Gene: B9D1

Basic information

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.

Gene expression information

Gene expression in different tissues (GTEx V7)