• Gene id: 23024

Gene Summary

• Gene Symbol: PDZRN3   Gene   UCSC   Ensembl
• Aliases: LNX3, SEMACAP3, SEMCAP3
• Gene name: PDZ domain containing ring finger 3
• Alternate names: E3 ubiquitin-protein ligase PDZRN3, RING-type E3 ubiquitin transferase PDZRN3, ligand of Numb protein X 3, likely ortholog of mouse semaF cytoplasmic domain associated protein 3, semaphorin cytoplasmic domain-associated protein 3,
• Gene location: 3p13 (73624996: 73382429)     Exons: 14     NC_000003.12
• Gene summary(Entrez): This gene encodes a member of the LNX (Ligand of Numb Protein-X) family of RING-type ubiquitin E3 ligases. This protein may function in vascular morphogenesis and the differentiation of adipocytes, osteoblasts and myoblasts. This protein may be targeted f
• OMIM: 607911

Protein Summary

• Protein general information: Q9UPQ7  
  • Name: E3 ubiquitin protein ligase PDZRN3 (EC 2.3.2.27) (Ligand of Numb protein X 3) (PDZ domain containing RING finger protein 3) (RING type E3 ubiquitin transferase PDZRN3) (Semaphorin cytoplasmic domain associated protein 3) (Protein SEMACAP3)
  • Length: 1066  
  • Mass: 119596
  • Tissue specificity: Widely expressed, including in the heart, skeletal muscle and liver and, at lower levels, in the brain, colon, small intestine, placenta and lung. Down-regulated in ovarian serous papillary tumors. {ECO
• Sequence:

  MGFELDRFDGDVDPDLKCALCHKVLEDPLTTPCGHVFCAGCVLPWVVQEGSCPARCRGRLSAKELNHVLPLKRLI
  LKLDIKCAYATRGCGRVVKLQQLPEHLERCDFAPARCRHAGCGQVLLRRDVEAHMRDACDARPVGRCQEGCGLPL
  THGEQRAGGHCCARALRAHNGALQARLGALHKALKKEALRAGKREKSLVAQLAAAQLELQMTALRYQKKFTEYSA
  RLDSLSRCVAAPPGGKGEETKSLTLVLHRDSGSLGFNIIGGRPSVDNHDGSSSEGIFVSKIVDSGPAAKEGGLQI
  HDRIIEVNGRDLSRATHDQAVEAFKTAKEPIVVQVLRRTPRTKMFTPPSESQLVDTGTQTDITFEHIMALTKMSS
  PSPPVLDPYLLPEEHPSAHEYYDPNDYIGDIHQEMDREELELEEVDLYRMNSQDKLGLTVCYRTDDEDDIGIYIS
  EIDPNSIAAKDGRIREGDRIIQINGIEVQNREEAVALLTSEENKNFSLLIARPELQLDEGWMDDDRNDFLDDLHM
  DMLEEQHHQAMQFTASVLQQKKHDEDGGTTDTATILSNQHEKDSGVGRTDESTRNDESSEQENNGDDATASSNPL
  AGQRKLTCSQDTLGSGDLPFSNESFISADCTDADYLGIPVDECERFRELLELKCQVKSATPYGLYYPSGPLDAGK
  SDPESVDKELELLNEELRSIELECLSIVRAHKMQQLKEQYRESWMLHNSGFRNYNTSIDVRRHELSDITELPEKS
  DKDSSSAYNTGESCRSTPLTLEISPDNSLRRAAEGISCPSSEGAVGTTEAYGPASKNLLSITEDPEVGTPTYSPS
  LKELDPNQPLESKERRASDGSRSPTPSQKLGSAYLPSYHHSPYKHAHIPAHAQHYQSYMQLIQQKSAVEYAQSQM
  SLVSMCKDLSSPTPSEPRMEWKVKIRSDGTRYITKRPVRDRLLRERALKIREERSGMTTDDDAVSEMKMGRYWSK
  EERKQHLVKAKEQRRRREFMMQSRLDCLKEQQAADDRKEMNILELSHKKMMKKRNKKIFDNWMTIQELLTHGTKS
  PDGTRVYNSFLSVTTV

• Structural information:
  • Protein Domains: (249..33-)
    (/note="PDZ-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (419..50-)
    (/note="PDZ-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143"-)
  • Interpro: IPR001478  IPR036034  IPR008974  IPR001841  IPR013083   IPR017907  IPR001293  
  • Prosite: PS50106 PS00518 PS50089 PS50145
  • PDB: 1UHP 1WH1
  • PDBsum: 1UHP 1WH1
  • STRING: ENSP00000263666
• Other Databases: GeneCards:  PDZRN3  Malacards:  PDZRN3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007528	neuromuscular junction development	IBA	biological process
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0016567	protein ubiquitination	IBA	biological process
GO:0031594	neuromuscular junction	IBA	cellular component
GO:0004842	ubiquitin-protein transferase activity	ISS	molecular function
GO:0016567	protein ubiquitination	ISS	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0007528	neuromuscular junction development	IEA	biological process
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0031594	neuromuscular junction	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881