LOCUS       NM_198402               4125 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens 3-hydroxyacyl-CoA dehydratase 2 (HACD2), transcript
            variant 2, mRNA.
ACCESSION   NM_198402
VERSION     NM_198402.5
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 4125)
  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 4125)
  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   3  (bases 1 to 4125)
  AUTHORS   Fasci,D., van Ingen,H., Scheltema,R.A. and Heck,A.J.R.
  TITLE     Histone Interaction Landscapes Visualized by Crosslinking Mass
            Spectrometry in Intact Cell Nuclei
  JOURNAL   Mol Cell Proteomics 17 (10), 2018-2033 (2018)
   PUBMED   30021884
REFERENCE   4  (bases 1 to 4125)
  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 4125)
  AUTHORS   Ikeda,M., Kanao,Y., Yamanaka,M., Sakuraba,H., Mizutani,Y.,
            Igarashi,Y. and Kihara,A.
  TITLE     Characterization of four mammalian 3-hydroxyacyl-CoA dehydratases
            involved in very long-chain fatty acid synthesis
  JOURNAL   FEBS Lett 582 (16), 2435-2440 (2008)
   PUBMED   18554506
REFERENCE   6  (bases 1 to 4125)
  AUTHORS   Wang,B., Pelletier,J., Massaad,M.J., Herscovics,A. and Shore,G.C.
  TITLE     The yeast split-ubiquitin membrane protein two-hybrid screen
            identifies BAP31 as a regulator of the turnover of endoplasmic
            reticulum-associated protein tyrosine phosphatase-like B
  JOURNAL   Mol Cell Biol 24 (7), 2767-2778 (2004)
   PUBMED   15024066
  REMARK    GeneRIF: Data describe a novel human member of the protein tyrosine
            phosphatase-like B (PTPLB) family, an integral protein of the
            endoplasmic reticulum membrane, as a BAP31-interacting protein.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY191814.1.
            
            On Nov 22, 2018 this sequence version replaced NM_198402.4.
            
            Summary: The protein encoded by this gene can catalyze the third
            step (dehydration) in the conversion of long chain fatty acids to
            very long chain fatty acids. The encoded protein localizes to the
            endoplasmic reticulum membrane. [provided by RefSeq, Jul 2016].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon compared to variant 1. The resulting isoform (b) has the same
            N- and C-termini but is shorter compared to isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY191814.1, BC049369.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2159080 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000383657.10/ ENSP00000373153.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4125              AY191814.1         137-4261
FEATURES             Location/Qualifiers
     source          1..4125
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q21.1"
     gene            1..4125
                     /gene="HACD2"
                     /gene_synonym="PTPLB"
                     /note="3-hydroxyacyl-CoA dehydratase 2"
                     /db_xref="GeneID:201562"
                     /db_xref="HGNC:HGNC:9640"
                     /db_xref="MIM:615939"
     exon            1..181
                     /gene="HACD2"
                     /gene_synonym="PTPLB"
                     /inference="alignment:Splign:2.1.0"
     CDS             27..791
                     /gene="HACD2"
                     /gene_synonym="PTPLB"
                     /EC_number="4.2.1.134"
                     /note="isoform b is encoded by transcript variant 2;
                     protein-tyrosine phosphatase-like member B;
                     very-long-chain (3R)-3-hydroxyacyl-[acyl-carrier protein]
                     dehydratase 2; very-long-chain (3R)-3-hydroxyacyl-CoA
                     dehydratase 2; protein tyrosine phosphatase-like (proline
                     instead of catalytic arginine), member b"
                     /codon_start=1
                     /product="very-long-chain (3R)-3-hydroxyacyl-CoA
                     dehydratase 2 isoform b"
                     /protein_id="NP_940684.1"
                     /db_xref="CCDS:CCDS46895.1"
                     /db_xref="GeneID:201562"
                     /db_xref="HGNC:HGNC:9640"
                     /db_xref="MIM:615939"
                     /translation="MAAVAATAAAKGNGGGGGRAGAGDASGTRKKKGPGPLATAYLVI
                     YNVVMTAGWLVIAVGLVRAYLAKGSYHSLYYSIEKPLKFFQTGALLEILHCAIGIVPS
                     SVVLTSFQVMSRVFLIWAVTHSVKEVQSEDSVLLFVIAWTITEIIRYSFYTFSLLNHL
                     PYLIKWARYTLFIVLYPMGVSGELLTIYAALPFVRQAGLYSISLPNKYNFSFDYYAFL
                     ILIMISYIPIFPQLYFHMIHQRRKILSHTEEHKKFE"
     exon            182..299
                     /gene="HACD2"
                     /gene_synonym="PTPLB"
                     /inference="alignment:Splign:2.1.0"
     exon            300..318
                     /gene="HACD2"
                     /gene_synonym="PTPLB"
                     /inference="alignment:Splign:2.1.0"
     exon            319..407
                     /gene="HACD2"
                     /gene_synonym="PTPLB"
                     /inference="alignment:Splign:2.1.0"
     exon            408..529
                     /gene="HACD2"
                     /gene_synonym="PTPLB"
                     /inference="alignment:Splign:2.1.0"
     exon            530..708
                     /gene="HACD2"
                     /gene_synonym="PTPLB"
                     /inference="alignment:Splign:2.1.0"
     exon            709..4125
                     /gene="HACD2"
                     /gene_synonym="PTPLB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4092..4097
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HACD2"
                     /gene_synonym="PTPLB"
                     /note="hexamer: AATAAA"
     polyA_site      4125
                     /gene="HACD2"
                     /gene_synonym="PTPLB"
                     /note="major polyA site"
ORIGIN      
        1 aggagagcgg gcttcgggca cttgacatgg cggcagtggc ggcgactgca gcagcgaagg
       61 ggaatggggg cggcggtggc agggccgggg ccggggacgc cagcggcacg cggaagaaga
      121 agggcccggg gcccctggcc acggcgtacc tggtcatcta caatgtggtg atgacagccg
      181 ggtggctggt tatagcggtt ggtctggtcc gagcatacct ggctaagggt agctaccata
      241 gcctttatta ttcaattgaa aagcctttga aattctttca aactggagcc ttattggaga
      301 ttttacattg tgctatagga attgttccat cttctgttgt cctgacttct ttccaggtga
      361 tgtcaagagt ttttctaata tgggcagtaa cacatagcgt caaagaggta cagagtgaag
      421 acagtgtcct cctgtttgtt attgcatgga cgatcacgga aatcatccgt tactcctttt
      481 atacattcag tctattaaac catctgcctt acctcatcaa atgggccagg tacacacttt
      541 tcattgtgct gtacccaatg ggagtgtcag gagaactgct cacaatatat gcagctctgc
      601 cctttgtcag acaagctggc ctatattcca tcagtttacc caacaaatac aatttctctt
      661 ttgactacta tgcattcctg attctaataa tgatctccta cattccaatt tttccccagt
      721 tatacttcca catgatacac cagagaagaa agatcctttc tcatactgaa gaacacaaga
      781 aatttgaata gttcctgctt tctgcacctc ccaccaaaac aaacttttca atgatcaaaa
      841 aatgctgcag attttttgag ttcccaatac gtttcataga aaataagtaa gaactatttt
      901 taaaatattc aaacaaaact aaaacaaaaa tccagtgtca catgggcctg agattttatt
      961 ttagaaaaag gttgttacat aaaacaccct ggccagttca tttcagcatg ctctttcaac
     1021 cagaagttct taatatttat gatggcacta gaaagggatt tggcatttta tgtccttctg
     1081 tgtccttcat gtatctgatc aatgaagacc tgtaacacta agtacttgag agttacagtc
     1141 tgaataatga agtcgtacca gctgaatagc ccagcttgca gtatagttat gtttcagtct
     1201 gcagtgtgtt tagcattccc ttgtcaaagt gcttgactgc atgctggaaa ctttgtattt
     1261 ttgaagcggc aaactctgtt ctctggaatg ctctgaagtt atggctggga cctatcccct
     1321 cacatctaat gaatgaatta taaaatgtat atgtctatga agcttcgggg tagtgcctgt
     1381 aatcagaaaa caacttagaa cccttttgtt tgtttccaat tgagtcatta ctgcctgcca
     1441 ctaagaaacg tgcttgaatc taataagtat gtgtgtaccg taaagaatat atcttatctg
     1501 gagctcagcc tcaatcatgt cttaacaaaa tgacaggtct cagaaagggg gagctcaata
     1561 gctcaaaagt gacaagtcct tttcacagca ccattctcag aacacctctg agtaacgtgt
     1621 ttgccagtag ctattctcac tgatgcactg atggccctga agaagcggat ccagtcacat
     1681 aggaaaggag gctgtgttag tgaaagcaca tggaaggtgt tgctttagaa aggtagtcag
     1741 gaaaaacatt caggaataga tttatacacc attattgttt tatttttaaa ttttcattca
     1801 ctcttctgtt tggatacttt tgctaattaa cttcctatgt taatttccac caagctataa
     1861 gtccatagtc agtaaaacat tccccttggg ctgtcatgag ctaaaagcag tgtcatctcc
     1921 gcatgttgga gcagccaaga aatagtttgg tactaccgac attgtctaat ccatgtcaca
     1981 tcctcataca atttaattgc tcaaccatgc atttaaaact cctcaagaaa ggattggtac
     2041 tgcaactgta ggtaaactga aaaaaaataa gaaagaaaga gttggatgaa aatgtgaaag
     2101 cccaagttta gatgtgcatt aagtattaaa tagcacagta tcttcttcat ggagcctttt
     2161 ttcctccccc atcccctgca gctgcctttt tttgggggca gggtgggggt tgatgttgaa
     2221 ctttaagagt ttaaaagttt agcttattga gtagttgtca tttaaaatat aattgcgaat
     2281 atcagaaaac tcatactgga aaactaaatt ttttttttct cttgagacgg agtctcgctc
     2341 tgttgcccag gctggagtgc agtggcgcga tctcagctca ctgcaagctc cacctcccgg
     2401 gttcacgcca tcctcctgcc tcagcctcct gagtagctgg gactacaggt gcctgccacc
     2461 acacccagct aatttttttt gtatttttag tagagacggg gtttcaccgt gttagccagg
     2521 atggtcttga tctcctgacc tcgtgatcca cccgcctcag cctcccaaag tgctgggatt
     2581 gcaggcatga gccactgcac ccaacccctg gaaaactaaa tttttaagtg cttattttta
     2641 tagaagtttg aaaatttaat gcaggcaggt gtgtaataaa ttatttttga attgaacatt
     2701 aaaattctgc ttcttaaagt cagcactcaa cttggacatg ttgaaattag aatctattct
     2761 tgtatttgat agacaaaata tgtgggaaag attttttgca tgacttttct ctcattttat
     2821 tcttccataa tgtatttcta ctataaaata gaatcaactt gggttatatt tgtcatttac
     2881 tttgttctgt tagatttttt cagttgtttt tggaaaaatt ctagaaatca ggatgaaaaa
     2941 tgcagctttt ccagggttgc tggactgggg gttttatttg ggcctcctta ttataatttg
     3001 tcactactta taaaaaacat tctgttgcaa acagtggtgt tgcattgaat tgaactttgg
     3061 caatgagaac acagcacaca gctccctttt caaaaagggt ctcaacccca gtgtgtattt
     3121 ttgtacatca acatttagaa tacttatggc agataagtaa ggcatgtcac tgtgtccttc
     3181 agtaacctct ctcagtaact ggtttcttta tccctaacat gaattcattt ctcctttgaa
     3241 gtcatttatt attttataaa ttgagaacaa ccacaccacc aaatgtcaca ccttcttata
     3301 aagtgtgaac aaggaaggtc atgtttttgt gggtattttg tcagacttag aggtttcatt
     3361 tcagggcata gtcaaaggca tcatcctccc aactacccac ttgattatgt atttcagatc
     3421 cctccgtggg ggccttcttc tgacagagaa ttctttgagg tccgcagtag tgcttttgtc
     3481 agcacagact gctaatctac atcttgctgc gttctgtttg ctgaggttgg gcttattcat
     3541 ttaacacata ccaaccatta tccagaggca ccatggagag ttagtcatgg aataaagcac
     3601 tgtccttgca gatgaaaaaa gtctccagag cagacttctg acaggaaagg tttagatgct
     3661 ggagagttga agaggtgtaa gaagagatcg tgccctcatt tttcacttat ttttttggtt
     3721 attcatttat aataaaaggt tggcattgat atggtacaac ctgcaaatta cttgcagttc
     3781 tgagtttcag ataaaacatt ataaaacatt aaattcaata catactgctc ctttgaaatt
     3841 tgggtaaaaa attgtacaac cgtatatata gtcatttttg tattttttct atgttgtgaa
     3901 aaccaaaatt gtaattttat aagtctttga ttcactaaaa ttatataatt taaatgtatt
     3961 ttttgtatat ttagaaataa ggagtccaga gactacgctt aactttctat gcatgcattt
     4021 gaaagctgtt tttacctgat aatgtagtaa taagttgtat tcataaaata ctgatctgtg
     4081 ttgcatttca aaataaactg gtgtgtgctc tgcctggatt tgaaa
//
