PXDNL (peroxidasin like)

Gene

• Entrez ID: 137902
• Gene name: Peroxidasin like
• Gene symbol: PXDNL
• Synonyms (NCBI Gene): PMR1, PRM1, VPO2
• Chromosome: 8
• Chromosome location: 8q11.22-q11.23

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0004601	Function	Peroxidase activity	IBA
GO:0004601	Function	Peroxidase activity	IEA
GO:0004601	Function	Peroxidase activity	ISS
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006979	Process	Response to oxidative stress	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016684	Function	Oxidoreductase activity, acting on peroxide as acceptor	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0020037	Function	Heme binding	IEA
GO:0020037	Function	Heme binding	ISS
GO:0042744	Process	Hydrogen peroxide catabolic process	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048731	Process	System development	IEA
GO:0070831	Process	Basement membrane assembly	IEA
GO:0098869	Process	Cellular oxidant detoxification	IEA
GO:0140825	Function	Lactoperoxidase activity	IEA

Other IDs

• MIM: 615904
• HGNC: 26359
• e!Ensembl: ENSG00000147485

Protein

• UniProt ID: A1KZ92
• Protein name: Probable oxidoreductase PXDNL (EC 1.-.-.-) (Cardiac peroxidase) (Inactive peroxidasin-like protein) (Polysomal ribonuclease 1) (PRM1) (Vascular peroxidase 2)
• Protein function: Probable oxidoreductase (Probable). Lacks peroxidase activity (PubMed:24253521). Inhibits the peroxidase activity of PXDN through its interaction (PubMed:24253521). ; [Isoform
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13855	LRR_8	50 → 110	Leucine rich repeat	Repeat
  PF13855	LRR_8	122 → 182	Leucine rich repeat	Repeat
  PF07679	I-set	234 → 321	Immunoglobulin I-set domain	Domain
  PF13927	Ig_3	329 → 402		Domain
  PF07679	I-set	419 → 505	Immunoglobulin I-set domain	Domain
  PF07679	I-set	511 → 597	Immunoglobulin I-set domain	Domain
  PF03098	An_peroxidase	727 → 1272	Animal haem peroxidase	Domain
  PF00093	VWC	1395 → 1450	von Willebrand factor type C domain	Family

• Tissue specificity: TISSUE SPECIFICITY: The 57 kDa isoform PMR1 is the only form detected at protein levels in human cell lines (PubMed:22543864). Expressed in heart (PubMed:24253521). {ECO:0000269|PubMed:22543864, ECO:0000269|PubMed:24253521}.
• Sequence:

  MEPRLFCWTTLFLLAGWCLPGLPCPSRCLCFKSTVRCMHLMLDHIPQVPQQTTVLDLRFN
  RIREIPGSAFKKLKNLNTLLLNNNHIRKISRNAFEGLENLLYLYLYKNEIHALDKQTFKG
  LISLEHLYIHFNQLEMLQPETFGDLLRLERLFLHNNKLSKIPAGSFSNLDSLKRLRLDSN
  ALVCDCDLMWLGELLQGFAQHGHTQAAATCEYPRRLHGRAVASVTVEEFNCQSPRITFEP
  QDVEVPSGNTVYFTCRAEGNPKPEIIWIHNNHSLDLEDDTRLNVFDDGTLMIRNTRESDQ
  GVYQCMARNSAGEAKTQSAMLRYSSLPAKPSFVIQPQDTEVLIGTSTTLECMATGHPHPL
  ITWTRDNGLELDGSRHVATSSGLYLQNITQRDHGRFTCHANNSHGTVQAAANIIVQAPPQ
  FTVTPKDQVVLEEHAVEWLCEADGNPPPVIVWTKTGGQLPVEGQHTVLSSGTLRIDRAAQ
  HDQGQYECQAVSSLGVKKVSVQLTVKPKALAVFTQLPQDTSVEVGKNINISCHAQGEPQP
  IITWNKEGVQITESGKFHVDDEGTLTIYDAGFPDQGRYECVARNSFGLAVTNMFLTVTAI
  QGRQAGDDFVESSILDAVQRVDSAINSTRRHLFSQKPHTSSDLLAQFHYPRDPLIVEMAR
  AGEIFEHTLQLIRERVKQGLTVDLEGKEFRYNDLVSPRSLSLIANLSGCTARRPLPNCSN
  RCFHAKYRAHDGTCNNLQQPTWGAALTAFARLLQPAYRDGIRAPRGLGLPVGSRQPLPPP
  RLVATVWARAAAVTPDHSYTRMLMHWGWFLEHDLDHTVPALSTARFSDGRPCSSVCTNDP
  PCFPMNTRHADPRGTHAPCMLFARSSPACASGRPSATVDSVYAREQINQQTAYIDGSNVY
  GSSERESQALRDPSVPRGLLKTGFPWPPSGKPLLPFSTGPPTECARQEQESPCFLAGDHR
  ANEHLALAAMHTLWFREHNRMATELSALNPHWEGNTVYQEARKIVGAELQHITYSHWLPK
  VLGDPGTRMLRGYRGYNPNVNAGIINSFATAAFRFGHTLINPILYRLNATLGEISEGHLP
  FHKALFSPSRIIKEGGIDPVLRGLFGVAAKWRAPSYLLSPELTQRLFSAAYSAAVDSAAT
  IIQRGRDHGIPPYVDFRVFCNLTSVKNFEDLQNEIKDSEIRQKLRKLYGSPGDIDLWPAL
  MVEDLIPGTRVGPTLMCLFVTQFQRLRDGDRFWYENPGVFTPAQLTQLKQASLSRVLCDN
  GDSIQQVQADVFVKAEYPQDYLNCSEIPKVDLRVWQDCCADCRSRGQFRAVTQESQKKRS
  AQYSYPVDKDMELSHLRSRQQDKIYVGEDARNVTVLAKTKFSQDFSTFAAEIQETITALR
  EQINKLEARLRQAGCTDVRGVPRKAEERWMKEDCTHCICESGQVTCVVEICPPAPCPSPE
  LVKGTCCPVCRDRGMPSDSPEKR

• Sequence length: 1463

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS LEISHMANIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROPARESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PXDNL-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBERCULOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Breast Neoplasms	Inhibit	26474971	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	31689799, 36869083	★☆☆☆☆ Found in Text Mining only
Cluster Headache	Associate	40114078	★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	26474971	★☆☆☆☆ Found in Text Mining only