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Aliases for ERP44 Gene

Aliases for ERP44 Gene

  • Endoplasmic Reticulum Protein 44 2 3 5
  • Thioredoxin Domain Containing 4 (Endoplasmic Reticulum) 2 3
  • Thioredoxin Domain-Containing Protein 4 3 4
  • ER Protein 44 3 4
  • TXNDC4 3 4
  • Protein Disulfide Isomerase Family A, Member 10 3
  • Endoplasmic Reticulum Resident Protein 44 KDa 3
  • Protein Disulfide Isomerase Family A 2
  • Member 10 2
  • 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 Translational Control. GO annotations related to this gene include calcium ion binding and protein disulfide isomerase activity. An important paralog of this gene is PDIA3.

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 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 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

ENSRs around ERP44 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for ERP44 Gene at MOPED

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.
genes like me logo Genes that share phenotypes with ERP44: view

Animal Models for ERP44 Gene

MGI Knock Outs for ERP44:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

No data available for Gene Ontology (GO) - Cellular Components for ERP44 Gene

Pathways & Interactions for ERP44 Gene

SuperPathways for ERP44 Gene

Superpath Contained pathways
1 Translational Control
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

Gene Ontology (GO) - Biological Process for ERP44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009100 glycoprotein metabolic process IDA 11847130
GO:0034976 response to endoplasmic reticulum stress IDA 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:

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, MOPED, and MaxQB for ERP44 Gene



SOURCE GeneReport for Unigene cluster for ERP44 Gene Hs.154023

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

Protein tissue co-expression partners for ERP44 Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia ERP44 35
  • 94.01 (n)
  • 94.83 (a)
ERP44 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ERP44 35
  • 84.68 (n)
  • 82.08 (a)
-- 36
  • 79 (a)
OneToMany
-- 36
  • 97 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Erp44 35
  • 89.9 (n)
  • 93.1 (a)
Erp44 16
Erp44 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ERP44 35
  • 99.92 (n)
  • 100 (a)
ERP44 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Erp44 35
  • 90.48 (n)
  • 93.1 (a)
oppossum
(Monodelphis domestica)
Mammalia ERP44 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ERP44 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves ERP44 35
  • 79.64 (n)
  • 83.99 (a)
ERP44 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ERP44 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia erp44 35
  • 76.98 (n)
  • 81.84 (a)
zebrafish
(Danio rerio)
Actinopterygii erp44 35
  • 70.11 (n)
  • 77.83 (a)
erp44 36
  • 77 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9911 35
  • 52.81 (n)
  • 49.74 (a)
CG9911 36
  • 48 (a)
OneToMany
CG10029 36
  • 42 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000909 35
  • 50.78 (n)
  • 51.04 (a)
worm
(Caenorhabditis elegans)
Secernentea CELE_C30H7.2 35
  • 53.44 (n)
  • 46.74 (a)
C06A6.5 36
  • 40 (a)
OneToMany
C30H7.2 36
  • 43 (a)
OneToMany
F42G8.7 36
  • 16 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EUG1 36
  • 15 (a)
ManyToMany
PDI1 36
  • 17 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
OneToOne
Species with no ortholog for ERP44:
  • 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
rs942163 -- 100,057,720(+) TACTG(C/T)CTTGA intron-variant
rs1342146 -- 100,082,698(-) GATCT(A/G)AAATA intron-variant
rs1342147 -- 100,082,560(-) TGTAG(G/T)TACCC intron-variant
rs7848856 -- 100,091,597(+) TGTTA(C/T)TGAGA intron-variant
rs7849323 -- 100,091,906(+) ATCTA(C/T)AACCC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv831668 CNV Gain+Loss 17160897
nsv893623 CNV Gain 21882294
esv2738831 CNV Deletion 23290073
esv2738832 CNV Deletion 23290073
esv2738833 CNV Deletion 23290073
esv2738834 CNV Deletion 23290073
esv268563 CNV Insertion 20981092
esv2576011 CNV Deletion 19546169
esv270328 CNV Insertion 20981092
esv272924 CNV Insertion 20981092

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

HapMap Linkage Disequilibrium report
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 23 67
  2. 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 23
  3. Dynamic retention of Ero1alpha and Ero1beta in the endoplasmic reticulum by interactions with PDI and ERp44. (PMID: 16677073) Otsu M. … Sitia R. (Antioxid. Redox Signal. 2006) 3 23
  4. 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 23
  5. Interaction of amyotrophic lateral sclerosis/frontotemporal lobar degeneration-associated fused-in-sarcoma with proteins involved in metabolic and protein degradation pathways. (PMID: 25192599) Wang T. … Xu J. (Neurobiol. Aging 2015) 3

Products for ERP44 Gene

Sources for ERP44 Gene

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