Emilin3 elastin microfibril interfacer 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Emilin3provided by MGI
Official Full Name: elastin microfibril interfacer 3provided by MGI
Primary source: MGI:MGI:2389142
See related: Ensembl:ENSMUSG00000050700 AllianceGenome:MGI:2389142
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: Emilin5; EMILIN-3; EMILIN-5; EMILIN-T; 1110013O17Rik
Summary: Predicted to enable identical protein binding activity. Located in cytoplasm. Is expressed in several structures, including genitourinary system; gut; integumental system; limb; and nervous system. Orthologous to human EMILIN3 (elastin microfibril interfacer 3). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in limb E14.5 (RPKM 27.0), CNS E11.5 (RPKM 2.7) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 H2; 2 80.98 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (160748358..160754259, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (160906438..160912339, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

dispensable for hair follicle growth and maintenance
Title: EMILIN3, an extracellular matrix molecule with restricted distribution in skin.
characterization of the expression and biochemical properties of EMILIN-3
Title: EMILIN-3, peculiar member of elastin microfibril interface-located protein (EMILIN) family, has distinct expression pattern, forms oligomeric assemblies, and serves as transforming growth factor β (TGF-β) antagonist.
Transcripts highly enriched in ovary; gene identified as candidate female fertility factor.
Title: Genomewide discovery and classification of candidate ovarian fertility genes in the mouse.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: EMILIN-3

Names: elastin microfibril interface located protein 5; elastin microfibril interface-located protein 3; elastin microfibril interfacer 5

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_001291145.1 → NP_001278074.1 EMILIN-3 isoform b precursor

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.

Source sequence(s)

BC057619, BY139070, W50635

Consensus CDS

CCDS71181.1

UniProtKB/TrEMBL

A2A4B4

Related

ENSMUSP00000105080.2, ENSMUST00000109454.8

Conserved Domains (2) summary

pfam01442
Location:414 → 593

Apolipoprotein; Apolipoprotein A1/A4/E domain

pfam07546
Location:58 → 122

EMI; EMI domain
NM_182840.2 → NP_878260.1 EMILIN-3 isoform a precursor

See identical proteins and their annotated locations for NP_878260.1

Status: VALIDATED

Description

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

Source sequence(s)

BC057619, BY139070

Consensus CDS

CCDS16999.1

UniProtKB/Swiss-Prot

P59900

Related

ENSMUSP00000059732.5, ENSMUST00000057169.5

Conserved Domains (2) summary

pfam01442
Location:461 → 640

Apolipoprotein; Apolipoprotein A1/A4/E domain

pfam07546
Location:58 → 122

EMI; EMI domain