LOCUS       NM_033068               1342 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens acid phosphatase 4 (ACP4), mRNA.
ACCESSION   NM_033068
VERSION     NM_033068.3
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 1342)
  AUTHORS   Liang,T., Wang,S.K., Smith,C., Zhang,H., Hu,Y., Seymen,F.,
            Koruyucu,M., Kasimoglu,Y., Kim,J.W., Zhang,C., Saunders,T.L.,
            Simmer,J.P. and Hu,J.C.
  TITLE     Enamel defects in Acp4R110C/R110C mice and human ACP4 mutations
  JOURNAL   Sci Rep 12 (1), 16477 (2022)
   PUBMED   36183038
  REMARK    GeneRIF: Enamel defects in Acp4(R110C/R110C) mice and human ACP4
            mutations.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1342)
  AUTHORS   Kim,Y.J., Lee,Y., Kasimoglu,Y., Seymen,F., Simmer,J.P., Hu,J.C.,
            Cho,E.S. and Kim,J.W.
  TITLE     Recessive Mutations in ACP4 Cause Amelogenesis Imperfecta
  JOURNAL   J Dent Res 101 (1), 37-45 (2022)
   PUBMED   34036831
  REMARK    GeneRIF: Recessive Mutations in ACP4 Cause Amelogenesis Imperfecta.
REFERENCE   3  (bases 1 to 1342)
  AUTHORS   Smith,C.E., Whitehouse,L.L., Poulter,J.A., Brookes,S.J., Day,P.F.,
            Soldani,F., Kirkham,J., Inglehearn,C.F. and Mighell,A.J.
  TITLE     Defects in the acid phosphatase ACPT cause recessive hypoplastic
            amelogenesis imperfecta
  JOURNAL   Eur J Hum Genet 25 (8), 1015-1019 (2017)
   PUBMED   28513613
  REMARK    GeneRIF: ACPT missense mutation segregates with hypoplastic
            amelogenesis imperfecta in two unrelated families.
REFERENCE   4  (bases 1 to 1342)
  AUTHORS   Seymen,F., Kim,Y.J., Lee,Y.J., Kang,J., Kim,T.H., Choi,H.,
            Koruyucu,M., Kasimoglu,Y., Tuna,E.B., Gencay,K., Shin,T.J.,
            Hyun,H.K., Kim,Y.J., Lee,S.H., Lee,Z.H., Zhang,H., Hu,J.C.,
            Simmer,J.P., Cho,E.S. and Kim,J.W.
  TITLE     Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase,
            Cause Hypoplastic Amelogenesis Imperfecta
  JOURNAL   Am J Hum Genet 99 (5), 1199-1205 (2016)
   PUBMED   27843125
  REMARK    GeneRIF: ACPT biallelic mutations caused non-syndromic, generalized
            hypoplastic autosomal-recessive amelogenesis imperfecta in
            individuals from six unrelated Turkish families. Analysis of the
            ACPT crystal structure suggests that these mutations damaged the
            activity of ACPT by altering the sizes and charges of key amino
            acid side chains, limiting accessibility of the catalytic core, and
            interfering with homodimerization.
REFERENCE   5  (bases 1 to 1342)
  AUTHORS   Fleisig,H., El-Din El-Husseini,A. and Vincent,S.R.
  TITLE     Regulation of ErbB4 phosphorylation and cleavage by a novel
            histidine acid phosphatase
  JOURNAL   Neuroscience 127 (1), 91-100 (2004)
   PUBMED   15219672
REFERENCE   6  (bases 1 to 1342)
  AUTHORS   Yousef,G.M., Diamandis,M., Jung,K. and Diamandis,E.P.
  TITLE     Molecular cloning of a novel human acid phosphatase gene (ACPT)
            that is highly expressed in the testis
  JOURNAL   Genomics 74 (3), 385-395 (2001)
   PUBMED   11414767
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010325.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_033068.2.
            
            Summary: Acid phosphatases are enzymes capable of hydrolyzing
            orthophosphoric acid esters in an acid medium. This gene is
            up-regulated by androgens and is down-regulated by estrogens in the
            prostate cancer cell line. This gene exhibits a lower level of
            expression in testicular cancer tissues than in normal tissues. The
            protein encoded by this gene has structural similarity to prostatic
            and lysosomal acid phosphatases. Alternatively spliced transcript
            variants have been described, but their biological validity has not
            been determined. [provided by RefSeq, Jul 2008].
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000270593.2/ ENSP00000270593.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-111               AC010325.7         123080-123190
            112-216             AC010325.7         123259-123363
            217-303             AC010325.7         123439-123525
            304-450             AC010325.7         124321-124467
            451-549             AC010325.7         124738-124836
            550-645             AC010325.7         124907-125002
            646-778             AC010325.7         126349-126481
            779-861             AC010325.7         126553-126635
            862-986             AC010325.7         127122-127246
            987-1165            AC010325.7         127451-127629
            1166-1342           AC010325.7         127708-127884
FEATURES             Location/Qualifiers
     source          1..1342
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     gene            1..1342
                     /gene="ACP4"
                     /gene_synonym="ACPT; AI1J"
                     /note="acid phosphatase 4"
                     /db_xref="GeneID:93650"
                     /db_xref="HGNC:HGNC:14376"
                     /db_xref="MIM:606362"
     CDS             1..1281
                     /gene="ACP4"
                     /gene_synonym="ACPT; AI1J"
                     /EC_number="3.1.3.2"
                     /note="testicular acid phosphatase; acid phosphatase,
                     testicular"
                     /codon_start=1
                     /product="testicular acid phosphatase precursor"
                     /protein_id="NP_149059.1"
                     /db_xref="CCDS:CCDS12802.1"
                     /db_xref="GeneID:93650"
                     /db_xref="HGNC:HGNC:14376"
                     /db_xref="MIM:606362"
                     /translation="MAGLGFWGHPAGPLLLLLLLVLPPRALPEGPLVFVALVFRHGDR
                     APLASYPMDPHKEVASTLWPRGLGQLTTEGVRQQLELGRFLRSRYEAFLSPEYRREEV
                     YIRSTDFDRTLESAQANLAGLFPEAAPGSPEARWRPIPVHTVPVAEDKLLRFPMRSCP
                     RYHELLREATEAAEYQEALEGWTGFLSRLENFTGLSLVGEPLRRAWKVLDTLMCQQAH
                     GLPLPAWASPDVLRTLAQISALDIGAHVGPPRAAEKAQLTGGILLNAILANFSRVQRL
                     GLPLKMVMYSAHDSTLLALQGALGLYDGHTPPYAACLGFEFRKHLGNPAKDGGNVTVS
                     LFYRNDSAHLPLPLSLPGCPAPCPLGRFYQLTAPARPPAHGVSCHGPYEAAIPPAPVV
                     PLLAGAVAVLVALSLGLGLLAWRPGCLRALGGPV"
     exon            1..111
                     /gene="ACP4"
                     /gene_synonym="ACPT; AI1J"
                     /inference="alignment:Splign:2.1.0"
     exon            112..216
                     /gene="ACP4"
                     /gene_synonym="ACPT; AI1J"
                     /inference="alignment:Splign:2.1.0"
     exon            217..303
                     /gene="ACP4"
                     /gene_synonym="ACPT; AI1J"
                     /inference="alignment:Splign:2.1.0"
     exon            304..450
                     /gene="ACP4"
                     /gene_synonym="ACPT; AI1J"
                     /inference="alignment:Splign:2.1.0"
     exon            451..549
                     /gene="ACP4"
                     /gene_synonym="ACPT; AI1J"
                     /inference="alignment:Splign:2.1.0"
     exon            550..645
                     /gene="ACP4"
                     /gene_synonym="ACPT; AI1J"
                     /inference="alignment:Splign:2.1.0"
     exon            646..778
                     /gene="ACP4"
                     /gene_synonym="ACPT; AI1J"
                     /inference="alignment:Splign:2.1.0"
     exon            779..861
                     /gene="ACP4"
                     /gene_synonym="ACPT; AI1J"
                     /inference="alignment:Splign:2.1.0"
     exon            862..986
                     /gene="ACP4"
                     /gene_synonym="ACPT; AI1J"
                     /inference="alignment:Splign:2.1.0"
     exon            987..1165
                     /gene="ACP4"
                     /gene_synonym="ACPT; AI1J"
                     /inference="alignment:Splign:2.1.0"
     exon            1166..1342
                     /gene="ACP4"
                     /gene_synonym="ACPT; AI1J"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 atggccggcc tggggttttg gggccaccct gctggacctc tcctgctgct gctgctgctg
       61 gtgctgccac cccgggccct gccagaagga cccctggtgt tcgtggctct ggtattccgc
      121 catggcgacc gggccccgct ggcctcctac cccatggacc cacacaagga ggtggcctcc
      181 accctgtggc cacgaggcct gggccagctg accacggagg gggtccgcca gcagctggag
      241 ctgggccgct tcctgaggag ccgctacgag gccttcctga gtccggagta ccggcgggag
      301 gaggtgtaca tccgcagcac ggactttgac cgcacgctgg agagtgccca ggccaacctt
      361 gccgggctgt ttcccgaggc tgctccaggg agccccgagg cccgctggag gccgatcccg
      421 gtgcacacgg tgcccgtggc tgaggataag ctgctgaggt tccccatgcg cagctgtccc
      481 cgataccacg agctgctgcg ggaggccacc gaggccgccg agtaccagga ggccctggag
      541 ggctggacgg gcttcctgag tcgcctggag aacttcacgg gactgtcgct ggttggagag
      601 ccactgcgca gggcatggaa ggttctggac accctcatgt gccagcaagc ccacggtctt
      661 ccactaccag cctgggcctc cccagatgtc ctgcggactc ttgcccagat ctcggctttg
      721 gatattggag cccacgtggg cccaccccgg gcagcagaga aggcccagct gacagggggg
      781 atcctgctga atgctatcct tgcaaacttc tcccgggtcc agcgcctggg gctgcccctc
      841 aagatggtca tgtactcagc tcatgacagc accctgctgg ccctccaggg ggccctgggc
      901 ctctatgatg gacacacccc gccatatgct gcctgcctcg gctttgagtt ccggaagcac
      961 ctggggaatc ccgccaaaga tggagggaat gtcaccgtct ccctcttcta ccgcaatgac
     1021 tccgcccacc tgcccctgcc tctcagcctc cccgggtgcc cggccccctg tccactaggc
     1081 cgcttctacc agctgactgc cccggcccgg cctcccgccc atggggtctc ctgccatggc
     1141 ccctatgagg ctgccatccc cccagctcca gtggtgcccc tgctggccgg agctgtagct
     1201 gtgctggtgg cactcagctt ggggctgggc ctgctggcct ggagaccagg gtgcctgcgg
     1261 gccttggggg gccccgtgtg agccagaaac cagggcttcc ctacccccag ctgacactgg
     1321 accccaacat gtatgctcag ta
//
