• Gene id: 50613

Gene Summary

• Gene Symbol: UBQLN3   Gene   UCSC   Ensembl
• Aliases: TUP-1
• Gene name: ubiquilin 3
• Alternate names: ubiquilin-3, testicular tissue protein Li 220,
• Gene location: 11p15.4 (5509956: 5507299)     Exons: 10     NC_000011.10
• Gene summary(Entrez): This gene encodes a ubiquitin-like protein (ubiquilin) that shares a high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain an N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physical
• OMIM: 605473

Protein Summary

• Protein general information: Q9H347  
  • Name: Ubiquilin 3
  • Length: 655  
  • Mass: 70841
  • Tissue specificity: Testis specific. {ECO
• Sequence:

  MAKGGEALPQGSPAPVQDPHLIKVTVKTPKDKEDFSVTDTCTIQQLKEEISQRFKAHPDQLVLIFAGKILKDPDS
  LAQCGVRDGLTVHLVIKRQHRAMGNECPAASVPTQGPSPGSLPQPSSIYPADGPPAFSLGLLTGLSRLGLAYRGF
  PDQPSSLMRQHVSVPEFVTQLIDDPFIPGLLSNTGLVRQLVLDNPHMQQLIQHNPEIGHILNNPEIMRQTLEFLR
  NPAMMQEMIRSQDRVLSNLESIPGGYNVLCTMYTDIMDPMLNAVQEQFGGNPFATATTDNATTTTSQPSRMENCD
  PLPNPWTSTHGGSGSRQGRQDGDQDAPDIRNRFPNFLGIIRLYDYLQQLHENPQSLGTYLQGTASALSQSQEPPP
  SVNRVPPSSPSSQEPGSGQPLPEESVAIKGRSSCPAFLRYPTENSTGQGGDQDGAGKSSTGHSTNLPDLVSGLGD
  SANRVPFAPLSFSPTAAIPGIPEPPWLPSPAYPRSLRPDGMNPAPQLQDEIQPQLPLLMHLQAAMANPRALQALR
  QIEQGLQVLATEAPRLLLWFMPCLAGTGSVAGGIESREDPLMSEDPLPNPPPEVFPALDSAELGFLSPPFLHMLQ
  DLVSTNPQQLQPEAHFQVQLEQLRSMGFLNREANLQALIATGGDVDAAVEKLRQS

• Structural information:
  • Protein Domains: (22..9-)
    (/note="Ubiquitin-like-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00214-)
    (194..23-)
    (/note="STI1-)
    (/evidence="ECO:0000255-)
    (609..65-)
    (/note="UBA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00212"-)
  • Interpro: IPR006636  IPR015940  IPR009060  IPR015496  IPR000626   IPR029071  
  • Prosite: PS50030 PS50053
  • PDB: 1WX7 1YQB 2DAH
  • PDBsum: 1WX7 1YQB 2DAH
  • STRING: ENSP00000347997
• Other Databases: GeneCards:  UBQLN3  Malacards:  UBQLN3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031593	polyubiquitin modification-dependent protein binding	IBA	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0005829	cytosol	IBA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)