11]	"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: INTERACTION WITH CEP152.
[12]	"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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-759, MASS SPECTROMETRY.
[13]	"A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size." Bond J., Roberts E., Springell K., Lizarraga S.B., Scott S., Higgins J., Hampshire D.J., Morrison E.E., Leal G.F., Silva E.O., Costa S.M.R., Baralle D., Raponi M., Karbani G., Rashid Y., Jafri H., Bennett C., Corry P., Walsh C.A., Woods C.G. Nat. Genet. 37:353-355(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MCPH6 VAL-1235.
[14]	Erratum Bond J., Roberts E., Springell K., Lizarraga S.B., Scott S., Higgins J., Hampshire D.J., Morrison E.E., Leal G.F., Silva E.O., Costa S.M.R., Baralle D., Raponi M., Karbani G., Rashid Y., Jafri H., Bennett C., Corry P., Walsh C.A., Woods C.G. Nat. Genet. 37:555-555(2005)
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF139625 mRNA. Translation: AAG21074.1. AL354798 Genomic DNA. Translation: CAI16635.1. BC024209 mRNA. Translation: AAH24209.3. Different initiation. BC113110 mRNA. Translation: AAI13111.1. BC113662 mRNA. Translation: AAI13663.1. BC113664 mRNA. Translation: AAI13665.1. AJ303006 mRNA. Translation: CAC80028.1. AF141337 mRNA. Translation: AAG49440.1.
IPI	IPI00043201.
RefSeq	NP_060921.3. NM_018451.4.
UniGene	Hs.513379. Hs.741581.
3D structure databases
ProteinModelPortal	Q9HC77.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-49904N.
IntAct	Q9HC77. 7 interactions.
STRING	9606.ENSP00000371308.
PTM databases
PhosphoSite	Q9HC77.
Polymorphism databases
DMDM	62899891.
Proteomic databases
PaxDb	Q9HC77.
PRIDE	Q9HC77.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000381884; ENSP00000371308; ENSG00000151849.
GeneID	55835.
KEGG	hsa:55835.
UCSC	uc001upt.4. human.
Organism-specific databases
CTD	55835.
GeneCards	GC13M025456.
HGNC	HGNC:17272. CENPJ.
MIM	608393. phenotype. 609279. gene. 613676. phenotype.
neXtProt	NX_Q9HC77.
Orphanet	2512. Autosomal recessive primary microcephaly. 808. Seckel syndrome.
PharmGKB	PA26403.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG83204.
HOGENOM	HOG000111541.
HOVERGEN	HBG050894.
InParanoid	Q9HC77.
KO	K11502.
OMA	DSPQVCD.
OrthoDB	EOG46143Q.
Enzyme and pathway databases
Reactome	REACT_115566. Cell Cycle.
Gene expression databases
ArrayExpress	Q9HC77.
Bgee	Q9HC77.
CleanEx	HS_CENPJ.
Genevestigator	Q9HC77.
GermOnline	ENSG00000151849. Homo sapiens.
Family and domain databases
InterPro	IPR009852. Tcp10_C_dom. IPR026581. TCP10_fam. [Graphical view]
PANTHER	PTHR10331. PTHR10331. 1 hit.
Pfam	PF07202. Tcp10_C. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	55835.
NextBio	61057.
SOURCE	Search...

Entry information

Entry name

CENPJ_HUMAN

Accession

Primary (citable) accession number: Q9HC77
Secondary accession number(s): Q2KHM6 , Q5T6R5, Q96KS5, Q9C067

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 26, 2005
Last sequence update:	April 26, 2005
Last modified:	May 1, 2013
This is version 95 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.