LOCUS       NM_014241               2234 bp    mRNA    linear   PRI 18-JUL-2024
DEFINITION  Homo sapiens 3-hydroxyacyl-CoA dehydratase 1 (HACD1), mRNA.
ACCESSION   NM_014241
VERSION     NM_014241.4
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 2234)
  AUTHORS   Zhou,Y., Lv,R., Ye,R.D., Ren,R. and Yu,L.
  TITLE     The 3-hydroxyacyl-CoA dehydratase 1/2 form complex with
            trans-2-enoyl-CoA reductase involved in substrates transfer in very
            long chain fatty acid elongation
  JOURNAL   Biochem Biophys Res Commun 704, 149588 (2024)
   PUBMED   38422897
  REMARK    GeneRIF: The 3-hydroxyacyl-CoA dehydratase 1/2 form complex with
            trans-2-enoyl-CoA reductase involved in substrates transfer in very
            long chain fatty acid elongation.
REFERENCE   2  (bases 1 to 2234)
  AUTHORS   Abbasi-Moheb,L., Westenberger,A., Alotaibi,M., Alghamdi,M.A.,
            Hertecant,J.L., Ariamand,A., Beetz,C., Rolfs,A.,
            Bertoli-Avella,A.M. and Bauer,P.
  TITLE     Biallelic loss-of-function HACD1 variants are a bona fide cause of
            congenital myopathy
  JOURNAL   Clin Genet 99 (4), 513-518 (2021)
   PUBMED   33354762
  REMARK    GeneRIF: Biallelic loss-of-function HACD1 variants are a bona fide
            cause of congenital myopathy.
REFERENCE   3  (bases 1 to 2234)
  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   4  (bases 1 to 2234)
  AUTHORS   Sawai,M., Uchida,Y., Ohno,Y., Miyamoto,M., Nishioka,C., Itohara,S.,
            Sassa,T. and Kihara,A.
  TITLE     The 3-hydroxyacyl-CoA dehydratases HACD1 and HACD2 exhibit
            functional redundancy and are active in a wide range of fatty acid
            elongation pathways
  JOURNAL   J Biol Chem 292 (37), 15538-15551 (2017)
   PUBMED   28784662
  REMARK    GeneRIF: Mutations in HACD1 can result in myopathies in humans;
            knockout mice lacking Hacd1 develop myopathic phenotypes. Data
            (including data from studies using knockout mice and cultured cells
            from knockout mice) suggest that HACD1 and HACD2 exhibit
            overlapping substrate specificities and thus appear to represent
            redundant activities in skeletal muscle.
REFERENCE   5  (bases 1 to 2234)
  AUTHORS   Walmsley,G.L., Blot,S., Venner,K., Sewry,C., Laporte,J.,
            Blondelle,J., Barthelemy,I., Maurer,M., Blanchard-Gutton,N.,
            Pilot-Storck,F., Tiret,L. and Piercy,R.J.
  TITLE     Progressive Structural Defects in Canine Centronuclear Myopathy
            Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane
            Systems
  JOURNAL   Am J Pathol 187 (2), 441-456 (2017)
   PUBMED   27939133
  REMARK    GeneRIF: Longitudinal analyses in myopathic Labrador retrievers
            reveal several membrane-associated defects, including
            ultrastructural triads dysmorphogenesis and mitochondrial
            mislocalization in Labrador retrievers with deficiencies in the
            canine HACD1 gene.
REFERENCE   6  (bases 1 to 2234)
  AUTHORS   Grupe,A., Li,Y., Rowland,C., Nowotny,P., Hinrichs,A.L., Smemo,S.,
            Kauwe,J.S., Maxwell,T.J., Cherny,S., Doil,L., Tacey,K., van
            Luchene,R., Myers,A., Wavrant-De Vrieze,F., Kaleem,M.,
            Hollingworth,P., Jehu,L., Foy,C., Archer,N., Hamilton,G.,
            Holmans,P., Morris,C.M., Catanese,J., Sninsky,J., White,T.J.,
            Powell,J., Hardy,J., O'Donovan,M., Lovestone,S., Jones,L.,
            Morris,J.C., Thal,L., Owen,M., Williams,J. and Goate,A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2234)
  AUTHORS   Pele,M., Tiret,L., Kessler,J.L., Blot,S. and Panthier,J.J.
  TITLE     SINE exonic insertion in the PTPLA gene leads to multiple splicing
            defects and segregates with the autosomal recessive centronuclear
            myopathy in dogs
  JOURNAL   Hum Mol Genet 14 (11), 1417-1427 (2005)
   PUBMED   15829503
  REMARK    GeneRIF: A loss-of-function mutation in the canine ortholog of
            HACD1 that was identified by genetic mapping in a French pedigree
            of Labrador retrievers causes a congenital myopathy named
            centronuclear myopathy (CNM) in Labrador retrievers.
            Erratum:[Hum Mol Genet. 2005 Jul 1;14(13):1905-6]
REFERENCE   8  (bases 1 to 2234)
  AUTHORS   Li,D., Gonzalez,O., Bachinski,L.L. and Roberts,R.
  TITLE     Human protein tyrosine phosphatase-like gene: expression profile,
            genomic structure, and mutation analysis in families with ARVD
  JOURNAL   Gene 256 (1-2), 237-243 (2000)
   PUBMED   11054553
REFERENCE   9  (bases 1 to 2234)
  AUTHORS   Uwanogho,D.A., Hardcastle,Z., Balogh,P., Mirza,G., Thornburg,K.L.,
            Ragoussis,J. and Sharpe,P.T.
  TITLE     Molecular cloning, chromosomal mapping, and developmental
            expression of a novel protein tyrosine phosphatase-like gene
  JOURNAL   Genomics 62 (3), 406-416 (1999)
   PUBMED   10644438
REFERENCE   10 (bases 1 to 2234)
  AUTHORS   Robertson,N.G., Khetarpal,U., Gutierrez-Espeleta,G.A., Bieber,F.R.
            and Morton,C.C.
  TITLE     Isolation of novel and known genes from a human fetal cochlear cDNA
            library using subtractive hybridization and differential screening
  JOURNAL   Genomics 23 (1), 42-50 (1994)
   PUBMED   7829101
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC010353.1, AY455942.1,
            AW022173.1 and AC069542.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_014241.3.
            
            Summary: The protein encoded by this gene contains a characteristic
            catalytic motif of the protein tyrosine phosphatases (PTPs) family.
            The PTP motif of this protein has the highly conserved arginine
            residue replaced by a proline residue; thus it may represent a
            distinct class of PTPs. Members of the PTP family are known to be
            signaling molecules that regulate a variety of cellular processes.
            This gene was preferentially expressed in both adult and fetal
            heart. A much lower expression level was detected in skeletal and
            smooth muscle tissues, and no expression was observed in other
            tissues. The tissue specific expression in the developing and adult
            heart suggests a role in regulating cardiac development and
            differentiation. [provided by RefSeq, Jul 2008].
            
            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 :: SRR1660805.156834.1,
                                           SRR1660805.35148.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000361271.8/ ENSP00000355308.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-224               BC010353.1         5-228
            225-410             AY455942.1         226-411
            411-993             BC010353.1         415-997
            994-1235            AW022173.1         181-422
            1236-1307           AW022173.1         424-495
            1308-2234           AC069542.7         145761-146687
FEATURES             Location/Qualifiers
     source          1..2234
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p12.33"
     gene            1..2234
                     /gene="HACD1"
                     /gene_synonym="CAP; CMYO11; CMYP11; MYONP; PTPLA"
                     /note="3-hydroxyacyl-CoA dehydratase 1"
                     /db_xref="GeneID:9200"
                     /db_xref="HGNC:HGNC:9639"
                     /db_xref="MIM:610467"
     exon            1..292
                     /gene="HACD1"
                     /gene_synonym="CAP; CMYO11; CMYP11; MYONP; PTPLA"
                     /inference="alignment:Splign:2.1.0"
     CDS             36..902
                     /gene="HACD1"
                     /gene_synonym="CAP; CMYO11; CMYP11; MYONP; PTPLA"
                     /EC_number="4.2.1.134"
                     /note="cementum attachment protein; very-long-chain
                     (3R)-3-hydroxyacyl-[acyl-carrier protein] dehydratase 1;
                     protein tyrosine phosphatase-like (proline instead of
                     catalytic arginine), member A"
                     /codon_start=1
                     /product="very-long-chain (3R)-3-hydroxyacyl-CoA
                     dehydratase 1"
                     /protein_id="NP_055056.3"
                     /db_xref="CCDS:CCDS7121.1"
                     /db_xref="GeneID:9200"
                     /db_xref="HGNC:HGNC:9639"
                     /db_xref="MIM:610467"
                     /translation="MGRLTEAAAAGSGSRAAGWAGSPPTLLPLSPTSPRCAATMASSD
                     EDGTNGGASEAGEDREAPGERRRLGVLATAWLTFYDIAMTAGWLVLAIAMVRFYMEKG
                     THRGLYKSIQKTLKFFQTFALLEIVHCLIGIVPTSVIVTGVQVSSRIFMVWLITHSIK
                     PIQNEESVVLFLVAWTVTEITRYSFYTFSLLDHLPYFIKWARYNFFIILYPVGVAGEL
                     LTIYAALPHVKKTGMFSIRLPNKYNVSFDYYYFLLITMASYIPLFPQLYFHMLRQRRK
                     VLHGEVIVEKDD"
     exon            293..410
                     /gene="HACD1"
                     /gene_synonym="CAP; CMYO11; CMYP11; MYONP; PTPLA"
                     /inference="alignment:Splign:2.1.0"
     exon            411..429
                     /gene="HACD1"
                     /gene_synonym="CAP; CMYO11; CMYP11; MYONP; PTPLA"
                     /inference="alignment:Splign:2.1.0"
     exon            430..518
                     /gene="HACD1"
                     /gene_synonym="CAP; CMYO11; CMYP11; MYONP; PTPLA"
                     /inference="alignment:Splign:2.1.0"
     exon            519..640
                     /gene="HACD1"
                     /gene_synonym="CAP; CMYO11; CMYP11; MYONP; PTPLA"
                     /inference="alignment:Splign:2.1.0"
     exon            641..819
                     /gene="HACD1"
                     /gene_synonym="CAP; CMYO11; CMYP11; MYONP; PTPLA"
                     /inference="alignment:Splign:2.1.0"
     exon            820..2234
                     /gene="HACD1"
                     /gene_synonym="CAP; CMYO11; CMYP11; MYONP; PTPLA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      973..978
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HACD1"
                     /gene_synonym="CAP; CMYO11; CMYP11; MYONP; PTPLA"
                     /note="hexamer: AATAAA"
     polyA_site      996
                     /gene="HACD1"
                     /gene_synonym="CAP; CMYO11; CMYP11; MYONP; PTPLA"
                     /note="major polyA site"
     regulatory      1286..1291
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HACD1"
                     /gene_synonym="CAP; CMYO11; CMYP11; MYONP; PTPLA"
                     /note="hexamer: AATAAA"
     regulatory      1298..1303
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HACD1"
                     /gene_synonym="CAP; CMYO11; CMYP11; MYONP; PTPLA"
                     /note="hexamer: ATTATA"
     polyA_site      1307
                     /gene="HACD1"
                     /gene_synonym="CAP; CMYO11; CMYP11; MYONP; PTPLA"
     polyA_site      1315
                     /gene="HACD1"
                     /gene_synonym="CAP; CMYO11; CMYP11; MYONP; PTPLA"
     regulatory      2215..2220
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HACD1"
                     /gene_synonym="CAP; CMYO11; CMYP11; MYONP; PTPLA"
                     /note="hexamer: AATAAA"
     polyA_site      2234
                     /gene="HACD1"
                     /gene_synonym="CAP; CMYO11; CMYP11; MYONP; PTPLA"
ORIGIN      
        1 agagctggct gcgccgagcc ccctgcgcgc tgcacatggg gcgcctgacg gaagcggcgg
       61 cagcgggcag cggctctcgg gctgcaggct gggcagggtc ccctcccacg ctcctgccgc
      121 tgtctcccac gtcccccagg tgcgcggcca ccatggcgtc cagcgacgag gacggcacca
      181 acggcggcgc ctcggaggcc ggcgaggacc gggaggctcc cggcgagcgg aggcgcctgg
      241 gggtcttggc caccgcctgg ctcaccttct acgacatcgc catgaccgcg gggtggttgg
      301 ttctagctat tgccatggta cgtttttata tggaaaaagg aacacacaga ggtttatata
      361 aaagtattca gaagacactt aaatttttcc agacatttgc cttgcttgag atagttcact
      421 gtttaattgg aattgtacct acttctgtga ttgtgactgg ggtccaagtg agttcaagaa
      481 tctttatggt gtggctcatt actcacagta taaaaccaat ccagaatgaa gagagtgtgg
      541 tgctttttct ggtcgcgtgg actgtgacag agatcactcg ctattccttc tacacattca
      601 gccttcttga ccacttgcca tacttcatta aatgggccag atataatttt tttatcatct
      661 tatatcctgt tggagttgct ggtgaacttc ttacaatata cgctgccttg ccgcatgtga
      721 agaaaacagg aatgttttca ataagacttc ctaacaaata caatgtctct tttgactact
      781 attattttct tcttataacc atggcatcat atataccttt gtttccacaa ctctattttc
      841 atatgttacg tcaaagaaga aaggtgcttc atggagaggt gattgtagaa aaggatgatt
      901 aaatgatctc tgcaaacaag gtgctttttc cagaataacc aagattacct gagtccaagt
      961 tttaataaca agaataaaca actttgtgaa atatcatgga ttgtatggtt tcttaaaata
     1021 taacttgaga cacgtggtat ttgccagtat ttgtgttcct cttgtgccag atctattttt
     1081 tacaagaact gtgcaaatat cagtaacttt tgggtaggta ttgattatta ggaaaataat
     1141 taggtgtatt atctggggga aaaaaaaact tttgctaagt tttttttgaa acatgctcaa
     1201 agctttttaa atcaatattt agaaattagt ttaacgattt actattatac ctgctagtga
     1261 tatttatgtg atatttataa atgaaaataa atgcaaaatt ataacaactt gttaataatg
     1321 tattggtatt tttgaaccca caatctattt tttcaggaat aaggcagcat tatgactaat
     1381 aacagtgttt ggaagcgtgg atataatttg ctaaagtaag acttttgatg tagataaagt
     1441 agcagcataa aaacacacaa atattcaagt agatgtcaca gttggaaaat attctttgga
     1501 aatatttcta ggcagctgaa attacttata ctgctaagga aatctgcttt ttatttaaat
     1561 tagccactta aggacaaggt tttcaactgt gaaggtttta aggggttagg aagagcataa
     1621 gtatttgccc cactattaaa aaaaaaacat gacatctgac tataatgttg tattcaggct
     1681 gggagtggta gctcatgcct gtaatcccag cactttggaa gactgaggca ggaggatcgt
     1741 ttgagcccag aagttcaagg ccagtctggg caacatagca agaccccatc cctaaaaaaa
     1801 ttacaaacaa aaaaaattaa ccaggcatgg tgacacatgc ctgtagttcc agctgcttgg
     1861 gaggctgagg tgggaggatc acttgagccc aggaattcaa ggttacaatg agctatgatg
     1921 gtaccactgt acttaagcct gggtgacaga gcaagaccct gtctctgaaa aatagtgatg
     1981 atgatgatga tgatgataac gatgatgagg aagatgatca tgctgtactc agaactttgg
     2041 ttgagaaagt cttctctata ctgtagaatt atcttgtaac aattgttatg ataatccctt
     2101 tgtggtactt aggtaactaa acattttggg gtatgatctt tggacagact cctttcattc
     2161 tgaattccat tgaatagcaa aaggtcttgt aataaagttc ctgtccttgt gtttaataaa
     2221 aaaaatacac caga
//
