LOCUS       NM_022786               1428 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens ARV1 homolog, fatty acid homeostasis modulator (ARV1),
            transcript variant 2, mRNA.
ACCESSION   NM_022786
VERSION     NM_022786.3
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 1428)
  AUTHORS   Salian,S., Scala,M., Nguyen,T.T.M., Severino,M., Accogli,A.,
            Amadori,E., Torella,A., Pinelli,M., Hudson,B., Boothe,M., Hurst,A.,
            Ben-Omran,T., Larsen,M.J., Fagerberg,C.R., Sperling,L.,
            Miceikaite,I., Herissant,L., Doco-Fenzy,M., Jennesson,M., Nigro,V.,
            Striano,P., Minetti,C., Sachdev,R.K., Palmer,E.E., Capra,V. and
            Campeau,P.M.
  TITLE     Epileptic encephalopathy caused by ARV1 deficiency: Refinement of
            the genotype-phenotype spectrum and functional impact on
            GPI-anchored proteins
  JOURNAL   Clin Genet 100 (5), 607-614 (2021)
   PUBMED   34296759
  REMARK    GeneRIF: Epileptic encephalopathy caused by ARV1 deficiency:
            Refinement of the genotype-phenotype spectrum and functional impact
            on GPI-anchored proteins.
REFERENCE   2  (bases 1 to 1428)
  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   3  (bases 1 to 1428)
  AUTHORS   Segel,R., Aran,A., Gulsuner,S., Nakamura,H., Rosen,T., Walsh,T.,
            Denda,H., Zeligson,S., Eto,K., Beeri,R., Okai,H., King,M.C.,
            Levy-Lahad,E., Funato,K. and Renbaum,P.
  TITLE     A defect in GPI synthesis as a suggested mechanism for the role of
            ARV1 in intellectual disability and seizures
  JOURNAL   Neurogenetics 21 (4), 259-267 (2020)
   PUBMED   32462292
  REMARK    GeneRIF: A defect in GPI synthesis as a suggested mechanism for the
            role of ARV1 in intellectual disability and seizures.
REFERENCE   4  (bases 1 to 1428)
  AUTHORS   Davids,M., Menezes,M., Guo,Y., McLean,S.D., Hakonarson,H.,
            Collins,F., Worgan,L., Billington,C.J. Jr., Maric,I.,
            Littlejohn,R.O., Onyekweli,T., Members Of The,Udn., Adams,D.R.,
            Tifft,C.J., Gahl,W.A., Wolfe,L.A., Christodoulou,J. and
            Malicdan,M.C.V.
  TITLE     Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis
            deficiency
  JOURNAL   Mol Genet Metab 130 (1), 49-57 (2020)
   PUBMED   32165008
  REMARK    GeneRIF: Homozygous splice-variants in human ARV1 cause GPI-anchor
            synthesis deficiency.
REFERENCE   5  (bases 1 to 1428)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 1428)
  AUTHORS   Ikeda,A., Kajiwara,K., Iwamoto,K., Makino,A., Kobayashi,T.,
            Mizuta,K. and Funato,K.
  TITLE     Complementation analysis reveals a potential role of human ARV1 in
            GPI anchor biosynthesis
  JOURNAL   Yeast 33 (2), 37-42 (2016)
   PUBMED   26460143
  REMARK    GeneRIF: Overexpression of human ARV1 could rescue the phenotypes
            associated with GPI anchor synthesis defect in the yeast arv1Delta
            mutant. Arv1 function in GPI biosynthesis may be conserved in all
            eukaryotes, from yeast to humans.
REFERENCE   7  (bases 1 to 1428)
  AUTHORS   Ruggles,K.V., Garbarino,J., Liu,Y., Moon,J., Schneider,K.,
            Henneberry,A., Billheimer,J., Millar,J.S., Marchadier,D.,
            Valasek,M.A., Joblin-Mills,A., Gulati,S., Munkacsi,A.B., Repa,J.J.,
            Rader,D. and Sturley,S.L.
  TITLE     A functional, genome-wide evaluation of liposensitive yeast
            identifies the 'ARE2 required for viability' (ARV1) gene product as
            a major component of eukaryotic fatty acid resistance
  JOURNAL   J Biol Chem 289 (7), 4417-4431 (2014)
   PUBMED   24273168
  REMARK    GeneRIF: These results implicate ARV1 as a protective factor in
            lipotoxic diseases due to modulation of fatty acid metabolism.
REFERENCE   8  (bases 1 to 1428)
  AUTHORS   Tong,F., Billheimer,J., Shechtman,C.F., Liu,Y., Crooke,R.,
            Graham,M., Cohen,D.E., Sturley,S.L. and Rader,D.J.
  TITLE     Decreased expression of ARV1 results in cholesterol retention in
            the endoplasmic reticulum and abnormal bile acid metabolism
  JOURNAL   J Biol Chem 285 (44), 33632-33641 (2010)
   PUBMED   20663892
  REMARK    GeneRIF: Arv1p has a role in sterol movement from the ER and in the
            ensuing regulation of hepatic cholesterol and bile acid metabolism
REFERENCE   9  (bases 1 to 1428)
  AUTHORS   Swain,E., Stukey,J., McDonough,V., Germann,M., Liu,Y., Sturley,S.L.
            and Nickels,J.T. Jr.
  TITLE     Yeast cells lacking the ARV1 gene harbor defects in sphingolipid
            metabolism. Complementation by human ARV1
  JOURNAL   J Biol Chem 277 (39), 36152-36160 (2002)
   PUBMED   12145310
  REMARK    GeneRIF: ARV1 plays a role in sphingolipid metabolism and
            complements yeast ARV1
REFERENCE   10 (bases 1 to 1428)
  AUTHORS   Tinkelenberg,A.H., Liu,Y., Alcantara,F., Khan,S., Guo,Z., Bard,M.
            and Sturley,S.L.
  TITLE     Mutations in yeast ARV1 alter intracellular sterol distribution and
            are complemented by human ARV1
  JOURNAL   J Biol Chem 275 (52), 40667-40670 (2000)
   PUBMED   11063737
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF290878.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_022786.2.
            
            Summary: this gene encodes a transmembrane protein that contains a
            conserved zinc ribbon motif at the N- terminus. A similar protein
            in mouse is thought to function in fatty acid homeostasis.
            Mutations in this gene are associated with early infantile
            epileptic encephalopathy 38. [provided by RefSeq, Nov 2016].
            
            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 :: AF290878.1, SRR1660807.408876.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000310256.7/ ENSP00000312458.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1428              AF290878.1         18-1445
FEATURES             Location/Qualifiers
     source          1..1428
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.2"
     gene            1..1428
                     /gene="ARV1"
                     /gene_synonym="DEE38; EIEE38"
                     /note="ARV1 homolog, fatty acid homeostasis modulator"
                     /db_xref="GeneID:64801"
                     /db_xref="HGNC:HGNC:29561"
                     /db_xref="MIM:611647"
     exon            1..186
                     /gene="ARV1"
                     /gene_synonym="DEE38; EIEE38"
                     /inference="alignment:Splign:2.1.0"
     CDS             13..828
                     /gene="ARV1"
                     /gene_synonym="DEE38; EIEE38"
                     /note="isoform 2 is encoded by transcript variant 2;
                     protein ARV1"
                     /codon_start=1
                     /product="protein ARV1 isoform 2"
                     /protein_id="NP_073623.1"
                     /db_xref="CCDS:CCDS1589.1"
                     /db_xref="GeneID:64801"
                     /db_xref="HGNC:HGNC:29561"
                     /db_xref="MIM:611647"
                     /translation="MGNGGRSGLQQGKGNVDGVAATPTAASASCQYRCIECNQEAKEL
                     YRDYNHGVLKITICKSCQKPVDKYIEYDPVIILINAILCKAQAYRHILFNTQINIHGK
                     LCIFCLLCEAYLRWWQLQDSNQNTAPDDLIRYAKEWDFYRMFAIAALEQTAYFIGIFT
                     FLWVERPMTAKKKPNFILLLKALLLSSYGKLLLIPAVIWEHDYTSVCLKLIKVFVLTS
                     NFQAIRVTLNINRKLSFLAVLSGLLLESIMVYFFQSMEWDVGSDYAIFKSQDF"
     exon            187..306
                     /gene="ARV1"
                     /gene_synonym="DEE38; EIEE38"
                     /inference="alignment:Splign:2.1.0"
     exon            307..460
                     /gene="ARV1"
                     /gene_synonym="DEE38; EIEE38"
                     /inference="alignment:Splign:2.1.0"
     exon            461..685
                     /gene="ARV1"
                     /gene_synonym="DEE38; EIEE38"
                     /inference="alignment:Splign:2.1.0"
     exon            686..832
                     /gene="ARV1"
                     /gene_synonym="DEE38; EIEE38"
                     /inference="alignment:Splign:2.1.0"
     exon            833..1428
                     /gene="ARV1"
                     /gene_synonym="DEE38; EIEE38"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1266..1271
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARV1"
                     /gene_synonym="DEE38; EIEE38"
                     /note="hexamer: AATAAA"
     polyA_site      1290
                     /gene="ARV1"
                     /gene_synonym="DEE38; EIEE38"
                     /note="major polyA site"
     regulatory      1406..1411
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARV1"
                     /gene_synonym="DEE38; EIEE38"
                     /note="hexamer: AATAAA"
     polyA_site      1428
                     /gene="ARV1"
                     /gene_synonym="DEE38; EIEE38"
ORIGIN      
        1 agttgagtgg aaatgggcaa cggcgggcgg agcggcctgc agcaggggaa ggggaacgtg
       61 gatggggtgg cagcgactcc tactgctgcc tcggcctcct gccagtacag gtgcatcgaa
      121 tgcaaccagg aggccaaaga gttgtaccga gactataacc acggtgtgct gaagataacc
      181 atctgtaaat cctgccagaa acctgtagac aaatatatcg agtatgatcc tgttatcatc
      241 ttgattaatg ctatattgtg caaagctcag gcctacagac atattctttt caatactcaa
      301 ataaatatcc atggaaaact ctgcatattt tgtttgcttt gtgaagcata cctgaggtgg
      361 tggcagcttc aagattccaa ccagaatact gcccctgatg acttgatcag atatgctaag
      421 gaatgggatt tctatagaat gtttgcgatt gctgctttag aacaaactgc ctattttatt
      481 ggcattttta ccttcctgtg ggtagaacgg cccatgacgg caaaaaaaaa gcccaacttc
      541 attttgctgc tgaaagcatt attattatct agctacggaa aactcttgct gattccagct
      601 gtcatttggg aacatgacta cacatctgtg tgcctcaaac tcattaaagt atttgttctt
      661 acatcaaatt ttcaggcaat tagagtgacc ctaaacatca accgtaagct ctccttcttg
      721 gccgtgttga gtggcttact gctggaaagc atcatggtct acttcttcca gagtatggaa
      781 tgggatgttg gaagtgatta tgccatcttt aaatctcagg acttctgaag agttttattc
      841 ttcttcacta tctgtggcat gaccagctgt atctgaaaga gaaaagacat gaaatataaa
      901 ccaacctcct catttctgtt gagtaaaatg aagcaaagat tggaaacact ttctgaaaaa
      961 gaaagcaatg ataatagcgg tggataccca cccccacaaa tgcacccaag agacaagcca
     1021 tttacataca gatattcaca gtcacacata gaaacaccca catggacaca aggaatgttg
     1081 ctgcagagac tgaatgacat gcaacaggtg aaggtttata cgttatacac aaggccaggt
     1141 aagcgctcat aattcacaca taataaaaca tctaggtttc attcctttga catgtttata
     1201 tctttttaat ttaaatgttg ttactggctt aaaatatttt gtgttcttac aatagaaacg
     1261 cttttaataa agtctttcag aataaaccaa gtttttgtaa attttcaatt caataattaa
     1321 ggtaatcttt aaaattggat gatccaaaaa taagtgataa tgaaaaccac tgagttatat
     1381 actttgcaag ggtaaattac atctgaataa agctgtaatt aaaaacaa
//
