LOCUS       NM_145698               3903 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens acyl-CoA binding domain containing 5 (ACBD5),
            transcript variant 1, mRNA.
ACCESSION   NM_145698
VERSION     NM_145698.5
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 3903)
  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 3903)
  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 3903)
  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 3903)
  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 3903)
  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 3903)
  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 3903)
  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 3903)
  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 3903)
  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 3903)
  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.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_145698.4.
            
            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 (1) encodes 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 :: SRR1660807.93210.1,
                                           SRR1660805.71646.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000396271.8/ ENSP00000379568.3
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-124               KF459530.2         9-132
            125-165             KF459530.2         322-362
            166-290             AL160291.31        112621-112745       c
            291-411             AL160291.31        107394-107514       c
            412-484             AL160291.31        104050-104122       c
            485-599             AL160291.31        95640-95754         c
            600-734             AL160291.31        92025-92159         c
            735-938             AL160291.31        90282-90485         c
            939-1045            AL160291.31        87837-87943         c
            1046-1313           AL160291.31        83116-83383         c
            1314-1513           AL160291.31        80548-80747         c
            1514-1564           AL160291.31        77500-77550         c
            1565-1674           AL160291.31        76742-76851         c
            1675-3903           AL160291.31        67516-69744         c
FEATURES             Location/Qualifiers
     source          1..3903
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p12.1"
     gene            1..3903
                     /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..124
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /inference="alignment:Splign:2.1.0"
     CDS             110..1687
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /note="isoform 1 is encoded by transcript variant 1;
                     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 1"
                     /protein_id="NP_663736.2"
                     /db_xref="CCDS:CCDS44368.1"
                     /db_xref="GeneID:91452"
                     /db_xref="HGNC:HGNC:23338"
                     /db_xref="MIM:616618"
                     /translation="MLFLSFHAGSWESWCCCCLIPADRPWDRGQHWQLEMADTRSVHE
                     TRFEAAVKVIQSLPKNGSFQPTNEMMLKFYSFYKQATEGPCKLSRPGFWDPIGRYKWD
                     AWSSLGDMTKEEAMIAYVEEMKKIIETMPMTEKVEELLRVIGPFYEIVEDKKSGRSSD
                     ITSDLGNVLTSTPNAKTVNGKAESSDSGAESEEEEAQEEVKGAEQSDNDKKMMKKSAD
                     HKNLEVIVTNGYDKDGFVQDIQNDIHASSSLNGRSTEEVKPIDENLGQTGKSAVCIHQ
                     DINDDHVEDVTGIQHLTSDSDSEVYCDSMEQFGQEESLDSFTSNNGPFQYYLGGHSSQ
                     PMENSGFREDIQVPPGNGNIGNMQVVAVEGKGEVKHGGEDGRNNSGAPHREKRGGETD
                     EFSNVRRGRGHRMQHLSEGTKGRQVGSGGDGERWGSDRGSRGSLNEQIALVLMRLQED
                     MQNVLQRLQKLETLTALQAKSSTSTLQTAPQPTSQRPSWWPFEMSPGVLTFAIIWPFI
                     AQWLVYLYYQRRRRKLN"
     exon            125..290
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /inference="alignment:Splign:2.1.0"
     exon            291..411
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /inference="alignment:Splign:2.1.0"
     exon            412..484
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /inference="alignment:Splign:2.1.0"
     exon            485..599
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /inference="alignment:Splign:2.1.0"
     exon            600..734
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /inference="alignment:Splign:2.1.0"
     exon            735..938
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /inference="alignment:Splign:2.1.0"
     exon            939..1045
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /inference="alignment:Splign:2.1.0"
     exon            1046..1313
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /inference="alignment:Splign:2.1.0"
     exon            1314..1513
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /inference="alignment:Splign:2.1.0"
     exon            1514..1564
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /inference="alignment:Splign:2.1.0"
     exon            1565..1674
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /inference="alignment:Splign:2.1.0"
     exon            1675..3903
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2789
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /note="major polyA site"
     regulatory      3881..3886
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /note="hexamer: AATAAA"
     polyA_site      3903
                     /gene="ACBD5"
                     /gene_synonym="RDLKD"
                     /note="major polyA site"
ORIGIN      
        1 agacggactc cggcggaatg gggggtgtgg ctgctccgcc agggtcccca gggtgggaga
       61 gcggctccgc ggccaccgat gcccggaccc cctctgtctt ctgctagaca tgctcttcct
      121 ctcgtttcat gcaggctctt gggaaagctg gtgctgctgc tgcctgattc ccgccgacag
      181 accttgggac cggggccaac actggcagct ggagatggcg gacacgagat ccgtgcacga
      241 gactaggttt gaggcggccg tgaaggtgat ccagagtttg ccgaagaatg gttcattcca
      301 gccaacaaat gaaatgatgc ttaaatttta tagcttctat aagcaggcaa ctgaaggacc
      361 ctgtaaactt tcaaggcctg gattttggga tcctattgga agatataaat gggatgcttg
      421 gagttcactg ggtgatatga ccaaagagga agccatgatt gcatatgttg aagaaatgaa
      481 aaagattatt gaaactatgc caatgactga gaaagttgaa gaattgctgc gtgtcatagg
      541 tccattttat gaaattgtcg aggacaaaaa gagtggcagg agttctgata taacctcaga
      601 tcttggtaat gttctcactt ctactccaaa cgccaaaacc gttaatggta aagctgaaag
      661 cagtgacagt ggagccgagt ctgaggaaga agaggcccaa gaagaagtga aaggagcaga
      721 acaaagtgat aatgataaga aaatgatgaa gaagtcagca gaccataaga atttggaagt
      781 cattgtcact aatggctatg ataaagatgg ctttgttcag gatatacaga atgacattca
      841 tgccagttct tccctgaatg gcagaagcac tgaagaagta aagcccattg atgaaaactt
      901 ggggcaaact ggaaaatctg ctgtttgcat tcaccaagat ataaatgatg atcatgttga
      961 agatgttaca ggaattcagc atttgacaag cgattcagac agtgaagttt actgtgattc
     1021 tatggaacaa tttggacaag aagagtcttt agacagcttt acgtccaaca atggaccatt
     1081 tcagtattac ttgggtggtc attccagtca acccatggaa aattctggat ttcgtgaaga
     1141 tattcaagta cctcctggaa atggcaacat tgggaatatg caggtggttg cagttgaagg
     1201 aaaaggtgaa gtcaagcatg gaggagaaga tggcaggaat aacagcggag caccacaccg
     1261 ggagaagcga ggcggagaaa ctgacgaatt ctctaatgtt agaagaggaa gaggacatag
     1321 gatgcaacac ttgagcgaag gaaccaaggg ccggcaggtg ggaagtggag gtgatgggga
     1381 gcgctggggc tccgacagag ggtcccgagg cagcctcaat gagcagatcg ccctcgtgct
     1441 gatgagactg caggaggaca tgcagaatgt ccttcagaga ctgcagaaac tggaaacgct
     1501 gactgctttg caggcaaaat catcaacatc aacattgcag actgctcctc agcccacctc
     1561 acagagacca tcttggtggc ccttcgagat gtctcctggt gtgctaacgt ttgccatcat
     1621 atggcctttt attgcacagt ggttggtgta tttatactat caaagaagga gaagaaaact
     1681 gaactgagga aaatggtgtt ttcctcaaga agactactgg aactggatga cctcagaatg
     1741 aactggattg tggtgttcac aagaaaatct tagtttgtga tgattacatt gctttttgtt
     1801 gtccagtagt ttagtttgtg tacatatata cacatatata ttttgcacta cacaaacgat
     1861 aacattttaa ggactaatat tgctgatact tgaataatca atctctacta ggttataagt
     1921 agtatacaca gatttaccct gcccttgaac ttgaaggaca ttaaattatt aatgatcatt
     1981 tggtaacatg tttacctgat tatcttccat agagtaacat aagctgcttt tcaaaggtac
     2041 cattgtgata atgagatcaa atttataagt tattattttt aattttctaa attaaataaa
     2101 agaaagaatg caaaccagga gtgaatttca aatgagatgt aatcgacttt atatcttagt
     2161 cacggagttg ccatggcatg tagtagaaaa ccacaggaag aatggtcata ttcactttgt
     2221 gggctgccca taatctttct tgggcattca caactcttga gtttggtgtt caggcatcat
     2281 tattaaaaag tggagtccta tgtaccagac tgagttttta caaatgattt gcaggctaga
     2341 cataacccac tgatggaaat ggtgaagaat gagcttcatg taggtttaaa agtgtattct
     2401 gagcctgtag atgattaatc aggtttttat tcaatcatat aaatgtattc ctttgtaatc
     2461 atttttgttt aactgaggat atctagtgtc tgcttcatag ggtgctttga aatataaaat
     2521 gaaaacttat ttatactgtt tttacaacag tcaaaaagga aacacacgaa aatcactttt
     2581 ctgcaactga tgaactatat agactggact cttaacctct tagtgcctca gtttttcctt
     2641 cggggtatac tattttagat acacctactt cacaggagta ctggagggat ttgcaagcta
     2701 acgggccaaa tgcttccata ggaataaggc atgcccagct aacagaaatt taagtccctc
     2761 ttccccacct ctctcatcta gaccaaaaag aagactacaa tttagatcct tggagacttt
     2821 tcctgtatgc cttccaaaac ttcctgctca cttagatgta ccttgtgctt tgaagatttc
     2881 tttgatgcag tctttgtaac aaataatttt tttttttaaa tggagtttct ctcttgttgc
     2941 ccaggctgga gggcaatggc gtgatcttgg ctcactgcaa cttccacctc ctgggttcaa
     3001 gtgattctcc tgcctcactc ccaagtagct gggattacag gcatgcacca ccatgcctgg
     3061 ctaattttgt atttttagta gagacggggt ttctccatgt tggtaaggct gatctcaaac
     3121 tcccaacctc aggtgatctg cctgcctcgg cctcccaaag tgctgggatt agaggcgtga
     3181 gccactgcac ctggcctgta gcaaataatt tttaagcatt ctcaagatgt atgatgttgg
     3241 gtttaacatc atatgttcac agtgttttaa ataagaaata atctgtcttt agtatacaga
     3301 atggttcttt gtttgcctga aaagtataag aatacaattt acttttccca aactcttttt
     3361 ccttattttt ttctttcaaa taactttaat tatttaatcc catactgatt aaaatatgtc
     3421 tgtctaaagg gatctactac tatttgcttt taaaaaagtg ttccctattt atttaggaaa
     3481 aagtgaagca agcaactgaa tttatatgta aaaataacat ttagacctgt ggatcaaaga
     3541 ttattttcaa aaatgagata tcaatttggt atcagtaaaa agtgtctttt ctcttagtat
     3601 ataaataaat aaaatgcaaa ttaagagtgt aagcagttgt gaatcattac aagcagtctg
     3661 ggataactaa ctcctaggga taaccatttc tatcctgttc caaagtctta ttttatagtt
     3721 tgaaaagcac tttgcacaca gttcttgtat ataaaagtaa agatgtaatt ataggatata
     3781 gtgttcctgc tttgtttaat aagaacctca tttaaacttg acagctatgg tattttttta
     3841 atgataactt cttttctgtt tattgtaaaa ctaagttaaa aataaaaggt taatgagaaa
     3901 tga
//
