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

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; AllianceGenome:HGNC:891
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: mouse all
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Genomic context

Location:: 2p13.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (74526652..74529706, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (74535217..74538272, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (74753779..74756833, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AUP1 Regulates the Endoplasmic Reticulum-Associated Degradation and Polyubiquitination of NKCC2.
Title: AUP1 Regulates the Endoplasmic Reticulum-Associated Degradation and Polyubiquitination of NKCC2.
AUP1 regulates lipid metabolism and induces lipid accumulation to accelerate the progression of renal clear cell carcinoma.
Title: AUP1 regulates lipid metabolism and induces lipid accumulation to accelerate the progression of renal clear cell carcinoma.
A structurally conserved site in AUP1 binds the E2 enzyme UBE2G2 and is essential for ER-associated degradation.
Title: A structurally conserved site in AUP1 binds the E2 enzyme UBE2G2 and is essential for ER-associated degradation.
AUP1 may be a crucial factor in hepatic apoB100 quality control, determining the rate at which apoB100 is degraded or lipidated to enable VLDL particle assembly and secretion.
Title: AUP1 (Ancient Ubiquitous Protein 1) Is a Key Determinant of Hepatic Very-Low-Density Lipoprotein Assembly and Secretion.
Monoubiquitinated AUP1 on the lipid droplet surface specifically induces clustering.
Title: Monoubiquitination of ancient ubiquitous protein 1 promotes lipid droplet clustering.
A novel role for Aup1 in maintenance of intracellular cholesterol homeostasis via mediation of the endoplasmic reticulum associated degradation of HMG-CoA reductase.
Title: Ancient ubiquitous protein-1 mediates sterol-induced ubiquitination of 3-hydroxy-3-methylglutaryl CoA reductase in lipid droplet-associated endoplasmic reticulum membranes.
AUP1 targeting signals
Title: Monotopic topology is required for lipid droplet targeting of ancient ubiquitous protein 1.
Dual role of ancient ubiquitous protein 1 (AUP1) in lipid droplet accumulation and endoplasmic reticulum (ER) protein quality control.
Title: Dual role of ancient ubiquitous protein 1 (AUP1) in lipid droplet accumulation and endoplasmic reticulum (ER) protein quality control.
The presence of the AUP1-Ube2g2 complex at LDs provides a direct molecular link between LDs and the cellular ubiquitination machinery.
Title: Ancient ubiquitous protein 1 (AUP1) localizes to lipid droplets and binds the E2 ubiquitin conjugase G2 (Ube2g2) via its G2 binding region.
molecular cloning and sequencing of cDNA and preliminary characterization of protein
Title: [A new human cellular protein AUP1. II. cDNA cloning, genomic organization of Aup1 gene ans preliminary characterization of human AUP1 protein].

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_5801-5802:991939731:1 (e-PCR)
- UniSTS:231172

MARC_5801-5802:997299306:1 (e-PCR)
- UniSTS:231172

D2S1537E (e-PCR)
- UniSTS:150623

WI-19737 (e-PCR)
- UniSTS:61045

D2S1577E (e-PCR)
- UniSTS:150661

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin binding	IEA Inferred from Electronic Annotation more info
enables ubiquitin conjugating enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ERAD pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in ERAD pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid droplet formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid droplet organization	IDA Inferred from Direct Assay more info	PubMed
involved_in lipophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to lipid droplet	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to lipid droplet	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to virus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retrograde protein transport, ER to cytosol	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in autophagosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in lipid droplet	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: lipid droplet-regulating VLDL assembly factor AUP1

Names: ancient ubiquitous protein 1

NCBI Reference Sequences (RefSeq)

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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

NG_033037.1 RefSeqGene

Range

5142..8196

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_181575.5 → NP_853553.1 lipid droplet-regulating VLDL assembly factor AUP1

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

C0H5W8, Q9H866, Q9UNQ6, Q9Y679, Q9Y685

UniProtKB/TrEMBL

A8KAQ6

Related

ENSP00000366748.3, ENST00000377526.4

Conserved Domains (2) summary

cd14420
Location:296 → 340

CUE_AUP1; CUE domain found in ancient ubiquitous protein 1 (AUP1) and similar proteins

cl17185
Location:66 → 264

LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis

RNA

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
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