EMC7 ER membrane protein complex subunit 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EMC7provided by HGNC
Official Full Name: ER membrane protein complex subunit 7provided by HGNC
Primary source: HGNC:HGNC:24301
See related: Ensembl:ENSG00000134153 MIM:620631; AllianceGenome:HGNC:24301
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HT022; C11orf3; C15orf24; ORF1-FL1
Summary: Contributes to membrane insertase activity. 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 membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in testis (RPKM 46.7), adrenal (RPKM 45.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q14

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (34084017..34101862, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (31882200..31900068, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (34376218..34394063, complement)

Chromosome 15 - NC_000015.10 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ER membrane protein complex subunit 4 (EMC4) and EMC7 support SV40 infection by promoting from the late endosome (LE) to the endoplasmic reticulum (ER) targeting of the virus. They do this by engaging LE-associated Rab7, to stabilize contact between the LE and ER. These EMC subunits also bind to the ER-resident fusion machinery component syntaxin18, which is required for SV40-arrival to the ER.
Title: Selective EMC subunits act as molecular tethers of intracellular organelles exploited during viral entry.
Candidate modifier gene on the phenotypic expression of hypertrophy in patients with hyperthophic cardiomyopathy.
Title: [Familial hypertrophic cardiomyopathy--a case report].

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:486263

SHGC-64737 (e-PCR)
- UniSTS:95402

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
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
located_in membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: endoplasmic reticulum membrane protein complex subunit 7

Names: UPF0480 protein C15orf24; chromosome 15 hypothetical ATG/GTP binding 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.