Emc1 MGI Mouse Gene Detail - MGI:2443696 - ER membrane protein complex subunit 1

Symbol

Emc1
Name

ER membrane protein complex subunit 1
Synonyms

C230096C10Rik, mKIAA0090

Feature Type

protein coding gene
IDs

MGI:2443696
NCBI Gene: 230866
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr4:139079898-139106041 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 70.66 cM
Mapping Data

2 experiments

SNPs within 2kb

778 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2443696	protein coding gene	Chr4:139079898-139106046 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0029017	protein coding gene	Chr4:142184767-142211051 (+)
A/J	MGP_AJ_G0028976	protein coding gene	Chr4:136071319-136097014 (+)
AKR/J	MGP_AKRJ_G0028928	protein coding gene	Chr4:139970017-139997109 (+)
BALB/cJ	MGP_BALBcJ_G0029000	protein coding gene	Chr4:136743215-136773201 (+)
C3H/HeJ	MGP_C3HHeJ_G0028714	protein coding gene	Chr4:140348416-140376817 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0029441	protein coding gene	Chr4:147216183-147247005 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026712	protein coding gene	Chr4:129026139-129052035 (+)
CAST/EiJ	MGP_CASTEiJ_G0028146	protein coding gene	Chr4:138533168-138559115 (+)
CBA/J	MGP_CBAJ_G0028678	protein coding gene	Chr4:151470084-151499524 (+)
DBA/2J	MGP_DBA2J_G0028828	protein coding gene	Chr4:136465617-136493464 (+)
FVB/NJ	MGP_FVBNJ_G0028795	protein coding gene	Chr4:135493401-135520038 (+)
LP/J	MGP_LPJ_G0028927	protein coding gene	Chr4:142258513-142285469 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028821	protein coding gene	Chr4:155372825-155399534 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029479	protein coding gene	Chr4:140498835-140526065 (+)
PWK/PhJ	MGP_PWKPhJ_G0027867	protein coding gene	Chr4:133315370-133341859 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0027692	protein coding gene	Chr4:136275557-136302968 (+)
WSB/EiJ	MGP_WSBEiJ_G0028224	protein coding gene	Chr4:140751558-140782049 (+)

Human Ortholog

EMC1, ER membrane protein complex subunit 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EMC1, ER membrane protein complex subunit 1
Synonyms

CAVIPMR, KIAA0090
Links

HGNC:28957

NCBI Gene ID: 23065

neXtProt AC: NX_Q8N766

UniProt: Q8N766
Chr Location

1p36.13; chr1:19215660-19251552 (-) GRCh38

MGI Vertebrate Homology

Emc1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: EMC1
Gene Tree

Emc1

Diseases

1 with human EMC1 associations

				Human Disease	Mouse Models
				cerebellar atrophy, visual impairment, and psychomotor retardation IDs cerebellar atrophy, visual impairment, and psychomotor retardation DOID:0081276 OMIM:616875 ORDO:480898

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

14 phenotypes from 1 allele in 2 genetic backgrounds
7 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

7
Chemically induced (other)

2
Endonuclease-mediated

2
Targeted

3
Genomic Mutations

3 involving Emc1
Incidental Mutations

APF
Find Mice (IMSR)

56 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice with loss of expression in rods or cones show photoreceptor degeneration.

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All GO Annotations

20
GO References

7

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

719
Tissues

3
cDNA Data

15
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase emc1

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All Sequences

53
RefSeq

4
UniProt

3
CCDS

CCDS18846.1, CCDS38933.1

Ensembl

ENSMUSG00000078517 (Evidence)
NCBI Gene

230866

			Length	Strain/Species	Flank
genomic	ENSMUSG00000078517	Ensembl Gene Model \| MGI Sequence Detail	26144	C57BL/6J	± kb
transcript	ENSMUST00000179784	Ensembl \| MGI Sequence Detail	6232	Not Applicable
polypeptide	ENSMUSP00000137103	Ensembl \| MGI Sequence Detail	997	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000030474 ER membrane protein complex subunit 1

(term hierarchy)
InterPro Domains

IPR026895 ER membrane protein complex subunit 1

IPR011678 ER membrane protein complex subunit 1, C-terminal

IPR002372 Pyrrolo-quinoline quinone repeat

IPR011047 Quinoprotein alcohol dehydrogenase-like superfamily

IPR015943 WD40/YVTN repeat-like-containing domain superfamily
GlyGen

Q8C7X2 2 sites, 4 N-linked glycans (1 site), 1 O-linked glycan (1 site)

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All nucleic 16

cDNA 15

Primer pair 1

Microarray probesets 6

Summaries

All 36

Developmental Gene Expression 2

Gene Ontology 7

Phenotypes 7
Earliest

J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
Latest

J:345827 Li X, et al., Deletion of Emc1 in photoreceptor cells causes retinal degeneration in mice. FEBS J. 2023 Sep;290(17):4356-4370

TSS for Emc1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr39940	Chr4:139079900-139079932 (+)	18 bp
Tssr39941	Chr4:139087416-139087419 (+)	7,520 bp
Tssr39942	Chr4:139090876-139090886 (+)	10,983 bp
Tssr39943	Chr4:139090903-139090933 (+)	11,020 bp
Tssr39944	Chr4:139103129-139103147 (+)	23,240 bp
Tssr39945	Chr4:139104017-139104023 (+)	24,122 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/19/2024 MGI 6.24