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 thr... See more...

Aliases for ACP1 Gene

Aliases for ACP1 Gene

  • Acid Phosphatase 1 2 3 5
  • Low Molecular Weight Phosphotyrosine Protein Phosphatase 2 3 4
  • Low Molecular Weight Cytosolic Acid Phosphatase 3 4
  • Acid Phosphatase Of Erythrocyte 2 3
  • Red Cell Acid Phosphatase 1 3 4
  • Acid Phosphatase 1, Soluble 2 3
  • Adipocyte Acid Phosphatase 3 4
  • LMW-PTPase 3 4
  • LMW-PTP 3 4
  • Cytoplasmic Phosphotyrosyl Protein Phosphatase 3
  • Testicular Secretory Protein Li 37 3
  • Protein Tyrosine Phosphatase 3
  • Red Cell Acid Phosphatase 2
  • EC 3.1.3.48 4
  • EC 3.1.3.2 4
  • LMWPTP 3
  • HAAP 3

External Ids for ACP1 Gene

Previous GeneCards Identifiers for ACP1 Gene

  • GC02P000258

Summaries for ACP1 Gene

Entrez Gene Summary for ACP1 Gene

  • 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]

GeneCards Summary for ACP1 Gene

ACP1 (Acid Phosphatase 1) is a Protein Coding gene. Diseases associated with ACP1 include Pharyngeal-Cervical-Brachial Variant Of Guillain-Barre Syndrome and Bubonic Plague. Among its related pathways are Riboflavin metabolism and PDGFR-beta signaling pathway. Gene Ontology (GO) annotations related to this gene include phosphatase activity and acid phosphatase activity. An important paralog of this gene is PTRHD1.

UniProtKB/Swiss-Prot Summary for ACP1 Gene

  • Acts on tyrosine phosphorylated proteins, low-MW aryl phosphates and natural and synthetic acyl phosphates. Isoform 3 does not possess phosphatase activity.

Gene Wiki entry for ACP1 Gene

Additional gene information for ACP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACP1 Gene

Genomics for ACP1 Gene

GeneHancer (GH) Regulatory Elements for ACP1 Gene

Promoters and enhancers for ACP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACP1

Top Transcription factor binding sites by QIAGEN in the ACP1 gene promoter:
  • GATA-2
  • Meis-1
  • p53
  • Pax-2
  • Pax-2a
  • STAT3
  • STAT5B

Genomic Locations for ACP1 Gene

Genomic Locations for ACP1 Gene
chr2:264,140-278,283
(GRCh38/hg38)
Size:
14,144 bases
Orientation:
Plus strand
chr2:264,140-278,283
(GRCh37/hg19)
Size:
14,144 bases
Orientation:
Plus strand

Genomic View for ACP1 Gene

Genes around ACP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACP1 Gene

Proteins for ACP1 Gene

  • Protein details for ACP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P24666-PPAC_HUMAN
    Recommended name:
    Low molecular weight phosphotyrosine protein phosphatase
    Protein Accession:
    P24666
    Secondary Accessions:
    • A8K1L9
    • B5MCC7
    • P24667
    • Q16035
    • Q16036
    • Q16725
    • Q3KQX8
    • Q53RU0

    Protein attributes for ACP1 Gene

    Size:
    158 amino acids
    Molecular mass:
    18042 Da
    Quaternary structure:
    • Isoform 1 interacts with the SH3 domain of SPTAN1. There is no interaction observed for isoforms 2 or 3. Interacts with EPHA2; dephosphorylates EPHA2. Interacts with EPHB1.

    Three dimensional structures from OCA and Proteopedia for ACP1 Gene

    Alternative splice isoforms for ACP1 Gene

neXtProt entry for ACP1 Gene

Post-translational modifications for ACP1 Gene

  • Ubiquitination at Lys113
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ACP1 Gene

Domains & Families for ACP1 Gene

Gene Families for ACP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ACP1 Gene

Blocks:
  • LMW phosphotyrosine protein phosphatase signature
  • Mammalian LMW phosphotyrosine protein phosphatase signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ACP1 Gene

GenScript: Design optimal peptide antigens:
  • Protein-tyrosine-phosphatase, isoform 3 (O75702_HUMAN)
  • Red cell acid phosphatase 1 (PPAC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P24666

UniProtKB/Swiss-Prot:

PPAC_HUMAN :
  • Belongs to the low molecular weight phosphotyrosine protein phosphatase family.
Family:
  • Belongs to the low molecular weight phosphotyrosine protein phosphatase family.
genes like me logo Genes that share domains with ACP1: view

Function for ACP1 Gene

Molecular function for ACP1 Gene

UniProtKB/Swiss-Prot Function:
Acts on tyrosine phosphorylated proteins, low-MW aryl phosphates and natural and synthetic acyl phosphates. Isoform 3 does not possess phosphatase activity.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate; Xref=Rhea:RHEA:10684, Rhea:RHEA-COMP:10136, Rhea:RHEA-COMP:10137, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620; EC=3.1.3.48;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a phosphate monoester + H2O = an alcohol + phosphate; Xref=Rhea:RHEA:15017, ChEBI:CHEBI:15377, ChEBI:CHEBI:30879, ChEBI:CHEBI:43474, ChEBI:CHEBI:67140; EC=3.1.3.2;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by sulfhydryl reagents.
GENATLAS Biochemistry:
phosphatase acid,red cell

Enzyme Numbers (IUBMB) for ACP1 Gene

Phenotypes From GWAS Catalog for ACP1 Gene

Gene Ontology (GO) - Molecular Function for ACP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003993 acid phosphatase activity IEA --
GO:0004721 phosphoprotein phosphatase activity IEA --
GO:0004725 protein tyrosine phosphatase activity IBA 21873635
GO:0004726 non-membrane spanning protein tyrosine phosphatase activity IEA --
GO:0005515 protein binding IPI 9499402
genes like me logo Genes that share ontologies with ACP1: view
genes like me logo Genes that share phenotypes with ACP1: view

Animal Models for ACP1 Gene

MGI Knock Outs for ACP1:

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ACP1 Gene

Localization for ACP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACP1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACP1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
cytosol 2
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ACP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 10940933
GO:0009898 cytoplasmic side of plasma membrane IDA 10940933
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with ACP1: view

Pathways & Interactions for ACP1 Gene

genes like me logo Genes that share pathways with ACP1: view

Pathways by source for ACP1 Gene

SIGNOR curated interactions for ACP1 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for ACP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation IEA --
GO:0035335 peptidyl-tyrosine dephosphorylation IEA --
genes like me logo Genes that share ontologies with ACP1: view

Drugs & Compounds for ACP1 Gene

(72) Drugs for ACP1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenine Approved Nutra Target 0
Flavin Mononucleotide Approved, Investigational Pharma 11
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Riboflavin Approved, Investigational, Vet_approved Nutra 220

(53) Additional Compounds for ACP1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with ACP1: view

Transcripts for ACP1 Gene

mRNA/cDNA for ACP1 Gene

4 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACP1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d · 9e · 9f · 9g
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - - - -
SP4: - - - - - -
SP5: - - - - -
SP6: - - - - -
SP7: - - - - - - -
SP8: - - - - - -
SP9: - -

Relevant External Links for ACP1 Gene

GeneLoc Exon Structure for
ACP1

Expression for ACP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACP1 Gene

Protein differential expression in normal tissues from HIPED for ACP1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACP1 Gene



Protein tissue co-expression partners for ACP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACP1

SOURCE GeneReport for Unigene cluster for ACP1 Gene:

Hs.558296

mRNA Expression by UniProt/SwissProt for ACP1 Gene:

P24666-PPAC_HUMAN
Tissue specificity: T-lymphocytes express only isoform 2.

Evidence on tissue expression from TISSUES for ACP1 Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Blood(4.4)
  • Muscle(4.4)
  • Heart(2.1)
  • Intestine(2.1)
  • Kidney(2.1)
  • Lung(2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with ACP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACP1 Gene

Orthologs for ACP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ACP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACP1 31 30
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ACP1 31
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACP1 31
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acp1 17 31 30
  • 84.81 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 84 (a)
OneToMany
-- 31
  • 82 (a)
OneToMany
-- 31
  • 74 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia RGD1565965 30
  • 82.91 (n)
cow
(Bos Taurus)
Mammalia ACP1 31
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACP1 31 30
  • 78.48 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACP1 31
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5878 30
zebrafish
(Danio rerio)
Actinopterygii acp1 31 30
  • 69.44 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10863 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004079 30
  • 55.63 (n)
fruit fly
(Drosophila melanogaster)
Insecta primo-1 31 32 30
  • 52.48 (n)
OneToMany
primo-2 31
  • 42 (a)
OneToMany
CG31469 31
  • 30 (a)
OneToMany
CG14297 31
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y94H6A.7 31 30
  • 50.43 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LTP1 33 31
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 28 (a)
OneToOne
Species where no ortholog for ACP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACP1 Gene

ENSEMBL:
Gene Tree for ACP1 (if available)
TreeFam:
Gene Tree for ACP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACP1: view image

Paralogs for ACP1 Gene

Paralogs for ACP1 Gene

genes like me logo Genes that share paralogs with ACP1: view

Variants for ACP1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ACP1 Gene

PPAC_HUMAN-P24666
ACP1 is genetically polymorphic. Three common alleles are known in Caucasians: ACP1*A, ACP1*B and ACP1*C. They give rise to six different phenotypes. Each allele appears to encode two electrophoretically different isozymes, F and S, which are produced in allele-specific ratios (PubMed:1939112). The sequence shown is that of allele ACP1*B and allele ACP1*C.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACP1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
711059 Benign: not provided 277,250(+) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
712259 Benign: not provided 265,017(+) C/T INTRON_VARIANT
712497 Benign: not provided 277,229(+) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
717141 Benign: not provided 264,985(+) G/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
756151 Likely Benign: not provided 271,918(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ACP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ACP1 Gene

Variant ID Type Subtype PubMed ID
dgv3698n100 CNV gain 25217958
esv2759016 CNV gain 17122850
esv3589598 CNV gain 21293372
esv3589599 CNV gain 21293372
nsv833159 CNV loss 17160897
nsv833170 CNV loss 17160897

Variation tolerance for ACP1 Gene

Residual Variation Intolerance Score: 44.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.85; 86.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACP1

SNP Genotyping and Copy Number Assay Products

Disorders for ACP1 Gene

MalaCards: The human disease database

(19) MalaCards diseases for ACP1 Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ACP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ACP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ACP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACP1 Gene

Publications for ACP1 Gene

  1. Type 1 diabetes: evidence of interaction between ACP1 and ADA1 gene polymorphisms. (PMID: 19789510) Saccucci P … Gloria-Bottini F (Medical science monitor : international medical journal of experimental and clinical research 2009) 3 23 41 54
  2. ACP1 genotype, glutathione reductase activity, and riboflavin uptake affect cardiovascular risk in the obese. (PMID: 19570551) Apelt N … Bicho MP (Metabolism: clinical and experimental 2009) 3 23 41 54
  3. [Genetic polymorphisms of low molecular weight protein tyrosine phosphatase (LMW-PTP): relationship with erythrocyte enzymatic phenotype in patients with Systemic Lupus Erythematosus]. (PMID: 18604186) Esteves Martins Mde F … Pires Bicho MD (Acta reumatologica portuguesa 2008) 3 23 41 54
  4. Dopaminergic polymorphisms in Tourette syndrome: association with the DAT gene (SLC6A3). (PMID: 17171650) Yoon DY … Singer HS (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007) 3 23 41 54
  5. Risk of type 1 diabetes in childhood and maternal age at delivery, interaction with ACP1 and sex. (PMID: 15586390) Bottini N … Bottini E (Diabetes/metabolism research and reviews 2005) 3 23 41 54

Products for ACP1 Gene

Sources for ACP1 Gene