This gene encodes a member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. It has an inferred N-terminal signal peptide, a catalytically active thioredoxin (TRX) domain, two TRX-like domains and a C-terminal ER-retention sequence. This protein functions as a pH-regulated chaperone of the secretory pathway and likely plays a role in protei... See more...

Aliases for ERP44 Gene

Aliases for ERP44 Gene

  • Endoplasmic Reticulum Protein 44 2 3 5
  • Thioredoxin Domain Containing 4 (Endoplasmic Reticulum) 2 3
  • Protein Disulfide Isomerase Family A, Member 10 2 3
  • Endoplasmic Reticulum Resident Protein 44 3 4
  • Thioredoxin Domain-Containing Protein 4 3 4
  • ER Protein 44 3 4
  • KIAA0573 2 4
  • PDIA10 2 3
  • TXNDC4 3 4
  • Endoplasmic Reticulum Resident Protein 44 KDa 3
  • Epididymis Secretory Sperm Binding Protein 3
  • ERP44 5
  • ERp44 4

External Ids for ERP44 Gene

Previous HGNC Symbols for ERP44 Gene

  • TXNDC4

Previous GeneCards Identifiers for ERP44 Gene

  • GC09M101782
  • GC09M102742
  • GC09M072340

Summaries for ERP44 Gene

Entrez Gene Summary for ERP44 Gene

  • This gene encodes a member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. It has an inferred N-terminal signal peptide, a catalytically active thioredoxin (TRX) domain, two TRX-like domains and a C-terminal ER-retention sequence. This protein functions as a pH-regulated chaperone of the secretory pathway and likely plays a role in protein quality control at the endoplasmic reticulum - Golgi interface. [provided by RefSeq, Dec 2016]

GeneCards Summary for ERP44 Gene

ERP44 (Endoplasmic Reticulum Protein 44) is a Protein Coding gene. Diseases associated with ERP44 include Multiple Sulfatase Deficiency and Heavy Chain Disease. Among its related pathways are Translational Control and Innate Immune System. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein disulfide isomerase activity. An important paralog of this gene is PDIA4.

UniProtKB/Swiss-Prot Summary for ERP44 Gene

  • Mediates thiol-dependent retention in the early secretory pathway, forming mixed disulfides with substrate proteins through its conserved CRFS motif. Inhibits the calcium channel activity of ITPR1. May have a role in the control of oxidative protein folding in the endoplasmic reticulum. Required to retain ERO1A and ERO1B in the endoplasmic reticulum.

Gene Wiki entry for ERP44 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ERP44 Gene

Genomics for ERP44 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ERP44 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
GH09J100097 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.1 100 3.4 BCLAF1 SP1 ZNF207 ZNF600 IKZF1 SIX5 ZNF580 ZNF592 CEBPA POLR2A INVS ERP44 lnc-STX17-2 STX17 TEX10 TMEFF1 piR-61614-114
GH09J100350 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 13.6 -253.6 -253601 3.6 SP1 ZNF207 NCOR1 MYC ZNF592 KLF9 POLR2A ZIC2 ZBTB10 MXD4 TEX10 HSALNG0073278 LOC105376177 lnc-MSANTD3-1 INVS STX17 ERP44 RN7SL75P TMEFF1 HSALNG0073279
GH09J100598 Promoter/Enhancer 1.2 ENCODE CraniofacialAtlas 13.6 -499.8 -499812 1.3 MYC ZNF600 POLR2A YY1 ETS1 KMT2B ELF1 SP2 SAP130 TARDBP TEX10 INVS ERP44 RN7SL75P CAVIN4 STX17 MSANTD3 piR-38580-392 piR-47274-003 PLPPR1
GH09J100144 Enhancer 1 FANTOM5 ENCODE 11.6 -46.8 -46775 2 NCOR1 IKZF1 ZNF592 NFIC MBD2 NBN TAL1 PRDM10 HLTF IRF9 INVS STX17 RN7SL75P ERP44 piR-32804-038 RF00017-7183 TEX10
GH09J100069 Enhancer 0.8 Ensembl 11.9 +28.2 28200 2.8 NCOR1 IKZF1 NFIC ARNT NFATC3 TAF9B FOXA2 TAL1 ZNF316 NFE2 piR-56759-585 ERP44 INVS RN7SL75P STX17 piR-41111-041
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ERP44 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ERP44

Top Transcription factor binding sites by QIAGEN in the ERP44 gene promoter:
  • C/EBPalpha
  • HFH-1
  • HNF-4alpha2
  • HTF
  • NF-kappaB
  • NF-kappaB1
  • POU3F1

Genomic Locations for ERP44 Gene

Latest Assembly
chr9:99,979,185-100,099,000
(GRCh38/hg38)
Size:
119,816 bases
Orientation:
Minus strand

Previous Assembly
chr9:102,741,467-102,861,282
(GRCh37/hg19 by Entrez Gene)
Size:
119,816 bases
Orientation:
Minus strand

chr9:102,741,461-102,861,322
(GRCh37/hg19 by Ensembl)
Size:
119,862 bases
Orientation:
Minus strand

Genomic View for ERP44 Gene

Genes around ERP44 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERP44 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERP44 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERP44 Gene

Proteins for ERP44 Gene

  • Protein details for ERP44 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BS26-ERP44_HUMAN
    Recommended name:
    Endoplasmic reticulum resident protein 44
    Protein Accession:
    Q9BS26
    Secondary Accessions:
    • O60319
    • Q4VXC1
    • Q5VWZ7
    • Q6UW14
    • Q8WX67

    Protein attributes for ERP44 Gene

    Size:
    406 amino acids
    Molecular mass:
    46971 Da
    Quaternary structure:
    • Forms mixed disulfides with both ERO1A and ERO1B and cargo folding intermediates. Directly interacts with ITPR1 in a pH-, redox state- and calcium-dependent manner, but not with ITPR2 or ITPR3. The strength of this interaction inversely correlates with calcium concentration (By similarity).
    SequenceCaution:
    • Sequence=BAA25499.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ERP44 Gene

neXtProt entry for ERP44 Gene

Post-translational modifications for ERP44 Gene

  • Glycosylation at Thr367, Thr369, Ser380, Ser381, Ser385, Ser386, and Ser393
  • Modification sites at PhosphoSitePlus

Other Protein References for ERP44 Gene

ENSEMBL proteins:
REFSEQ proteins:

Protein products for research

  • Abcam proteins for ERP44

No data available for DME Specific Peptides for ERP44 Gene

Domains & Families for ERP44 Gene

Gene Families for ERP44 Gene

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

Protein Domains for ERP44 Gene

InterPro:
Blocks:
  • Thioredoxin type domain

Suggested Antigen Peptide Sequences for ERP44 Gene

GenScript: Design optimal peptide antigens:
  • Thioredoxin domain-containing protein 4 (ERP44_HUMAN)
genes like me logo Genes that share domains with ERP44: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ERP44 Gene

Function for ERP44 Gene

Molecular function for ERP44 Gene

UniProtKB/Swiss-Prot Function:
Mediates thiol-dependent retention in the early secretory pathway, forming mixed disulfides with substrate proteins through its conserved CRFS motif. Inhibits the calcium channel activity of ITPR1. May have a role in the control of oxidative protein folding in the endoplasmic reticulum. Required to retain ERO1A and ERO1B in the endoplasmic reticulum.
UniProtKB/Swiss-Prot Induction:
Up-regulated by inducers of the unfolded protein response (UPR), including tunicamycin and dithiothreitol.

Phenotypes From GWAS Catalog for ERP44 Gene

Gene Ontology (GO) - Molecular Function for ERP44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003756 protein disulfide isomerase activity IDA 11847130
GO:0005515 protein binding IPI 17805346
genes like me logo Genes that share ontologies with ERP44: view
genes like me logo Genes that share phenotypes with ERP44: view

Animal Models for ERP44 Gene

MGI Knock Outs for ERP44:
  • Erp44 Erp44<tm1a(KOMP)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERP44

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ERP44 Gene

Localization for ERP44 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERP44 Gene

Endoplasmic reticulum lumen.

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 ERP44 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
plasma membrane 2
mitochondrion 2
cytosol 2
cytoskeleton 1
peroxisome 1
nucleus 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ERP44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005783 endoplasmic reticulum IEA --
GO:0005788 endoplasmic reticulum lumen IEA,IDA 11847130
GO:0005789 endoplasmic reticulum membrane IDA 11847130
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IDA 15308636
genes like me logo Genes that share ontologies with ERP44: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ERP44 Gene

Pathways & Interactions for ERP44 Gene

PathCards logo

SuperPathways for ERP44 Gene

genes like me logo Genes that share pathways with ERP44: view

Pathways by source for ERP44 Gene

3 Reactome pathways for ERP44 Gene
1 Cell Signaling Technology pathway for ERP44 Gene

SIGNOR curated interactions for ERP44 Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for ERP44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding IDA 11847130
GO:0006986 response to unfolded protein IDA 11847130
GO:0009100 glycoprotein metabolic process IDA 11847130
GO:0018215 protein phosphopantetheinylation IEA --
GO:0034976 response to endoplasmic reticulum stress IDA 11847130
genes like me logo Genes that share ontologies with ERP44: view

Drugs & Compounds for ERP44 Gene

(2) Drugs for ERP44 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6959
genes like me logo Genes that share compounds with ERP44: view

Transcripts for ERP44 Gene

mRNA/cDNA for ERP44 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERP44

Alternative Splicing Database (ASD) splice patterns (SP) for ERP44 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1:
SP2: - -

Relevant External Links for ERP44 Gene

GeneLoc Exon Structure for
ERP44

Expression for ERP44 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ERP44 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ERP44 Gene

This gene is overexpressed in Oral epithelium (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ERP44 Gene



Protein tissue co-expression partners for ERP44 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ERP44

SOURCE GeneReport for Unigene cluster for ERP44 Gene:

Hs.154023

Evidence on tissue expression from TISSUES for ERP44 Gene

  • Nervous system(4.7)
  • Liver(4.5)
  • Blood(4.5)
  • Heart(2.4)
  • Kidney(2.4)
  • Pancreas(2.2)
  • Spleen(2.1)
  • Muscle(2.1)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with ERP44: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ERP44 Gene

Orthologs for ERP44 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ERP44 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ERP44 29 30
  • 99.92 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 30
  • 97 (a)
OneToMany
ERP44 29
  • 84.68 (n)
-- 30
  • 79 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia ERP44 29 30
  • 94.01 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Erp44 29
  • 90.48 (n)
Mouse
(Mus musculus)
Mammalia Erp44 29 16 30
  • 89.9 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ERP44 30
  • 87 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ERP44 30
  • 85 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ERP44 29 30
  • 79.64 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ERP44 30
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia erp44 29
  • 76.98 (n)
Zebrafish
(Danio rerio)
Actinopterygii erp44 29 30
  • 70.11 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG9911 29 30
  • 52.81 (n)
OneToMany
CG10029 30
  • 42 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000909 29
  • 50.78 (n)
Worm
(Caenorhabditis elegans)
Secernentea CELE_C30H7.2 29
  • 53.44 (n)
C30H7.2 30
  • 43 (a)
OneToMany
C06A6.5 30
  • 40 (a)
OneToMany
F42G8.7 30
  • 16 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PDI1 30
  • 17 (a)
ManyToMany
EUG1 30
  • 15 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 52 (a)
OneToOne
Species where no ortholog for ERP44 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 Vase (Ciona intestinalis)
  • 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)

Evolution for ERP44 Gene

ENSEMBL:
Gene Tree for ERP44 (if available)
TreeFam:
Gene Tree for ERP44 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ERP44: view image
Alliance of Genome Resources:
Additional Orthologs for ERP44

Paralogs for ERP44 Gene

(1) SIMAP similar genes for ERP44 Gene using alignment to 2 proteins:

  • ERP44_HUMAN
  • L8EAR9_HUMAN

Pseudogenes.org Pseudogenes for ERP44 Gene

genes like me logo Genes that share paralogs with ERP44: view

Variants for ERP44 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ERP44 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ERP44 Gene

Variant ID Type Subtype PubMed ID
esv2576011 CNV deletion 19546169
esv2738831 CNV deletion 23290073
esv2738832 CNV deletion 23290073
esv2738833 CNV deletion 23290073
esv2738834 CNV deletion 23290073
esv3304284 CNV mobile element insertion 20981092
esv3401322 CNV insertion 20981092
esv3422744 CNV insertion 20981092
nsv1048674 CNV gain 25217958
nsv1050510 CNV gain 25217958
nsv1117898 CNV deletion 24896259
nsv1141014 CNV deletion 24896259
nsv475140 CNV novel sequence insertion 20440878
nsv831668 CNV gain+loss 17160897
nsv950921 CNV duplication 24416366
nsv968738 CNV duplication 23825009

Variation tolerance for ERP44 Gene

Residual Variation Intolerance Score: 24.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.90; 18.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ERP44 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERP44
Leiden Open Variation Database (LOVD)
ERP44

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ERP44 Gene

Disorders for ERP44 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ERP44 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
multiple sulfatase deficiency
  • msd
heavy chain disease
  • hcd
stormorken syndrome
  • strmk
- elite association - COSMIC cancer census association via MalaCards
Search ERP44 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ERP44

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ERP44: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ERP44 Gene

Publications for ERP44 Gene

  1. ERp44, a novel endoplasmic reticulum folding assistant of the thioredoxin family. (PMID: 11847130) Anelli T … Sitia R (The EMBO journal 2002) 2 3 4 22
  2. Subtype-specific and ER lumenal environment-dependent regulation of inositol 1,4,5-trisphosphate receptor type 1 by ERp44. (PMID: 15652484) Higo T … Mikoshiba K (Cell 2005) 3 4 22
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 40
  4. Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44. (PMID: 18508857) Fraldi A … Cosma MP (Human molecular genetics 2008) 3 22
  5. Crystal structure of human ERp44 shows a dynamic functional modulation by its carboxy-terminal tail. (PMID: 18552768) Wang L … Wang CC (EMBO reports 2008) 3 4

Products for ERP44 Gene

Sources for ERP44 Gene