| Tag | Content |
|---|---|
| Uniprot ID | O35691; Q8CD89; Q8CGU3; |
| Entrez ID | 18949 |
| Genbank protein ID | BAC27200.1; CAA69960.1; AAN05017.1; |
| Genbank nucleotide ID | NM_008891.2 |
| Ensembl protein ID | |
| Ensembl nucleotide ID | |
| Gene name | Pinin |
| Gene symbol | Pnn |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 17654715 |
| Functional description | Transcriptional activator binding to the E-box 1 core sequence of the E-cadherin promoter gene; the core-binding sequence is 5'CAGGTG-3'. Capable of reversing CTBP1-mediated transcription repression. Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Participates in the regulation of alternative pre-mRNA splicing. Associates to spliced mRNA within 60 nt upstream of the 5'-splice sites. Component of the PSAP complex which binds RNA in a sequence-independent manner and is proposed to be recruited to the EJC prior to or during the splicing process and to regulate specific excision of introns in specific transcription subsets. Involved in the establishment and maintenance of epithelia cell-cell adhesion (By similarity). |
| Sequence | MAVAVRALQE QLEKAKESLK NVDENIRKLT GRDPNDVRPI QARLLALSGP GGGRGRGSLL 60 LRRGFSDSGG GPPAKQRDLE GAVSRLGGER RTRRESRQES DPEDDDVKKP ALQSSVVATS 120 KERTRDLIQD QNMDEKGKQR NRRIFGLLMG TLQKFKQEST VATERQKRRQ EIEQKLEVQA 180 EEERKQVENE RRELFEERRA KQTELRLLEQ KVELAQLQEE WNEHNAKIIK YIRTKTKPHL 240 FYIPGRMCPA TQKLIEESQR KMNALFEGRR IEFAEQINKM EARPRRQSMK EKEHQVVRNE 300 EQKAEQEEGK VAQREEELEE TGNQHNDVEV EEAGEEEEKE AGIVHSDAEK EQEEEEQKQE 360 MEVKTEEEAE VREGEKQQDS QPEEVMDVLE MVESVKHVIA EQEVMETNQV ESIEPSENET 420 SKELEPEMEF DVEPDKECKS LSPGKENINS QEVEKESEEK EEKEEKEPEP QPEPVAQPQP 480 PPQPLPQSQP HSQPHSQPQP VLQSQPLCQP ETLPLAVLQP PPQVIQEQGN LLPERKDFPL 540 ESIKLPEVSV EPVLTVHSEN KSKNKTRSRS RGRARNKTSK SRSRSSSSSS SSSSSTSSSS 600 GSSSSSGSSS SRSSSSSSSS TSGSSSRDSS SSTSSSSESR SRSRGRGHNR DRKHRRSMDR 660 KRRDTSGLER SHKSSKGGSS RDRKGSKDKS SRPDRKRSIS ESSRSGKRSS RSERDRKSDR 720 KDKRR 725 |
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.
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0003677 | DNA binding | IEA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0006397 | mRNA processing | IEA |
| GO:0007155 | cell adhesion | IBA |
| GO:0008380 | RNA splicing | IEA |
| GO:0098609 | cell-cell adhesion | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005737 | cytoplasm | IDA |
| GO:0005911 | cell-cell junction | IBA |
| GO:0016607 | nuclear speck | ISO |
| GO:0016607 | nuclear speck | IDA |
| GO:0030057 | desmosome | ISO |
| GO:0071013 | catalytic step 2 spliceosome | ISO |
| GO:0071013 | catalytic step 2 spliceosome | IBA |
| GO:0035145 | exon-exon junction complex | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|
| Keyword ID | Keyword Term |
|---|---|
| KW-0007 | Acetylation |
| KW-0010 | Activator |
| KW-0965 | Cell junction |
| KW-0175 | Coiled coil |
| KW-0238 | DNA-binding |
| KW-1017 | Isopeptide bond |
| KW-0488 | Methylation |
| KW-0507 | mRNA processing |
| KW-0508 | mRNA splicing |
| KW-0539 | Nucleus |
| KW-0597 | Phosphoprotein |
| KW-1185 | Reference proteome |
| KW-0747 | Spliceosome |
| KW-0804 | Transcription |
| KW-0805 | Transcription regulation |
| KW-0832 | Ubl conjugation |