LOCUS       NM_001301254            3456 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens acyl-CoA binding domain containing 5 (ACBD5),
            transcript variant 6, mRNA.
ACCESSION   NM_001301254 NR_073196
VERSION     NM_001301254.2
KEYWORDS    RefSeq.
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 3456)
  AUTHORS   Costello,J.L., Koster,J., Silva,B.S.C., Worthy,H.L., Schrader,T.A.,
            Hacker,C., Passmore,J., Kuypers,F.A., Waterham,H.R. and Schrader,M.
  TITLE     Differential roles for ACBD4 and ACBD5 in peroxisome-ER
            interactions and lipid metabolism
  JOURNAL   J Biol Chem 299 (8), 105013 (2023)
   PUBMED   37414147
  REMARK    GeneRIF: Differential roles for ACBD4 and ACBD5 in peroxisome-ER
            interactions and lipid metabolism.
REFERENCE   2  (bases 1 to 3456)
  AUTHORS   Kors,S., Hacker,C., Bolton,C., Maier,R., Reimann,L.,
            Kitchener,E.J.A., Warscheid,B., Costello,J.L. and Schrader,M.
  TITLE     Regulating peroxisome-ER contacts via the ACBD5-VAPB tether by FFAT
            motif phosphorylation and GSK3beta
  JOURNAL   J Cell Biol 221 (3) (2022)
   PUBMED   35019937
  REMARK    GeneRIF: Regulating peroxisome-ER contacts via the ACBD5-VAPB
            tether by FFAT motif phosphorylation and GSK3beta.
REFERENCE   3  (bases 1 to 3456)
  AUTHORS   Gorukmez,O., Havali,C., Gorukmez,O. and Dorum,S.
  TITLE     Newly defined peroxisomal disease with novel ACBD5 mutation
  JOURNAL   J Pediatr Endocrinol Metab 35 (1), 11-18 (2021)
   PUBMED   34668366
  REMARK    GeneRIF: Newly defined peroxisomal disease with novel ACBD5
            mutation.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3456)
  AUTHORS   Bartlett,M., Nasiri,N., Pressman,R., Bademci,G. and Forghani,I.
  TITLE     First reported adult patient with retinal dystrophy and
            leukodystrophy caused by a novel ACBD5 variant: A case report and
            review of literature
  JOURNAL   Am J Med Genet A 185 (4), 1236-1241 (2021)
   PUBMED   33427402
  REMARK    GeneRIF: First reported adult patient with retinal dystrophy and
            leukodystrophy caused by a novel ACBD5 variant: A case report and
            review of literature.
REFERENCE   5  (bases 1 to 3456)
  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 3456)
  AUTHORS   Nazarko,T.Y.
  TITLE     Atg37 regulates the assembly of the pexophagic receptor protein
            complex
  JOURNAL   Autophagy 10 (7), 1348-1349 (2014)
   PUBMED   24905344
  REMARK    GeneRIF: Yeast Atg37, which is homologous to human ACBD5, is
            involved in autophagy of peroxisomes.
REFERENCE   7  (bases 1 to 3456)
  AUTHORS   Nazarko,T.Y., Ozeki,K., Till,A., Ramakrishnan,G., Lotfi,P., Yan,M.
            and Subramani,S.
  TITLE     Peroxisomal Atg37 binds Atg30 or palmitoyl-CoA to regulate
            phagophore formation during pexophagy
  JOURNAL   J Cell Biol 204 (4), 541-557 (2014)
   PUBMED   24535825
REFERENCE   8  (bases 1 to 3456)
  AUTHORS   Abu-Safieh,L., Alrashed,M., Anazi,S., Alkuraya,H., Khan,A.O.,
            Al-Owain,M., Al-Zahrani,J., Al-Abdi,L., Hashem,M., Al-Tarimi,S.,
            Sebai,M.A., Shamia,A., Ray-Zack,M.D., Nassan,M., Al-Hassnan,Z.N.,
            Rahbeeni,Z., Waheeb,S., Alkharashi,A., Abboud,E., Al-Hazzaa,S.A.
            and Alkuraya,F.S.
  TITLE     Autozygome-guided exome sequencing in retinal dystrophy patients
            reveals pathogenetic mutations and novel candidate disease genes
  JOURNAL   Genome Res 23 (2), 236-247 (2013)
   PUBMED   23105016
REFERENCE   9  (bases 1 to 3456)
  AUTHORS   Punzo,F., Mientjes,E.J., Rohe,C.F., Scianguetta,S., Amendola,G.,
            Oostra,B.A., Bertoli-Avella,A.M. and Perrotta,S.
  TITLE     A mutation in the acyl-coenzyme A binding domain-containing protein
            5 gene (ACBD5) identified in autosomal dominant thrombocytopenia
  JOURNAL   J Thromb Haemost 8 (9), 2085-2087 (2010)
   PUBMED   20626622
  REMARK    GeneRIF: A mutation in the acyl-coenzyme A binding
            domain-containing protein 5 gene (ACBD5 ) may have a role in
            autosomal dominant thrombocytopenia
REFERENCE   10 (bases 1 to 3456)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from KF459530.2 and AL160291.31.
            
            On May 31, 2019 this sequence version replaced NM_001301254.1.
            
            Summary: This gene encodes a member of the acyl-Coenzyme A binding
            protein family, known to function in the transport and distribution
            of long chain acyl-Coenzyme A in cells. This gene may play a role
            in the differentiation of megakaryocytes and formation of
            platelets. A related protein in yeast is involved in autophagy of
            peroxisomes. A mutation in this gene has been associated with
            autosomal dominant thrombocytopenia. Alternative splicing results
            in multiple transcript variants. [provided by RefSeq, Jul 2014].
            
            Transcript Variant: This variant (6) differs in the 5' UTR, lacks
            part of the 5' coding region, lacks an in-frame exon in the central
            coding region, and uses a downstream start codon, compared to
            variant 1. The encoded isoform (5) is shorter, compared to isoform
            1.
            
            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 :: AK294510.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-43                KF459530.2         320-362
            44-168              AL160291.31        112621-112745       c
            169-241             AL160291.31        104050-104122       c
            242-356             AL160291.31        95640-95754         c
            357-491             AL160291.31        92025-92159         c
            492-598             AL160291.31        87837-87943         c
            599-866             AL160291.31        83116-83383         c
            867-1066            AL160291.31        80548-80747         c
            1067-1117           AL160291.31        77500-77550         c
            1118-1227           AL160291.31        76742-76851         c
            1228-3456           AL160291.31        67516-69744         c
FEATURES             Location/Qualifiers
     source          1..3456
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p12.1"
     gene            1..3456
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /note="acyl-CoA binding domain containing 5"
                     /db_xref="GeneID:91452"
                     /db_xref="HGNC:HGNC:23338"
                     /db_xref="MIM:616618"
     exon            1..168
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /inference="alignment:Splign:2.1.0"
     exon            169..241
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /inference="alignment:Splign:2.1.0"
     CDS             194..1240
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /note="isoform 5 is encoded by transcript variant 6;
                     acyl-Coenzyme A binding domain containing 5;
                     membrane-associated diazepam binding inhibitor;
                     endozepine-related protein"
                     /codon_start=1
                     /product="acyl-CoA-binding domain-containing protein 5
                     isoform 5"
                     /protein_id="NP_001288183.1"
                     /db_xref="GeneID:91452"
                     /db_xref="HGNC:HGNC:23338"
                     /db_xref="MIM:616618"
                     /translation="MTKEEAMIAYVEEMKKIIETMPMTEKVEELLRVIGPFYEIVEDK
                     KSGRSSDITSDLGNVLTSTPNAKTVNGKAESSDSGAESEEEEAQEEVKGAEQSDNDIN
                     DDHVEDVTGIQHLTSDSDSEVYCDSMEQFGQEESLDSFTSNNGPFQYYLGGHSSQPME
                     NSGFREDIQVPPGNGNIGNMQVVAVEGKGEVKHGGEDGRNNSGAPHREKRGGETDEFS
                     NVRRGRGHRMQHLSEGTKGRQVGSGGDGERWGSDRGSRGSLNEQIALVLMRLQEDMQN
                     VLQRLQKLETLTALQAKSSTSTLQTAPQPTSQRPSWWPFEMSPGVLTFAIIWPFIAQW
                     LVYLYYQRRRRKLN"
     exon            242..356
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /inference="alignment:Splign:2.1.0"
     exon            357..491
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /inference="alignment:Splign:2.1.0"
     exon            492..598
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /inference="alignment:Splign:2.1.0"
     exon            599..866
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /inference="alignment:Splign:2.1.0"
     exon            867..1066
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /inference="alignment:Splign:2.1.0"
     exon            1067..1117
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /inference="alignment:Splign:2.1.0"
     exon            1118..1227
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /inference="alignment:Splign:2.1.0"
     exon            1228..3456
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2342
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /note="major polyA site"
     regulatory      3434..3439
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /note="hexamer: AATAAA"
     polyA_site      3456
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /note="major polyA site"
ORIGIN      
        1 agtttcatgc aggctcttgg gaaagctggt gctgctgctg cctgattccc gccgacagac
       61 cttgggaccg gggccaacac tggcagctgg agatggcgga cacgagatcc gtgcacgaga
      121 ctaggtttga ggcggccgtg aaggtgatcc agagtttgcc gaagaatggg atgcttggag
      181 ttcactgggt gatatgacca aagaggaagc catgattgca tatgttgaag aaatgaaaaa
      241 gattattgaa actatgccaa tgactgagaa agttgaagaa ttgctgcgtg tcataggtcc
      301 attttatgaa attgtcgagg acaaaaagag tggcaggagt tctgatataa cctcagatct
      361 tggtaatgtt ctcacttcta ctccaaacgc caaaaccgtt aatggtaaag ctgaaagcag
      421 tgacagtgga gccgagtctg aggaagaaga ggcccaagaa gaagtgaaag gagcagaaca
      481 aagtgataat gatataaatg atgatcatgt tgaagatgtt acaggaattc agcatttgac
      541 aagcgattca gacagtgaag tttactgtga ttctatggaa caatttggac aagaagagtc
      601 tttagacagc tttacgtcca acaatggacc atttcagtat tacttgggtg gtcattccag
      661 tcaacccatg gaaaattctg gatttcgtga agatattcaa gtacctcctg gaaatggcaa
      721 cattgggaat atgcaggtgg ttgcagttga aggaaaaggt gaagtcaagc atggaggaga
      781 agatggcagg aataacagcg gagcaccaca ccgggagaag cgaggcggag aaactgacga
      841 attctctaat gttagaagag gaagaggaca taggatgcaa cacttgagcg aaggaaccaa
      901 gggccggcag gtgggaagtg gaggtgatgg ggagcgctgg ggctccgaca gagggtcccg
      961 aggcagcctc aatgagcaga tcgccctcgt gctgatgaga ctgcaggagg acatgcagaa
     1021 tgtccttcag agactgcaga aactggaaac gctgactgct ttgcaggcaa aatcatcaac
     1081 atcaacattg cagactgctc ctcagcccac ctcacagaga ccatcttggt ggcccttcga
     1141 gatgtctcct ggtgtgctaa cgtttgccat catatggcct tttattgcac agtggttggt
     1201 gtatttatac tatcaaagaa ggagaagaaa actgaactga ggaaaatggt gttttcctca
     1261 agaagactac tggaactgga tgacctcaga atgaactgga ttgtggtgtt cacaagaaaa
     1321 tcttagtttg tgatgattac attgcttttt gttgtccagt agtttagttt gtgtacatat
     1381 atacacatat atattttgca ctacacaaac gataacattt taaggactaa tattgctgat
     1441 acttgaataa tcaatctcta ctaggttata agtagtatac acagatttac cctgcccttg
     1501 aacttgaagg acattaaatt attaatgatc atttggtaac atgtttacct gattatcttc
     1561 catagagtaa cataagctgc ttttcaaagg taccattgtg ataatgagat caaatttata
     1621 agttattatt tttaattttc taaattaaat aaaagaaaga atgcaaacca ggagtgaatt
     1681 tcaaatgaga tgtaatcgac tttatatctt agtcacggag ttgccatggc atgtagtaga
     1741 aaaccacagg aagaatggtc atattcactt tgtgggctgc ccataatctt tcttgggcat
     1801 tcacaactct tgagtttggt gttcaggcat cattattaaa aagtggagtc ctatgtacca
     1861 gactgagttt ttacaaatga tttgcaggct agacataacc cactgatgga aatggtgaag
     1921 aatgagcttc atgtaggttt aaaagtgtat tctgagcctg tagatgatta atcaggtttt
     1981 tattcaatca tataaatgta ttcctttgta atcatttttg tttaactgag gatatctagt
     2041 gtctgcttca tagggtgctt tgaaatataa aatgaaaact tatttatact gtttttacaa
     2101 cagtcaaaaa ggaaacacac gaaaatcact tttctgcaac tgatgaacta tatagactgg
     2161 actcttaacc tcttagtgcc tcagtttttc cttcggggta tactatttta gatacaccta
     2221 cttcacagga gtactggagg gatttgcaag ctaacgggcc aaatgcttcc ataggaataa
     2281 ggcatgccca gctaacagaa atttaagtcc ctcttcccca cctctctcat ctagaccaaa
     2341 aagaagacta caatttagat ccttggagac ttttcctgta tgccttccaa aacttcctgc
     2401 tcacttagat gtaccttgtg ctttgaagat ttctttgatg cagtctttgt aacaaataat
     2461 tttttttttt aaatggagtt tctctcttgt tgcccaggct ggagggcaat ggcgtgatct
     2521 tggctcactg caacttccac ctcctgggtt caagtgattc tcctgcctca ctcccaagta
     2581 gctgggatta caggcatgca ccaccatgcc tggctaattt tgtattttta gtagagacgg
     2641 ggtttctcca tgttggtaag gctgatctca aactcccaac ctcaggtgat ctgcctgcct
     2701 cggcctccca aagtgctggg attagaggcg tgagccactg cacctggcct gtagcaaata
     2761 atttttaagc attctcaaga tgtatgatgt tgggtttaac atcatatgtt cacagtgttt
     2821 taaataagaa ataatctgtc tttagtatac agaatggttc tttgtttgcc tgaaaagtat
     2881 aagaatacaa tttacttttc ccaaactctt tttccttatt tttttctttc aaataacttt
     2941 aattatttaa tcccatactg attaaaatat gtctgtctaa agggatctac tactatttgc
     3001 ttttaaaaaa gtgttcccta tttatttagg aaaaagtgaa gcaagcaact gaatttatat
     3061 gtaaaaataa catttagacc tgtggatcaa agattatttt caaaaatgag atatcaattt
     3121 ggtatcagta aaaagtgtct tttctcttag tatataaata aataaaatgc aaattaagag
     3181 tgtaagcagt tgtgaatcat tacaagcagt ctgggataac taactcctag ggataaccat
     3241 ttctatcctg ttccaaagtc ttattttata gtttgaaaag cactttgcac acagttcttg
     3301 tatataaaag taaagatgta attataggat atagtgttcc tgctttgttt aataagaacc
     3361 tcatttaaac ttgacagcta tggtattttt ttaatgataa cttcttttct gtttattgta
     3421 aaactaagtt aaaaataaaa ggttaatgag aaatga
//
