B9D1 Gene Summary [Human]
This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Mar 2016]
Details
| Type | Processed Transcript |
| Official Symbol | B9D1 |
| Official Name | B9 domain containing 1 [Source:HGNC Symbol;Acc:HGNC:24123] |
| Ensembl ID | ENSG00000108641 |
| Bio databases IDs | |
| Aliases | B9 domain containing 1, endothelial precursor protein B9 |
| Synonyms | B9, B9 domain containing 1, B9 protein domain 1, EPPB9, JBTS27, LOC108348055, MKS9, MKSR-1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human B9D1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ciliary basal body-associated, B9 protein
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Joubert syndrome type 1
- hereditary disorder
- Joubert syndrome type 27
- polydactyly
- Joubert syndrome related disorder
- microphthalmia
- schizophrenia
- Meckel syndrome
- ciliopathy
- major depression
role in cell
- expression in
- formation
- formation in
- differentiation
- assembly
- ciliogenesis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- ciliary transition zone
- cellular membrane
- basal bodies
- centrosome
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human B9D1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neuroepithelial cell differentiation
- cilium morphogenesis
- in utero embryonic development
- regulation of protein localization
- vasculature development
- camera-type eye development
- smoothened signaling pathway
- embryonic digit morphogenesis
Cellular Component
Where in the cell the gene product is active
- centrosome
- cilium basal body
- membrane
- cytosol
- ciliary transition zone
- TCTN-B9D complex
Molecular Function
What the gene product does at the molecular level
- protein binding
- hedgehog receptor activity