• Gene id: 56893

Gene Summary

• Gene Symbol: UBQLN4   Gene   UCSC   Ensembl
• Aliases: A1U, A1Up, C1orf6, CIP75, UBIN
• Gene name: ubiquilin 4
• Alternate names: ubiquilin-4, ataxin-1 interacting ubiquitin-like protein, ataxin-1 ubiquitin-like interacting protein, ataxin-1 ubiquitin-like-interacting protein A1U, connexin43-interacting protein of 75 kDa,
• Gene location: 1q22 (156053797: 156033128)     Exons: 13     NC_000001.11
• OMIM: 600781

Protein Summary

• Protein general information: Q9NRR5  
  • Name: Ubiquilin 4 (Ataxin 1 interacting ubiquitin like protein) (A1Up) (Ataxin 1 ubiquitin like interacting protein A1U) (Connexin43 interacting protein of 75 kDa) (CIP75)
  • Length: 601  
  • Mass: 63853
  • Tissue specificity: Highly expressed in pancreas, kidney, skeletal muscle, heart and throughout the brain, and at lower levels in placenta, lung and liver. {ECO
• Sequence:

  MAEPSGAETRPPIRVTVKTPKDKEEIVICDRASVKEFKEEISRRFKAQQDQLVLIFAGKILKDGDTLNQHGIKDG
  LTVHLVIKTPQKAQDPAAATASSPSTPDPASAPSTTPASPATPAQPSTSGSASSDAGSGSRRSSGGGPSPGAGEG
  SPSATASILSGFGGILGLGSLGLGSANFMELQQQMQRQLMSNPEMLSQIMENPLVQDMMSNPDLMRHMIMANPQM
  QQLMERNPEISHMLNNPELMRQTMELARNPAMMQEMMRNQDRALSNLESIPGGYNALRRMYTDIQEPMFSAAREQ
  FGNNPFSSLAGNSDSSSSQPLRTENREPLPNPWSPSPPTSQAPGSGGEGTGGSGTSQVHPTVSNPFGINAASLGS
  GMFNSPEMQALLQQISENPQLMQNVISAPYMRSMMQTLAQNPDFAAQMMVNVPLFAGNPQLQEQLRLQLPVFLQQ
  MQNPESLSILTNPRAMQALLQIQQGLQTLQTEAPGLVPSLGSFGISRTPAPSAGSNAGSTPEAPTSSPATPATSS
  PTGASSAQQQLMQQMIQLLAGSGNSQVQTPEVRFQQQLEQLNSMGFINREANLQALIATGGDINAAIERLLGSQL
  S

• Structural information:
  • Protein Domains: (13..8-)
    (/note="Ubiquitin-like-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00214-)
    (192..22-)
    (/note="STI1-1)
    (/evidence="ECO:0000255-)
    (230..26-)
    (/note="STI1-2)
    (/evidence="ECO:0000255-)
    (393..44-)
    (/note="STI1-3)
    (/evidence-)
  • Interpro: IPR006636  IPR015940  IPR009060  IPR015496  IPR000626   IPR029071  
  • Prosite: PS50030 PS50053
  • STRING: ENSP00000357292
• Other Databases: GeneCards:  UBQLN4  Malacards:  UBQLN4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0006511	ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0031593	polyubiquitin modification-dependent protein binding	IBA	molecular function
GO:0031597	cytosolic proteasome complex	IBA	colocalizes with
GO:0031593	polyubiquitin modification-dependent protein binding	IDA	molecular function
GO:0090734	site of DNA damage	IDA	cellular component
GO:0031597	cytosolic proteasome complex	IDA	colocalizes with
GO:0031593	polyubiquitin modification-dependent protein binding	IDA	molecular function
GO:2000042	negative regulation of double-strand break repair via homologous recombination	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0032434	regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0005776	autophagosome	IDA	cellular component
GO:0031595	nuclear proteasome complex	IDA	colocalizes with
GO:1901097	negative regulation of autophagosome maturation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032434	regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0006914	autophagy	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005776	autophagosome	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0036435	K48-linked polyubiquitin modification-dependent protein binding	IDA	molecular function
GO:0005789	endoplasmic reticulum membrane	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	ISS	cellular component
GO:0031593	polyubiquitin modification-dependent protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq