Tag | Content |
---|---|
Uniprot ID | Q9R1S0 |
Entrez ID | 27078 |
Genbank protein ID | BAB22525.1; BAA82643.1; BAE20767.1; BAB26875.1; AAH08113.1; |
Genbank nucleotide ID | NM_001330780.1; NM_013717.3; NM_001330781.1; |
Ensembl protein ID | ENSMUSP00000099717 |
Ensembl nucleotide ID | ENSMUSG00000001039 |
Gene name | B9 domain-containing protein 1 |
Gene symbol | B9d1 |
Organism | Mus musculus |
NCBI taxa ID | 10090 |
Cleft type | CPO |
Developmental stage | |
Data sources | Manually collected |
Reference | 21677750 |
Functional description | Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling. |
Sequence | MAAASPSVFL LMITGQVESA QFPEYDDLYC KYCFVYGQDW APTAGLEEGI SQIASKSQDV 60 RQALVWNFPI DVTFKSTNPY GWPQIVLSVY GPDVFGNDVV RGYGAVHVPL SPGRHKRTIP 120 MFVPESTSTL QKFTSWFMGR RPEYTDPKVV AQGEGREVTR VRSQGFVTLL FNVVTKDMKK 180 LGYDTGPVDT QGVLGPSLPQ GNPQ 204 |
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.