Description: Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA. RefSeq Summary (NM_012293): This gene encodes a heme-containing peroxidase that is secreted into the extracellular matrix. It is involved in extracellular matrix formation, and may function in the physiological and pathological fibrogenic response in fibrotic kidney. Mutations in this gene cause corneal opacification and other ocular anomalies, and also microphthalmia and anterior segment dysgenesis. [provided by RefSeq, Aug 2014]. Transcript (Including UTRs) Position: hg19 chr2:1,635,659-1,748,291 Size: 112,633 Total Exon Count: 23 Strand: - Coding Region Position: hg19 chr2:1,637,976-1,748,227 Size: 110,252 Coding Exon Count: 23
ID:PXDN_HUMAN DESCRIPTION: RecName: Full=Peroxidasin homolog; EC=1.11.1.7; AltName: Full=Melanoma-associated antigen MG50; AltName: Full=Vascular peroxidase 1; AltName: Full=p53-responsive gene 2 protein; Flags: Precursor; FUNCTION: Displays low peroxidase activity and is likely to participate in H(2)O(2) metabolism and peroxidative reactions in the cardiovascular system. Plays a role in extracellular matrix formation. CATALYTIC ACTIVITY: 2 phenolic donor + H(2)O(2) = 2 phenoxyl radical of the donor + 2 H(2)O. COFACTOR: Binds 1 calcium ion per subunit (By similarity). COFACTOR: Binds 1 heme B (iron-protoporphyrin IX) group covalently per subunit. BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=0.15 mM for H(2)O(2); SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix. Note=Enriched in the peritubular space of fibrotic kidneys. TISSUE SPECIFICITY: Expressed at higher levels in heart, lung, ovary, spleen, intestine and placenta, and at lower levels in liver, colon, pancreas, kidney, thymus, skeletal muscle and prostate. Expressed in tumors such as melanoma, breast cancer, ovarian cancer and glioblastoma. A shorter form probably lacking the signal sequence is found in testis and in EB1 cells undergoing p53/TP53-dependent apoptosis. DEVELOPMENTAL STAGE: Expressed in fetal liver and spleen. INDUCTION: By TGFB1 in fibroblasts and up-regulated in apoptotic cells. SIMILARITY: Belongs to the peroxidase family. XPO subfamily. SIMILARITY: Contains 4 Ig-like C2-type (immunoglobulin-like) domains. SIMILARITY: Contains 4 LRR (leucine-rich) repeats. SIMILARITY: Contains 1 LRRCT domain. SIMILARITY: Contains 1 LRRNT domain. SIMILARITY: Contains 1 VWFC domain. SEQUENCE CAUTION: Sequence=AAF06354.1; Type=Erroneous initiation; Sequence=BAA13219.1; Type=Erroneous initiation;
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): PXDN CDC HuGE Published Literature: PXDN Positive Disease Associations: Perphenazine Related Studies:
Perphenazine D E Adkins et al. Molecular psychiatry 2011, Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs., Molecular psychiatry.
[PubMed 20195266]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q92626
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BioCyc Knowledge Library PWY-6355 - phosphate acquisition II
Reactome (by CSHL, EBI, and GO)
Protein Q92626 (Reactome details) participates in the following event(s):
R-HSA-2559639 Collagen type IV sulfilimine cross-linking by peroxidasin R-HSA-2243919 Crosslinking of collagen fibrils R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures R-HSA-1474290 Collagen formation R-HSA-1474244 Extracellular matrix organization
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