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

Gene ID: 51234, updated on 22-Sep-2022

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. Is integral component of endoplasmic reticulum membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in fat (RPKM 45.2), brain (RPKM 40.2) and 25 other tissues See more
Orthologs
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Genomic context

See EMC4 in Genome Data Viewer
Location:
15q14
Exon count:
5
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (34225016..34230156)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (32023277..32028416)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (34517217..34522357)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene piggyBac transposable element derived 4 Neighboring gene katanin regulatory subunit B1 like 1 Neighboring gene uncharacterized LOC124903461 Neighboring gene solute carrier family 12 member 6 Neighboring gene NOP10 ribonucleoprotein

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ57999, FLJ90746, MGC24415

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 
Component Evidence Code Pubs
part_of EMC complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of EMC complex IC
Inferred by Curator
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 
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

  1. NG_054746.1 RefSeqGene

    Range
    5020..10160
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_001273349.1

    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/Swiss-Prot
    Q5J8M3
    UniProtKB/TrEMBL
    A0A0S2Z598
    Related
    ENSP00000249209.4, ENST00000249209.8
    Conserved Domains (1) summary
    pfam06417
    Location:58116
    DUF1077; Protein of unknown function (DUF1077)
  2. NM_001351373.2NP_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:189
    DUF1077; Protein of unknown function (DUF1077)
  3. NM_016454.4NP_057538.1  ER membrane protein complex subunit 4 isoform a

    See identical proteins and their annotated locations for NP_057538.1

    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
    Q5J8M3, Q9P0T9
    UniProtKB/TrEMBL
    A0A024R9N3
    Related
    ENSP00000267750.4, ENST00000267750.9
    Conserved Domains (1) summary
    pfam06417
    Location:56170
    DUF1077; Protein of unknown function (DUF1077)

RNA

  1. 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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    34225016..34230156
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    32023277..32028416
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)