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Aliases for AUP1 Gene

Aliases for AUP1 Gene

  • Ancient Ubiquitous Protein 1 2 3 5

External Ids for AUP1 Gene

Previous GeneCards Identifiers for AUP1 Gene

  • GC02M074891
  • GC02M074966
  • GC02M074711
  • GC02M074728
  • GC02M074665
  • GC02M074607
  • GC02M074753
  • GC02M074490

Summaries for AUP1 Gene

Entrez Gene Summary for AUP1 Gene

  • 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 cholesterol esters and trigylycerides to prevent the overabundance of free cholesterol and fatty acids in cells, but also to act as storage for other metabolic processes, such as membrane biogenesis. Reduced expression of this gene results in reduced lipid droplet clustering, a function that is dependent on ubiquitination of the protein. This protein contains multiple domains including a hydrophobic N-terminal domain, an acetyltranferase domain, a ubiquitin-binding CUE domain, and a UBE2B2-binding domain (G2BR). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

GeneCards Summary for AUP1 Gene

AUP1 (Ancient Ubiquitous Protein 1) is a Protein Coding gene.

UniProtKB/Swiss-Prot for AUP1 Gene

  • May play a role in the translocation of terminally misfolded proteins from the endoplasmic reticulum lumen to the cytoplasm and their degradation by the proteasome.

Gene Wiki entry for AUP1 Gene

Additional gene information for AUP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AUP1 Gene

Genomics for AUP1 Gene

Regulatory Elements for AUP1 Gene

Enhancers for AUP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H074196 1.2 ENCODE 23.5 +331.2 331192 3.9 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 INO80B PCGF1 ENSG00000273245 DUSP11 WBP1 ALMS1 DGUOK-AS1 AUP1 SEMA4F TTC31
GH02H074177 1.1 ENCODE 23.5 +351.4 351423 2.3 HDGF PKNOX1 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF207 SP3 SP5 DUSP11 BOLA3-AS1 ENSG00000273245 AUP1 TTC31 DGUOK-AS1 LOC107985899 INO80B MOGS PCGF1
GH02H074739 1.5 FANTOM5 Ensembl ENCODE 14.9 -211.1 -211078 3.6 PKNOX1 ATF1 MLX ARID4B SIN3A DMAP1 BRCA1 GTF3C2 FOS DEK ENSG00000273245 MOGS SEMA4F DUSP11 PCGF1 AUP1 TTC31 DGUOK-AS1 CCDC142 M1AP
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AUP1 on UCSC Golden Path with GeneCards custom track

Promoters for AUP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000119180 39 2201 HDGF MLX ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 ZNF207

Genomic Locations for AUP1 Gene

Genomic Locations for AUP1 Gene
3,295 bases
Minus strand

Genomic View for AUP1 Gene

Genes around AUP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AUP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AUP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AUP1 Gene

Proteins for AUP1 Gene

  • Protein details for AUP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ancient ubiquitous protein 1
    Protein Accession:
    Secondary Accessions:
    • C0H5W8
    • Q9H866
    • Q9UNQ6
    • Q9Y685

    Protein attributes for AUP1 Gene

    476 amino acids
    Molecular mass:
    53028 Da
    Quaternary structure:
    • Identified in a complex that contains SEL1L, OS9, FAF2/UBXD8, UBE2J1/UBC6E and AUP1. Interacts with the cytoplasmic tail of ITGA2B, ITGA1, ITGA2, ITGA5, ITGAV and ITGAM.
    • Sequence=AAH33646.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AUP1 Gene

    Alternative splice isoforms for AUP1 Gene


neXtProt entry for AUP1 Gene

Post-translational modifications for AUP1 Gene

  • Ubiquitination at Lys209, posLast=316316, Lys330, Lys335, and Lys443
  • Modification sites at PhosphoSitePlus

Other Protein References for AUP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AUP1 Gene

Domains & Families for AUP1 Gene

Gene Families for AUP1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for AUP1 Gene

Suggested Antigen Peptide Sequences for AUP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the AUP1 family.
  • Belongs to the AUP1 family.
genes like me logo Genes that share domains with AUP1: view

Function for AUP1 Gene

Molecular function for AUP1 Gene

GENATLAS Biochemistry:
ancient ubiquitous protein 1,43kDa,homolog to mouse Aup1 and C elegans hypothetical protein F44b9.5
UniProtKB/Swiss-Prot Function:
May play a role in the translocation of terminally misfolded proteins from the endoplasmic reticulum lumen to the cytoplasm and their degradation by the proteasome.

Gene Ontology (GO) - Molecular Function for AUP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23840749
GO:0043130 ubiquitin binding IBA --
GO:0097027 ubiquitin-protein transferase activator activity IBA --
genes like me logo Genes that share ontologies with AUP1: view
genes like me logo Genes that share phenotypes with AUP1: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AUP1 Gene

Localization for AUP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AUP1 Gene

Endoplasmic reticulum membrane; Single-pass type III membrane protein; Cytoplasmic side.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AUP1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
plasma membrane 3
nucleus 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AUP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000839 Hrd1p ubiquitin ligase ERAD-L complex IBA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with AUP1: view

Pathways & Interactions for AUP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AUP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process IBA --
GO:0030970 retrograde protein transport, ER to cytosol IMP 25660456
GO:0050790 regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with AUP1: view

No data available for Pathways by source and SIGNOR curated interactions for AUP1 Gene

Drugs & Compounds for AUP1 Gene

No Compound Related Data Available

Transcripts for AUP1 Gene

Unigene Clusters for AUP1 Gene

Ancient ubiquitous protein 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AUP1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a · 11b · 11c ^ 12
SP1: - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - - - -
SP5: - - - - - - - - - - -
SP6: - - -
SP7: - -
SP8: - - - - - - - - -
SP10: -
SP11: -

Relevant External Links for AUP1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AUP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AUP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AUP1 Gene

This gene is overexpressed in Breast (39.4) and Bone (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AUP1 Gene

Protein tissue co-expression partners for AUP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AUP1 Gene:


SOURCE GeneReport for Unigene cluster for AUP1 Gene:


mRNA Expression by UniProt/SwissProt for AUP1 Gene:

Tissue specificity: Detected in blood platelets and leukocytes (at protein level). Ubiquitous. Highly expressed in placenta, liver, kidney, skeletal muscle, heart and brain.

Evidence on tissue expression from TISSUES for AUP1 Gene

  • Nervous system(4.8)
  • Skin(4.6)
  • Blood(4.4)
  • Eye(4.4)
  • Lung(2.8)
  • Intestine(2.6)
  • Liver(2.1)
  • Muscle(2)
genes like me logo Genes that share expression patterns with AUP1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for AUP1 Gene

Orthologs for AUP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for AUP1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia AUP1 33 34
  • 99.76 (n)
(Canis familiaris)
Mammalia AUP1 33 34
  • 92.72 (n)
(Bos Taurus)
Mammalia AUP1 33 34
  • 91.22 (n)
(Rattus norvegicus)
Mammalia Aup1 33
  • 90.41 (n)
(Mus musculus)
Mammalia Aup1 33 16 34
  • 89.67 (n)
(Gallus gallus)
Aves AUP1 33 34
  • 64.73 (n)
(Anolis carolinensis)
Reptilia AUP1 34
  • 45 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aup1 33
  • 59.96 (n)
(Danio rerio)
Actinopterygii aup1 33 34
  • 58.44 (n)
wufc37d06 33
(Caenorhabditis elegans)
Secernentea F44B9.5 33 34
  • 41.64 (n)
Species where no ortholog for AUP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AUP1 Gene

Gene Tree for AUP1 (if available)
Gene Tree for AUP1 (if available)

Paralogs for AUP1 Gene

(1) SIMAP similar genes for AUP1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with AUP1: view

No data available for Paralogs for AUP1 Gene

Variants for AUP1 Gene

Sequence variations from dbSNP and Humsavar for AUP1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1057519081 Pathogenic 74,531,106(+) TTGAT(C/G)TGCGT intron-variant, upstream-variant-2KB, splice-donor-variant
rs1183739 Likely benign 74,529,421(-) CGCCT(C/G)TTTCT nc-transcript-variant, reference, synonymous-codon, missense, utr-variant-5-prime
rs150047108 Likely benign 74,530,221(+) ATGCC(C/T)GACGT intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense
rs2231248 Likely benign 74,530,486(-) ACCAC(C/G)GCAGG nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon
rs376231592 Likely benign 74,529,460(+) GCGTA(C/G)AGCAG nc-transcript-variant, reference, synonymous-codon, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for AUP1 Gene

Variant ID Type Subtype PubMed ID
esv2759061 CNV loss 17122850
nsv458185 CNV loss 19166990
nsv515851 CNV loss 19592680
nsv582214 CNV loss 21841781

Variation tolerance for AUP1 Gene

Residual Variation Intolerance Score: 35.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.09; 50.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AUP1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AUP1 Gene

Disorders for AUP1 Gene

Relevant External Links for AUP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for AUP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AUP1 Gene

Publications for AUP1 Gene

  1. Ancient ubiquitous protein 1 binds to the conserved membrane-proximal sequence of the cytoplasmic tail of the integrin alpha subunits that plays a crucial role in the inside-out signaling of alpha IIbbeta 3. (PMID: 12042322) Kato A … Oshimi K (The Journal of biological chemistry 2002) 2 3 4 22 60
  2. SEL1L nucleates a protein complex required for dislocation of misfolded glycoproteins. (PMID: 18711132) Mueller B … Ploegh HL (Proceedings of the National Academy of Sciences of the United States of America 2008) 3 4 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 3 4 60

Products for AUP1 Gene

Sources for AUP1 Gene

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