Gene: B9d1

Basic information

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.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologB9D1505335E1BKI6Bos taurusPredictionMore>>
1:1 orthologB9D1102180795A0A452G5L1Capra hircusPredictionMore>>
1:1 orthologB9D1100063389F7BHN1Equus caballusPredictionMore>>
1:1 orthologB9D127077Q9UPM9Homo sapiensPredictionMore>>
1:1 orthologB9d127078Q9R1S0CPOMus musculusPublicationMore>>
1:1 orthologB9D1742196H2QCF2Pan troglodytesPredictionMore>>
1:1 orthologB9D1A0A287BIY2Sus scrofaPredictionMore>>
1:1 orthologB9d1287383P0C5J2Rattus norvegicusPredictionMore>>
1:1 orthologb9d1F1QU58Danio rerioPredictionMore>>

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005515 protein bindingIPI
GO:0008158 hedgehog receptor activityIMP

GO:Biological Process

GO ID GO Term Evidence
GO:0001701 in utero embryonic developmentIMP
GO:0001944 vasculature developmentIMP
GO:0007224 smoothened signaling pathwayIMP
GO:0032880 regulation of protein localizationIMP
GO:0042733 embryonic digit morphogenesisIMP
GO:0043010 camera-type eye developmentIMP
GO:0060271 cilium assemblyISS
GO:0060271 cilium assemblyIMP
GO:0060563 neuroepithelial cell differentiationIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005737 cytoplasmIEA
GO:0005813 centrosomeISS
GO:0005813 centrosomeISO
GO:0016020 membraneIDA
GO:0035869 ciliary transition zoneIDA
GO:0036038 MKS complexIDA
GO:0036064 ciliary basal bodyISS
GO:0036064 ciliary basal bodyISO

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-1852241 Organelle biogenesis and maintenanceIEA
R-MMU-5617833 Cilium AssemblyIEA
R-MMU-5620912 Anchoring of the basal body to the plasma membraneIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0966 Cell projection
KW-0969 Cilium
KW-0970 Cilium biogenesis/degradation
KW-0963 Cytoplasm
KW-0206 Cytoskeleton
KW-1185 Reference proteome

Interpro

InterPro ID InterPro Term
IPR010796 B9_dom

PROSITE

PROSITE ID PROSITE Term
PS51381 C2_B9

Pfam

Pfam ID Pfam Term
PF07162 B9-C2

Protein-protein interaction