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PXDN peroxidasin [ Homo sapiens (human) ]

Gene ID: 7837, updated on 2-Mar-2021

Summary

Official Symbol
PXDNprovided by HGNC
Official Full Name
peroxidasinprovided by HGNC
Primary source
HGNC:HGNC:14966
See related
Ensembl:ENSG00000130508 MIM:605158
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PXN; VPO; MG50; PRG2; ASGD7; COPOA; D2S448; D2S448E
Summary
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]
Expression
Broad expression in fat (RPKM 35.5), endometrium (RPKM 27.3) and 21 other tissues See more
Orthologs
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Genomic context

See PXDN in Genome Data Viewer
Location:
2p25.3
Exon count:
24
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (1631887..1744852, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (1635659..1748287, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene thyroid peroxidase Neighboring gene uncharacterized LOC102723730 Neighboring gene uncharacterized LOC107985838 Neighboring gene myelin transcription factor 1 like Neighboring gene MYT1L antisense RNA 1

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0230

Gene Ontology Provided by GOA

Function Evidence Code Pubs
bromide peroxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
extracellular matrix structural constituent IDA
Inferred from Direct Assay
more info
PubMed 
extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
heme binding IDA
Inferred from Direct Assay
more info
PubMed 
interleukin-1 receptor antagonist activity NAS
Non-traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
peroxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
basement membrane assembly ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cellular oxidant detoxification IEA
Inferred from Electronic Annotation
more info
 
collagen fibril organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
extracellular matrix organization IDA
Inferred from Direct Assay
more info
PubMed 
hydrogen peroxide catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
immune response NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of cytokine-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
response to oxidative stress IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
collagen-containing extracellular matrix HDA PubMed 
collagen-containing extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
peroxidasin homolog
Names
melanoma-associated antigen MG50
p53-responsive gene 2 protein
vascular peroxidase 1
NP_036425.1
XP_005264764.1
XP_011508698.1

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.

Genomic

  1. NG_034221.1 RefSeqGene

    Range
    5033..117661
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_012293.3NP_036425.1  peroxidasin homolog precursor

    See identical proteins and their annotated locations for NP_036425.1

    Status: REVIEWED

    Source sequence(s)
    AK098167, BC030834, BC070119, BG706125, BX348948, DA551404, DA866300, EF090903
    Consensus CDS
    CCDS46221.1
    UniProtKB/Swiss-Prot
    Q92626
    Related
    ENSP00000252804.4, ENST00000252804.9
    Conserved Domains (12) summary
    cd05745
    Location:446519
    Ig3_Peroxidasin; Third immunoglobulin (Ig)-like domain of peroxidasin
    cd05746
    Location:542610
    Ig4_Peroxidasin; Fourth immunoglobulin (Ig)-like domain of peroxidasin
    cd09826
    Location:8641303
    peroxidasin_like; Animal heme peroxidase domain of peroxidasin and related proteins
    smart00214
    Location:14151470
    VWC; von Willebrand factor (vWF) type C domain
    pfam07679
    Location:433519
    I-set; Immunoglobulin I-set domain
    sd00031
    Location:112135
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:6687
    LRR_RI; leucine-rich repeat [structural motif]
    pfam03098
    Location:7411282
    An_peroxidase; Animal haem peroxidase
    pfam12799
    Location:110151
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:111170
    LRR_8; Leucine rich repeat
    cl11960
    Location:246333
    Ig; Immunoglobulin domain
    cl15307
    Location:192243
    TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    1631887..1744852 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510396.1XP_011508698.1  peroxidasin homolog isoform X2

    See identical proteins and their annotated locations for XP_011508698.1

    Conserved Domains (8) summary
    cd05745
    Location:263336
    Ig3_Peroxidasin; Third immunoglobulin (Ig)-like domain of peroxidasin
    cd05746
    Location:359427
    Ig4_Peroxidasin; Fourth immunoglobulin (Ig)-like domain of peroxidasin
    cd09826
    Location:6811120
    peroxidasin_like; Animal heme peroxidase domain of peroxidasin and related proteins
    smart00214
    Location:12321287
    VWC; von Willebrand factor (vWF) type C domain
    pfam07679
    Location:250336
    I-set; Immunoglobulin I-set domain
    pfam03098
    Location:5581099
    An_peroxidase; Animal haem peroxidase
    cl11960
    Location:63150
    Ig; Immunoglobulin domain
    cl15307
    Location:960
    TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain
  2. XM_005264707.3XP_005264764.1  peroxidasin homolog isoform X1

    Conserved Domains (11) summary
    cd05745
    Location:422495
    Ig3_Peroxidasin; Third immunoglobulin (Ig)-like domain of peroxidasin
    cd05746
    Location:518586
    Ig4_Peroxidasin; Fourth immunoglobulin (Ig)-like domain of peroxidasin
    cd09826
    Location:8401279
    peroxidasin_like; Animal heme peroxidase domain of peroxidasin and related proteins
    smart00214
    Location:13911446
    VWC; von Willebrand factor (vWF) type C domain
    pfam07679
    Location:409495
    I-set; Immunoglobulin I-set domain
    sd00031
    Location:6478
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:4563
    LRR_RI; leucine-rich repeat [structural motif]
    pfam03098
    Location:7171258
    An_peroxidase; Animal haem peroxidase
    pfam12799
    Location:110151
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:111168
    LRR_8; Leucine rich repeat
    cl11960
    Location:222309
    Ig; Immunoglobulin domain
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