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Aliases for ERP29 Gene

Aliases for ERP29 Gene

  • Endoplasmic Reticulum Protein 29 2 3 5
  • Protein Disulfide Isomerase Family A, Member 9 2 3
  • Endoplasmic Reticulum Resident Protein 28 3 4
  • Endoplasmic Reticulum Resident Protein 31 3 4
  • C12orf8 3 4
  • ERp28 3 4
  • ERp31 3 4
  • Endoplasmic Reticulum Lumenal Protein ERp28 3
  • Endoplasmic Reticulum Resident Protein 29 3
  • Epididymis Secretory Protein Li 107 3
  • Chromosome 12 Open Reading Frame 8 2
  • HEL-S-107 3
  • PDI-DB 3
  • PDIA9 3
  • ERP28 4
  • ERp29 4

External Ids for ERP29 Gene

Previous HGNC Symbols for ERP29 Gene

  • C12orf8

Previous GeneCards Identifiers for ERP29 Gene

  • GC12P110914
  • GC12P110935
  • GC12P112451
  • GC12P109464

Summaries for ERP29 Gene

Entrez Gene Summary for ERP29 Gene

  • 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]

GeneCards Summary for ERP29 Gene

ERP29 (Endoplasmic Reticulum Protein 29) is a Protein Coding gene. Diseases associated with ERP29 include Intrahepatic Cholestasis. Among its related pathways are Protein processing in endoplasmic reticulum. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein disulfide isomerase activity.

UniProtKB/Swiss-Prot for ERP29 Gene

  • Does not seem to be a disulfide isomerase. Plays an important role in the processing of secretory proteins within the endoplasmic reticulum (ER), possibly by participating in the folding of proteins in the ER.

Gene Wiki entry for ERP29 Gene

Additional gene information for ERP29 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERP29 Gene

Genomics for ERP29 Gene

GeneHancer (GH) Regulatory Elements for ERP29 Gene

Promoters and enhancers for ERP29 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J112011 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.2 248 4.3 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 TMEM116 ERP29 HSPA8P14 MAPKAPK5 RPL6 HECTD4 BRAP ADAM1A NAA25 PCNPP1
GH12J112124 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 10.7 +115.0 115045 7.4 HDGF PKNOX1 SMAD1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 TRAFD1 TMEM116 MAPKAPK5 BRAP ADAM1A NAA25 ERP29 GC12P112151
GH12J111975 Enhancer 0.8 ENCODE 11.9 -37.5 -37458 1.2 PKNOX1 INSM2 FEZF1 GTF3C2 ZNF335 ZNF366 OVOL3 CEBPB TSHZ1 ZNF843 MAPKAPK5 HSPA8P14 ERP29 TMEM116 ALDH2 ATXN2 PHETA1 GC12P111986 ADAM1B
GH12J111942 Enhancer 0.7 ENCODE 11.9 -70.8 -70779 0.7 ZBTB21 ZSCAN4 KLF17 ZNF324 ZFHX2 EGR1 CREM EGR2 YY2 ZFP37 TMEM116 ADAM1A ERP29 ADAM1B GC12P111986
GH12J112347 Enhancer 0.8 Ensembl ENCODE 10.1 +334.5 334453 0.8 CBFB JUNB EBF1 POLR2A IKZF1 EED FOS IKZF2 CREM RUNX3 TMEM116 ERP29 GC12P112348 GC12P112372 HECTD4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ERP29 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ERP29 gene promoter:
  • POU3F1
  • GATA-3
  • Cdc5
  • E47
  • AML1a
  • MyoD
  • TBP
  • POU2F1
  • POU2F1a
  • Max

Genomic Locations for ERP29 Gene

Genomic Locations for ERP29 Gene
chr12:112,013,316-112,023,451
(GRCh38/hg38)
Size:
10,136 bases
Orientation:
Plus strand
chr12:112,451,120-112,461,255
(GRCh37/hg19)
Size:
10,136 bases
Orientation:
Plus strand

Genomic View for ERP29 Gene

Genes around ERP29 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERP29 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERP29 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERP29 Gene

Proteins for ERP29 Gene

  • Protein details for ERP29 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P30040-ERP29_HUMAN
    Recommended name:
    Endoplasmic reticulum resident protein 29
    Protein Accession:
    P30040
    Secondary Accessions:
    • C9J183
    • Q3MJC3
    • Q6FHT4

    Protein attributes for ERP29 Gene

    Size:
    261 amino acids
    Molecular mass:
    28993 Da
    Quaternary structure:
    • Homodimer. Part of a large chaperone multiprotein complex comprising CABP1, DNAJB11, HSP90B1, HSPA5, HYOU, PDIA2, PDIA4, PPIB, SDF2L1, UGT1A1 and very small amounts of ERP29, but not, or at very low levels, CALR nor CANX.

    Three dimensional structures from OCA and Proteopedia for ERP29 Gene

    Alternative splice isoforms for ERP29 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERP29 Gene

Post-translational modifications for ERP29 Gene

  • Ubiquitination at isoforms=243, isoforms=182, and Lys48
  • Modification sites at PhosphoSitePlus

Other Protein References for ERP29 Gene

No data available for DME Specific Peptides for ERP29 Gene

Domains & Families for ERP29 Gene

Gene Families for ERP29 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for ERP29 Gene

Suggested Antigen Peptide Sequences for ERP29 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ERP29: view

No data available for UniProtKB/Swiss-Prot for ERP29 Gene

Function for ERP29 Gene

Molecular function for ERP29 Gene

UniProtKB/Swiss-Prot Function:
Does not seem to be a disulfide isomerase. Plays an important role in the processing of secretory proteins within the endoplasmic reticulum (ER), possibly by participating in the folding of proteins in the ER.

Gene Ontology (GO) - Molecular Function for ERP29 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003756 NOT protein disulfide isomerase activity IKR 9738895
GO:0042803 protein homodimerization activity ISS --
GO:0051087 chaperone binding ISS --
genes like me logo Genes that share ontologies with ERP29: view
genes like me logo Genes that share phenotypes with ERP29: view

Animal Model Products

CRISPR Products

miRNA for ERP29 Gene

miRTarBase miRNAs that target ERP29

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERP29

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ERP29 Gene

Localization for ERP29 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERP29 Gene

Endoplasmic reticulum lumen. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ERP29 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
cytoskeleton 2
nucleus 2
mitochondrion 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubules (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ERP29 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA,IEA 9738895
GO:0005788 endoplasmic reticulum lumen IEA,NAS 22064321
GO:0005790 smooth endoplasmic reticulum ISS --
GO:0009986 cell surface IDA 19995400
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with ERP29: view

Pathways & Interactions for ERP29 Gene

genes like me logo Genes that share pathways with ERP29: view

Pathways by source for ERP29 Gene

1 KEGG pathway for ERP29 Gene

Gene Ontology (GO) - Biological Process for ERP29 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity IDA 22064321
GO:0001934 positive regulation of protein phosphorylation IDA 22064321
GO:0006457 protein folding NAS 9738895
GO:0006886 intracellular protein transport NAS 9738895
GO:0009306 protein secretion IEA --
genes like me logo Genes that share ontologies with ERP29: view

No data available for SIGNOR curated interactions for ERP29 Gene

Drugs & Compounds for ERP29 Gene

(1) Drugs for ERP29 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with ERP29: view

Transcripts for ERP29 Gene

mRNA/cDNA for ERP29 Gene

Unigene Clusters for ERP29 Gene

Endoplasmic reticulum protein 29:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERP29

Alternative Splicing Database (ASD) splice patterns (SP) for ERP29 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b
SP1:
SP2: -

Relevant External Links for ERP29 Gene

GeneLoc Exon Structure for
ERP29
ECgene alternative splicing isoforms for
ERP29

Expression for ERP29 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ERP29 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ERP29 Gene



Protein tissue co-expression partners for ERP29 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ERP29 Gene:

ERP29

SOURCE GeneReport for Unigene cluster for ERP29 Gene:

Hs.75841

mRNA Expression by UniProt/SwissProt for ERP29 Gene:

P30040-ERP29_HUMAN
Tissue specificity: Ubiquitous. Mostly expressed in secretory tissues.

Evidence on tissue expression from TISSUES for ERP29 Gene

  • Liver(4.6)
  • Lung(4.6)
  • Nervous system(4.6)
  • Blood(3.6)
  • Intestine(3)
  • Pancreas(2.9)
  • Skin(2.8)
  • Thyroid gland(2.3)
  • Eye(2.2)
  • Spleen(2.2)
  • Gall bladder(2)
  • Kidney(2)
  • Lymph node(2)
  • Stomach(2)
genes like me logo Genes that share expression patterns with ERP29: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ERP29 Gene

Orthologs for ERP29 Gene

This gene was present in the common ancestor of animals.

Orthologs for ERP29 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ERP29 34 33
  • 99.74 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ERP29 34 33
  • 92.12 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ERP29 34 33
  • 90.83 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Erp29 16 34 33
  • 87.39 (n)
rat
(Rattus norvegicus)
Mammalia Erp29 33
  • 87.05 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ERP29 34
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ERP29 34
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves ERP29 34 33
  • 71.84 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ERP29 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia erp29 33
  • 61.16 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000395 33
  • 51.02 (n)
fruit fly
(Drosophila melanogaster)
Insecta wbl 34 33
  • 50.75 (n)
OneToOne
Species where no ortholog for ERP29 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ERP29 Gene

ENSEMBL:
Gene Tree for ERP29 (if available)
TreeFam:
Gene Tree for ERP29 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ERP29: view image

Paralogs for ERP29 Gene

Pseudogenes.org Pseudogenes for ERP29 Gene

genes like me logo Genes that share paralogs with ERP29: view

No data available for Paralogs for ERP29 Gene

Variants for ERP29 Gene

Sequence variations from dbSNP and Humsavar for ERP29 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000382410 -- 112,016,099(+) T/G intron_variant
rs1000428872 -- 112,022,688(+) G/A 3_prime_UTR_variant
rs1000464548 -- 112,014,198(+) C/G intron_variant
rs1000578344 -- 112,013,963(+) G/A/T intron_variant
rs1000763529 -- 112,021,218(+) A/G intron_variant

Variation tolerance for ERP29 Gene

Residual Variation Intolerance Score: 67.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.42; 42.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ERP29 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERP29

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ERP29 Gene

Disorders for ERP29 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ERP29 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
intrahepatic cholestasis
  • intrahepatic cholestasis of pregnancy
- elite association - COSMIC cancer census association via MalaCards
Search ERP29 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ERP29

genes like me logo Genes that share disorders with ERP29: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ERP29 Gene

Publications for ERP29 Gene

  1. ERp28, a human endoplasmic-reticulum-lumenal protein, is a member of the protein disulfide isomerase family but lacks a CXXC thioredoxin-box motif. (PMID: 9738895) Ferrari DM … Söling HD (European journal of biochemistry 1998) 2 3 4 22 58
  2. Human ERp29: isolation, primary structural characterisation and two-dimensional gel mapping. (PMID: 11271497) Hubbard MJ … McHugh NJ (Electrophoresis 2000) 3 4 22 58
  3. Crystal structure and functional analysis of the protein disulfide isomerase-related protein ERp29. (PMID: 19084538) Barak NN … Ferrari DM (Journal of molecular biology 2009) 3 22 58
  4. Cytokeratin 19 regulates endoplasmic reticulum stress and inhibits ERp29 expression via p38 MAPK/XBP-1 signaling in breast cancer cells. (PMID: 19265690) Bambang IF … Zhang D (Experimental cell research 2009) 3 22 58
  5. ERp29 restricts Connexin43 oligomerization in the endoplasmic reticulum. (PMID: 19321666) Das S … Koval M (Molecular biology of the cell 2009) 3 22 58

Products for ERP29 Gene

Sources for ERP29 Gene

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