Tag | Content |
---|---|
Uniprot ID | Q9UPM9; Q9BU22; |
Entrez ID | 27077 |
Genbank protein ID | AAH02944.1; BAA82655.1; |
Genbank nucleotide ID | XM_017024452.1; NM_001321219.1; NM_001321216.1; NM_015681.4; NM_001321218.1; |
Ensembl protein ID | ENSP00000268841; ENSP00000261499; |
Ensembl nucleotide ID | ENSG00000108641 |
Gene name | B9 domain-containing protein 1 |
Gene symbol | B9D1 |
Organism | Homo sapiens |
NCBI taxa ID | 9606 |
Cleft type | |
Developmental stage | |
Data sources | Homology search |
Reference | |
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 (By similarity). |
Sequence | MATASPSVFL LMVNGQVESA QFPEYDDLYC KYCFVYGQDW APTAGLEEGI SQITSKSQDV 60 RQALVWNFPI DVTFKSTNPY GWPQIVLSVY GPDVFGNDVV RGYGAVHVPF SPGRHKRTIP 120 MFVPESTSKL QKFTSWFMGR RPEYTDPKVV AQGEGREVTR VRSQGFVTLL FNVVTKDMRK 180 LGYDTGPSDT QGVLGPSPPQ SFPQ 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.