LOCUS       NM_000550               2896 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens tyrosinase related protein 1 (TYRP1), mRNA.
ACCESSION   NM_000550
VERSION     NM_000550.3
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 2896)
  AUTHORS   Zhang,J., Yu,R., Guo,X., Zou,Y., Chen,S., Zhou,K., Chen,Y., Li,Y.,
            Gao,S. and Wu,Y.
  TITLE     Identification of TYR, TYRP1, DCT and LARP7 as related biomarkers
            and immune infiltration characteristics of vitiligo via
            comprehensive strategies
  JOURNAL   Bioengineered 12 (1), 2214-2227 (2021)
   PUBMED   34107850
  REMARK    GeneRIF: Identification of TYR, TYRP1, DCT and LARP7 as related
            biomarkers and immune infiltration characteristics of vitiligo via
            comprehensive strategies.
REFERENCE   2  (bases 1 to 2896)
  AUTHORS   Patel,M.H., Dolinska,M.B. and Sergeev,Y.V.
  TITLE     Tyrp1 Mutant Variants Associated with OCA3: Computational
            Characterization of Protein Stability and Ligand Binding
  JOURNAL   Int J Mol Sci 22 (19), 10203 (2021)
   PUBMED   34638544
  REMARK    GeneRIF: Tyrp1 Mutant Variants Associated with OCA3: Computational
            Characterization of Protein Stability and Ligand Binding.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2896)
  AUTHORS   Jha,J., Singh,M.K., Singh,L., Pushker,N., Lomi,N., Meel,R.,
            Chosdol,K., Sen,S., Bakhshi,S. and Kashyap,S.
  TITLE     Association of TYRP1 with hypoxia and its correlation with patient
            outcome in uveal melanoma
  JOURNAL   Clin Transl Oncol 23 (9), 1874-1884 (2021)
   PUBMED   33811629
  REMARK    GeneRIF: Association of TYRP1 with hypoxia and its correlation with
            patient outcome in uveal melanoma.
REFERENCE   4  (bases 1 to 2896)
  AUTHORS   Gautron,A., Migault,M., Bachelot,L., Corre,S., Galibert,M.D. and
            Gilot,D.
  TITLE     Human TYRP1: Two functions for a single gene?
  JOURNAL   Pigment Cell Melanoma Res 34 (5), 836-852 (2021)
   PUBMED   33305505
  REMARK    GeneRIF: Human TYRP1: Two functions for a single gene?
            Review article
REFERENCE   5  (bases 1 to 2896)
  AUTHORS   Awad,S.S., Moftah,N.H., Rashed,L.A., Touni,A.A. and Telep,R.A.A.
  TITLE     Evaluation of the effect of narrow band-ultraviolet B on the
            expression of tyrosinase, TYRP-1, and TYRP-2 mRNA in vitiligo skin
            and their correlations with clinical improvement: A retrospective
            study
  JOURNAL   Dermatol Ther 34 (1), e14649 (2021)
   PUBMED   33314655
  REMARK    GeneRIF: Evaluation of the effect of narrow band-ultraviolet B on
            the expression of tyrosinase, TYRP-1, and TYRP-2 mRNA in vitiligo
            skin and their correlations with clinical improvement: A
            retrospective study.
REFERENCE   6  (bases 1 to 2896)
  AUTHORS   Thomas,M.G., Zippin,J. and Brooks,B.P.
  TITLE     Oculocutaneous Albinism and Ocular Albinism Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   37053367
REFERENCE   7  (bases 1 to 2896)
  AUTHORS   Lowings,P., Yavuzer,U. and Goding,C.R.
  TITLE     Positive and negative elements regulate a melanocyte-specific
            promoter
  JOURNAL   Mol Cell Biol 12 (8), 3653-3662 (1992)
   PUBMED   1321344
REFERENCE   8  (bases 1 to 2896)
  AUTHORS   Murty,V.V., Bouchard,B., Mathew,S., Vijayasaradhi,S. and
            Houghton,A.N.
  TITLE     Assignment of the human TYRP (brown) locus to chromosome region
            9p23 by nonradioactive in situ hybridization
  JOURNAL   Genomics 13 (1), 227-229 (1992)
   PUBMED   1577487
REFERENCE   9  (bases 1 to 2896)
  AUTHORS   Shibata,K., Takeda,K., Tomita,Y., Tagami,H. and Shibahara,S.
  TITLE     Downstream region of the human tyrosinase-related protein gene
            enhances its promoter activity
  JOURNAL   Biochem Biophys Res Commun 184 (2), 568-575 (1992)
   PUBMED   1575733
REFERENCE   10 (bases 1 to 2896)
  AUTHORS   Colman,M.A., Shibahara,S., Kwon,B., Jenkins,T. and Ramsay,M.
  TITLE     A two allele XbaI RFLP at the catalase 2 locus
  JOURNAL   Nucleic Acids Res 19 (4), 960 (1991)
   PUBMED   1673236
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL138753.8, DA278582.1,
            X51420.1, BC052608.1, CD679533.1 and AL600654.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_000550.2.
            
            Summary: This gene encodes a melanosomal enzyme that belongs to the
            tyrosinase family and plays an important role in the melanin
            biosynthetic pathway. Defects in this gene are the cause of rufous
            oculocutaneous albinism and oculocutaneous albinism type III.
            [provided by RefSeq, Mar 2009].
            
            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 :: SRR1803612.212190.1, X51420.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000388918.10/ ENSP00000373570.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 AL138753.8         71444-71444
            2-50                DA278582.1         1-49
            51-1754             X51420.1           1-1704
            1755-1915           BC052608.1         1673-1833
            1916-2090           X51420.1           1870-2044
            2091-2216           CD679533.1         436-561
            2217-2809           X51420.1           2167-2759
            2810-2869           X51420.1           2761-2820
            2870-2875           AL600654.1         14-19
            2876-2877           AL600654.1         23-24
            2878-2896           AL138753.8         88326-88344
FEATURES             Location/Qualifiers
     source          1..2896
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p23"
     gene            1..2896
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
                     /note="tyrosinase related protein 1"
                     /db_xref="GeneID:7306"
                     /db_xref="HGNC:HGNC:12450"
                     /db_xref="MIM:115501"
     exon            1..94
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
                     /inference="alignment:Splign:2.1.0"
     exon            95..564
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
                     /inference="alignment:Splign:2.1.0"
     CDS             180..1793
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
                     /EC_number="1.14.18.-"
                     /note="5,6-dihydroxyindole-2-carboxylic acid oxidase;
                     catalase B; DHICA oxidase; glycoprotein 75; melanoma
                     antigen gp75"
                     /codon_start=1
                     /product="5,6-dihydroxyindole-2-carboxylic acid oxidase
                     precursor"
                     /protein_id="NP_000541.1"
                     /db_xref="CCDS:CCDS34990.1"
                     /db_xref="GeneID:7306"
                     /db_xref="HGNC:HGNC:12450"
                     /db_xref="MIM:115501"
                     /translation="MSAPKLLSLGCIFFPLLLFQQARAQFPRQCATVEALRSGMCCPD
                     LSPVSGPGTDRCGSSSGRGRCEAVTADSRPHSPQYPHDGRDDREVWPLRFFNRTCHCN
                     GNFSGHNCGTCRPGWRGAACDQRVLIVRRNLLDLSKEEKNHFVRALDMAKRTTHPLFV
                     IATRRSEEILGPDGNTPQFENISIYNYFVWTHYYSVKKTFLGVGQESFGEVDFSHEGP
                     AFLTWHRYHLLRLEKDMQEMLQEPSFSLPYWNFATGKNVCDICTDDLMGSRSNFDSTL
                     ISPNSVFSQWRVVCDSLEDYDTLGTLCNSTEDGPIRRNPAGNVARPMVQRLPEPQDVA
                     QCLEVGLFDTPPFYSNSTNSFRNTVEGYSDPTGKYDPAVRSLHNLAHLFLNGTGGQTH
                     LSPNDPIFVLLHTFTDAVFDEWLRRYNADISTFPLENAPIGHNRQYNMVPFWPPVTNT
                     EMFVTAPDNLGYTYEIQWPSREFSVPEIIAIAVVGALLLVALIFGTASYLIRARRSMD
                     EANQPLLTDQYQCYAEEYEKLQNPNQSVV"
     exon            565..887
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
                     /inference="alignment:Splign:2.1.0"
     exon            888..1092
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1093..1260
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1261..1440
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1441..1587
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1588..2896
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2681..2686
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
                     /note="hexamer: AGTAAA"
     polyA_site      2700
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
                     /note="major polyA site"
     regulatory      2849..2854
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
                     /note="hexamer: ATTAAA"
     polyA_site      2869
                     /gene="TYRP1"
                     /gene_synonym="b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP;
                     TRP1; TYRP"
ORIGIN      
        1 aacagttctg acgtgagagg acaagaaaca caagcaaata taaaacattc aattctaaga
       61 gaagttcatc agagacatcc ttcaggattg tgagctggat tttcctctac gtgcttcagt
      121 cttctctaca caaagagctg caaaccaggt ctttgttttg cactcttatt tcaagcagaa
      181 tgagtgctcc taaactcctc tctctgggct gtatcttctt ccccttgcta ctttttcagc
      241 aggcccgggc tcaattccca agacagtgtg ccactgttga ggctttgaga agtggtatgt
      301 gttgcccaga cctgtcccct gtgtctgggc ctgggacaga ccgctgtggc tcatcatcag
      361 ggaggggcag atgtgaggca gtgactgcag actcccggcc ccacagccct cagtatcccc
      421 atgatggcag agatgatcgg gaggtctggc ccttgcgctt cttcaatagg acatgtcact
      481 gcaacggcaa tttctcagga cacaactgtg ggacgtgccg tcctggctgg agaggagctg
      541 cctgtgacca gagggttctc atagtcagga gaaatcttct ggacttaagt aaagaagaaa
      601 agaaccactt tgtccgggcc ctggatatgg caaagcgcac aactcaccct ttatttgtca
      661 ttgccaccag gagatcagaa gaaatactgg ggccagatgg caacacgcca caatttgaga
      721 acatttccat ttataactac tttgtttgga cacactatta ctcagtcaaa aagactttcc
      781 ttggggtagg acaggaaagc tttggtgaag tggatttctc tcatgaggga ccagcttttc
      841 tcacatggca caggtaccac ctcctgcgtc tggagaaaga catgcaggaa atgttgcaag
      901 agccttcttt ctcccttcct tactggaatt ttgcaacggg gaaaaatgtc tgtgatatct
      961 gcacggatga cttgatggga tccagaagca actttgattc cactctaata agcccaaact
     1021 ctgtcttttc tcaatggcga gtggtctgtg actccttgga agattatgat accctgggaa
     1081 cactttgtaa cagcaccgag gatgggccaa ttaggagaaa tccagctgga aatgtggcca
     1141 gaccaatggt gcaacgtctt cctgaaccac aggatgtcgc tcagtgcttg gaagttggtt
     1201 tatttgacac gcctcctttt tattccaact ctacaaacag tttccgaaac acagtggaag
     1261 gttacagtga ccccacggga aagtatgacc ctgctgttcg aagtcttcac aatttggctc
     1321 atctattcct gaatggaaca gggggacaaa cccatttgtc tccaaatgat cctatttttg
     1381 tcctcctgca caccttcaca gatgcagtct ttgatgaatg gctgaggaga tacaatgctg
     1441 atatatccac atttccattg gaaaatgccc ctattggaca taatagacaa tacaacatgg
     1501 tgccattctg gcccccagtc accaacacag aaatgtttgt tactgctcca gacaacctgg
     1561 gatacactta tgaaattcaa tggccaagtc gggagtttag tgtacctgag ataattgcca
     1621 tagcagtagt tggcgctttg ttactggttg cactcatttt tgggactgct tcttatctga
     1681 ttcgtgccag acgcagtatg gatgaagcta accagcctct cctcactgat cagtatcaat
     1741 gctatgctga agaatatgaa aaactccaga atcctaatca gtctgtggtc taacaaatgc
     1801 cctactctct tatgcattag tatcacaaaa ccacctggtt gaatataata gattgagtta
     1861 ttaactgtat tttctttcac tttattacct tctttctaat acaagcatat gttagcatta
     1921 aagttctagg catacttttc aaagctggga agaccctttc agaatctttt caatgggttt
     1981 taattttcag ttctatttaa aatggtgaat gacactaaac tccatgatat ttaaggatag
     2041 tgtgaagatc tttggcatga tttaaaggtt gagtatgtga agatataagt aagtgaacta
     2101 ccatgctttg tttacgtgta aaggaaaata atgtttgata gtaaatgtcc acttaaaata
     2161 catgaatggg catttctaaa atgttaaaac ataaacacat ttccattcat ggatatttgt
     2221 caacagattt aaagaaaacc acagttatta attaaagaaa attaattatg tgtagttata
     2281 aaccaatgaa attttgatta accttttcaa attaatgttc cagtttgaag accaatcaaa
     2341 tatattattt agtcaacata tactatttag tctcaggttc aaggctacaa caaaaatcac
     2401 catctttgtc aaactttgga gagggaaaat cttcactttc ttaagcaaca atggatattg
     2461 cctgtgtttg ccactgtgtt tccctgcctc tcaattcgct gaaaaaggaa ctacctatcc
     2521 ttacatttca cctactaatg tctcttctaa catcttagag gtccatggag aaggcatatg
     2581 gagaacatgt tttatactgc tctataaata gtattccaat cactgtgctt aatttaaata
     2641 gcattatctt atcatttatc agccttttat gtattttcca agtaaaatat taacatatta
     2701 tttcattggt cttctttttt atctggttct atatgaatgc tattttttcc cttctcttct
     2761 aacatgaaat atattttctc tttttgatct tgtgctatga aacaatcttc caaagaactg
     2821 tataaggtgg tcataagtga atattttaat taaaattggt aaaaataaat aataacagta
     2881 ataatcatgc actata
//
