EMC1 ER membrane protein complex subunit 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EMC1provided by HGNC
Official Full Name: ER membrane protein complex subunit 1provided by HGNC
Primary source: HGNC:HGNC:28957
See related: Ensembl:ENSG00000127463 MIM:616846; AllianceGenome:HGNC:28957
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CAVIPMR; KIAA0090
Summary: This gene encodes a single-pass type I transmembrane protein, which is a subunit of the endoplasmic reticulum membrane protein complex (EMC). Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2012]
Expression: Ubiquitous expression in placenta (RPKM 10.5), brain (RPKM 9.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.13

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (19215660..19251524, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (19039172..19075048, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (19542154..19578018, complement)

Chromosome 1 - NC_000001.11 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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment.
Title: Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment.
The authors find that a member of the endoplasmic reticulum membrane protein complex (EMC) called EMC1 promotes SV40 virus endoplasmic reticulum membrane transport and infection.
Title: EMC1-dependent stabilization drives membrane penetration of a partially destabilized non-enveloped virus.
EMC1 is a gene in which either biallelic or monoallelic variants might lead to a syndrome including intellectual disability and preferential degeneration of the cerebellum.
Title: Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Novel breast cancer risk alleles and interaction with ionizing radiation among U.S. radiologic technologists.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cerebellar atrophy, visual impairment, and psychomotor retardation; MedGen: C4225172 OMIM: 616875 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Voxelwise genome-wide association study (vGWAS). EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope transmembrane glycoprotein gp41	env	HIV-1 gp41 is identified to have a physical interaction with KIAA0090 in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-74286 (e-PCR)
- UniSTS:34824

D11S2921 (e-PCR)
- UniSTS:152074

NoName (e-PCR)
- UniSTS:9484

SHGC-74301 (e-PCR)
- UniSTS:64014

SHGC-82794 (e-PCR)
- UniSTS:95771

L17705 (e-PCR)
- UniSTS:66091

WI-14328 (e-PCR)
- UniSTS:13390

RH25318 (e-PCR)
- UniSTS:90750

WI-11429 (e-PCR)
- UniSTS:10881

SHGC-67307 (e-PCR)
- UniSTS:89991

D11S3114 (e-PCR)
- UniSTS:152207

L17813 (e-PCR)
- UniSTS:56006

GDB:631802 (e-PCR)
- UniSTS:158429

GDB:631813 (e-PCR)
- UniSTS:158430

D1S1288 (e-PCR)
- UniSTS:149485

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to membrane insertase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in protein insertion into ER membrane by stop-transfer membrane-anchor sequence	IDA Inferred from Direct Assay more info	PubMed
involved_in protein insertion into ER membrane by stop-transfer membrane-anchor sequence	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tail-anchored membrane protein insertion into ER membrane	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of EMC complex	IBA Inferred from Biological aspect of Ancestor more info
part_of EMC complex	IDA Inferred from Direct Assay more info	PubMed
part_of EMC complex	IPI Inferred from Physical Interaction more info	PubMed
part_of EMC complex	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	NAS Non-traceable Author Statement more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ER membrane protein complex subunit 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.

Genomic

NG_032948.1 RefSeqGene

Range

5036..40900

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001271427.2 → NP_001258356.1 ER membrane protein complex subunit 1 isoform 2 precursor

See identical proteins and their annotated locations for NP_001258356.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The resulting isoform (2) lacks an internal aa, compared to isoform 1.

Source sequence(s)

AL357564, BX648708, D42044, DB097686

Consensus CDS

CCDS59191.1

UniProtKB/TrEMBL

A0A8I5KW55

Related

ENSP00000364345.3, ENST00000375199.7

Conserved Domains (2) summary

pfam07774
Location:786 → 991

DUF1620; Protein of unknown function (DUF1620)

pfam13360
Location:59 → 218

PQQ_2; PQQ-like domain
NM_001271428.2 → NP_001258357.1 ER membrane protein complex subunit 1 isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central region, compared to variant 1. The resulting isoform (2) lacks an internal aa, compared to isoform 1.

Source sequence(s)

AL357564, BC034589, BX648708, DB097686

UniProtKB/TrEMBL

A0A8I5KW55

Related

ENSP00000510231.1, ENST00000688219.1

Conserved Domains (2) summary

pfam07774
Location:786 → 991

DUF1620; Protein of unknown function (DUF1620)

pfam13360
Location:59 → 218

PQQ_2; PQQ-like domain
NM_001271429.2 → NP_001258358.1 ER membrane protein complex subunit 1 isoform 4 precursor

See identical proteins and their annotated locations for NP_001258358.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (4) lacks an internal segment, compared to isoform 1.

Source sequence(s)

AK075563, AL357564, BC034589, BX648708, DB097686

Consensus CDS

CCDS59190.1

UniProtKB/TrEMBL

A0A8I5KW55

Related

ENSP00000364354.3, ENST00000375208.7

Conserved Domains (1) summary

pfam07774
Location:765 → 970

DUF1620; Protein of unknown function (DUF1620)
NM_001375820.1 → NP_001362749.1 ER membrane protein complex subunit 1 isoform 5 precursor

Status: REVIEWED

Source sequence(s)

AL035413, AL357564

Consensus CDS

CCDS90871.1

UniProtKB/TrEMBL

A0A8I5KW55, H7C5A2

Related

ENSP00000419345.2, ENST00000486405.2

Conserved Domains (2) summary

pfam07774
Location:790 → 995

DUF1620; Protein of unknown function (DUF1620)

pfam13360
Location:60 → 218

PQQ_2; PQQ-like domain
NM_001375821.1 → NP_001362750.1 ER membrane protein complex subunit 1 isoform 6 precursor

Status: REVIEWED

Source sequence(s)

AL035413, AL357564

UniProtKB/TrEMBL

A0A8I5KW55

Conserved Domains (2) summary

pfam07774
Location:789 → 994

DUF1620; Protein of unknown function (DUF1620)

pfam13360
Location:60 → 218

PQQ_2; PQQ-like domain
NM_015047.3 → NP_055862.1 ER membrane protein complex subunit 1 isoform 1 precursor

See identical proteins and their annotated locations for NP_055862.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AL357564, BC034589, BX648708

Consensus CDS

CCDS190.1

UniProtKB/Swiss-Prot

A8K6F3, Q14700, Q5TG62, Q63HL0, Q63HL3, Q8N766, Q8NBH8

UniProtKB/TrEMBL

A0A8I5KW55

Related

ENSP00000420608.1, ENST00000477853.6

Conserved Domains (2) summary

pfam07774
Location:787 → 992

DUF1620; Protein of unknown function (DUF1620)

pfam13360
Location:59 → 218

PQQ_2; PQQ-like domain