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ERP27 endoplasmic reticulum protein 27 [ Homo sapiens (human) ]

Gene ID: 121506, updated on 11-Jun-2021

Summary

Official Symbol
ERP27provided by HGNC
Official Full Name
endoplasmic reticulum protein 27provided by HGNC
Primary source
HGNC:HGNC:26495
See related
Ensembl:ENSG00000139055 MIM:610642
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
PDIA8; C12orf46
Summary
This gene encodes a noncatalytic member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. The canonical protein has an N-terminal signal sequence, two thioredoxin (TRX)-like domains and a C-terminal ER-retention sequence. Alternative splicing results in multiple transcript variants encoding distinct isoforms; some of which lack domains present in the canonical protein. [provided by RefSeq, Dec 2016]
Expression
Biased expression in pancreas (RPKM 211.6) and urinary bladder (RPKM 10.4) See more
Orthologs
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Genomic context

See ERP27 in Genome Data Viewer
Location:
12p12.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (14914039..14938537, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (15066973..15091471, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) Neighboring gene matrix Gla protein Neighboring gene Rho GDP dissociation inhibitor beta Neighboring gene uncharacterized LOC105369670 Neighboring gene phosphodiesterase 6H

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of endoplasmic reticulum protein 27 (ERP27) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32115

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
NOT enables protein disulfide isomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in protein folding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in response to endoplasmic reticulum stress IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in response to unfolded protein IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum lumen IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
endoplasmic reticulum resident protein 27
Names
ER protein 27
endoplasmic reticulum protein 27 kDa
inactive protein disulfide-isomerase 27
protein disulfide isomerase family A, member 8

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.

mRNA and Protein(s)

  1. NM_001300784.2NP_001287713.1  endoplasmic reticulum resident protein 27 isoform 2

    See identical proteins and their annotated locations for NP_001287713.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents use of an alternate promoter, and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at an alternate start codon and result in an isoform (2) that has a distinct N-terminus, and is shorter, compared to isoform 1.
    Source sequence(s)
    AA772096, AC007655, AY358536, BQ574479, CN296050
    Consensus CDS
    CCDS73450.1
    UniProtKB/Swiss-Prot
    Q96DN0
    UniProtKB/TrEMBL
    F5GYS6
    Related
    ENSP00000440573.1, ENST00000540097.1
    Conserved Domains (2) summary
    cd02982
    Location:50152
    PDI_b'_family; Protein Disulfide Isomerase (PDIb') family, redox inactive TRX-like domain b'; composed of eukaryotic proteins involved in oxidative protein folding in the endoplasmic reticulum (ER) by acting as catalysts and folding assistants. Members of this family ...
    pfam13848
    Location:24149
    Thioredoxin_6; Thioredoxin-like domain
  2. NM_152321.4NP_689534.1  endoplasmic reticulum resident protein 27 isoform 1 precursor

    See identical proteins and their annotated locations for NP_689534.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AA772096, AK056677, AY358536, BQ574479
    Consensus CDS
    CCDS8670.1
    UniProtKB/Swiss-Prot
    Q96DN0
    Related
    ENSP00000266397.2, ENST00000266397.7
    Conserved Domains (1) summary
    pfam13848
    Location:64250
    Thioredoxin_6; Thioredoxin-like domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    14914039..14938537 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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