Bbln bublin coiled coil protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bblnprovided by MGI
Official Full Name: bublin coiled coil proteinprovided by MGI
Primary source: MGI:MGI:1920987
See related: Ensembl:ENSMUSG00000039195 AllianceGenome:MGI:1920987
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: 1110008P14Rik
Summary: Predicted to enable molecular adaptor activity. Acts upstream of or within several processes, including apoptotic signaling pathway; bone resorption; and multinuclear osteoclast differentiation. Located in cell junction and subapical part of cell. Colocalizes with intermediate filament. Is expressed in central nervous system and dorsal root ganglion. Orthologous to human BBLN (bublin coiled coil protein). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in adrenal adult (RPKM 385.5), cortex adult (RPKM 183.4) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 B; 2 22.09 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (32269120..32271877, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (32379101..32381915, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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?

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Variation

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Alleles

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

Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI008323 (e-PCR)
- UniSTS:261566

RH126652 (e-PCR)
- UniSTS:207318

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular adaptor activity	ISO Inferred from Sequence Orthology more info
enables molecular adaptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in biological_process	ND No biological Data available more info
acts_upstream_of_or_within bone development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within bone resorption	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intermediate filament bundle assembly	ISO Inferred from Sequence Orthology more info
involved_in intermediate filament bundle assembly	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within multinuclear osteoclast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within osteoclast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of catalytic activity	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in cell junction	IMP Inferred from Mutant Phenotype more info	PubMed
located_in cell junction	ISO Inferred from Sequence Orthology more info
is_active_in cellular_component	ND No biological Data available more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
colocalizes_with intermediate filament	IMP Inferred from Mutant Phenotype more info	PubMed
colocalizes_with intermediate filament	ISO Inferred from Sequence Orthology more info
located_in kinetochore microtubule	IEA Inferred from Electronic Annotation more info
colocalizes_with kinetochore microtubule	ISO Inferred from Sequence Orthology more info
located_in subapical part of cell	IMP Inferred from Mutant Phenotype more info	PubMed
located_in subapical part of cell	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: bublin coiled-coil protein

Names: UPF0184 protein C9orf16 homolog

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.