B9d1 - B9 protein domain 1 Gene

Also Known as B9; Eppb9

Species: Mus musculus

Gene Type: protein coding

Gene ID: 27078

Summary

Enables Hedgehog receptor activity. Involved in cilium assembly. Acts upstream of or within several processes, including embryonic digit morphogenesis; neuroepithelial cell differentiation; and smoothened signaling pathway. Located in ciliary transition zone and membrane. Part of MKS complex. Is expressed in embryo. Used to study Meckel syndrome. Human ortholog(s) of this gene implicated in Joubert syndrome 27 and Meckel syndrome. Orthologous to human B9D1 (B9 domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]

B9d1 Products (3)

mRNA	Protein	Name
NM_001330780.1	NP_001317709.1	B9 domain-containing protein 1 isoform 2 precursor
NM_001330781.1	NP_001317710.1	B9 domain-containing protein 1 isoform 3 precursor
NM_013717.3	NP_038745.1	B9 domain-containing protein 1 isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables hedgehog receptor activity	IMP IMP: Inferred from mutant phenotype	21763481	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	21565611	MGI

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within camera-type eye development	IMP IMP: Inferred from mutant phenotype	22179047	MGI
acts upstream of or within cilium assembly	IMP IMP: Inferred from mutant phenotype	22179047	MGI
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	21725307	MGI
acts upstream of or within embryonic digit morphogenesis	IMP IMP: Inferred from mutant phenotype	22179047	MGI
acts upstream of or within in utero embryonic development	IMP IMP: Inferred from mutant phenotype	22179047	MGI
acts upstream of or within neuroepithelial cell differentiation	IMP IMP: Inferred from mutant phenotype	22179047	MGI
acts upstream of or within regulation of protein localization	IMP IMP: Inferred from mutant phenotype	22179047	MGI
acts upstream of or within smoothened signaling pathway	IMP IMP: Inferred from mutant phenotype	22179047	MGI
involved in smoothened signaling pathway	IMP IMP: Inferred from mutant phenotype	22179047	MGI
acts upstream of or within vasculature development	IMP IMP: Inferred from mutant phenotype	22179047	MGI

Cellular Component GO Annotation	Evidence	References	Source
part of MKS complex	IDA IDA: Inferred from direct assay	21725307	MGI
located in ciliary transition zone	IDA IDA: Inferred from direct assay	22179047	MGI
located in membrane	IDA IDA: Inferred from direct assay	22179047	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
B9 domain-containing protein 1	endothelial precursor cells protein B9

B9d1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	B9d1	Q9R1S0	Mks1	Mus musculus	Q5SW45	TAP	21763481
Intra	B9d1	Q9R1S0	Mks1	Mus musculus	Q5SW45	TAP	22179047
Intra	B9d1	Q9R1S0	B9d2	Mus musculus	Q3UK10	TAP	21763481
Intra	B9d1	Q9R1S0	B9d2	Mus musculus	Q3UK10	TAP	22179047

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01327	B9D1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	B9d1	NCBI	NCBI:27077