LOCUS       NM_181575               1458 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens AUP1 lipid droplet regulating VLDL assembly factor
            (AUP1), transcript variant 2, mRNA.
ACCESSION   NM_181575
VERSION     NM_181575.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1458)
  AUTHORS   Zhu,Y., Yang,W., Wang,X. and Chen,M.
  TITLE     AUP1 transcriptionally activated by KDM5B reprograms lipid
            metabolism to promote the malignant progression of cervical cancer
  JOURNAL   Int J Oncol 65 (5) (2024)
   PUBMED   39329209
  REMARK    GeneRIF: AUP1 transcriptionally activated by KDM5B reprograms lipid
            metabolism to promote the malignant progression of cervical cancer.
REFERENCE   2  (bases 1 to 1458)
  AUTHORS   Frachon,N., Demaretz,S., Seaayfan,E., Chelbi,L., Bakhos-Douaihy,D.
            and Laghmani,K.
  TITLE     AUP1 Regulates the Endoplasmic Reticulum-Associated Degradation and
            Polyubiquitination of NKCC2
  JOURNAL   Cells 13 (5), 389 (2024)
   PUBMED   38474353
  REMARK    GeneRIF: AUP1 Regulates the Endoplasmic Reticulum-Associated
            Degradation and Polyubiquitination of NKCC2.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1458)
  AUTHORS   Chen,C., Zhao,W., Lu,X., Ma,Y., Zhang,P., Wang,Z., Cui,Z. and
            Xia,Q.
  TITLE     AUP1 regulates lipid metabolism and induces lipid accumulation to
            accelerate the progression of renal clear cell carcinoma
  JOURNAL   Cancer Sci 113 (8), 2600-2615 (2022)
   PUBMED   35633317
  REMARK    GeneRIF: AUP1 regulates lipid metabolism and induces lipid
            accumulation to accelerate the progression of renal clear cell
            carcinoma.
REFERENCE   4  (bases 1 to 1458)
  AUTHORS   Lohmann,D., Spandl,J., Stevanovic,A., Schoene,M.,
            Philippou-Massier,J. and Thiele,C.
  TITLE     Monoubiquitination of ancient ubiquitous protein 1 promotes lipid
            droplet clustering
  JOURNAL   PLoS One 8 (9), e72453 (2013)
   PUBMED   24039768
  REMARK    GeneRIF: Monoubiquitinated AUP1 on the lipid droplet surface
            specifically induces clustering.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1458)
  AUTHORS   Christianson,J.C., Olzmann,J.A., Shaler,T.A., Sowa,M.E.,
            Bennett,E.J., Richter,C.M., Tyler,R.E., Greenblatt,E.J.,
            Harper,J.W. and Kopito,R.R.
  TITLE     Defining human ERAD networks through an integrative mapping
            strategy
  JOURNAL   Nat Cell Biol 14 (1), 93-105 (2011)
   PUBMED   22119785
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1458)
  AUTHORS   Klemm,E.J., Spooner,E. and Ploegh,H.L.
  TITLE     Dual role of ancient ubiquitous protein 1 (AUP1) in lipid droplet
            accumulation and endoplasmic reticulum (ER) protein quality control
  JOURNAL   J Biol Chem 286 (43), 37602-37614 (2011)
   PUBMED   21857022
  REMARK    GeneRIF: Dual role of ancient ubiquitous protein 1 (AUP1) in lipid
            droplet accumulation and endoplasmic reticulum (ER) protein quality
            control.
REFERENCE   7  (bases 1 to 1458)
  AUTHORS   Spandl,J., Lohmann,D., Kuerschner,L., Moessinger,C. and Thiele,C.
  TITLE     Ancient ubiquitous protein 1 (AUP1) localizes to lipid droplets and
            binds the E2 ubiquitin conjugase G2 (Ube2g2) via its G2 binding
            region
  JOURNAL   J Biol Chem 286 (7), 5599-5606 (2011)
   PUBMED   21127063
  REMARK    GeneRIF: The presence of the AUP1-Ube2g2 complex at LDs provides a
            direct molecular link between LDs and the cellular ubiquitination
            machinery.
REFERENCE   8  (bases 1 to 1458)
  AUTHORS   Ghosh,D., Lippert,D., Krokhin,O., Cortens,J.P. and Wilkins,J.A.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   9  (bases 1 to 1458)
  AUTHORS   Kato,A., Kawamata,N., Tamayose,K., Egashira,M., Miura,R.,
            Fujimura,T., Murayama,K. and Oshimi,K.
  TITLE     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
  JOURNAL   J Biol Chem 277 (32), 28934-28941 (2002)
   PUBMED   12042322
  REMARK    GeneRIF: binding of Aup1 plays a crucial role in the
            alpha(IIb)beta(3) inside-out signaling
REFERENCE   10 (bases 1 to 1458)
  AUTHORS   Jang,W., Weber,J.S., Bashir,R., Bushby,K. and Meisler,M.H.
  TITLE     Aup1, a novel gene on mouse chromosome 6 and human chromosome 2p13
  JOURNAL   Genomics 36 (2), 366-368 (1996)
   PUBMED   8812468
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY078082.1, AF165515.1 and
            AI580873.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_181575.4.
            
            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].
            
            Transcript Variant: This variant (2) represents the shortest
            transcript and encodes the functional protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.559767.1,
                                           SRR1163655.500782.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000377526.4/ ENSP00000366748.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-29                HY078082.1         193-221
            30-1457             AF165515.1         1-1428
            1458-1458           AI580873.1         12-12               c
FEATURES             Location/Qualifiers
     source          1..1458
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.1"
     gene            1..1458
                     /gene="AUP1"
                     /note="AUP1 lipid droplet regulating VLDL assembly factor"
                     /db_xref="GeneID:550"
                     /db_xref="HGNC:HGNC:891"
                     /db_xref="MIM:602434"
     exon            1..127
                     /gene="AUP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             78..1310
                     /gene="AUP1"
                     /note="ancient ubiquitous protein 1"
                     /codon_start=1
                     /product="lipid droplet-regulating VLDL assembly factor
                     AUP1"
                     /protein_id="NP_853553.1"
                     /db_xref="CCDS:CCDS42702.1"
                     /db_xref="GeneID:550"
                     /db_xref="HGNC:HGNC:891"
                     /db_xref="MIM:602434"
                     /translation="MELPSGPGPERLFDSHRLPGDCFLLLVLLLYAPVGFCLLVLRLF
                     LGIHVFLVSCALPDSVLRRFVVRTMCAVLGLVARQEDSGLRDHSVRVLISNHVTPFDH
                     NIVNLLTTCSTPLLNSPPSFVCWSRGFMEMNGRGELVESLKRFCASTRLPPTPLLLFP
                     EEEATNGREGLLRFSSWPFSIQDVVQPLTLQVQRPLVSVTVSDASWVSELLWSLFVPF
                     TVYQVRWLRPVHRQLGEANEEFALRVQQLVAKELGQTGTRLTPADKAEHMKRQRHPRL
                     RPQSAQSSFPPSPGPSPDVQLATLAQRVKEVLPHVPLGVIQRDLAKTGCVDLTITNLL
                     EGAVAFMPEDITKGTQSLPTASASKFPSSGPVTPQPTALTFAKSSWARQESLQERKQA
                     LYEYARRRFTERRAQEAD"
     exon            128..265
                     /gene="AUP1"
                     /inference="alignment:Splign:2.1.0"
     exon            266..416
                     /gene="AUP1"
                     /inference="alignment:Splign:2.1.0"
     exon            417..601
                     /gene="AUP1"
                     /inference="alignment:Splign:2.1.0"
     exon            602..674
                     /gene="AUP1"
                     /inference="alignment:Splign:2.1.0"
     exon            675..748
                     /gene="AUP1"
                     /inference="alignment:Splign:2.1.0"
     exon            749..815
                     /gene="AUP1"
                     /inference="alignment:Splign:2.1.0"
     exon            816..918
                     /gene="AUP1"
                     /inference="alignment:Splign:2.1.0"
     exon            919..1038
                     /gene="AUP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1039..1154
                     /gene="AUP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1155..1273
                     /gene="AUP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1274..1458
                     /gene="AUP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1435..1440
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AUP1"
                     /note="hexamer: ATTAAA"
     polyA_site      1458
                     /gene="AUP1"
                     /note="major polyA site"
ORIGIN      
        1 gccttcccaa gagcccctgc ggccgggcgc gaaaatggcg gcggcggcga cggccgggcg
       61 ctcctgaagc agcagttatg gagcttccct cagggccggg gccggagcgg ctctttgact
      121 cgcaccggct tccgggtgac tgcttcctac tgctcgtgct gctgctctac gcgccagtcg
      181 ggttctgcct cctcgtcctg cgcctctttc tcgggatcca cgtcttcctg gtcagctgcg
      241 cgctgccaga cagcgtcctt cgcagattcg tagtgcggac catgtgtgcg gtgctagggc
      301 tcgtggcccg gcaggaggac tccggactcc gggatcacag tgtcagggtc ctcatttcca
      361 accatgtgac acctttcgac cacaacatag tcaatttgct taccacctgt agcacccctc
      421 tactcaatag tccccccagc tttgtgtgct ggtctcgggg cttcatggag atgaatgggc
      481 ggggggagtt ggtggagtca ctcaagagat tctgtgcttc cacgaggctt ccccccactc
      541 ctctgctgct attccctgag gaagaggcca ccaatggccg ggaggggctc ctgcgcttca
      601 gttcctggcc attttctatc caagatgtgg tacaacctct taccctgcaa gttcagagac
      661 ccctggtctc tgtgacggtg tcagatgcct cctgggtctc agaactgctg tggtcacttt
      721 tcgtcccttt cacggtgtat caagtaaggt ggcttcgtcc tgttcatcgc caactagggg
      781 aagcgaatga ggagtttgca ctccgtgtac aacagctggt ggccaaggaa ttgggccaga
      841 cagggacacg gctcactcca gctgacaaag cagagcacat gaagcgacaa agacacccca
      901 gattgcgccc ccagtcagcc cagtcttctt tccctccctc ccctggtcct tctcctgatg
      961 tgcaactggc aactctggct cagagagtca aggaagtttt gccccatgtg ccattgggtg
     1021 tcatccagag agacctggcc aagactggct gtgtagactt gactatcact aatctgcttg
     1081 agggggccgt agctttcatg cctgaagaca tcaccaaggg aactcagtcc ctacccacag
     1141 cctctgcctc caagtttccc agctctggcc cggtgacccc tcagccaaca gccctaacat
     1201 ttgccaagtc ttcctgggcc cggcaggaga gcctgcagga gcgcaagcaa gcactatatg
     1261 aatacgcaag aaggagattc acagagagac gagcccagga ggctgactga gctcaaagga
     1321 acaggatggc acccagagcc gcaggacgga gactgggggc agccctcacc caactcacaa
     1381 caggctggat gggtgggtgg taaaaaggga aggatgaggc tcccccaatg tcacattaaa
     1441 ttcatggttt tcattcaa
//
