B9d1 B9 protein domain 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: B9d1provided by MGI
Official Full Name: B9 protein domain 1provided by MGI
Primary source: MGI:MGI:1351471
See related: Ensembl:ENSMUSG00000001039 AllianceGenome:MGI:1351471
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: B9; Eppb9
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]
Expression: Broad expression in testis adult (RPKM 74.8), ovary adult (RPKM 19.1) and 19 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11; 11 B2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (61395970..61403757)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (61505144..61512931)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

B9d1 is required for normal Hh signaling, ciliogenesis, and ciliary protein localization. B9d1 and B9d2 are essential components of a B9 protein complex, disruption of which causes Meckel syndrome.
Title: Disruption of a ciliary B9 protein complex causes Meckel syndrome.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW045994 (e-PCR)
- UniSTS:180226

AB030483 (e-PCR)
- UniSTS:163504

Homology

Homologs of the B9d1 gene: The B9d1 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, and frog.
Orthologs from Annotation Pipeline: 484 organisms have orthologs with human gene B9d1
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables hedgehog receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell projection organization	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic digit morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuroepithelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within vasculature development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of MKS complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
part_of MKS complex	IDA Inferred from Direct Assay more info	PubMed
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in ciliary basal body	ISO Inferred from Sequence Orthology more info
located_in ciliary transition zone	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: B9 domain-containing protein 1

Names: endothelial precursor cells protein B9

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001330780.1 → NP_001317709.1 B9 domain-containing protein 1 isoform 2 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK010355, AW121128, BQ044636

UniProtKB/Swiss-Prot

Q9R1S0

Related

ENSMUST00000140548.8

Conserved Domains (1) summary

pfam07162
Location:17 → 84

B9-C2; Ciliary basal body-associated, B9 protein
NM_001330781.1 → NP_001317710.1 B9 domain-containing protein 1 isoform 3 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK010355, AW121128, CF551490

UniProtKB/Swiss-Prot

Q9R1S0

Related

ENSMUST00000155176.8

Conserved Domains (1) summary

pfam07162
Location:17 → 47

B9-C2; Ciliary basal body-associated, B9 protein
NM_013717.3 → NP_038745.1 B9 domain-containing protein 1 isoform 1 precursor

See identical proteins and their annotated locations for NP_038745.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AK010355, AW121128

Consensus CDS

CCDS24815.1

UniProtKB/Swiss-Prot

Q9R1S0

UniProtKB/TrEMBL

A0A8C6MZQ8

Related

ENSMUSP00000099717.4, ENSMUST00000102657.10

Conserved Domains (1) summary

pfam07162
Location:17 → 173

B9-C2; Ciliary basal body-associated, B9 protein