Emilin1 elastin microfibril interfacer 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Emilin1provided by RGD
Official Full Name: elastin microfibril interfacer 1provided by RGD
Primary source: RGD:1311209
See related: EnsemblRapid:ENSRNOG00000008246 AllianceGenome:RGD:1311209
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable several functions, including extracellular matrix constituent conferring elasticity; identical protein binding activity; and integrin binding activity involved in cell-matrix adhesion. Predicted to be involved in several processes, including negative regulation of signal transduction; regulation of angiogenesis; and regulation of extracellular matrix organization. Predicted to act upstream of or within extracellular matrix organization and positive regulation of cell-substrate adhesion. Predicted to be located in collagen-containing extracellular matrix and extracellular space. Predicted to be part of EMILIN complex and integrin alpha4-beta1 complex. Human ortholog(s) of this gene implicated in autosomal dominant distal hereditary motor neuronopathy 10. Orthologous to human EMILIN1 (elastin microfibril interfacer 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in Spleen (RPKM 195.5), Kidney (RPKM 139.9) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 6q14

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	6	NC_086024.1 (31175919..31183657, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	6	NC_051341.1 (25455974..25463713, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	6	NC_005105.4 (26821249..26829013, complement)

Chromosome 6 - NC_086024.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

This study demonstrates for the first time a decreased Emilin-1 gene and protein expression in the pulmonary vasculature of nitrofen-induced congenital diaphragmatic hernia. Emilin-1 deficiency through its interaction with TGFss may result in abnormal vascular remodeling resulting in pulmonary hypertension in this model.
Title: Downregulated Elastin Microfibril Interfacer 1 Expression in the Pulmonary Vasculature of Experimental Congenital Diaphragmatic Hernia.
Pull-down assays indicated that the binding to organ of Corti CNGA3 was attributable to the EMILIN1 intracellular sequence that follows a predicted transmembrane domain in the C-terminus
Title: CNGA3 is expressed in inner ear hair cells and binds to an intracellular C-terminus domain of EMILIN1.

Submit: New GeneRIF Correction

General gene information

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Markers

Emilin1 (e-PCR), detects polymorphism
- UniSTS:502936

RH131913 (e-PCR)
- UniSTS:215196

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables extracellular matrix constituent conferring elasticity	IBA Inferred from Biological aspect of Ancestor more info
enables extracellular matrix constituent conferring elasticity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables integrin binding involved in cell-matrix adhesion	ISO Inferred from Sequence Orthology more info
enables molecular adaptor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in aortic valve morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in cell adhesion mediated by integrin	ISO Inferred from Sequence Orthology more info
involved_in cell migration	ISO Inferred from Sequence Orthology more info
involved_in cell-matrix adhesion	ISO Inferred from Sequence Orthology more info
involved_in elastic fiber assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within extracellular matrix organization	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of ERK1 and ERK2 cascade	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of SMAD protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of angiogenesis	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell activation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of collagen biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of collagen fibril organization	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of macrophage migration	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transforming growth factor beta receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of vascular endothelial growth factor receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of vascular endothelial growth factor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of angiogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of cell-substrate adhesion	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of defense response to bacterium	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of extracellular matrix assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in regulation of blood pressure	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of EMILIN complex	ISO Inferred from Sequence Orthology more info
located_in collagen-containing extracellular matrix	ISO Inferred from Sequence Orthology more info
located_in extracellular matrix	ISO Inferred from Sequence Orthology more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
part_of integrin alpha4-beta1 complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: EMILIN-1

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_001106710.2 → NP_001100180.1 EMILIN-1 isoform 2

See identical proteins and their annotated locations for NP_001100180.1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000006

UniProtKB/TrEMBL

A6HAB2, A6HAB4

Related

ENSRNOP00000010932.5, ENSRNOT00000010932.7

Conserved Domains (2) summary

pfam15394
Location:158 → 304

DUF4616; Domain of unknown function (DUF4616)

cl23878
Location:753 → 894

C1q; C1q domain
NM_001399395.1 → NP_001386324.1 EMILIN-1 isoform 1 precursor

Status: VALIDATED

Source sequence(s)

JAXUCZ010000006

UniProtKB/TrEMBL

D3Z9E1

Related

ENSRNOP00000093146.2, ENSRNOT00000098682.2

Conserved Domains (3) summary

TIGR02168
Location:640 → 808

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam07546
Location:58 → 127

EMI; EMI domain

cl23878
Location:870 → 1011

C1q; C1q domain