| Tag | Content |
|---|---|
| Uniprot ID | Q9D6T0; Q9D8J9; |
| Entrez ID | 66394 |
| Genbank protein ID | BAB25373.1; BAB26637.1; AAH89029.1; |
| Genbank nucleotide ID | XM_017312232.1; NM_025533.3; NM_001163684.1; |
| Ensembl protein ID | ENSMUSP00000103460; ENSMUSP00000003513; |
| Ensembl nucleotide ID | ENSMUSG00000003421 |
| Gene name | Nitric oxide synthase-interacting protein |
| Gene symbol | Nosip |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 25546391 |
| Functional description | E3 ubiquitin-protein ligase that is essential for proper development of the forebrain, the eye and the face. Catalyzes monoubiquitination of serine/threonine-protein phosphatase 2A (PP2A) catalytic subunit PPP2CA/PPP2CB (PubMed:25546391). Negatively regulates nitric oxide production by inducing NOS1 and NOS3 translocation to actin cytoskeleton and inhibiting their enzymatic activity (By similarity). |
| Sequence | MTRHGKNCTA GAVYTYHEKK KDTAASGYGT QNIRLSRDAV KDFDCCCLSL QPCHDPVVTP 60 DGYLYEREAI LEYILHQKRE IARQVKAYEK QRGARREEQK ELQRAAAQDQ VRGFLEKEAA 120 IVSRPLNPFM PKAATLPNTE GEQPGPSVGP VGKDKDKALP SFWIPSLTPE AKATKLEKPS 180 RTVTCPMSGK PLRMSDLTSV RFTQLDDSVD RVGLITRSER YVCAVTRDSL SNATPCAVLR 240 PSGAVVTLEC VEKLIRKDMV DPVNGDTLTE RDIIVLQRGG TGFAGSGVKL QAEMSRPVMQ 300 A 301 |
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.
