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    ACP1 acid phosphatase 1 [ Homo sapiens (human) ]

    Gene ID: 52, updated on 27-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Association of acid phosphatase locus 1*C allele with the risk of cardiovascular events in rheumatoid arthritis patients. Teruel M, et al. Arthritis Res Ther, 2011 Jul 18. PMID 21767392, Free PMC Article
    2. Identification of protein-ribulosamine-5-phosphatase as human low-molecular-mass protein tyrosine phosphatase-A. Fortpied J, et al. Biochem J, 2007 Aug 15. PMID 17472574, Free PMC Article
    3. Repeated spontaneous abortion. Cooperative effects of ADA and ACP1 genetic polymorphisms. Nicotra M, et al. Am J Reprod Immunol, 2007 Jul. PMID 17565542
    4. Skin testing correlates negatively with high-activity ACP1 *B/*C genotype. Greco E, et al. Int Arch Allergy Immunol, 2008. PMID 17703100
    5. Low molecular weight protein tyrosine phosphatase genetic polymorphism and susceptibility to cancer development. Alho I, et al. Cancer Genet Cytogenet, 2008 Feb. PMID 18262048

    See all (184) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Platelet-dependent signaling and Low Molecular Weight Protein Tyrosine Phosphatase expression promote aggressive phenotypic changes in gastrointestinal cancer cells.
      Title: Platelet-dependent signaling and Low Molecular Weight Protein Tyrosine Phosphatase expression promote aggressive phenotypic changes in gastrointestinal cancer cells.
    2. Vemurafenib downmodulates aggressiveness mediators of colorectal cancer (CRC): Low Molecular Weight Protein Tyrosine Phosphatase (LMWPTP), Protein Tyrosine Phosphatase 1B (PTP1B) and Transforming Growth Factor beta (TGFbeta).
      Title: Vemurafenib downmodulates aggressiveness mediators of colorectal cancer (CRC): Low Molecular Weight Protein Tyrosine Phosphatase (LMWPTP), Protein Tyrosine Phosphatase 1B (PTP1B) and Transforming Growth Factor β (TGFβ).
    3. Low molecular weight protein tyrosine phosphatase as signaling hub of cancer hallmarks.
      Title: Low molecular weight protein tyrosine phosphatase as signaling hub of cancer hallmarks.
    4. LMWPTP modulates the antioxidant response and autophagy process in human chronic myeloid leukemia cells.
      Title: LMWPTP modulates the antioxidant response and autophagy process in human chronic myeloid leukemia cells.
    5. Results show that melanoma cells express high LMW-PTP levels in comparison with normal fibroblasts. Its downregulation sensitizes melanoma cell line to dacarbazine, 5-FU, and radiotherapy. These results provide evidence that LMW-PTP induces resistance toward traditional anticancer therapy.
      Title: Targeting LMW-PTP to sensitize melanoma cancer cells toward chemo- and radiotherapy.
    6. LMWPTP may be involved in time to progression of castration-resistant prostate cancer
      Title: Prediction of Time to Castration-Resistant Prostate Cancer Using Low-Molecular-Weight Protein Tyrosine Phosphatase Expression for Men with Metastatic Hormone-Naïve Prostate Cancer.
    7. ACP1 may have an important role in regulation of the multiple systems associated with suicide.
      Title: Replication of rs300774, a genetic biomarker near ACP1, associated with suicide attempts in patients with schizophrenia: Relation to brain cholesterol biosynthesis.
    8. Conditioned medium from MDA-MB-231 breast cancer cells with total knockdown of LMW-PTP, but not of slow isoform LMW-PTP, significantly reduced osteoclast differentiation of RAW 264.7 cells.
      Title: Total Knockdown of LMW-PTP in MDA-MB-231 Cells Reduces Osteoclastogenesis.
    9. results confirm the role of TPH1, TPH2, 5HT2A, CRHR1 and ACP1 variants in the risk of suicidal behavior.
      Title: Suicide behavior as a quantitative trait and its genetic background.
    10. These data support that PTPN22 1858C/T, PTPRJ 2965C/G and 1176 A/C polymorphisms and ACP1 A, B and C alleles are not associated with a higher risk of immune thrombocytopenia P in adults.
      Title: No impact of PTPN22, PTPRJ and ACP1 genes polymorphisms on the risk of immune thrombocytopenia in French adult patients.
    Submit: New GeneRIF Correction See all GeneRIFs (74)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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    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)

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    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_001040649.3 → NP_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:7 → 84
      LMWPTP; Low molecular weight protein tyrosine phosphatase

    2. NM_004300.4 → NP_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:7 → 155
      LMWPTP; Low molecular weight protein tyrosine phosphatase

    3. NM_007099.4 → NP_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:7 → 155
      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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P24666.3 GenPept UniProtKB/Swiss-Prot:P24666

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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