LOCUS       NP_000351                497 aa            linear   PRI 21-MAY-2025
DEFINITION  tyrosine 3-monooxygenase isoform b [Homo sapiens].
ACCESSION   NP_000351
VERSION     NP_000351.2
DBSOURCE    REFSEQ: accession NM_000360.4
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  (residues 1 to 497)
  AUTHORS   Jung-Klawitter,S., Richter,P., Yuan,Y., Welzel,K., Kube,M.,
            Bahr,S., Leibner,A., Flory,E. and Opladen,T.
  TITLE     Tyrosine hydroxylase variants influence protein expression,
            cellular localization, stability, enzymatic activity and the
            physical interaction between tyrosine hydroxylase and GTP
            cyclohydrolase 1
  JOURNAL   J Inherit Metab Dis 47 (3), 517-532 (2024)
   PUBMED   38084654
  REMARK    GeneRIF: Tyrosine hydroxylase variants influence protein
            expression, cellular localization, stability, enzymatic activity
            and the physical interaction between tyrosine hydroxylase and GTP
            cyclohydrolase 1.
REFERENCE   2  (residues 1 to 497)
  AUTHORS   Berumen,J., Orozco,L., Gallardo-Rincon,H., Juarez-Torres,E.,
            Barrera,E., Cruz-Lopez,M., Benuto,R.E., Ramos-Martinez,E.,
            Marin-Madina,M., Alvarado-Silva,A., Valladares-Salgado,A.,
            Peralta-Romero,J.J., Garcia-Ortiz,H., Martinez-Juarez,L.A.,
            Montoya,A., Alvarez-Hernandez,D.A., Alegre-Diaz,J., Kuri-Morales,P.
            and Tapia-Conyer,R.
  TITLE     Association of tyrosine hydroxylase 01 (TH01) microsatellite and
            insulin gene (INS) variable number of tandem repeat (VNTR) with
            type 2 diabetes and fasting insulin secretion in Mexican population
  JOURNAL   J Endocrinol Invest 47 (3), 571-583 (2024)
   PUBMED   37624484
  REMARK    GeneRIF: Association of tyrosine hydroxylase 01 (TH01)
            microsatellite and insulin gene (INS) variable number of tandem
            repeat (VNTR) with type 2 diabetes and fasting insulin secretion in
            Mexican population.
REFERENCE   3  (residues 1 to 497)
  AUTHORS   Zhang,H., Zhang,B., Zhao,B., Zhang,T.X., Zhao,C.P., Liu,Y.M.,
            Yan,C.Z. and Zhao,Y.Y.
  TITLE     [Clinical and genetic analysis of tyrosine hydroxylase deficiency
            of six cases]
  JOURNAL   Zhonghua Yi Xue Za Zhi 103 (39), 3140-3143 (2023)
   PUBMED   37840187
  REMARK    GeneRIF: [Clinical and genetic analysis of tyrosine hydroxylase
            deficiency of six cases].
REFERENCE   4  (residues 1 to 497)
  AUTHORS   Zhang,G.Y., Cai,Z.J., Zhang,X.L., Yang,L., Li,Y.Z., Wei,L.K.,
            Zhang,Y.P., Chang,P.P. and Zhu,D.N.
  TITLE     [Clinical and genetic characteristics of children with
            dopa-responsive dystonia caused by tyrosine hydroxylase gene
            variations]
  JOURNAL   Zhonghua Er Ke Za Zhi 61 (4), 339-344 (2023)
   PUBMED   37011980
  REMARK    GeneRIF: [Clinical and genetic characteristics of children with
            dopa-responsive dystonia caused by tyrosine hydroxylase gene
            variations].
REFERENCE   5  (residues 1 to 497)
  AUTHORS   Furukawa,Y. and Kish,S.
  TITLE     Tyrosine Hydroxylase Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301610
REFERENCE   6  (residues 1 to 497)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
REFERENCE   7  (residues 1 to 497)
  AUTHORS   Haycock,J.W., Ahn,N.G., Cobb,M.H. and Krebs,E.G.
  TITLE     ERK1 and ERK2, two microtubule-associated protein 2 kinases,
            mediate the phosphorylation of tyrosine hydroxylase at serine-31 in
            situ
  JOURNAL   Proc Natl Acad Sci U S A 89 (6), 2365-2369 (1992)
   PUBMED   1347949
REFERENCE   8  (residues 1 to 497)
  AUTHORS   Le Bourdelles,B., Horellou,P., Le Caer,J.P., Denefle,P., Latta,M.,
            Haavik,J., Guibert,B., Mayaux,J.F. and Mallet,J.
  TITLE     Phosphorylation of human recombinant tyrosine hydroxylase isoforms
            1 and 2: an additional phosphorylated residue in isoform 2,
            generated through alternative splicing
  JOURNAL   J Biol Chem 266 (26), 17124-17130 (1991)
   PUBMED   1680128
REFERENCE   9  (residues 1 to 497)
  AUTHORS   Haycock,J.W.
  TITLE     Phosphorylation of tyrosine hydroxylase in situ at serine 8, 19,
            31, and 40
  JOURNAL   J Biol Chem 265 (20), 11682-11691 (1990)
   PUBMED   1973163
REFERENCE   10 (residues 1 to 497)
  AUTHORS   Joh,T.H., Park,D.H. and Reis,D.J.
  TITLE     Direct phosphorylation of brain tyrosine hydroxylase by cyclic
            AMP-dependent protein kinase: mechanism of enzyme activation
  JOURNAL   Proc Natl Acad Sci U S A 75 (10), 4744-4748 (1978)
   PUBMED   33381
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC132217.15, X05290.1,
            BM718799.1 and AA447751.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 28, 2006 this sequence version replaced NP_000351.1.
            
            Summary: The protein encoded by this gene is involved in the
            conversion of tyrosine to dopamine. It is the rate-limiting enzyme
            in the synthesis of catecholamines, hence plays a key role in the
            physiology of adrenergic neurons. Mutations in this gene have been
            associated with autosomal recessive Segawa syndrome. Alternatively
            spliced transcript variants encoding different isoforms have been
            noted for this gene. [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 :: X05290.1, BC143611.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000352909.8/ ENSP00000325951.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..497
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     Protein         1..497
                     /product="tyrosine 3-monooxygenase isoform b"
                     /EC_number="1.14.16.2"
                     /note="tyrosine 3-monooxygenase; dystonia 14; tyrosine
                     3-hydroxylase"
                     /calculated_mol_wt=55481
     Region          2..26
                     /region_name="TOH_N"
                     /note="Tyrosine hydroxylase N terminal; pfam12549"
                     /db_xref="CDD:403668"
     Region          38..159
                     /region_name="ACT_TH"
                     /note="ACT domain of the nonheme iron-dependent aromatic
                     amino acid hydroxylase, tyrosine hydroxylases (TH);
                     cd04930"
                     /db_xref="CDD:153202"
     Site            order(94..97,114..117)
                     /site_type="other"
                     /note="putative amino acid binding site [chemical
                     binding]"
                     /db_xref="CDD:153202"
     Region          164..494
                     /region_name="Biopterin_H"
                     /note="Biopterin-dependent aromatic amino acid
                     hydroxylase; pfam00351"
                     /db_xref="CDD:459776"
     CDS             1..497
                     /gene="TH"
                     /gene_synonym="DYT14; DYT5b; TYH"
                     /coded_by="NM_000360.4:30..1523"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS7730.1"
                     /db_xref="GeneID:7054"
                     /db_xref="HGNC:HGNC:11782"
                     /db_xref="MIM:191290"
ORIGIN      
        1 mptpdattpq akgfrravse ldakqaeaim sprfigrrqs liedarkere aavaaaaaav
       61 psepgdplea vafeekegka vlnllfspra tkpsalsrav kvfetfeaki hhletrpaqr
      121 praggphley fvrlevrrgd laallsgvrq vsedvrspag pkvpwfprkv seldkchhlv
      181 tkfdpdldld hpgfsdqvyr qrrkliaeia fqyrhgdpip rveytaeeia twkevyttlk
      241 glyathacge hleafaller fsgyrednip qledvsrflk ertgfqlrpv agllsardfl
      301 aslafrvfqc tqyirhassp mhspepdcch ellghvpmla drtfaqfsqd iglaslgasd
      361 eeieklstly wftvefglck qngevkayga gllssygell hclseepeir afdpeaaavq
      421 pyqdqtyqsv yfvsesfsda kdklrsyasr iqrpfsvkfd pytlaidvld spqavrrsle
      481 gvqdeldtla halsaig
//
