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ERP44 endoplasmic reticulum protein 44 [ Homo sapiens (human) ]

Gene ID: 23071, updated on 8-Jul-2021

Summary

Official Symbol
ERP44provided by HGNC
Official Full Name
endoplasmic reticulum protein 44provided by HGNC
Primary source
HGNC:HGNC:18311
See related
Ensembl:ENSG00000023318 MIM:609170
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PDIA10; TXNDC4
Summary
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]
Expression
Ubiquitous expression in thyroid (RPKM 19.6), placenta (RPKM 16.9) and 25 other tissues See more
Orthologs
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Genomic context

See ERP44 in Genome Data Viewer
Location:
9q31.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (99979185..100099000, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (102741467..102861282, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene STX17 divergent transcript Neighboring gene syntaxin 17 Neighboring gene uncharacterized LOC105376176 Neighboring gene UPF3A pseudogene 3 Neighboring gene RNA, 7SL, cytoplasmic 75, pseudogene Neighboring gene inversin Neighboring gene ribosomal protein S2 pseudogene 35

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 is identified to have a physical interaction with endoplasmic reticulum protein 44 (ERP44) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0573

General protein information

Preferred Names
endoplasmic reticulum resident protein 44
Names
ER protein 44
endoplasmic reticulum resident protein 44 kDa
epididymis secretory sperm binding protein
protein disulfide isomerase family A, member 10
thioredoxin domain containing 4 (endoplasmic reticulum)
thioredoxin domain-containing protein 4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_015051.3NP_055866.1  endoplasmic reticulum resident protein 44 precursor

    See identical proteins and their annotated locations for NP_055866.1

    Status: VALIDATED

    Source sequence(s)
    AB011145, AL358937, BQ881761
    Consensus CDS
    CCDS35082.1
    UniProtKB/Swiss-Prot
    Q9BS26
    Related
    ENSP00000262455.6, ENST00000262455.7
    Conserved Domains (3) summary
    cd02996
    Location:29136
    PDI_a_ERp44; PDIa family, endoplasmic reticulum protein 44 (ERp44) subfamily; ERp44 is an ER-resident protein, induced during stress, involved in thiol-mediated ER retention. It contains an N-terminal TRX domain, similar to that of PDIa, with a CXFS motif followed by ...
    cd03070
    Location:144234
    PDI_b_ERp44; PDIb family, ERp44 subfamily, first redox inactive TRX-like domain b; ERp44 is an endoplasmic reticulum (ER)-resident protein, induced during stress, involved in thiol-mediated ER retention. It contains an N-terminal TRX domain with a CXFS motif followed ...
    cd03072
    Location:245355
    PDI_b'_ERp44; PDIb' family, ERp44 subfamily, second redox inactive TRX-like domain b'; ERp44 is an endoplasmic reticulum (ER)-resident protein, induced during stress, involved in thiol-mediated ER retention. It contains an N-terminal TRX domain with a CXFS motif ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    99979185..100099000 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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