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

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; AllianceGenome:HGNC:26495
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: mouse all
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Genomic context

Location:: 12p12.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (14914039..14938537, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (14791381..14815874, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (15066973..15091471, complement)

Chromosome 12 - NC_000012.12 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

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

High-resolution NMR studies of structure and dynamics of human ERp27 indicate extensive interdomain flexibility
Title: High-resolution NMR studies of structure and dynamics of human ERp27 indicate extensive interdomain flexibility.
ERp27 is able to distinguish between folded and unfolded substrates, only interacting with the latter and presenting them to for catalysis.
Title: The crystal structure of the protein-disulfide isomerase family member ERp27 provides insights into its substrate binding capabilities.
ERp27 is bound by ERp57 both in vitro and in vivo by a similar mechanism by which ERp57 binds calreticulin
Title: ERp27, a new non-catalytic endoplasmic reticulum-located human protein disulfide isomerase family member, interacts with ERp57.

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Phenotypes

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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)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-W86908 (e-PCR)
- UniSTS:19463

SHGC-64293 (e-PCR)
- UniSTS:26638

G62298 (e-PCR)
- UniSTS:139384

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

Process	Evidence Code	Pubs
involved_in protein folding	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to endoplasmic reticulum stress	IBA Inferred from Biological aspect of Ancestor more info
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
located_in endoplasmic reticulum lumen	IEA Inferred from Electronic Annotation more info

General protein information

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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)

NM_001300784.2 → NP_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/TrEMBL

F5GYS6

Related

ENSP00000440573.1, ENST00000540097.1

Conserved Domains (2) summary

cd02982
Location:50 → 152

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:24 → 149

Thioredoxin_6; Thioredoxin-like domain
NM_152321.4 → NP_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:64 → 250

Thioredoxin_6; Thioredoxin-like domain