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AUP1 AUP1 lipid droplet regulating VLDL assembly factor [ Homo sapiens (human) ]

Gene ID: 550, updated on 7-Jun-2020

Summary

Official Symbol
AUP1provided by HGNC
Official Full Name
AUP1 lipid droplet regulating VLDL assembly factorprovided by HGNC
Primary source
HGNC:HGNC:891
See related
Ensembl:ENSG00000115307 MIM:602434
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
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]
Expression
Ubiquitous expression in bone marrow (RPKM 42.2), duodenum (RPKM 40.5) and 25 other tissues See more
Orthologs

Genomic context

See AUP1 in Genome Data Viewer
Location:
2p13.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (74526652..74529706, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (74753775..74757019, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene T cell leukemia homeobox 2 Neighboring gene DEAQ-box RNA dependent ATPase 1 Neighboring gene HtrA serine peptidase 2 Neighboring gene lysyl oxidase like 3 Neighboring gene docking protein 1 Neighboring gene meiosis 1 associated protein Neighboring gene TOR1B pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-protein transferase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
retrograde protein transport, ER to cytosol IMP
Inferred from Mutant Phenotype
more info
PubMed 
ubiquitin-dependent ERAD pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Hrd1p ubiquitin ligase ERAD-L complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular exosome HDA PubMed 
integral component of endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane HDA PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
ancient ubiquitous protein 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033037.1 RefSeqGene

    Range
    5142..8196
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_181575.5NP_853553.1  ancient ubiquitous protein 1

    See identical proteins and their annotated locations for NP_853553.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the shortest transcript and encodes the functional protein.
    Source sequence(s)
    AF165515, AI580873, HY078082
    Consensus CDS
    CCDS42702.1
    UniProtKB/Swiss-Prot
    Q9Y679
    Related
    ENSP00000366748.3, ENST00000377526.4
    Conserved Domains (2) summary
    cd14420
    Location:296340
    CUE_AUP1; CUE domain found in ancient ubiquitous protein 1 (AUP1) and similar proteins
    cl17185
    Location:66264
    LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis

RNA

  1. NR_126510.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site at an internal exon, compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI580873, BC001658
    Related
    ENST00000425118.5
  2. NR_126511.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) contains an alternate internal segment, compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF165515, AI580873, CX164419, HY078082
    Related
    ENST00000463900.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    74526652..74529706 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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