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Aliases for ERP29 Gene

Aliases for ERP29 Gene

  • Endoplasmic Reticulum Protein 29 2 3 5
  • Endoplasmic Reticulum Resident Protein 28 3 4
  • Endoplasmic Reticulum Resident Protein 31 3 4
  • C12orf8 3 4
  • ERp28 3 4
  • ERp31 3 4
  • Protein Disulfide Isomerase Family A, Member 9 3
  • Endoplasmic Reticulum Lumenal Protein ERp28 3
  • Protein Disulfide Isomerase Family A 2
  • Epididymis Secretory Protein Li 107 3
  • Chromosome 12 Open Reading Frame 8 2
  • HEL-S-107 3
  • Member 9 2
  • PDI-DB 3
  • PDIA9 3
  • 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 reticuloplasmin, a protein which resides in the lumen of the endoplasmic reticulum (ER). The protein shows sequence similarity to the protein disulfide isomerase family. However, it lacks the thioredoxin motif characteristic of this family, suggesting that this protein does not function as a disulfide isomerase. The 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, Jul 2008]

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. 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

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

Genomics for ERP29 Gene

Regulatory Elements for ERP29 Gene

Enhancers for ERP29 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ERP29 on UCSC Golden Path with GeneCards custom track

Promoters for ERP29 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ERP29 on UCSC Golden Path with GeneCards custom track

Genomic Location for ERP29 Gene

Chromosome:
12
Start:
112,013,316 bp from pter
End:
112,023,451 bp from pter
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

Proteomics data for ERP29 Gene at MOPED

Post-translational modifications for ERP29 Gene

  • Ubiquitination at Lys 48, Lys 182, and Lys 243
  • Modification sites at PhosphoSitePlus

Other Protein References for ERP29 Gene

Antibody Products

No data available for DME Specific Peptides for ERP29 Gene

Domains & Families for ERP29 Gene

Gene Families for ERP29 Gene

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.
genes like me logo Genes that share phenotypes with ERP29: view

Animal Model Products

miRNA for ERP29 Gene

miRTarBase miRNAs that target ERP29

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for ERP29 Gene COMPARTMENTS Subcellular localization image for ERP29 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
cytoskeleton 2
nucleus 2
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ERP29 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005788 endoplasmic reticulum lumen IEA,NAS 22064321
GO:0030133 transport vesicle ISS --
GO:0042470 melanosome IEA --
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:0001934 positive regulation of protein phosphorylation IDA 22064321
GO:0006886 intracellular protein transport NAS 9738895
GO:0009306 protein secretion IEA --
GO:0010629 negative regulation of gene expression IDA 22064321
GO:0043335 protein unfolding NAS 22064321
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) Additional Compounds for ERP29 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ERP29: view

Transcripts for ERP29 Gene

Unigene Clusters for ERP29 Gene

Endoplasmic reticulum protein 29:
Representative Sequences:

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 for ERP29 Gene

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



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.
genes like me logo Genes that share expression patterns with ERP29: view

Protein tissue co-expression partners for ERP29 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia ERP29 35
  • 90.83 (n)
  • 91.09 (a)
ERP29 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ERP29 35
  • 92.12 (n)
  • 92.64 (a)
ERP29 36
  • 63 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Erp29 35
  • 87.39 (n)
  • 89.19 (a)
Erp29 16
Erp29 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ERP29 35
  • 99.74 (n)
  • 99.62 (a)
ERP29 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Erp29 35
  • 87.05 (n)
  • 90.38 (a)
oppossum
(Monodelphis domestica)
Mammalia ERP29 36
  • 51 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ERP29 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves ERP29 35
  • 71.84 (n)
  • 74.14 (a)
ERP29 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ERP29 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia erp29 35
  • 61.16 (n)
  • 62.61 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000395 35
  • 51.02 (n)
  • 36.62 (a)
fruit fly
(Drosophila melanogaster)
Insecta wbl 35
  • 50.75 (n)
  • 33.78 (a)
wbl 36
  • 29 (a)
OneToOne
Species with no ortholog for ERP29:
  • 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)

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 Sequence Context AA Info Type
rs7114 -- 112,022,945(+) GACAG(A/G)TGTAA utr-variant-3-prime
rs10849993 -- 112,016,808(+) ATGGC(A/G)TGAAC intron-variant
rs10849994 -- 112,017,223(+) TGTTG(A/G)GCACT intron-variant
rs2141089 -- 112,021,648(-) tactc(A/G)agagg intron-variant
rs16941831 -- 112,016,155(+) GATCG(C/T)CTGCG 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)

Relevant External Links for ERP29 Gene

HapMap Linkage Disequilibrium report
ERP29

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

Relevant External Links for ERP29

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 D.M. … Soeling H.D. (Eur. J. Biochem. 1998) 2 3 4 23 67
  2. Cytokeratin 19 regulates endoplasmic reticulum stress and inhibits ERp29 expression via p38 MAPK/XBP-1 signaling in breast cancer cells. (PMID: 19265690) Bambang I.F. … Zhang D. (Exp. Cell Res. 2009) 3 23
  3. ERp29 restricts Connexin43 oligomerization in the endoplasmic reticulum. (PMID: 19321666) Das S. … Koval M. (Mol. Biol. Cell 2009) 3 23
  4. Crystal structure and functional analysis of the protein disulfide isomerase-related protein ERp29. (PMID: 19084538) Barak N.N. … Ferrari D.M. (J. Mol. Biol. 2009) 3 23
  5. ERp29, an endoplasmic reticulum secretion factor is involved in the growth of breast tumor xenografts. (PMID: 18395818) Mkrtchian S. … Kiaris H. (Mol. Carcinog. 2008) 3 23

Products for ERP29 Gene

Sources for ERP29 Gene

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