Emc1 ER membrane protein complex subunit 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Emc1provided by MGI
Official Full Name: ER membrane protein complex subunit 1provided by MGI
Primary source: MGI:MGI:2443696
See related: Ensembl:ENSMUSG00000078517 AllianceGenome:MGI:2443696
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: 2700016F22Rik
Summary: Predicted to contribute to membrane insertase activity. Predicted to be involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in endoplasmic reticulum. Is expressed in lung. Orthologous to human EMC1 (ER membrane protein complex subunit 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in subcutaneous fat pad adult (RPKM 16.2), ovary adult (RPKM 15.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D3; 4 70.66 cM

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (139079898..139106046)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (139352587..139378735)

Chromosome 4 - NC_000070.7 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
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?

Deletion of Emc1 in photoreceptor cells causes retinal degeneration in mice.
Title: Deletion of Emc1 in photoreceptor cells causes retinal degeneration in mice.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (2) 1 citation

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
contributes_to membrane insertase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in protein insertion into ER membrane by stop-transfer membrane-anchor sequence	ISO Inferred from Sequence Orthology more info
involved_in tail-anchored membrane protein insertion into ER membrane	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of EMC complex	IBA Inferred from Biological aspect of Ancestor more info
part_of EMC complex	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	NAS Non-traceable Author Statement more info	PubMed
located_in membrane	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: ER membrane protein complex subunit 1

Names: novel DUF1620 domain containing protein

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_001039200.2 → NP_001034289.1 ER membrane protein complex subunit 1 isoform 2 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.

Source sequence(s)

AK049061, AK089289, AL807833, BY281473

Consensus CDS

CCDS18846.1

UniProtKB/TrEMBL

Z4YJW0

Related

ENSMUSP00000049034.8, ENSMUST00000042096.15

Conserved Domains (2) summary

pfam07774
Location:788 → 993

DUF1620; Protein of unknown function (DUF1620)

pfam13360
Location:63 → 254

PQQ_2; PQQ-like domain
NM_146157.4 → NP_666269.2 ER membrane protein complex subunit 1 isoform 1 precursor

See identical proteins and their annotated locations for NP_666269.2

Status: VALIDATED

Description

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

Source sequence(s)

AK049061, AL807833, BY281473

Consensus CDS

CCDS38933.1

UniProtKB/Swiss-Prot

B2RTJ5, Q3TCG4, Q6ZQJ4, Q8C7X2, Q8K3W8

UniProtKB/TrEMBL

A1L2Z3

Related

ENSMUSP00000137103.2, ENSMUST00000179784.9

Conserved Domains (2) summary

pfam07774
Location:791 → 996

DUF1620; Protein of unknown function (DUF1620)

pfam13360
Location:63 → 254

PQQ_2; PQQ-like domain