LOCUS       NM_006459               3487 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens ER lipid raft associated 1 (ERLIN1), transcript
            variant 1, mRNA.
ACCESSION   NM_006459
VERSION     NM_006459.4
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 3487)
  AUTHORS   Hua,F., Bonzerato,C.G., Keller,K.R., Guo,D., Luo,J. and
            Wojcikiewicz,R.J.H.
  TITLE     The erlin1/erlin2 complex binds to and stabilizes
            phosphatidylinositol 3-phosphate and regulates autophagy
  JOURNAL   Biochem Biophys Res Commun 731, 150397 (2024)
   PUBMED   39018973
  REMARK    GeneRIF: The erlin1/erlin2 complex binds to and stabilizes
            phosphatidylinositol 3-phosphate and regulates autophagy.
REFERENCE   2  (bases 1 to 3487)
  AUTHORS   Rendel,M.D., Vitali,C., Creasy,K.T., Zhang,D., Scorletti,E.,
            Huang,H., Seeling,K.S., Park,J., Hehl,L., Vell,M.S., Conlon,D.,
            Hayat,S., Phillips,M.C., Schneider,K.M., Rader,D.J. and
            Schneider,C.V.
  CONSRTM   Regeneron Center
  TITLE     The common p.Ile291Val variant of ERLIN1 enhances TM6SF2 function
            and is associated with protection against MASLD
  JOURNAL   Med 5 (8), 963-980 (2024)
   PUBMED   38776916
  REMARK    GeneRIF: The common p.Ile291Val variant of ERLIN1 enhances TM6SF2
            function and is associated with protection against MASLD.
REFERENCE   3  (bases 1 to 3487)
  AUTHORS   Teo,Q.W., Wong,H.H., Heunis,T., Stancheva,V., Hachim,A., Lv,H.,
            Siu,L., Ho,J., Lan,Y., Mok,C.K.P., Ulferts,R. and Sanyal,S.
  TITLE     Usp25-Erlin1/2 activity limits cholesterol flux to restrict virus
            infection
  JOURNAL   Dev Cell 58 (22), 2495-2509 (2023)
   PUBMED   37683630
  REMARK    GeneRIF: Usp25-Erlin1/2 activity limits cholesterol flux to
            restrict virus infection.
REFERENCE   4  (bases 1 to 3487)
  AUTHORS   Manganelli,V., Longo,A., Mattei,V., Recalchi,S., Riitano,G.,
            Caissutti,D., Capozzi,A., Sorice,M., Misasi,R. and Garofalo,T.
  TITLE     Role of ERLINs in the Control of Cell Fate through Lipid Rafts
  JOURNAL   Cells 10 (9), 2408 (2021)
   PUBMED   34572057
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3487)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   6  (bases 1 to 3487)
  AUTHORS   Yuan,X., Waterworth,D., Perry,J.R., Lim,N., Song,K., Chambers,J.C.,
            Zhang,W., Vollenweider,P., Stirnadel,H., Johnson,T., Bergmann,S.,
            Beckmann,N.D., Li,Y., Ferrucci,L., Melzer,D., Hernandez,D.,
            Singleton,A., Scott,J., Elliott,P., Waeber,G., Cardon,L.,
            Frayling,T.M., Kooner,J.S. and Mooser,V.
  TITLE     Population-based genome-wide association studies reveal six loci
            influencing plasma levels of liver enzymes
  JOURNAL   Am J Hum Genet 83 (4), 520-528 (2008)
   PUBMED   18940312
  REMARK    GeneRIF: Observational study, meta-analysis, and genome-wide
            association study of gene-disease association. (HuGE Navigator)
REFERENCE   7  (bases 1 to 3487)
  AUTHORS   Lyssand,J.S., DeFino,M.C., Tang,X.B., Hertz,A.L., Feller,D.B.,
            Wacker,J.L., Adams,M.E. and Hague,C.
  TITLE     Blood pressure is regulated by an alpha1D-adrenergic
            receptor/dystrophin signalosome
  JOURNAL   J Biol Chem 283 (27), 18792-18800 (2008)
   PUBMED   18468998
REFERENCE   8  (bases 1 to 3487)
  AUTHORS   Browman,D.T., Resek,M.E., Zajchowski,L.D. and Robbins,S.M.
  TITLE     Erlin-1 and erlin-2 are novel members of the prohibitin family of
            proteins that define lipid-raft-like domains of the ER
  JOURNAL   J Cell Sci 119 (Pt 15), 3149-3160 (2006)
   PUBMED   16835267
  REMARK    GeneRIF: Erlin-1 and erlin-2 are novel members of the prohibitin
            family of proteins that define lipid-raft-like domains of the ER.
REFERENCE   9  (bases 1 to 3487)
  AUTHORS   Li,N., Huang,X., Zhao,Z., Chen,G., Zhang,W. and Cao,X.
  TITLE     Identification and characterization of a novel gene KE04
            differentially expressed by activated human dendritic cells
  JOURNAL   Biochem Biophys Res Commun 279 (2), 487-493 (2000)
   PUBMED   11118313
REFERENCE   10 (bases 1 to 3487)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL138921.14, BU192550.1,
            BC031791.1 and BQ101058.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_006459.3.
            
            Summary: The protein encoded by this gene is part of a protein
            complex that mediates degradation of inositol 1,4,5-trisphosphate
            receptors in the endoplasmic reticulum. The encoded protein also
            binds cholesterol and regulates the SREBP signaling pathway, which
            promotes cellular cholesterol homeostasis. Defects in this gene
            have been associated with spastic paraplegia 62. [provided by
            RefSeq, Dec 2016].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1-6 all encode the same isoform (a).
            
            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 :: BC031791.1, SRR1660805.246511.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000421367.7/ ENSP00000410964.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-52                AL138921.14        100080-100131       c
            53-383              BU192550.1         1-331
            384-1707            BC031791.1         1-1324
            1708-3225           AL138921.14        64458-65975         c
            3226-3487           BQ101058.1         1-262
FEATURES             Location/Qualifiers
     source          1..3487
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.31"
     gene            1..3487
                     /gene="ERLIN1"
                     /gene_synonym="C10orf69; Erlin-1; KE04; KEO4; SPFH1;
                     SPG62"
                     /note="ER lipid raft associated 1"
                     /db_xref="GeneID:10613"
                     /db_xref="HGNC:HGNC:16947"
                     /db_xref="MIM:611604"
     exon            1..516
                     /gene="ERLIN1"
                     /gene_synonym="C10orf69; Erlin-1; KE04; KEO4; SPFH1;
                     SPG62"
                     /inference="alignment:Splign:2.1.0"
     CDS             404..1450
                     /gene="ERLIN1"
                     /gene_synonym="C10orf69; Erlin-1; KE04; KEO4; SPFH1;
                     SPG62"
                     /note="isoform a is encoded by transcript variant 1;
                     Band_7 23-211 Keo4 (Interim) similar to C.elegans protein
                     C42C1.9; SPFH domain family, member 1; SPFH
                     domain-containing protein 1; endoplasmic reticulum lipid
                     raft-associated protein 1;
                     stomatin-prohibitin-flotillin-HflC/K domain-containing
                     protein 1"
                     /codon_start=1
                     /product="erlin-1 isoform a"
                     /protein_id="NP_006450.2"
                     /db_xref="CCDS:CCDS7487.2"
                     /db_xref="GeneID:10613"
                     /db_xref="HGNC:HGNC:16947"
                     /db_xref="MIM:611604"
                     /translation="MNMTQARVLVAAVVGLVAVLLYASIHKIEEGHLAVYYRGGALLT
                     SPSGPGYHIMLPFITTFRSVQTTLQTDEVKNVPCGTSGGVMIYIDRIEVVNMLAPYAV
                     FDIVRNYTADYDKTLIFNKIHHELNQFCSAHTLQEVYIELFDQIDENLKQALQKDLNL
                     MAPGLTIQAVRVTKPKIPEAIRRNFELMEAEKTKLLIAAQKQKVVEKEAETERKKAVI
                     EAEKIAQVAKIRFQQKVMEKETEKRISEIEDAAFLAREKAKADAEYYAAHKYATSNKH
                     KLTPEYLELKKYQAIASNSKIYFGSNIPNMFVDSSCALKYSDIRTGRESSLPSKEALE
                     PSGENVIQNKESTG"
     exon            517..598
                     /gene="ERLIN1"
                     /gene_synonym="C10orf69; Erlin-1; KE04; KEO4; SPFH1;
                     SPG62"
                     /inference="alignment:Splign:2.1.0"
     exon            599..645
                     /gene="ERLIN1"
                     /gene_synonym="C10orf69; Erlin-1; KE04; KEO4; SPFH1;
                     SPG62"
                     /inference="alignment:Splign:2.1.0"
     exon            646..707
                     /gene="ERLIN1"
                     /gene_synonym="C10orf69; Erlin-1; KE04; KEO4; SPFH1;
                     SPG62"
                     /inference="alignment:Splign:2.1.0"
     exon            708..833
                     /gene="ERLIN1"
                     /gene_synonym="C10orf69; Erlin-1; KE04; KEO4; SPFH1;
                     SPG62"
                     /inference="alignment:Splign:2.1.0"
     exon            834..907
                     /gene="ERLIN1"
                     /gene_synonym="C10orf69; Erlin-1; KE04; KEO4; SPFH1;
                     SPG62"
                     /inference="alignment:Splign:2.1.0"
     exon            908..966
                     /gene="ERLIN1"
                     /gene_synonym="C10orf69; Erlin-1; KE04; KEO4; SPFH1;
                     SPG62"
                     /inference="alignment:Splign:2.1.0"
     exon            967..1058
                     /gene="ERLIN1"
                     /gene_synonym="C10orf69; Erlin-1; KE04; KEO4; SPFH1;
                     SPG62"
                     /inference="alignment:Splign:2.1.0"
     exon            1059..1148
                     /gene="ERLIN1"
                     /gene_synonym="C10orf69; Erlin-1; KE04; KEO4; SPFH1;
                     SPG62"
                     /inference="alignment:Splign:2.1.0"
     exon            1149..1228
                     /gene="ERLIN1"
                     /gene_synonym="C10orf69; Erlin-1; KE04; KEO4; SPFH1;
                     SPG62"
                     /inference="alignment:Splign:2.1.0"
     exon            1229..3487
                     /gene="ERLIN1"
                     /gene_synonym="C10orf69; Erlin-1; KE04; KEO4; SPFH1;
                     SPG62"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3467..3472
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERLIN1"
                     /gene_synonym="C10orf69; Erlin-1; KE04; KEO4; SPFH1;
                     SPG62"
                     /note="hexamer: AATAAA"
     polyA_site      3487
                     /gene="ERLIN1"
                     /gene_synonym="C10orf69; Erlin-1; KE04; KEO4; SPFH1;
                     SPG62"
                     /note="major polyA site"
ORIGIN      
        1 gttggcggcg gttggctcgg cgcgggagtc ggctgcacgt gcgggcgggg gcgatgcgtc
       61 actgatcggt gaggcgcggc cgaggggtcg gctttcctcg cgagcctgcg gctgggcttc
      121 ttctcagtta gtgccttcca cccgggagcg acccttggga gagggagttt caggaagctc
      181 accgagcagg ggcggcccac tggcctccgg gggcggagga gttggcaagg ggtcagcggg
      241 ctcagccaga agggaagaat gaggggacag gggtactgga ctccccggct cagcctgcga
      301 gagagcgcca agtttccgga gggagagggt agaaactgga gggggtggac ctgtcactca
      361 cgggactgag ggtccttttc tcccgctccc aggaggaacg agaatgaata tgactcaagc
      421 ccgggttctg gtggctgcag tggtggggtt ggtggctgtc ctgctctacg cctccatcca
      481 caagattgag gagggccatc tggctgtgta ctacagggga ggagctttac taactagccc
      541 cagtggacca ggctatcata tcatgttgcc tttcattact acgttcagat ctgtgcagac
      601 aacactacaa actgatgaag ttaaaaatgt gccttgtgga acaagtggtg gggtcatgat
      661 ctatattgac cgaatagaag tggttaatat gttggctcct tatgcagtgt ttgatatcgt
      721 gaggaactat actgcagatt atgacaagac cttaatcttc aataaaatcc accatgagct
      781 gaaccagttc tgcagtgccc acacacttca ggaagtttac attgaattgt ttgatcaaat
      841 agatgaaaac ctgaagcaag ctctgcagaa agacttaaac ctcatggccc caggtctcac
      901 tatacaggct gtgcgtgtta caaaacccaa aatcccagaa gccataagaa gaaattttga
      961 gttaatggag gctgagaaga caaaactcct tatagctgca cagaaacaaa aggttgtgga
     1021 aaaagaagct gagacagaga ggaaaaaggc agttatagaa gcagagaaga ttgcacaagt
     1081 ggcaaaaatt cggtttcagc agaaagtgat ggaaaaagaa actgaaaagc gcatttctga
     1141 aatcgaagat gctgcattcc tggcccgaga gaaagcgaaa gcagatgctg aatattatgc
     1201 tgcacacaaa tatgccacct caaacaagca caagttgacc ccggaatatc tggagctcaa
     1261 aaagtaccag gccattgctt ctaacagtaa gatctatttt ggcagcaaca tccctaacat
     1321 gttcgtggac tcctcatgtg ctttgaaata ttcagatatt aggactggaa gagaaagctc
     1381 actcccctct aaggaggctc ttgaaccctc tggagagaac gtcatccaaa acaaagagag
     1441 cacaggttga tgcaagaggt ggaaatgttc tccatatcaa gatgtggccc aaggggttaa
     1501 gtgggaacaa tcattatacg gactcttcag atttacagag aacttacact tcatctgttc
     1561 cacctctcct gcgatagtcc tgggtgctcc actgattgga ggatagagcc agctgtctga
     1621 cacacaaatg gtcttttcag ccacagtctt atcaagtatc ctatatgtat tcctttctaa
     1681 actgctactc atgaatgagg aaagtctgat gctaagatac tgcctgcact ggaatgttaa
     1741 acactaaata tataacaagc tgtgttttcc taagctgaga tctgttgaat aatgtttaca
     1801 ttcgtccccc ggggaaatgt atgctcagcc accattcaag agatgactga gaaggagatg
     1861 gtaagttcaa gaagactgat tgcacctggg acccaggccc tttctttggg atccagtccc
     1921 agccttcatc catgtgatta agatccaggc cgctgaagtt ccccaggaaa tgatcttcca
     1981 cttgagcaac cttttacttg atacgatttg cacctttctg ttttcctgca gtcagggtgg
     2041 tggcctgcag ggacctgagc tttgctaccc aaccagattc ctcatagaga ttcctaatca
     2101 ctagtttctt gtattcataa actcagagat acagagggct tggtttgaag ttggggtgag
     2161 atgaaacctt tgctctgagc caaagctctg gggccttgca ttccctgcat tgggttgatg
     2221 actgtcagca tcactgccgc aggccatgct tgactaaggt acctggtttt agccacagcc
     2281 acctccttgt atgttacctt tcagctctgg ccaagagtgg gacagggttt taaccacaaa
     2341 taggagcagc atgcaattcc tagtgacttg ctgcacagta ttgtatcata attacaggaa
     2401 gtttttattt ttaaaactgg atctggggta tattcatttg ccccatcacc tctgtctaaa
     2461 ggcccaagtc ctagggctgc catggtcaca agcacactga tgctccttaa gattgtttat
     2521 ctggagccca catagtgtgg aacaaaaagt cacctagaaa gcatccttgg tcatcattgt
     2581 ctccttccca cctggcccag agatgcttaa atccaagttg tttctccagc tgtcacctcc
     2641 cccaggagat caggattcca ctgacgtcct gggcagccag tgaatttaat tttccatgag
     2701 aaacaacaga gttaacctgt ggcattagga gacctacttc atgtggaccc tttttttcct
     2761 tcagtttaac ttttctggag cagtgtgctg cgtagttcgg cctgagtttg tgcagcttgt
     2821 taagacaact cttgtgtacg ctatgttgaa gctcaacaaa aaagtcatgg gaccacttct
     2881 agaaatcttt cagctgtcag gcctgtcagt ctcatgacag tttgttggtt gtgccaaaca
     2941 ctttatttgg gaaaggaaag cccagatttg aatgggtctt tcccctgggc cttatcctat
     3001 agaggcattt gtaatatgga gaaaataatt tttcattttt gctcatttaa ttctataaat
     3061 tctctttata aatgaatttt gtgttcttta gttctcctta aaagaacttt tgaattataa
     3121 aaataaaatc tttacctgtc gaattgttgc tgcagatgat tgttgtggaa aatctggatc
     3181 attgacctct gtgctttcat tcctagagat gttttatagt tacatgagca aaagctgttg
     3241 ccccaaagtg atggccctgg aggcggggct gaggaacagg gaaatgccgc tgtgaagtct
     3301 taaagcactt ctgcttaaac tcccatgtgt gaggagtgtg cctccctgtg ccctctcagc
     3361 tctgaggctg gccgtctttc ggggtgttcc ttttggcaaa tatacactgt aatcttgagt
     3421 ctaaatttat atgttgaaat gctacctttt ttaaaataag aaactaaata aaattatttt
     3481 actatca
//
