• Gene id: 550

Gene Summary

• Gene Symbol: AUP1   Gene   UCSC   Ensembl
• Gene name: AUP1 lipid droplet regulating VLDL assembly factor
• Alternate names: ancient ubiquitous protein 1,
• Gene location: 2p13.1 (74529705: 74526651)     Exons: 12     NC_000002.12
• Gene summary(Entrez): The protein encoded this gene is involved in several pathways including quality control of misfolded proteins in the endoplasmic reticulum and lipid droplet accumulation. Lipid droplets are organelles in the cytoplasm that store neutral lipids such as cho
• OMIM: 604520

SNPs

rs397515393

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000017.11   g.80039966del
NC_000017.10   g.78013765del
NG_029761.1   g.8335del
NM_017950.4   c.248del
NM_017950.3   c.248del
NM_001330508.2   c.248del
NM_001330508.1   c.248del
NM_001243342.1   c.248del
XM_011524963.3   c.158del
XM_011524965.3   c.248del
XR_934495.2  

Protein Summary

• Protein general information: Q9Y679  
  • Name: Ancient ubiquitous protein 1
  • Length: 410  
  • Mass: 45787
  • Tissue specificity: Detected in blood platelets and leukocytes (at protein level). Ubiquitous. Highly expressed in placenta, liver, kidney, skeletal muscle, heart and brain. {ECO
• Sequence:

  MELPSGPGPERLFDSHRLPGDCFLLLVLLLYAPVGFCLLVLRLFLGIHVFLVSCALPDSVLRRFVVRTMCAVLGL
  VARQEDSGLRDHSVRVLISNHVTPFDHNIVNLLTTCSTPLLNSPPSFVCWSRGFMEMNGRGELVESLKRFCASTR
  LPPTPLLLFPEEEATNGREGLLRFSSWPFSIQDVVQPLTLQVQRPLVSVTVSDASWVSELLWSLFVPFTVYQVRW
  LRPVHRQLGEANEEFALRVQQLVAKELGQTGTRLTPADKAEHMKRQRHPRLRPQSAQSSFPPSPGPSPDVQLATL
  AQRVKEVLPHVPLGVIQRDLAKTGCVDLTITNLLEGAVAFMPEDITKGTQSLPTASASKFPSSGPVTPQPTALTF
  AKSSWARQESLQERKQALYEYARRRFTERRAQEAD

• Structural information:
  • Protein Domains: (296..33-)
    (/note="CUE-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00468"-)
  • Interpro: IPR003892  
  • Prosite: PS51140
  • PDB: 2EKF
  • PDBsum: 2EKF
• Other Databases: GeneCards:  AUP1  Malacards:  AUP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030970	retrograde protein transport, ER to cytosol	IMP	biological process
GO:0097027	ubiquitin-protein transferase activator activity	IBA	molecular function
GO:0030176	integral component of endoplasmic reticulum membrane	IBA	cellular component
GO:0043130	ubiquitin binding	IBA	molecular function
GO:0030433	ubiquitin-dependent ERAD pathway	IBA	biological process
GO:0016020	membrane	IBA	cellular component
GO:0000839	Hrd1p ubiquitin ligase ERAD-L complex	IBA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0005811	lipid droplet	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:1990044	protein localization to lipid droplet	IDA	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0005811	lipid droplet	IDA	cellular component
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0005811	lipid droplet	IDA	cellular component
GO:0034389	lipid droplet organization	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0071712	ER-associated misfolded protein catabolic process	IMP	biological process
GO:0016020	membrane	HDA	cellular component
GO:0140042	lipid droplet formation	IMP	biological process
GO:0031624	ubiquitin conjugating enzyme binding	IPI	molecular function
GO:0031624	ubiquitin conjugating enzyme binding	IPI	molecular function

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