EMC4 ER membrane protein complex subunit 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EMC4provided by HGNC
Official Full Name: ER membrane protein complex subunit 4provided by HGNC
Primary source: HGNC:HGNC:28032
See related: Ensembl:ENSG00000128463 MIM:616245; AllianceGenome:HGNC:28032
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: PIG17; TMEM85
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 fat (RPKM 45.2), brain (RPKM 40.2) 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 (34225016..34230156)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (32023277..32028416)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (34517217..34522357)

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.
TMEM85 is a complex gene that encodes a novel conserved anti-apoptotic protein.
Title: Transmembrane protein 85 from both human (TMEM85) and yeast (YGL231c) inhibit hydrogen peroxide mediated cell death in yeast.

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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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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 apoptotic process	IEA Inferred from Electronic Annotation more info
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

General protein information

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Preferred Names: ER membrane protein complex subunit 4

Names: cell proliferation-inducing gene 17 protein; transmembrane protein 85

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_054746.1 RefSeqGene

Range

5020..10160

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001286420.2 → NP_001273349.1 ER membrane protein complex subunit 4 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.

Source sequence(s)

BC002583, BG707804

Consensus CDS

CCDS66732.1

UniProtKB/TrEMBL

A0A0S2Z598

Related

ENSP00000249209.4, ENST00000249209.8

Conserved Domains (1) summary

pfam06417
Location:58 → 116

DUF1077; Protein of unknown function (DUF1077)
NM_001351373.2 → NP_001338302.1 ER membrane protein complex subunit 4 isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (c) has a shorter N-terminus than isoform 1.

Source sequence(s)

AC079203

Conserved Domains (1) summary

pfam06417
Location:1 → 89

DUF1077; Protein of unknown function (DUF1077)
NM_016454.4 → NP_057538.1 ER membrane protein complex subunit 4 isoform a

Status: VALIDATED

Description

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

Source sequence(s)

AF151018, BG707804

Consensus CDS

CCDS10035.1

UniProtKB/Swiss-Prot

A8K3A9, B4DJQ4, Q5J8M3, Q96KX9, Q9BUI5, Q9P0T9

UniProtKB/TrEMBL

A0A024R9N3

Related

ENSP00000267750.4, ENST00000267750.9

Conserved Domains (1) summary

pfam06417
Location:56 → 170

DUF1077; Protein of unknown function (DUF1077)

RNA

NR_147140.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) uses an alternate splice site and lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC079203, DB506932

Related

ENST00000558205.5