Gene: CENPJ

Basic information

Tag Content
Uniprot ID Q9HC77; Q2KHM6; Q5JPD5; Q5T6R5; Q96KS5; Q9C067;
Entrez ID 55835
Genbank protein ID AAH24209.3; AAI13665.1; AAG21074.1; AAG49440.1; CAC80028.1; AAI13111.1; EAX08354.1; CAI46195.1; AAI13663.1;
Genbank nucleotide ID NM_018451.4
Ensembl protein ID ENSP00000477511; ENSP00000371308;
Ensembl nucleotide ID ENSG00000151849
Gene name Centromere protein J
Gene symbol CENPJ
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Manually collected
Reference 26449438
Functional description Plays an important role in cell division and centrosome function by participating in centriole duplication (PubMed:17681131, PubMed:20531387). Inhibits microtubule nucleation from the centrosome. Involved in the regulation of slow processive growth of centriolar microtubules. Acts as microtubule plus-end tracking protein that stabilizes centriolar microtubules and inhibits microtubule polymerization and extension from the distal ends of centrioles (PubMed:15047868, PubMed:27219064, PubMed:27306797). Required for centriole elongation and for STIL-mediated centriole amplification (PubMed:22020124). Required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early S phase in a PLK4-dependent manner (PubMed:27185865). May be involved in the control of centriolar-microtubule growth by acting as a regulator of tubulin release (PubMed:27306797).
Sequence
MFLMPTSSEL NSGQNFLTQW MTNPSRAGVI LNRGFPILEA DKEKRAAVDI STSFPIKGTH 60
FSDSFSFINE EDSLLEEQKL ESNNPYKPQS DKSETHTAFP CIKKGPQVAA CHSAPGHQEE 120
NKNDFIPDLA SEFKEGAYKD PLFKKLEQLK EVQQKKQEQL KRQQLEQLQR LMEEQEKLLT 180
MVSGQCTLPG LSLLPDDQSQ KHRSPGNTTT GERATCCFPS YVYPDPTQEE TYPSNILSHE 240
QSNFCRTAHG DFVLTSKRAS PNLFSEAQYQ EAPVEKNNLK EENRNHPTGE SILCWEKVTE 300
QIQEANDKNL QKHDDSSEVA NIEERPIKAA IGERKQTFED YLEEQIQLEE QELKQKQLKE 360
AEGPLPIKAK PKQPFLKRGE GLARFTNAKS KFQKGKESKL VTNQSTSEDQ PLFKMDRQQL 420
QRKTALKNKE LCADNPILKK DSKARTKSGS VTLSQKPKML KCSNRKSLSP SGLKIQTGKK 480
CDGQFRDQIK FENKVTSNNK ENVTECPKPC DTGCTGWNKT QGKDRLPLST GPASRLAAKS 540
PIRETMKESE SSLDVSLQKK LETWEREKEK ENLELDEFLF LEQAADEISF SSNSSFVLKI 600
LERDQQICKG HRMSSTPVKA VPQKTNPADP ISHCNRSEDL DHTAREKESE CEVAPKQLHS 660
LSSADELREQ PCKIRKAVQK STSENQTEWN ARDDEGVPNS DSSTDSEEQL DVTIKPSTED 720
RERGISSRED SPQVCDDKGP FKDTRTQEDK RRDVDLDLSD KDYSSDESIM ESIKHKVSEP 780
SRSSSLSLSK MDFDDERTWT DLEENLCNHD VVLGNESTYG TPQTCYPNNE IGILDKTIKR 840
KIAPVKRGED LSKSRRSRSP PTSELMMKFF PSLKPKPKSD SHLGNELKLN ISQDQPPGDN 900
ARSQVLREKI IELETEIEKF KAENASLAKL RIERESALEK LRKEIADFEQ QKAKELARIE 960
EFKKEEMRKL QKERKVFEKY TTAARTFPDK KEREEIQTLK QQIADLREDL KRKETKWSST 1020
HSRLRSQIQM LVRENTDLRE EIKVMERFRL DAWKRAEAIE SSLEVEKKDK LANTSVRFQN 1080
SQISSGTQVE KYKKNYLPMQ GNPPRRSKSA PPRDLGNLDK GQAASPREPL EPLNFPDPEY 1140
KEEEEDQDIQ GEISHPDGKV EKVYKNGCRV ILFPNGTRKE VSADGKTITV TFFNGDVKQV 1200
MPDQRVIYYY AAAQTTHTTY PEGLEVLHFS SGQIEKHYPD GRKEITFPDQ TVKNLFPDGQ 1260
EESIFPDGTI VRVQRDGNKL IEFNNGQREL HTAQFKRREY PDGTVKTVYA NGHQETKYRS 1320
GRIRVKDKEG NVLMDTEL 1338

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database


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Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologCENPJ613543E1BL95Bos taurusPredictionMore>>
1:1 orthologCENPJ486055E2QWE2Canis lupus familiarisPredictionMore>>
1:1 orthologCENPJ102173755A0A452DQP9Capra hircusPredictionMore>>
1:1 orthologCENPJ55835Q9HC77Homo sapiensPublicationMore>>
1:1 orthologCenpj219103Q569L8Mus musculusPredictionMore>>
1:1 orthologCENPJ467235H2Q7B0Pan troglodytesPredictionMore>>
1:1 orthologCENPJI3LLB9Sus scrofaPredictionMore>>
1:1 orthologCENPJ100347150G1SSZ6Oryctolagus cuniculusPredictionMore>>
1:1 orthologCenpjD4A194Rattus norvegicusPredictionMore>>
1:1 orthologcenpj568957E7FCY1Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
CENPJc.61T>C; p.V509AWES and Sanger sequencing26449438

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003713 transcription coactivator activityIDA
GO:0003714 transcription corepressor activityIBA
GO:0005515 protein bindingIPI
GO:0015631 tubulin bindingIDA
GO:0019901 protein kinase bindingIPI
GO:0019904 protein domain specific bindingIPI
GO:0042802 identical protein bindingIPI
GO:0043015 gamma-tubulin bindingIDA

GO:Biological Process

GO ID GO Term Evidence
GO:0000086 G2/M transition of mitotic cell cycleTAS
GO:0007020 microtubule nucleationTAS
GO:0007099 centriole replicationIMP
GO:0007224 smoothened signaling pathwayIEA
GO:0010389 regulation of G2/M transition of mitotic cell cycleTAS
GO:0030954 astral microtubule nucleationIDA
GO:0044458 motile cilium assemblyIEA
GO:0046427 positive regulation of receptor signaling pathway via JAK-STATIDA
GO:0046599 regulation of centriole replicationIMP
GO:0046785 microtubule polymerizationIMP
GO:0051301 cell divisionNAS
GO:0061511 centriole elongationIDA
GO:0097711 ciliary basal body-plasma membrane dockingTAS
GO:1902857 positive regulation of non-motile cilium assemblyIEA
GO:1903507 negative regulation of nucleic acid-templated transcriptionIEA
GO:1903508 positive regulation of nucleic acid-templated transcriptionIEA
GO:1903724 positive regulation of centriole elongationIMP
GO:1904951 positive regulation of establishment of protein localizationIMP
GO:1905515 non-motile cilium assemblyIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusIBA
GO:0005654 nucleoplasmIDA
GO:0005737 cytoplasmIDA
GO:0005813 centrosomeIDA
GO:0005814 centrioleIDA
GO:0005814 centrioleIBA
GO:0005829 cytosolTAS
GO:0005874 microtubuleIEA
GO:0005886 plasma membraneIDA
GO:0008275 gamma-tubulin small complexNAS
GO:0036064 ciliary basal bodyIEA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-1640170 Cell CycleTAS
R-HSA-1852241 Organelle biogenesis and maintenanceTAS
R-HSA-212436 Generic Transcription PathwayTAS
R-HSA-2565942 Regulation of PLK1 Activity at G2/M TransitionTAS
R-HSA-3700989 Transcriptional Regulation by TP53TAS
R-HSA-380259 Loss of Nlp from mitotic centrosomesTAS
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexesTAS
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosomeTAS
R-HSA-380287 Centrosome maturationTAS
R-HSA-380320 Recruitment of NuMA to mitotic centrosomesTAS
R-HSA-453274 Mitotic G2-G2/M phasesTAS
R-HSA-5617833 Cilium AssemblyTAS
R-HSA-5620912 Anchoring of the basal body to the plasma membraneTAS
R-HSA-6791312 TP53 Regulates Transcription of Cell Cycle GenesTAS
R-HSA-6804115 TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertainTAS
R-HSA-68877 Mitotic PrometaphaseTAS
R-HSA-68886 M PhaseTAS
R-HSA-69275 G2/M TransitionTAS
R-HSA-69278 Cell Cycle, MitoticTAS
R-HSA-73857 RNA Polymerase II TranscriptionTAS
R-HSA-74160 Gene expression (Transcription)TAS
R-HSA-8854518 AURKA Activation by TPX2TAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0025 Alternative splicing
KW-0963 Cytoplasm
KW-0206 Cytoskeleton
KW-0225 Disease mutation
KW-0242 Dwarfism
KW-0991 Mental retardation
KW-0493 Microtubule
KW-0597 Phosphoprotein
KW-0621 Polymorphism
KW-0905 Primary microcephaly
KW-1185 Reference proteome

Interpro

InterPro ID InterPro Term
IPR033068 CENP-J
IPR009852 Tcp10_C_dom
IPR026581 TCP10_fam

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term
PF07202 Tcp10_C

Protein-protein interaction

Protein-miRNA interaction