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ACP1 acid phosphatase 1 [ Homo sapiens (human) ]

Gene ID: 52, updated on 3-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
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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 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)

Genotypes

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 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 
Process Evidence Code Pubs
involved_in protein dephosphorylation 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

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