LOCUS       NM_032756               1816 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens 4-hydroxyphenylpyruvate dioxygenase like (HPDL), mRNA.
ACCESSION   NM_032756
VERSION     NM_032756.4
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 1816)
  AUTHORS   Kojima,F., Okamoto,Y., Ando,M., Higuchi,Y., Hobara,T., Yuan,J.,
            Yoshimura,A., Hashiguchi,A., Matsuura,E. and Takashima,H.
  TITLE     A novel homozygous HPDL variant in Japanese siblings with autosomal
            recessive hereditary spastic paraplegia: case report and literature
            review
  JOURNAL   Neurogenetics 25 (2), 149-156 (2024)
   PUBMED   38286980
  REMARK    GeneRIF: A novel homozygous HPDL variant in Japanese siblings with
            autosomal recessive hereditary spastic paraplegia: case report and
            literature review.
            Review article
REFERENCE   2  (bases 1 to 1816)
  AUTHORS   Wang,Y., Zheng,X., Feng,C., Fan,X., Liu,L., Guo,P., Lei,Z. and
            Mei,S.
  TITLE     HPDL mutations identified by exome sequencing are associated with
            infant neurodevelopmental disorders
  JOURNAL   Mol Genet Genomic Med 10 (10), e2025 (2022)
   PUBMED   35985664
  REMARK    GeneRIF: HPDL mutations identified by exome sequencing are
            associated with infant neurodevelopmental disorders.
REFERENCE   3  (bases 1 to 1816)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   4  (bases 1 to 1816)
  AUTHORS   Yu,H., Wei,Q., Luo,W.J. and Wu,Z.Y.
  TITLE     Novel bi-allelic HPDL variants cause hereditary spastic paraplegia
            in a Chinese patient
  JOURNAL   Clin Genet 100 (6), 777-778 (2021)
   PUBMED   34515336
  REMARK    GeneRIF: Novel bi-allelic HPDL variants cause hereditary spastic
            paraplegia in a Chinese patient.
REFERENCE   5  (bases 1 to 1816)
  AUTHORS   Banh,R.S., Kim,E.S., Spillier,Q., Biancur,D.E., Yamamoto,K.,
            Sohn,A.S.W., Shi,G., Jones,D.R., Kimmelman,A.C. and Pacold,M.E.
  TITLE     The polar oxy-metabolome reveals the 4-hydroxymandelate CoQ10
            synthesis pathway
  JOURNAL   Nature 597 (7876), 420-425 (2021)
   PUBMED   34471290
REFERENCE   6  (bases 1 to 1816)
  AUTHORS   Wiessner,M., Maroofian,R., Ni,M.Y., Pedroni,A., Muller,J.S.,
            Stucka,R., Beetz,C., Efthymiou,S., Santorelli,F.M., Alfares,A.A.,
            Zhu,C., Uhrova Meszarosova,A., Alehabib,E., Bakhtiari,S.,
            Janecke,A.R., Otero,M.G., Chen,J.Y.H., Peterson,J.T., Strom,T.M.,
            De Jonghe,P., Deconinck,T., De Ridder,W., De Winter,J.,
            Pasquariello,R., Ricca,I., Alfadhel,M., van de Warrenburg,B.P.,
            Portier,R., Bergmann,C., Ghasemi Firouzabadi,S., Jin,S.C.,
            Bilguvar,K., Hamed,S., Abdelhameed,M., Haridy,N.A., Maqbool,S.,
            Rahman,F., Anwar,N., Carmichael,J., Pagnamenta,A., Wood,N.W., Tran
            Mau-Them,F., Haack,T., Di Rocco,M., Ceccherini,I., Iacomino,M.,
            Zara,F., Salpietro,V., Scala,M., Rusmini,M., Xu,Y., Wang,Y.,
            Suzuki,Y., Koh,K., Nan,H., Ishiura,H., Tsuji,S., Lambert,L.,
            Schmitt,E., Lacaze,E., Kupper,H., Dredge,D., Skraban,C.,
            Goldstein,A., Willis,M.J.H., Grand,K., Graham,J.M., Lewis,R.A.,
            Millan,F., Duman,O., Dundar,N., Uyanik,G., Schols,L., Nurnberg,P.,
            Nurnberg,G., Catala Bordes,A., Seeman,P., Kuchar,M., Darvish,H.,
            Rebelo,A., Boucanova,F., Medard,J.J., Chrast,R., Auer-Grumbach,M.,
            Alkuraya,F.S., Shamseldin,H., Al Tala,S., Rezazadeh Varaghchi,J.,
            Najafi,M., Deschner,S., Glaser,D., Huttel,W., Kruer,M.C.,
            Kamsteeg,E.J., Takiyama,Y., Zuchner,S., Baets,J., Synofzik,M.,
            Schule,R., Horvath,R., Houlden,H., Bartesaghi,L., Lee,H.J.,
            Ampatzis,K., Pierson,T.M. and Senderek,J.
  CONSRTM   Genomics England Research Consortium, PREPARE network
  TITLE     Biallelic variants in HPDL cause pure and complicated hereditary
            spastic paraplegia
  JOURNAL   Brain 144 (5), 1422-1434 (2021)
   PUBMED   33970200
  REMARK    GeneRIF: Biallelic variants in HPDL cause pure and complicated
            hereditary spastic paraplegia.
            Erratum:[Brain. 2021 Sep 4;144(8):e70. doi: 10.1093/brain/awab193..
            PMID: 34480796]
REFERENCE   7  (bases 1 to 1816)
  AUTHORS   Ghosh,S.G., Lee,S., Fabunan,R., Chai,G., Zaki,M.S., Abdel-Salam,G.,
            Sultan,T., Ben-Omran,T., Alvi,J.R., McEvoy-Venneri,J., Stanley,V.,
            Patel,A., Ross,D., Ding,J., Jain,M., Pan,D., Lubbert,P.,
            Kammerer,B., Wiedemann,N., Verhoeven-Duif,N.M., Jans,J.J.,
            Murphy,D., Toosi,M.B., Ashrafzadeh,F., Imannezhad,S.,
            Karimiani,E.G., Ibrahim,K., Waters,E.R., Maroofian,R. and
            Gleeson,J.G.
  TITLE     Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate
            dioxygenase-like protein, lead to an infantile neurodegenerative
            condition
  JOURNAL   Genet Med 23 (3), 524-533 (2021)
   PUBMED   33188300
  REMARK    GeneRIF: Biallelic variants in HPDL, encoding
            4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an
            infantile neurodegenerative condition.
REFERENCE   8  (bases 1 to 1816)
  AUTHORS   Husain,R.A., Grimmel,M., Wagner,M., Hennings,J.C., Marx,C.,
            Feichtinger,R.G., Saadi,A., Rostasy,K., Radelfahr,F., Bevot,A.,
            Dobler-Neumann,M., Hartmann,H., Colleaux,L., Cordts,I.,
            Kobeleva,X., Darvish,H., Bakhtiari,S., Kruer,M.C., Besse,A.,
            Ng,A.C., Chiang,D., Bolduc,F., Tafakhori,A., Mane,S., Ghasemi
            Firouzabadi,S., Huebner,A.K., Buchert,R., Beck-Woedl,S.,
            Muller,A.J., Laugwitz,L., Nagele,T., Wang,Z.Q., Strom,T.M.,
            Sturm,M., Meitinger,T., Klockgether,T., Riess,O., Klopstock,T.,
            Brandl,U., Hubner,C.A., Deschauer,M., Mayr,J.A., Bonnen,P.E.,
            Krageloh-Mann,I., Wortmann,S.B. and Haack,T.B.
  TITLE     Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging
            from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia
  JOURNAL   Am J Hum Genet 107 (2), 364-373 (2020)
   PUBMED   32707086
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL359540.19.
            
            On Sep 23, 2020 this sequence version replaced NM_032756.3.
            
            Summary: The protein encoded by this intronless gene localizes to
            mitochondria, where it may function as 4-hydroxyphenylpyruvate
            dioxygenase. Clinical studies have identified several bi-allelic
            variants in this gene that lower the level of the encoded protein
            and lead to a clinically variable form of pediatric-onset spastic
            movement disorder. [provided by RefSeq, Aug 2020].
            
            ##Evidence-Data-START##
            Transcript is intronless :: BC007293.1, AK313714.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000334815.6/ ENSP00000335060.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1816              AL359540.19        41002-42817
FEATURES             Location/Qualifiers
     source          1..1816
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.1"
     gene            1..1816
                     /gene="HPDL"
                     /gene_synonym="4-HPPD-L; GLOXD1; NEDSWMA; SPG83"
                     /note="4-hydroxyphenylpyruvate dioxygenase like"
                     /db_xref="GeneID:84842"
                     /db_xref="HGNC:HGNC:28242"
                     /db_xref="MIM:618994"
     exon            1..1816
                     /gene="HPDL"
                     /gene_synonym="4-HPPD-L; GLOXD1; NEDSWMA; SPG83"
                     /inference="alignment:Splign:2.1.0"
     CDS             255..1370
                     /gene="HPDL"
                     /gene_synonym="4-HPPD-L; GLOXD1; NEDSWMA; SPG83"
                     /EC_number="1.13.11.46"
                     /note="glyoxalase domain-containing protein 1; HPD-like
                     protein"
                     /codon_start=1
                     /product="4-hydroxyphenylpyruvate dioxygenase-like
                     protein"
                     /protein_id="NP_116145.1"
                     /db_xref="CCDS:CCDS519.1"
                     /db_xref="GeneID:84842"
                     /db_xref="HGNC:HGNC:28242"
                     /db_xref="MIM:618994"
                     /translation="MAAPALRLCHIAFHVPAGQPLARNLQRLFGFQPLASREVDGWRQ
                     LALRSGDAVFLVNEGAGSGEPLYGLDPRHAVPSATNLCFDVADAGAATRELAALGCSV
                     PVPPVRVRDAQGAATYAVVSSPAGILSLTLLERAGYRGPFLPGFRPVSSAPGPGWVSR
                     VDHLTLACTPGSSPTLLRWFHDCLGFCHLPLSPGEDPELGLEMTAGFGLGGLRLTALQ
                     AQPGSIVPTLVLAESLPGATTRQDQVEQFLARHKGPGLQHVGLYTPNIVEATEGVATA
                     GGQFLAPPGAYYQQPGKERQIRAAGHEPHLLARQGILLDGDKGKFLLQVFTKSLFTED
                     TFFLELIQRQGATGFGQGNIRALWQSVQEQSARSQEA"
     regulatory      1776..1781
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HPDL"
                     /gene_synonym="4-HPPD-L; GLOXD1; NEDSWMA; SPG83"
                     /note="hexamer: AATAAA"
     polyA_site      1816
                     /gene="HPDL"
                     /gene_synonym="4-HPPD-L; GLOXD1; NEDSWMA; SPG83"
                     /note="major polyA site"
ORIGIN      
        1 acaaccagca gctcggctca ctgagacccg gtggtccaga cgctgctcct ggctggggtg
       61 gcgctgcagg gagaaccgcg agctctcagg ggtcggcggg tgacttcttt ccggaagaaa
      121 gcgaggaacg cgctctgcgg ggtgagccgg actccccaac tccggacgat cagcccagga
      181 ctgagagccc cgaagtcccc aaccacaagt aagcggcccc agaaggacaa gtctaggtcg
      241 ccgtccagag cgccatggcc gcgcccgccc ttcgtttgtg ccacatcgcc ttccacgtgc
      301 ccgccgggca gcccctagcc cggaacctgc agcgcctctt cggcttccag cccctggctt
      361 cgcgggaggt ggacggctgg cggcagctag ccctgcgcag cggcgacgcg gtctttttgg
      421 tgaacgaggg cgcagggtct ggagagccgc tgtacggcct ggatccgcgt cacgccgtgc
      481 ccagcgccac aaacctgtgc ttcgacgtgg cggacgccgg cgctgcaacc cgggagctgg
      541 cagcgctggg ctgcagcgtg cctgtccctc ccgttcgcgt gcgggacgcg cagggtgccg
      601 ccacttacgc cgtggtcagc tcgcctgccg gcatcctcag cctgaccttg ctggagcgcg
      661 ctggctaccg cggacccttc ctacccggct tcaggcccgt gtcctctgcg cctggccccg
      721 ggtgggtcag ccgcgtggac cacctgacct tggcctgcac ccccggcagc tcccccacac
      781 ttttgcgctg gttccacgac tgcctgggct tttgccactt gccgctgagc ccaggtgagg
      841 atcccgagct gggcctcgaa atgacagcag ggtttgggct tgggggactg aggcttacag
      901 ccctgcaggc ccagccgggc agcattgtcc ccactcttgt tctggctgag tcccttccgg
      961 gggcgacgac acgacaggac caggtggagc agttcctggc ccggcacaag gggccaggcc
     1021 tgcagcacgt ggggctgtat acgcctaaca ttgtggaggc cactgagggg gtggcaactg
     1081 ctggaggcca gttcctggct ccccctgggg catactacca gcagccagga aaggagaggc
     1141 agatccgagc tgcagggcac gagcctcatc tgcttgctcg acaggggatc ctgctagatg
     1201 gtgataaagg caagtttctg cttcaggtct tcaccaagtc cctttttact gaggacactt
     1261 tcttcctgga gctgattcag aggcaggggg ccactggctt tggtcagggc aacatcagag
     1321 ctctgtggca gtccgtacag gagcaatctg ccaggagcca ggaagcctaa ggatgcccag
     1381 ggctgggtgc agccagctgt cctgcagctc tggggagacc agcacagaac tgaggaacat
     1441 ctgcaggagg cccaactagt gaaaggcttt gcctccgggg ggcaggtgtg acttccattt
     1501 catcagtgcc tgccagaagc tgtgtctctc attgggctcc aaagaggtgg gattttttaa
     1561 aactaaaaca tttcttatat acagtctata ataaatatgt aagatacaaa gaacaataaa
     1621 agaattacac actaggaaat agaacataac caatactttc gagtcctccc tgtgtcccgc
     1681 tgtgattcta tttcctccca cccactcctc aaatcctgtc attattagcc ctttgctttt
     1741 ctgtattgtt tcactccgta tgtaacataa ccctaaataa attatttcgt atttgaggta
     1801 ggaatttaaa acagaa
//
