LOCUS       NP_000351                497 aa            linear   PRI 22-OCT-2008
DEFINITION  tyrosine hydroxylase isoform b [Homo sapiens].
ACCESSION   NP_000351
VERSION     NP_000351.2  GI:88900503
DBSOURCE    REFSEQ: accession NM_000360.3
KEYWORDS    .
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   Gardner,M., Bertranpetit,J. and Comas,D.
  TITLE     Worldwide genetic variation in dopamine and serotonin pathway
            genes: implications for association studies
  JOURNAL   Am. J. Med. Genet. B Neuropsychiatr. Genet. 147B (7), 1070-1075
            (2008)
   PUBMED   18270970
  REMARK    GeneRIF: Observational study of genotype prevalence. (HuGE
            Navigator)
REFERENCE   2  (residues 1 to 497)
  AUTHORS   Wang,L., Li,B., Lu,X., Zhao,Q., Li,Y., Ge,D., Li,H., Zhang,P.,
            Chen,S., Chen,R., Qiang,B. and Gu,D.
  TITLE     A functional intronic variant in the tyrosine hydroxylase (TH) gene
            confers risk of essential hypertension in the Northern Chinese Han
            population
  JOURNAL   Clin. Sci. 115 (5), 151-158 (2008)
   PUBMED   18208403
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (residues 1 to 497)
  AUTHORS   Klintschar,M., Reichenpfader,B. and Saternus,K.S.
  TITLE     A functional polymorphism in the tyrosine hydroxylase gene
            indicates a role of noradrenalinergic signaling in sudden infant
            death syndrome
  JOURNAL   J. Pediatr. 153 (2), 190-193 (2008)
   PUBMED   18534229
  REMARK    GeneRIF: A functional polymorphism in the tyrosine hydroxylase gene
            indicates a role of noradrenalinergic signaling in sudden infant
            death syndrome
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (residues 1 to 497)
  AUTHORS   He,D.Y. and Ron,D.
  TITLE     Glial cell line-derived neurotrophic factor reverses
            ethanol-mediated increases in tyrosine hydroxylase immunoreactivity
            via altering the activity of heat shock protein 90
  JOURNAL   J. Biol. Chem. 283 (19), 12811-12818 (2008)
   PUBMED   18343820
  REMARK    GeneRIF: GDNF reverses this ethanol-mediated adaptation by
            inhibiting the interaction of tyrosine hydroxylase with HSP90
REFERENCE   5  (residues 1 to 497)
  AUTHORS   Obsilova,V., Nedbalkova,E., Silhan,J., Boura,E., Herman,P.,
            Vecer,J., Sulc,M., Teisinger,J., Dyda,F. and Obsil,T.
  TITLE     The 14-3-3 protein affects the conformation of the regulatory
            domain of human tyrosine hydroxylase
  JOURNAL   Biochemistry 47 (6), 1768-1777 (2008)
   PUBMED   18181650
  REMARK    GeneRIF: Circular dichroism measurements showed that tyrosine
            hydroxylase isoform 1 is an unstructured protein with a low content
            of secondary structure and that neither phosphorylation nor the
            14-3-3 protein binding changes its secondary structure
REFERENCE   6  (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   7  (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   8  (residues 1 to 497)
  AUTHORS   Grima,B., Lamouroux,A., Boni,C., Julien,J.F., Javoy-Agid,F. and
            Mallet,J.
  TITLE     A single human gene encoding multiple tyrosine hydroxylases with
            different predicted functional characteristics
  JOURNAL   Nature 326 (6114), 707-711 (1987)
   PUBMED   2882428
REFERENCE   9  (residues 1 to 497)
  AUTHORS   Craig,S.P., Buckle,V.J., Lamouroux,A., Mallet,J. and Craig,I.
  TITLE     Localization of the human tyrosine hydroxylase gene to 11p15: gene
            duplication and evolution of metabolic pathways
  JOURNAL   Cytogenet. Cell Genet. 42 (1-2), 29-32 (1986)
   PUBMED   2872999
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 X05290.1, BM718799.1 and
            AA447751.1.
            On Feb 28, 2006 this sequence version replaced gi:4507481.
            
            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].
            
            Transcript Variant: This variant (2) uses a different donor splice
            site at the first coding exon and is missing an adjacent in-frame
            coding exon compared to transcript variant 1, resulting in an
            isoform (b) missing a 31 aa segment compared to isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the
            Entrez Gene record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..497
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     Protein         1..497
                     /product="tyrosine hydroxylase isoform b"
                     /EC_number="1.14.16.2"
                     /note="tyrosine 3-monooxygenase"
                     /calculated_mol_wt=55481
     CDS             1..497
                     /gene="TH"
                     /gene_synonym="TYH"
                     /coded_by="NM_000360.3:20..1513"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS7730.1"
                     /db_xref="GeneID:7054"
                     /db_xref="HGNC:11782"
                     /db_xref="HPRD:01865"
                     /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
//