LOCUS       NM_001610               2111 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens acid phosphatase 2, lysosomal (ACP2), transcript
            variant 1, mRNA.
ACCESSION   NM_001610
VERSION     NM_001610.4
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  (bases 1 to 2111)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 2111)
  AUTHORS   Perrone,E., Perez,A.B.A., D'Almeida,V., de Mello,C.B.,
            Jacobina,M.A.A., Loureiro,R.M., Burlin,S., Migliavacca,M., do
            Amaral Virmond,L., Graziadio,C., Pedroso,J.L., Mendes,E.L., Gomy,I.
            and de Macena Sobreira,N.L.
  TITLE     Clinical and molecular evaluation of 13 Brazilian patients with
            Gomez-Lopez-Hernandez syndrome
  JOURNAL   Am J Med Genet A 185 (4), 1047-1058 (2021)
   PUBMED   33381921
  REMARK    GeneRIF: Clinical and molecular evaluation of 13 Brazilian patients
            with Gomez-Lopez-Hernandez syndrome.
REFERENCE   3  (bases 1 to 2111)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 2111)
  AUTHORS   Loughran,G., Chou,M.Y., Ivanov,I.P., Jungreis,I., Kellis,M.,
            Kiran,A.M., Baranov,P.V. and Atkins,J.F.
  TITLE     Evidence of efficient stop codon readthrough in four mammalian
            genes
  JOURNAL   Nucleic Acids Res 42 (14), 8928-8938 (2014)
   PUBMED   25013167
REFERENCE   5  (bases 1 to 2111)
  AUTHORS   Mannan,A.U., Roussa,E., Kraus,C., Rickmann,M., Maenner,J.,
            Nayernia,K., Krieglstein,K., Reis,A. and Engel,W.
  TITLE     Mutation in the gene encoding lysosomal acid phosphatase (Acp2)
            causes cerebellum and skin malformation in mouse
  JOURNAL   Neurogenetics 5 (4), 229-238 (2004)
   PUBMED   15503243
  REMARK    GeneRIF: An enzymatically inactive allele of mouse Acp2 causes
            cerebellum abnormalities, growth retardation, hair-follicle
            abnormalities, and an ataxia-like phenotype.
REFERENCE   6  (bases 1 to 2111)
  AUTHORS   Saftig,P., Hartmann,D., Lullmann-Rauch,R., Wolff,J., Evers,M.,
            Koster,A., Hetman,M., von Figura,K. and Peters,C.
  TITLE     Mice deficient in lysosomal acid phosphatase develop lysosomal
            storage in the kidney and central nervous system
  JOURNAL   J Biol Chem 272 (30), 18628-18635 (1997)
   PUBMED   9228031
  REMARK    GeneRIF: LAP-deficient mice exhibit multiple defects including bone
            structure alterations, lysosomal storage defects in the kidneys and
            central nervous system, and an increased tendency towards seizures.
REFERENCE   7  (bases 1 to 2111)
  AUTHORS   Geier,C., von Figura,K. and Pohlmann,R.
  TITLE     Structure of the human lysosomal acid phosphatase gene
  JOURNAL   Eur J Biochem 183 (3), 611-616 (1989)
   PUBMED   2776754
REFERENCE   8  (bases 1 to 2111)
  AUTHORS   Pohlmann,R., Krentler,C., Schmidt,B., Schroder,W., Lorkowski,G.,
            Culley,J., Mersmann,G., Geier,C., Waheed,A., Gottschalk,S. et al.
  TITLE     Human lysosomal acid phosphatase: cloning, expression and
            chromosomal assignment
  JOURNAL   EMBO J 7 (8), 2343-2350 (1988)
   PUBMED   3191910
REFERENCE   9  (bases 1 to 2111)
  AUTHORS   Jones,C. and Kao,F.T.
  TITLE     Regional mapping of the gene for human lysosomal acid phosphatase
            (ACP2) using a hybrid clone panel containing segments of human
            chromosome 11
  JOURNAL   Hum Genet 45 (1), 1-10 (1978)
   PUBMED   730175
REFERENCE   10 (bases 1 to 2111)
  AUTHORS   Gierek,T., Lisiewicz,T. and Pilch,J.
  TITLE     Intracellular enzymatic response of lymphocytes and neutrophils in
            patients with cancer of the larynx
  JOURNAL   Folia Haematol Int Mag Klin Morphol Blutforsch 104 (2), 208-215
            (1977)
   PUBMED   69583
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC018410.24.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001610.3.
            
            Summary: The protein encoded by this gene belongs to the histidine
            acid phosphatase family, which hydrolyze orthophosphoric monoesters
            to alcohol and phosphate. This protein is localized to the
            lysosomal membrane, and is chemically and genetically distinct from
            the red cell acid phosphatase. Mice lacking this gene showed
            multiple defects, including bone structure alterations, lysosomal
            storage defects, and an increased tendency towards seizures. An
            enzymatically-inactive allele of this gene in mice showed severe
            growth retardation, hair-follicle abnormalities, and an ataxia-like
            phenotype. Alternatively spliced transcript variants have been
            found for this gene. A C-terminally extended isoform is also
            predicted to be produced by the use of an alternative in-frame
            translation termination codon via a stop codon readthrough
            mechanism. [provided by RefSeq, Oct 2017].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript and encodes two isoforms, which result from the use of
            alternative in-frame translation termination codons. The shorter
            isoform (1) results from translation termination at the upstream
            UGA stop codon, while the longer isoform (1x) results from UGA stop
            codon readthrough to the downstream UAG termination codon. This
            RefSeq represents the shorter isoform (1).
            
            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 :: SRR1803612.217855.1,
                                           SRR3476690.646611.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000672073.1/ ENSP00000500291.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-139               AC018410.24        114484-114622
            140-235             AC018410.24        115165-115260
            236-322             AC018410.24        115571-115657
            323-475             AC018410.24        117464-117616
            476-574             AC018410.24        117726-117824
            575-664             AC018410.24        117904-117993
            665-797             AC018410.24        118431-118563
            798-880             AC018410.24        119977-120059
            881-987             AC018410.24        120174-120280
            988-1163            AC018410.24        120400-120575
            1164-2111           AC018410.24        123049-123996
FEATURES             Location/Qualifiers
     source          1..2111
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..2111
                     /gene="ACP2"
                     /gene_synonym="LAP"
                     /note="acid phosphatase 2, lysosomal"
                     /db_xref="GeneID:53"
                     /db_xref="HGNC:HGNC:123"
                     /db_xref="MIM:171650"
     exon            1..139
                     /gene="ACP2"
                     /gene_synonym="LAP"
                     /inference="alignment:Splign:2.1.0"
     CDS             26..1297
                     /gene="ACP2"
                     /gene_synonym="LAP"
                     /EC_number="3.1.3.2"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /codon_start=1
                     /product="lysosomal acid phosphatase isoform 1 precursor"
                     /protein_id="NP_001601.1"
                     /db_xref="CCDS:CCDS7928.1"
                     /db_xref="GeneID:53"
                     /db_xref="HGNC:HGNC:123"
                     /db_xref="MIM:171650"
                     /translation="MAGKRSGWSRAALLQLLLGVNLVVMPPTRARSLRFVTLLYRHGD
                     RSPVKTYPKDPYQEEEWPQGFGQLTKEGMLQHWELGQALRQRYHGFLNTSYHRQEVYV
                     RSTDFDRTLMSAEANLAGLFPPNGMQRFNPNISWQPIPVHTVPITEDRLLKFPLGPCP
                     RYEQLQNETRQTPEYQNESSRNAQFLDMVANETGLTDLTLETVWNVYDTLFCEQTHGL
                     RLPPWASPQTMQRLSRLKDFSFRFLFGIYQQAEKARLQGGVLLAQIRKNLTLMATTSQ
                     LPKLLVYSAHDTTLVALQMALDVYNGEQAPYASCHIFELYQEDSGNFSVEMYFRNESD
                     KAPWPLSLPGCPHRCPLQDFLRLTEPVVPKDWQQECQLASGPADTEVIVALAVCGSIL
                     FLLIVLLLTVLFRMQAQPPGYRHVADGEDHA"
     exon            140..235
                     /gene="ACP2"
                     /gene_synonym="LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            236..322
                     /gene="ACP2"
                     /gene_synonym="LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            323..475
                     /gene="ACP2"
                     /gene_synonym="LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            476..574
                     /gene="ACP2"
                     /gene_synonym="LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            575..664
                     /gene="ACP2"
                     /gene_synonym="LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            665..797
                     /gene="ACP2"
                     /gene_synonym="LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            798..880
                     /gene="ACP2"
                     /gene_synonym="LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            881..987
                     /gene="ACP2"
                     /gene_synonym="LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            988..1163
                     /gene="ACP2"
                     /gene_synonym="LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1164..2111
                     /gene="ACP2"
                     /gene_synonym="LAP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2080..2085
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACP2"
                     /gene_synonym="LAP"
                     /note="hexamer: AATGAA"
     polyA_site      2111
                     /gene="ACP2"
                     /gene_synonym="LAP"
                     /note="major polyA site"
ORIGIN      
        1 gtttgctgca tagattacaa cggtgatggc gggcaagcgg tccggctgga gccgggcggc
       61 tctcctccag ctccttctcg gcgtgaacct ggtggtgatg ccgcccaccc gggcccggag
      121 tctgcgcttc gttaccttgc tgtaccgcca tggagaccgt tcaccagtga agacatatcc
      181 caaggacccc tatcaggaag aagaatggcc ccaggggttt ggtcagttaa ccaaggaggg
      241 gatgctacag cactgggaac tgggccaggc cctgcggcag cgctatcacg gcttcctaaa
      301 cacctcttat caccggcaag aggtttatgt gcgaagcaca gactttgacc ggactctcat
      361 gagtgctgag gccaacctgg ctggactctt ccctcccaac gggatgcagc gcttcaaccc
      421 gaacatctcg tggcagccta ttcctgtgca cactgtgccc atcactgagg acaggctgct
      481 gaagttcccg ttgggcccat gtccccgtta tgagcagctg cagaacgaga cccggcagac
      541 accagagtat cagaatgaga gttctcggaa tgcacaattt ctggacatgg tggccaacga
      601 gacagggctt acagacctga cactggagac cgtctggaat gtctatgaca cactcttctg
      661 tgagcaaacg cacgggctgc gcctgccgcc ctgggcctca ccccaaacca tgcagcgtct
      721 cagccggcta aaggacttca gcttccgctt cctcttcgga atctaccagc aggcggagaa
      781 ggcccggctt caggggggag tcctgctggc tcagataagg aagaacctga ccctaatggc
      841 gaccacctcc cagctcccca agctgctggt ttactctgcg cacgacacta ccctggttgc
      901 cctgcaaatg gcactggatg tctacaatgg tgaacaagcc ccctacgcct cctgccacat
      961 atttgaactg taccaggaag attctgggaa tttctcagtg gagatgtact ttcggaacga
     1021 gagtgacaag gccccctggc cgctcagcct gcctggctgc cctcaccgct gcccactgca
     1081 ggacttcctt cgcctcacag agcccgtcgt gcccaaggat tggcagcagg agtgccagct
     1141 ggcaagcggt cctgcagaca cagaggtgat tgtggccttg gctgtatgtg gctccatcct
     1201 cttcctcctc atagtgctgc tcctcaccgt cctcttccgg atgcaggccc agcctcctgg
     1261 ctaccgccac gtcgcagatg gggaggacca cgcctgacaa ccactcagcc cccttccctc
     1321 cacctcctag gggaggtggg ctgggccctc gctcctgact gttgctgctc cccagcccat
     1381 ggacaggaga tcctgggttg ggcctccctc tgatgacccc agccagatga gcgagtgggg
     1441 ctcagcgtgg cccatggtgc ctgtcactca gcattcccat gcctgatgtt taccaagtgc
     1501 tgtgttggac actggctttc tccaaacagg atttgcctcc tccacgctcc ctacacacct
     1561 gagatgtaaa ctggcagtca gtgttcactc aggacctagg attagaaaat ggcagagttg
     1621 gtgctggatc caccttgcac ttctatcaag ccctgttctt tttcctccag cctgaagtct
     1681 tcggcaaata gctcagaggg acacggtctt gcctctcagt gcttatttta gtgggaaaaa
     1741 cagctaatac caggggtaca aacattggct cccaaggaac tggatcaccc aacagccagc
     1801 cagccacatt tccctgtgtc tggctagagc caccattaga ctcagacaga atgcttcagg
     1861 aatcgttgtc accccttcaa ctggagcagg acggaaggtt gtctgtactt gggagggagt
     1921 agggagtggt gggaagggag ttgcttgtca cacgaatcag gaaactgctc tccctcagct
     1981 gggctggggt ctccagggac ctgagctaca tgcaggttgt gagctggaaa agaaagttct
     2041 agactgtggc ccagaatagg gctggggcag ctcccagaga atgaatagtg ctgtttccta
     2101 ttggactgat a
//
