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    ACP1 acid phosphatase 1 [ Homo sapiens (human) ]

    Gene ID: 52, updated on 9-Dec-2024

    Summary

    Official Symbol
    ACP1provided by HGNC
    Official Full Name
    acid phosphatase 1provided by HGNC
    Primary source
    HGNC:HGNC:122
    See related
    Ensembl:ENSG00000143727 MIM:171500; AllianceGenome:HGNC:122
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HAAP; LMWPTP; LMW-PTP
    Summary
    The product of this gene belongs to the phosphotyrosine protein phosphatase family of proteins. It functions as an acid phosphatase and a protein tyrosine phosphatase by hydrolyzing protein tyrosine phosphate to protein tyrosine and orthophosphate. This enzyme also hydrolyzes orthophosphoric monoesters to alcohol and orthophosphate. This gene is genetically polymorphic, and three common alleles segregating at the corresponding locus give rise to six phenotypes. Each allele appears to encode at least two electrophoretically different isozymes, Bf and Bs, which are produced in allele-specific ratios. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2008]
    Expression
    Ubiquitous expression in adrenal (RPKM 48.0), kidney (RPKM 32.6) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ACP1 in Genome Data Viewer
    Location:
    2p25.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (264947..278283)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (265202..278542)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (264947..278283)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373324 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:162049-163248 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:197602-198801 Neighboring gene SH3 and SYLF domain containing 1 Neighboring gene MPRA-validated peak3578 silencer Neighboring gene MPRA-validated peak3579 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11098 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11099 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15215 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:284666-285865 Neighboring gene uncharacterized LOC101927262 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11100 Neighboring gene uncharacterized LOC105373346 Neighboring gene ALK and LTK ligand 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:309367-310259

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC3499, MGC111030

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables acid phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables acid phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables histone H2AXY142 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables non-membrane spanning protein tyrosine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein tyrosine phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein tyrosine phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein tyrosine phosphatase activity, metal-dependent IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in sarcolemma IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    low molecular weight phosphotyrosine protein phosphatase
    Names
    LMW-PTPase
    acid phosphatase 1, soluble
    acid phosphatase of erythrocyte
    adipocyte acid phosphatase
    cytoplasmic phosphotyrosyl protein phosphatase
    low molecular weight cytosolic acid phosphatase
    protein tyrosine phosphatase
    red cell acid phosphatase 1
    testicular secretory protein Li 37
    NP_001035739.1
    NP_004291.1
    NP_009030.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012035.1 RefSeqGene

      Range
      5079..18415
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001040649.3NP_001035739.1  low molecular weight phosphotyrosine protein phosphatase isoform d

      See identical proteins and their annotated locations for NP_001035739.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents the shortest transcript and encodes the shortest isoform (d).
      Source sequence(s)
      AC079779, DA378283
      Consensus CDS
      CCDS46217.1
      UniProtKB/TrEMBL
      A0A140VK37
      Related
      ENSP00000385404.3, ENST00000407983.7
      Conserved Domains (1) summary
      cd16343
      Location:784
      LMWPTP; Low molecular weight protein tyrosine phosphatase
    2. NM_004300.4NP_004291.1  low molecular weight phosphotyrosine protein phosphatase isoform c

      See identical proteins and their annotated locations for NP_004291.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences in the coding region, compared to variant 4. The resulting protein (isoform c, also known as Bf) has a distinct C-terminus and is longer than isoform d.
      Source sequence(s)
      AB209838, BX481618, DB443811
      Consensus CDS
      CCDS1639.1
      UniProtKB/Swiss-Prot
      A8K1L9, B5MCC7, P24666, P24667, Q16035, Q16036, Q16725, Q3KQX8, Q53RU0
      UniProtKB/TrEMBL
      Q59EH3
      Related
      ENSP00000272065.5, ENST00000272065.10
      Conserved Domains (1) summary
      cd16343
      Location:7155
      LMWPTP; Low molecular weight protein tyrosine phosphatase
    3. NM_007099.4NP_009030.1  low molecular weight phosphotyrosine protein phosphatase isoform b

      See identical proteins and their annotated locations for NP_009030.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple differences in the coding region, compared to variant 4, one of which results in a translational frameshift. The resulting protein (isoform b, also known as Bs) has a distinct C-terminus and is longer than isoform d.
      Source sequence(s)
      BC007422, BX481618, M83654
      Consensus CDS
      CCDS1640.1
      UniProtKB/Swiss-Prot
      P24666
      Related
      ENSP00000272067.6, ENST00000272067.11
      Conserved Domains (1) summary
      cd16343
      Location:7155
      LMWPTP; Low molecular weight protein tyrosine phosphatase

    RNA

    1. NR_024080.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) has multiple differences in the coding region, compared to variant 4, one of which results in a frameshift with an early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is truncated and the transcript is a candidate for nonsense-mediated decay (NMD).
      Source sequence(s)
      AB209838, BJ992018, BX481618

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      264947..278283
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      265202..278542
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_177554.1: Suppressed sequence

      Description
      NM_177554.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.