Free for academic non-profit institutions. Other users need a Commercial license

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
  • Thioredoxin Domain-Containing Protein 4 3 4
  • ER Protein 44 3 4
  • TXNDC4 3 4
  • Endoplasmic Reticulum Resident Protein 44 KDa 3
  • Endoplasmic Reticulum Resident Protein 44 3
  • KIAA0573 4
  • PDIA10 3
  • 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

GeneCards Summary for ERP44 Gene

ERP44 (Endoplasmic Reticulum Protein 44) is a Protein Coding gene. Diseases associated with ERP44 include Multiple Sulfatase Deficiency. Among its related pathways are Immune System and Translational Control. 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 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 Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERP44 Gene

Genomics for ERP44 Gene

Regulatory Elements for ERP44 Gene

Enhancers for ERP44 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F100131 0.5 ENCODE 12.5 -32.4 -32352 0.1 RN7SL75P INVS ERP44 GC09P100140 ENSG00000270995
GH09F100058 0.9 Ensembl 12.1 +40.2 40152 1.4 PKNOX1 TBL1XR1 BMI1 RELA ZNF121 CBX5 EED ETV6 RCOR1 CREM STX17 RN7SL75P ERP44 INVS LOC105376176
GH09F100066 0.9 Ensembl ENCODE 11.9 +32.3 32254 0.8 OSR2 IRF2 PKNOX1 SMARCA4 EED EBF1 IRF1 INVS STX17 ERP44 RN7SL75P LOC105376176
GH09F100064 0.2 ENCODE 11.9 +33.9 33858 1.6 CEBPB CEBPG FOS INVS ERP44 RN7SL75P LOC105376176
GH09F100144 1.4 FANTOM5 Ensembl ENCODE 11.6 -46.7 -46723 2.0 BCOR ARNT TAL1 PYGO2 CHAMP1 POLR2A NCOR1 ZSCAN29 NR2F6 TRIM24 INVS STX17 RN7SL75P ERP44 GC09P100140 NANOGP5
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ERP44 on UCSC Golden Path with GeneCards custom track

Promoters for ERP44 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001310084 52 3200 PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF143 KLF13

Genomic Location for ERP44 Gene

Chromosome:
9
Start:
99,979,179 bp from pter
End:
100,099,052 bp from pter
Size:
119,874 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 Thr 367, Thr 369, Ser 380, Ser 381, Ser 385, Ser 386, and Ser 393
  • Modification sites at PhosphoSitePlus

Other Protein References for ERP44 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ERP44 (ERP44)

No data available for DME Specific Peptides for ERP44 Gene

Domains & Families for ERP44 Gene

Gene Families for ERP44 Gene

Protein Domains for ERP44 Gene

Suggested Antigen Peptide Sequences for ERP44 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BS26

UniProtKB/Swiss-Prot:

ERP44_HUMAN :
  • Contains 1 thioredoxin domain.
Domain:
  • Contains 1 thioredoxin domain.
genes like me logo Genes that share domains with ERP44: view

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.

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:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
Jensen Localization Image for ERP44 Gene COMPARTMENTS Subcellular localization image for ERP44 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
lysosome 1
mitochondrion 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ERP44 Gene

GO ID Qualified GO term Evidence PubMed IDs
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
GO:0009986 cell surface IDA 19995400
genes like me logo Genes that share ontologies with ERP44: view

Pathways & Interactions for ERP44 Gene

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

Pathways by source for ERP44 Gene

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

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:0034976 response to endoplasmic reticulum stress IDA 11847130
GO:0045454 cell redox homeostasis TAS 11847130
genes like me logo Genes that share ontologies with ERP44: view

No data available for SIGNOR curated interactions for ERP44 Gene

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 0
genes like me logo Genes that share compounds with ERP44: view

Transcripts for ERP44 Gene

mRNA/cDNA for ERP44 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(316) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ERP44 Gene

Endoplasmic reticulum protein 44:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
ERP44

Expression for ERP44 Gene

mRNA expression in normal human tissues 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, PaxDb, MaxQB, and MOPED for ERP44 Gene



Protein tissue co-expression partners for ERP44 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ERP44 Gene:

ERP44

SOURCE GeneReport for Unigene cluster for ERP44 Gene:

Hs.154023
genes like me logo Genes that share expression patterns with ERP44: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.92 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 97 (a)
OneToMany
ERP44 34
  • 84.68 (n)
-- 35
  • 79 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ERP44 34 35
  • 94.01 (n)
rat
(Rattus norvegicus)
Mammalia Erp44 34
  • 90.48 (n)
mouse
(Mus musculus)
Mammalia Erp44 34 16 35
  • 89.9 (n)
oppossum
(Monodelphis domestica)
Mammalia ERP44 35
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ERP44 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves ERP44 34 35
  • 79.64 (n)
lizard
(Anolis carolinensis)
Reptilia ERP44 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia erp44 34
  • 76.98 (n)
zebrafish
(Danio rerio)
Actinopterygii erp44 34 35
  • 70.11 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9911 34 35
  • 52.81 (n)
CG10029 35
  • 42 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000909 34
  • 50.78 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_C30H7.2 34
  • 53.44 (n)
C30H7.2 35
  • 43 (a)
OneToMany
C06A6.5 35
  • 40 (a)
OneToMany
F42G8.7 35
  • 16 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PDI1 35
  • 17 (a)
ManyToMany
EUG1 35
  • 15 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 52 (a)
OneToOne
Species where no ortholog for ERP44 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)
  • 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 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)

Paralogs for ERP44 Gene

Paralogs for ERP44 Gene

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

Pseudogenes.org Pseudogenes for ERP44 Gene

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

Variants for ERP44 Gene

Sequence variations from dbSNP and Humsavar for ERP44 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs10156395 -- 100,050,760(+) TTTGC(C/T)CCCAT intron-variant
rs10217715 -- 100,066,277(+) TTTTA(A/G)AAAAA intron-variant
rs10673779 -- 100,000,454(+) AAAAA(-/A)CTTTC intron-variant
rs10739795 -- 100,063,785(+) TCCAG(C/T)TTATT intron-variant
rs10760707 -- 99,985,906(+) CGGCA(A/T)TCTCT intron-variant

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)

Relevant External Links for ERP44 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERP44

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERP44 Gene

Disorders for ERP44 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ERP44 Gene - From: GeneCards

Disorder Aliases PubMed IDs
multiple sulfatase deficiency
  • mucosulfatidosis
- elite association - COSMIC cancer census association via MalaCards
Search ERP44 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ERP44

Genetic Association Database (GAD)
ERP44
Human Genome Epidemiology (HuGE) Navigator
ERP44
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ERP44
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. (EMBO J. 2002) 2 3 4 22 64
  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 64
  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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  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 M.P. (Hum. Mol. Genet. 2008) 3 22 64
  5. Crystal structure of human ERp44 shows a dynamic functional modulation by its carboxy-terminal tail. (PMID: 18552768) Wang L. … Wang C.-C. (EMBO Rep. 2008) 3 4 64

Products for ERP44 Gene

Sources for ERP44 Gene

Content
Loading form....