| Tag | Content |
|---|---|
| Uniprot ID | Q569L8; E9QLP3; |
| Entrez ID | 219103 |
| Genbank protein ID | AAH92399.1 |
| Genbank nucleotide ID | NM_001014996.2 |
| Ensembl protein ID | ENSMUSP00000153013; ENSMUSP00000065949; |
| Ensembl nucleotide ID | ENSMUSG00000064128 |
| Gene name | Centromere protein J |
| Gene symbol | Cenpj |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | Plays an important role in cell division and centrosome function by participating in centriole duplication. 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. Required for centriole elongation and for STIL-mediated centriole amplification. 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. May be involved in the control of centriolar-microtubule growth by acting as a regulator of tubulin release (By similarity). |
| Sequence | MFLMPTSSEL NSGQNFLTQW MTSPSRAGVI LNRGFPILEA DDKQAATNVS TSFPAKATHF 60 SNSFSISSEE DSFHEEQKLE AGGPYKPWSE NPEAPPVFPS VRKEPIASRQ DAPGCQEDNN 120 NDLTPHLESE FKEVANKNPL FKKLEQLKEI QQKKQEQLKR QQLEQLQRLM EEQEKLLTMV 180 SAQHAFPGTL LPDDQSQKHR SPGDLTLPPH SYSNPTQENS CASNVLPDEQ SNFCRATQDS 240 VLTSKNASDL FYESQYQEAH VKRNDLKEES PAHPSGEGAL PRWEKKMGRS QEGKDVNLQK 300 CGDSSEVVNI DERPIKAAVR EKQQTFEDYL EEQIQLEERE LRQKQLQEAE GPLLAKTKPK 360 QPFLKRGEGL ARFTNAKSKF QKGKESKLAS TQSPSEDQPG SKVDRQHLQR KTALINKDLC 420 AETPTVKKDS KARPKAGFAS LRQKPKVTKT NMRESLSPPG LKVQTGKKRD GQFRHQVKGE 480 RNAHASNKEN VPACIKPWDA GCKMWSKTQG RERLPLSTGP VGCVVSRSPI RETDRETESS 540 LDFSLQKKLE IWEREKEKEN LELDEFLFLE RAADEISFSS NSSFVLRILE RDQQICDGHR 600 LSSTPVKAVQ QREAQQADPR GQSNCSEIPR YGVAHENESE CEAMLLSWGS GSPDGLRELS 660 CKRSMKAFQT STSEIQSQWD ARDDGVANSD SSTESEEQHD ITIKPSTEVG DRVFSNREDS 720 PQVCDAKGPI RDTGAQEDKW RDADLDLSDK ECSSDESVIV ESLNNKVLEP LRLPSSQAGS 780 KIDFDDERSW TDLEENPYEH GVIHREEAIY GTPQTQCHSK SEGCVLDKTI KRKIAPVKKG 840 EDFKCDRRIS PPPPSDLMVK FFPSLKPKPK LDSHLENESK LNLSQDQPPE FMVCFIGDSV 900 RSQVLREKVT ELESEIEKFK AENTSLAKLR IERESALEKL RKEIADFEQQ KARELARIEE 960 YRKEETRKLQ KERKVFEKYT AAARTFPDKK EREEIQALKQ QIADLQEDLK RKETKWSSTQ 1020 SRLRSQIEML VKENTDLREE IKVMERFRLD AWKRAEAMEN SPKACQYMMA TKKDESMNSS 1080 FQFQKSHVSS GVQVEKYKKK YLPAQGNLSR RIKSAPPRDL GSSDKGQAAL PREPLQQVNF 1140 PDLEYKNKEE KEEEIQGEIS HPDGKVEKIY KNGRRVVLFP NGTRKEVSAD GKSVTVTFFN 1200 GDVKQVMPDE RVVYYYAAAQ TTHTTYPEGL EVLHFSSGQI EKHFPDGRKE ITFPDQTIKT 1260 LFADGQEESI FPDGTIVRVQ RDGNKIIEFN NGQRELHTAQ FKRREYPDGT VKTVYANGHQ 1320 ETKYTSGRVR VKDKDGNVLM DTEM 1344 |
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.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | CENPJ | 613543 | E1BL95 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | CENPJ | 486055 | E2QWE2 | Canis lupus familiaris | Prediction | More>> | ||
| 1:1 ortholog | CENPJ | 102173755 | A0A452DQP9 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | CENPJ | 55835 | Q9HC77 | Homo sapiens | Publication | More>> | ||
| 1:1 ortholog | Cenpj | 219103 | Q569L8 | Mus musculus | Prediction | More>> | ||
| 1:1 ortholog | CENPJ | 467235 | H2Q7B0 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | CENPJ | I3LLB9 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | CENPJ | 100347150 | G1SSZ6 | Oryctolagus cuniculus | Prediction | More>> | ||
| 1:1 ortholog | Cenpj | D4A194 | Rattus norvegicus | Prediction | More>> | |||
| 1:1 ortholog | cenpj | 568957 | E7FCY1 | Danio rerio | Prediction | More>> |
| Gene symbol | Significant Variants/SNPS | Methods | PubMed ID |
|---|---|---|---|
| CENPJ | c.61T>C; p.V509A | WES and Sanger sequencing | 26449438 |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0003713 | transcription coactivator activity | ISO |
| GO:0003714 | transcription corepressor activity | IBA |
| GO:0005515 | protein binding | IPI |
| GO:0015631 | tubulin binding | ISO |
| GO:0019901 | protein kinase binding | ISO |
| GO:0019904 | protein domain specific binding | ISO |
| GO:0042802 | identical protein binding | ISO |
| GO:0043015 | gamma-tubulin binding | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0007099 | centriole replication | ISS |
| GO:0007099 | centriole replication | ISO |
| GO:0007224 | smoothened signaling pathway | IMP |
| GO:0030954 | astral microtubule nucleation | ISO |
| GO:0044458 | motile cilium assembly | IMP |
| GO:0046427 | positive regulation of receptor signaling pathway via JAK-STAT | ISO |
| GO:0046599 | regulation of centriole replication | ISS |
| GO:0046599 | regulation of centriole replication | ISO |
| GO:0046785 | microtubule polymerization | ISO |
| GO:0051298 | centrosome duplication | IMP |
| GO:0051301 | cell division | IEA |
| GO:0061511 | centriole elongation | ISS |
| GO:0061511 | centriole elongation | ISO |
| GO:0098534 | centriole assembly | IMP |
| GO:1902857 | positive regulation of non-motile cilium assembly | IMP |
| GO:1903087 | mitotic spindle pole body duplication | IMP |
| GO:1903507 | negative regulation of nucleic acid-templated transcription | IEA |
| GO:1903508 | positive regulation of nucleic acid-templated transcription | IEA |
| GO:1903724 | positive regulation of centriole elongation | ISS |
| GO:1903724 | positive regulation of centriole elongation | ISO |
| GO:1904951 | positive regulation of establishment of protein localization | ISS |
| GO:1904951 | positive regulation of establishment of protein localization | ISO |
| GO:1905515 | non-motile cilium assembly | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | IBA |
| GO:0005654 | nucleoplasm | ISO |
| GO:0005737 | cytoplasm | ISO |
| GO:0005813 | centrosome | ISO |
| GO:0005814 | centriole | ISS |
| GO:0005814 | centriole | ISO |
| GO:0005814 | centriole | IBA |
| GO:0005814 | centriole | IDA |
| GO:0005874 | microtubule | IEA |
| GO:0005886 | plasma membrane | ISO |
| GO:0036064 | ciliary basal body | IDA |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-1640170 | Cell Cycle | IEA |
| R-MMU-1852241 | Organelle biogenesis and maintenance | IEA |
| R-MMU-212436 | Generic Transcription Pathway | IEA |
| R-MMU-2565942 | Regulation of PLK1 Activity at G2/M Transition | IEA |
| R-MMU-3700989 | Transcriptional Regulation by TP53 | IEA |
| R-MMU-380259 | Loss of Nlp from mitotic centrosomes | IEA |
| R-MMU-380270 | Recruitment of mitotic centrosome proteins and complexes | IEA |
| R-MMU-380284 | Loss of proteins required for interphase microtubule organization from the centrosome | IEA |
| R-MMU-380287 | Centrosome maturation | IEA |
| R-MMU-380320 | Recruitment of NuMA to mitotic centrosomes | IEA |
| R-MMU-453274 | Mitotic G2-G2/M phases | IEA |
| R-MMU-5617833 | Cilium Assembly | IEA |
| R-MMU-5620912 | Anchoring of the basal body to the plasma membrane | IEA |
| R-MMU-6791312 | TP53 Regulates Transcription of Cell Cycle Genes | IEA |
| R-MMU-6804115 | TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain | IEA |
| R-MMU-68877 | Mitotic Prometaphase | IEA |
| R-MMU-68886 | M Phase | IEA |
| R-MMU-69275 | G2/M Transition | IEA |
| R-MMU-69278 | Cell Cycle, Mitotic | IEA |
| R-MMU-73857 | RNA Polymerase II Transcription | IEA |
| R-MMU-74160 | Gene expression (Transcription) | IEA |
| R-MMU-8854518 | AURKA Activation by TPX2 | IEA |
| Pfam ID | Pfam Term |
|---|---|
| PF07202 | Tcp10_C |