UBQLN3 (ubiquilin 3)

Gene

• Entrez ID: 50613
• Gene name: Ubiquilin 3
• Gene symbol: UBQLN3
• Synonyms (NCBI Gene): TUP-1
• Chromosome: 11
• Chromosome location: 11p15.4
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029449	hsa-miR-26b-5p	Microarray	19088304
MIRT1471020	hsa-miR-151-3p	CLIP-seq
MIRT1471021	hsa-miR-296-5p	CLIP-seq
MIRT1471022	hsa-miR-361-3p	CLIP-seq
MIRT1471023	hsa-miR-4463	CLIP-seq
MIRT1471024	hsa-miR-4499	CLIP-seq
MIRT1471020	hsa-miR-151-3p	CLIP-seq
MIRT1471021	hsa-miR-296-5p	CLIP-seq
MIRT1471022	hsa-miR-361-3p	CLIP-seq
MIRT1471023	hsa-miR-4463	CLIP-seq
MIRT1471024	hsa-miR-4499	CLIP-seq
MIRT1471020	hsa-miR-151-3p	CLIP-seq
MIRT1471021	hsa-miR-296-5p	CLIP-seq
MIRT1471022	hsa-miR-361-3p	CLIP-seq
MIRT1471023	hsa-miR-4463	CLIP-seq
MIRT1471024	hsa-miR-4499	CLIP-seq
MIRT1471020	hsa-miR-151-3p	CLIP-seq
MIRT1471021	hsa-miR-296-5p	CLIP-seq
MIRT1471022	hsa-miR-361-3p	CLIP-seq
MIRT1471023	hsa-miR-4463	CLIP-seq
MIRT1471024	hsa-miR-4499	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005829	Component	Cytosol	IBA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA
GO:0031593	Function	Polyubiquitin modification-dependent protein binding	IBA
GO:0033554	Process	Cellular response to stress	IEA
GO:0061136	Process	Regulation of proteasomal protein catabolic process	IEA

Other IDs

• MIM: 605473
• HGNC: 12510
• e!Ensembl: ENSG00000175520

Protein

• UniProt ID: Q9H347
• Protein name: Ubiquilin-3
• PDB: 1WX7, 1YQB, 2DAH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00240	ubiquitin	22 → 94	Ubiquitin family	Domain
  PF00627	UBA	617 → 652	UBA/TS-N domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Testis specific. {ECO:0000269|PubMed:10831842}.
• Sequence:

  MAKGGEALPQGSPAPVQDPHLIKVTVKTPKDKEDFSVTDTCTIQQLKEEISQRFKAHPDQ
  LVLIFAGKILKDPDSLAQCGVRDGLTVHLVIKRQHRAMGNECPAASVPTQGPSPGSLPQP
  SSIYPADGPPAFSLGLLTGLSRLGLAYRGFPDQPSSLMRQHVSVPEFVTQLIDDPFIPGL
  LSNTGLVRQLVLDNPHMQQLIQHNPEIGHILNNPEIMRQTLEFLRNPAMMQEMIRSQDRV
  LSNLESIPGGYNVLCTMYTDIMDPMLNAVQEQFGGNPFATATTDNATTTTSQPSRMENCD
  PLPNPWTSTHGGSGSRQGRQDGDQDAPDIRNRFPNFLGIIRLYDYLQQLHENPQSLGTYL
  QGTASALSQSQEPPPSVNRVPPSSPSSQEPGSGQPLPEESVAIKGRSSCPAFLRYPTENS
  TGQGGDQDGAGKSSTGHSTNLPDLVSGLGDSANRVPFAPLSFSPTAAIPGIPEPPWLPSP
  AYPRSLRPDGMNPAPQLQDEIQPQLPLLMHLQAAMANPRALQALRQIEQGLQVLATEAPR
  LLLWFMPCLAGTGSVAGGIESREDPLMSEDPLPNPPPEVFPALDSAELGFLSPPFLHMLQ
  DLVSTNPQQLQPEAHFQVQLEQLRSMGFLNREANLQALIATGGDVDAAVEKLRQS

• Sequence length: 655

Pathways

KEGG:

Protein processing in endoplasmic reticulum
Amyotrophic lateral sclerosis

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
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	24012201	Associate	★☆☆☆☆ Found in Text Mining only