| Tag | Content |
|---|---|
| Uniprot ID | Q9NVD7; Q96C85; Q9HA48; |
| Entrez ID | 55742 |
| Genbank protein ID | AAH16713.1; BAB14009.1; AAK49911.1; AAG27173.1; BAA91815.1; AAH14535.1; |
| Genbank nucleotide ID | NM_018222.4 |
| Ensembl protein ID | ENSP00000334008 |
| Ensembl nucleotide ID | ENSG00000197702 |
| Gene name | Alpha-parvin |
| Gene symbol | PARVA |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 26449438 |
| Functional description | Plays a role in sarcomere organization and in smooth muscle cell contraction. Required for normal development of the embryonic cardiovascular system, and for normal septation of the heart outflow tract. Plays a role in sprouting angiogenesis and is required for normal adhesion of vascular smooth muscle cells to endothelial cells during blood vessel development (By similarity). Plays a role in the reorganization of the actin cytoskeleton, formation of lamellipodia and ciliogenesis. Plays a role in the establishement of cell polarity, cell adhesion, cell spreading, and directed cell migration. |
| Sequence | MATSPQKSPS VPKSPTPKSP PSRKKDDSFL GKLGGTLARR KKAKEVSELQ EEGMNAINLP 60 LSPIPFELDP EDTMLEENEV RTMVDPNSRS DPKLQELMKV LIDWINDVLV GERIIVKDLA 120 EDLYDGQVLQ KLFEKLESEK LNVAEVTQSE IAQKQKLQTV LEKINETLKL PPRSIKWNVD 180 SVHAKSLVAI LHLLVALSQY FRAPIRLPDH VSIQVVVVQK REGILQSRQI QEEITGNTEA 240 LSGRHERDAF DTLFDHAPDK LNVVKKTLIT FVNKHLNKLN LEVTELETQF ADGVYLVLLM 300 GLLEGYFVPL HSFFLTPDSF EQKVLNVSFA FELMQDGGLE KPKPRPEDIV NCDLKSTLRV 360 LYNLFTKYRN VE 372 |
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.