ERP29 endoplasmic reticulum protein 29 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ERP29provided by HGNC
Official Full Name: endoplasmic reticulum protein 29provided by HGNC
Primary source: HGNC:HGNC:13799
See related: Ensembl:ENSG00000089248 MIM:602287; AllianceGenome:HGNC:13799
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ERp28; ERp31; PDIA9; PDI-DB; C12orf8; HEL-S-107
Summary: This gene encodes a protein which localizes to the lumen of the endoplasmic reticulum (ER). It is a member of the protein disulfide isomerase (PDI) protein family but lacks an active thioredoxin motif, suggesting that this protein does not function as a disulfide isomerase. The canonical protein dimerizes and is thought to play a role in the processing of secretory proteins within the ER. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
Expression: Ubiquitous expression in bone marrow (RPKM 73.5), prostate (RPKM 67.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.13

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (112013426..112023449)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (111990331..112000354)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (112451230..112461253)

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
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?

ERp29 Attenuates Nicotine-Induced Endoplasmic Reticulum Stress and Inhibits Choroidal Neovascularization.
Title: ERp29 Attenuates Nicotine-Induced Endoplasmic Reticulum Stress and Inhibits Choroidal Neovascularization.
Euchromatic histone lysine methyltransferase 2 facilitates radioresistance in prostate cancer by repressing endoplasmic reticulum protein 29 transcription.
Title: Euchromatic histone lysine methyltransferase 2 facilitates radioresistance in prostate cancer by repressing endoplasmic reticulum protein 29 transcription.
ERp29 forms a feedback regulation loop with microRNA-135a-5p and promotes progression of colorectal cancer.
Title: ERp29 forms a feedback regulation loop with microRNA-135a-5p and promotes progression of colorectal cancer.
Dimerization of ER-resident molecular chaperones mediated by ERp29.
Title: Dimerization of ER-resident molecular chaperones mediated by ERp29.
[Silencing ERp29 promotes the invasiveness of human PCa cells in vitro: Molecular mechanisms].
Title: [Silencing ERp29 promotes the invasiveness of human PCa cells in vitro: Molecular mechanisms].
Role of a genetic variation in the microRNA-4421 binding site of ERP29 regarding risk of oropharynx cancer and prognosis.
Title: Role of a genetic variation in the microRNA-4421 binding site of ERP29 regarding risk of oropharynx cancer and prognosis.
ERp29 affects the migratory and invasive ability of human extravillous trophoblast HTR-8/SVneo cells via modulating the epithelial-mesenchymal transition.
Title: ERp29 affects the migratory and invasive ability of human extravillous trophoblast HTR-8/SVneo cells via modulating the epithelial-mesenchymal transition.
ERp29 as a regulator of Insulin biosynthesis.
Title: ERp29 as a regulator of Insulin biosynthesis.
role of ERp29 in ICP
Title: ERp29 inhibition attenuates TCA toxicity via affecting p38/p53- dependent pathway in human trophoblast HTR-8/SVeno cells.
ERp29-MSec interaction appeared to require the presence of other bridging protein(s), perhaps triggered by post-translational modification of ERp29
Title: The chaperone ERp29 is required for tunneling nanotube formation by stabilizing MSec.

Submit: New GeneRIF Correction See all GeneRIFs (43)

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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 interacts with ERP29; predicted interaction to be within the endoplasmic reticulum and function as chaperone for endoplasmic reticulum-associated degradation	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

NoName (e-PCR)
- UniSTS:486946

SHGC-31784 (e-PCR)
- UniSTS:45685

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	IKR Inferred from Key Residues more info	PubMed
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein-folding chaperone binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in intracellular protein transport	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein secretion	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of MAP kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein folding	NAS Non-traceable Author Statement more info	PubMed
involved_in protein secretion	IEA Inferred from Electronic Annotation more info
involved_in protein unfolding	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum lumen	NAS Non-traceable Author Statement more info	PubMed
located_in melanosome	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
located_in smooth endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in transport vesicle	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: endoplasmic reticulum resident protein 29

Names: endoplasmic reticulum lumenal protein ERp28; endoplasmic reticulum resident protein 28; endoplasmic reticulum resident protein 31; epididymis secretory protein Li 107; protein disulfide isomerase family A, member 9

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_001034025.2 → NP_001029197.1 endoplasmic reticulum resident protein 29 isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate exon in the coding region that results in a frameshift and an early stop codon, compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AA412124, AC073575

Consensus CDS

CCDS44977.1

UniProtKB/Swiss-Prot

P30040

Related

ENSP00000412083.1, ENST00000455836.1

Conserved Domains (1) summary

cl00388
Location:33 → 50

Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
NM_006817.4 → NP_006808.1 endoplasmic reticulum resident protein 29 isoform 1 precursor

See identical proteins and their annotated locations for NP_006808.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC073575, BC101493

Consensus CDS

CCDS9158.1

UniProtKB/Swiss-Prot

C9J183, P30040, Q3MJC3, Q6FHT4

UniProtKB/TrEMBL

V9HW71

Related

ENSP00000261735.3, ENST00000261735.4

Conserved Domains (2) summary

cd03007
Location:36 → 149

PDI_a_ERp29_N; PDIa family, endoplasmic reticulum protein 29 (ERp29) subfamily; ERp29 is a ubiquitous ER-resident protein expressed in high levels in secretory cells. It forms homodimers and higher oligomers in vitro and in vivo. It contains a redox inactive TRX-like ...

pfam07749
Location:156 → 251

ERp29; Endoplasmic reticulum protein ERp29, C-terminal domain