LOCUS       NM_001611               1381 bp    mRNA    linear   PRI 09-JUL-2024
DEFINITION  Homo sapiens acid phosphatase 5, tartrate resistant (ACP5),
            transcript variant 4, mRNA.
ACCESSION   NM_001611
VERSION     NM_001611.5
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 1381)
  AUTHORS   Yang,S., Pei,L., Huang,Z., Zhong,Y., Li,J., Hong,Y., Long,H.,
            Chen,X., Zhou,C., Zheng,G., Zeng,C., Wu,H. and Wang,T.
  TITLE     Inhibition of tartrate-resistant acid phosphatase 5 can prevent
            cardiac fibrosis after myocardial infarction
  JOURNAL   Mol Med 30 (1), 89 (2024)
   PUBMED   38879488
  REMARK    GeneRIF: Inhibition of tartrate-resistant acid phosphatase 5 can
            prevent cardiac fibrosis after myocardial infarction.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1381)
  AUTHORS   Dri,J., Dos Santos,E., Pereyra,M., Guillamondegui,M.J.,
            Ballester,C., Tolin,A. and Gatica,C.
  TITLE     Spondyloenchondrodysplasia with immune dysregulation related to
            ACP5. A report of 4 cases
  JOURNAL   Arch Argent Pediatr 122 (1), e202303031 (2024)
   PUBMED   37382551
  REMARK    GeneRIF: Spondyloenchondrodysplasia with immune dysregulation
            related to ACP5. A report of 4 cases.
REFERENCE   3  (bases 1 to 1381)
  AUTHORS   Matsuzaki,K., Hossain,S., Wakatsuki,H., Tanabe,Y., Ohno,M.,
            Kato,S., Shido,O. and Hashimoto,M.
  TITLE     Perilla seed oil improves bone health by inhibiting bone resorption
            in healthy Japanese adults: A 12-month, randomized, double-blind,
            placebo-controlled trial
  JOURNAL   Phytother Res 37 (6), 2230-2241 (2023)
   PUBMED   36637040
  REMARK    GeneRIF: Perilla seed oil improves bone health by inhibiting bone
            resorption in healthy Japanese adults: A 12-month, randomized,
            double-blind, placebo-controlled trial.
REFERENCE   4  (bases 1 to 1381)
  AUTHORS   Elhossini,R.M., Elbendary,H.M., Rafat,K., Ghorab,R.M. and
            Abdel-Hamid,M.S.
  TITLE     Spondyloenchondrodysplasia in five new patients: identification of
            three novel ACP5 variants with variable neurological presentations
  JOURNAL   Mol Genet Genomics 298 (3), 709-720 (2023)
   PUBMED   37010587
  REMARK    GeneRIF: Spondyloenchondrodysplasia in five new patients:
            identification of three novel ACP5 variants with variable
            neurological presentations.
REFERENCE   5  (bases 1 to 1381)
  AUTHORS   Gossiel,F., Ugur,A., Peel,N.F.A., Walsh,J.S. and Eastell,R.
  TITLE     The clinical utility of TRACP-5b to monitor anti-resorptive
            treatments of osteoporosis
  JOURNAL   Osteoporos Int 33 (6), 1357-1363 (2022)
   PUBMED   35102444
  REMARK    GeneRIF: The clinical utility of TRACP-5b to monitor
            anti-resorptive treatments of osteoporosis.
REFERENCE   6  (bases 1 to 1381)
  AUTHORS   Hayman,A.R., Dryden,A.J., Chambers,T.J. and Warburton,M.J.
  TITLE     Tartrate-resistant acid phosphatase from human osteoclastomas is
            translated as a single polypeptide
  JOURNAL   Biochem J 277 (Pt 3) (Pt 3), 631-634 (1991)
   PUBMED   1872798
REFERENCE   7  (bases 1 to 1381)
  AUTHORS   Lord,D.K., Cross,N.C., Bevilacqua,M.A., Rider,S.H., Gorman,P.A.,
            Groves,A.V., Moss,D.W., Sheer,D. and Cox,T.M.
  TITLE     Type 5 acid phosphatase. Sequence, expression and chromosomal
            localization of a differentiation-associated protein of the human
            macrophage
  JOURNAL   Eur J Biochem 189 (2), 287-293 (1990)
   PUBMED   2338077
  REMARK    Erratum:[Eur J Biochem 1990 Aug 17;191(3):775]
REFERENCE   8  (bases 1 to 1381)
  AUTHORS   Stepan,J.J., Lau,K.H., Mohan,S., Singer,F.R. and Baylink,D.J.
  TITLE     Purification and N-terminal amino acid sequence of the
            tartrate-resistant acid phosphatase from human osteoclastoma:
            evidence for a single structure
  JOURNAL   Biochem Biophys Res Commun 168 (2), 792-800 (1990)
   PUBMED   2334436
REFERENCE   9  (bases 1 to 1381)
  AUTHORS   Stepan,J.J., Lau,K.H., Mohan,S., Kraenzlin,M. and Baylink,D.J.
  TITLE     Purification and N-terminal sequence of two tartrate-resistant acid
            phosphatases type-5 from the hairy cell leukemia spleen
  JOURNAL   Biochem Biophys Res Commun 165 (3), 1027-1034 (1989)
   PUBMED   2610679
REFERENCE   10 (bases 1 to 1381)
  AUTHORS   Allen,B.S., Ketcham,C.M., Roberts,R.M., Nick,H.S. and Ostrer,H.
  TITLE     Localization of the human type 5, tartrate-resistant acid
            phosphatase gene by in situ hybridization
  JOURNAL   Genomics 4 (4), 597-600 (1989)
   PUBMED   2473026
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK290717.1 and BC025414.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 25, 2018 this sequence version replaced NM_001611.4.
            
            Summary: This gene encodes an iron containing glycoprotein which
            catalyzes the conversion of orthophosphoric monoester to alcohol
            and orthophosphate. It is the most basic of the acid phosphatases
            and is the only form not inhibited by L(+)-tartrate. [provided by
            RefSeq, Aug 2008].
            
            Transcript Variant: This variant (4) differs in the 5' UTR compared
            to variant 1. Variants 1-5 encode the same protein.
            
            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 :: BC025414.2, SRR3476690.861383.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000648477.1/ ENSP00000496973.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1301              AK290717.1         62-1362
            1302-1381           BC025414.2         1336-1415
FEATURES             Location/Qualifiers
     source          1..1381
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..1381
                     /gene="ACP5"
                     /gene_synonym="HPAP; TRAcP; TRACP5a; TRACP5b; TRAP;
                     TrATPase"
                     /note="acid phosphatase 5, tartrate resistant"
                     /db_xref="GeneID:54"
                     /db_xref="HGNC:HGNC:124"
                     /db_xref="MIM:171640"
     exon            1..53
                     /gene="ACP5"
                     /gene_synonym="HPAP; TRAcP; TRACP5a; TRACP5b; TRAP;
                     TrATPase"
                     /inference="alignment:Splign:2.1.0"
     CDS             54..1031
                     /gene="ACP5"
                     /gene_synonym="HPAP; TRAcP; TRACP5a; TRACP5b; TRAP;
                     TrATPase"
                     /EC_number="3.1.3.2"
                     /note="tartrate-resistant acid phosphatase type 5;
                     tartrate-resistant acid ATPase; human purple acid
                     phosphatase; tartrate-resistant acid phosphatase 5a;
                     tartrate-resistant acid phosphatase 5b"
                     /codon_start=1
                     /product="tartrate-resistant acid phosphatase type 5
                     precursor"
                     /protein_id="NP_001602.1"
                     /db_xref="CCDS:CCDS12265.1"
                     /db_xref="GeneID:54"
                     /db_xref="HGNC:HGNC:124"
                     /db_xref="MIM:171640"
                     /translation="MDMWTALLILQALLLPSLADGATPALRFVAVGDWGGVPNAPFHT
                     AREMANAKEIARTVQILGADFILSLGDNFYFTGVQDINDKRFQETFEDVFSDRSLRKV
                     PWYVLAGNHDHLGNVSAQIAYSKISKRWNFPSPFYRLHFKIPQTNVSVAIFMLDTVTL
                     CGNSDDFLSQQPERPRDVKLARTQLSWLKKQLAAAREDYVLVAGHYPVWSIAEHGPTH
                     CLVKQLRPLLATYGVTAYLCGHDHNLQYLQDENGVGYVLSGAGNFMDPSKRHQRKVPN
                     GYLRFHYGTEDSLGGFAYVEISSKEMTVTYIEASGKSLFKTRLPRRARP"
     exon            54..314
                     /gene="ACP5"
                     /gene_synonym="HPAP; TRAcP; TRACP5a; TRACP5b; TRAP;
                     TrATPase"
                     /inference="alignment:Splign:2.1.0"
     exon            315..442
                     /gene="ACP5"
                     /gene_synonym="HPAP; TRAcP; TRACP5a; TRACP5b; TRAP;
                     TrATPase"
                     /inference="alignment:Splign:2.1.0"
     exon            443..788
                     /gene="ACP5"
                     /gene_synonym="HPAP; TRAcP; TRACP5a; TRACP5b; TRAP;
                     TrATPase"
                     /inference="alignment:Splign:2.1.0"
     exon            789..1381
                     /gene="ACP5"
                     /gene_synonym="HPAP; TRAcP; TRACP5a; TRACP5b; TRAP;
                     TrATPase"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1355..1360
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACP5"
                     /gene_synonym="HPAP; TRAcP; TRACP5a; TRACP5b; TRAP;
                     TrATPase"
                     /note="hexamer: AATAAA"
     polyA_site      1381
                     /gene="ACP5"
                     /gene_synonym="HPAP; TRAcP; TRACP5a; TRACP5b; TRAP;
                     TrATPase"
                     /note="major polyA site"
ORIGIN      
        1 agagcccacc agcctctcag agcctccggt gactggcctg tgtctccccc tggatggaca
       61 tgtggacggc gctgctcatc ctgcaagcct tgttgctacc ctccctggct gatggtgcca
      121 cccctgccct gcgctttgta gccgtgggtg actggggagg ggtccccaat gccccattcc
      181 acacggcccg ggaaatggcc aatgccaagg agatcgctcg gactgtgcag atcctgggtg
      241 cagacttcat cctgtctcta ggggacaatt tttacttcac tggtgtgcaa gacatcaatg
      301 acaagaggtt ccaggagacc tttgaggacg tattctctga ccgctccctt cgcaaagtgc
      361 cctggtacgt gctagccgga aaccatgacc accttggcaa tgtctctgcc cagattgcat
      421 actctaagat ctccaagcgc tggaacttcc ccagcccttt ctaccgcctg cacttcaaga
      481 tcccacagac caatgtgtct gtggccattt ttatgctgga cacagtgaca ctatgtggca
      541 actcagatga cttcctcagc cagcagcctg agaggccccg agacgtgaag ctggcccgca
      601 cacagctgtc ctggctcaag aaacagctgg cggcggccag ggaggactac gtgctggtgg
      661 ctggccacta ccccgtgtgg tccatagccg agcacgggcc tacccactgc ctggtcaagc
      721 agctacggcc actgctggcc acatacgggg tcactgccta cctgtgcggc cacgatcaca
      781 atctgcagta cctgcaagat gagaatggcg tgggctacgt gctgagtggg gctgggaatt
      841 tcatggaccc ctcaaagcgg caccagcgca aggtccccaa cggctatctg cgcttccact
      901 atgggactga agactcactg ggtggctttg cctatgtgga gatcagctcc aaagagatga
      961 ctgtcactta catcgaggcc tcgggcaagt ccctctttaa gaccaggctg ccgaggcgag
     1021 ccaggccctg aactcccatg actgcccagc tctgaggccc gatctccact gttgggtggg
     1081 tgggccctgc cgggaccctg ctcacaggca ggcttttcct ccaacctgtg gcgctgcagc
     1141 agggcaggaa ggggaaacac agctgatgaa ctgtggtgcc acatgaccct tgtggcacag
     1201 atgcccacgt atgtgaaaca cacatggaca tgtgtcccag ccacagtgtt atgctctgtg
     1261 gctggctcac ctttgctgag ttccggggtg caatggggga gggagggagg gaaagcttcc
     1321 tcctaaatca agcatctttc tgttactgat gttcaataaa agaatagttg ccaaggctga
     1381 a
//
