1. Gene
  2. PDIA4 - protein disulfide isomerase family A member 4 Gene

PDIA4 - protein disulfide isomerase family A member 4 Gene

Homo sapiens

Also known as ERP70; ERP72; ERp-72

Gene ID: 9601 | Gene type: protein coding

About PDIA4

Cytogenetic location: 7q36.1 Genomic coordinates (GRCh38): 7:149,003,051-149,028,505 (from NCBI)

This gene has 4 transcripts (splice variants), 212 orthologues and 13 paralogues. Broad expression in thyroid (RPKM 166.5), liver (RPKM 67.6) and 24 other tissues.

Summary

This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, three catalytically active thioredoxin (TRX) domains, two TRX-like domains and a C-terminal ER-retention sequence. This protein, when bound to cyclophilin B, enhances the rate of immunoglobulin G intermolecular disulfide bonding and antibody assembly. [provided by RefSeq, Dec 2016]

PDIA4 Products(3)

mRNA Protein Name
NM_001371244.1 NP_001358173.1 protein disulfide-isomerase A4 isoform 1 precursor
NM_001371245.1 NP_001358174.1 protein disulfide-isomerase A4 isoform 3 precursor
NM_004911.5 NP_004902.1 protein disulfide-isomerase A4 isofrom 2 precursor

PDIA4 Protein Structure

Thioredoxin

Thioredoxin: Thioredoxin (64 - 165)

Thioredoxin

Thioredoxin: Thioredoxin (179 - 280)

Thioredoxin_6

Thioredoxin_6: Thioredoxin-like domain (312 - 503)

Thioredoxin

Thioredoxin: Thioredoxin (527 - 634)

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  • 645 a.a.
Protein Preferred Names Protein Names

protein disulfide-isomerase A4

ER protein 70

Recombinant PDIA4 Proteins

Cat. No. Product Name Accession Purity
HY-P71113 PDIA4 Protein, Human (HEK293, His) P13667 (V21-L645) ≥95%

Related Diseases

Diseases Alias
Multiple Epiphyseal Dysplasia

Med

Polyepiphyseal Dysplasia

Edm

Epiphyseal Dysplasia, Multiple, 1

Epiphyseal Dysplasia, Multiple, 2

Epiphyseal Dysplasia, Multiple, 3

Epiphyseal Dysplasia, Multiple, 4

Epiphyseal Dysplasia, Multiple, 5

Epiphyseal Dysplasia, Multiple

Edm1

Edm2

Edm3

Edm4

Edm5

Epiphyseal Dysplasia, Fairbank Type

Epiphyseal Dysplasia, Ribbing Type

Multiple Epiphyseal Dysplasia, Autosomal Dominant

Multiple Epiphyseal Dysplasia, Autosomal Recessive

Rmed

Dysplasia, Epiphyseal, Multiple

Osteochondrodysplasias

Congenital Hypothyroidism

Cretinism

Neonatal Hypothyroidism

Ch

Cht

Congenital Myxedema

Myxedema, Congenital

Endemic Cretinism

Congenital Iodine-Deficiency Syndrome

Fetal Iodine Deficiency Syndrome

Congenital Iodine-Deficiency Hypothyroidism Nos

Ovarian Dysgenesis 2

Premature Ovarian Failure 4

ODG2

Ovarian Dysgenesis, Hypergonadotropic, X-Linked

Ovarian Failure, Hypergonadotropic, Due To Ovarian Dysgenesis

Ovarian Failure Hypergonadotropic Due To Ovarian Dysgenesis

X-Linked Hypergonadotropic Ovarian Dysgenesis

POF4

Dysgenesis, Ovarian, Type 2

Epiphyseal Dysplasia, Multiple, 5

EDM5

Multiple Epiphyseal Dysplasia 5

Bhmed

Multiple Epiphyseal Dysplasia Type 5

Multiple Epiphyseal Dysplasia, Matn3-Related

Microepiphyseal Dysplasia, Bilateral Hereditary

Bilateral Hereditary Microepiphyseal Dysplasia

Multiple Epiphyseal Dysplasia Matn3-Related

Epiphyseal Dysplasia Multiple 5

Multiple Epiphyseal Dysplasia, Matn3 Related

Bilateral Hereditary Micro-Epiphyseal Dysplasia

Med5

Polyepiphyseal Dysplasia Type 5

Dysplasia, Epiphyseal, Multiple, Type 5

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus PDIA4 VGNC VGNC:64084
Mus musculus PDIA4 MGD MGI:104864
Macaca mulatta PDIA4 VGNC VGNC:84750
Canis familiaris PDIA4 VGNC VGNC:44377
Bos taurus PDIA4 VGNC VGNC:32698
Rattus norvegicus PDIA4 RGD RGD:619835
Others PDIA4 NCBI