This gene is a member of the acylphosphatase family. The encoded protein is a small cytosolic enzyme that catalyzes the hydrolysis of the carboxyl-phosphate bond of acylphosphates. Two isoenzymes have been isolated and described based on their tissue localization: erythrocyte (common) type acylphosphatase encoded by this gene, and muscle type acylphosphatase. Alternative splici... See more...

Aliases for ACYP1 Gene

Aliases for ACYP1 Gene

  • Acylphosphatase 1 2 3 5
  • Acylphosphatase 1, Erythrocyte (Common) Type 2 3
  • Acylphosphatase, Organ-Common Type Isozyme 3 4
  • Acylphosphatase, Erythrocyte Isozyme 3 4
  • Acylphosphate Phosphohydrolase 1 3 4
  • Acylphosphatase-1 3 4
  • ACYPE 3 4
  • EC 3.6.1.7 4

External Ids for ACYP1 Gene

Previous GeneCards Identifiers for ACYP1 Gene

  • GC14M073046
  • GC14M069337
  • GC14M073509
  • GC14M074589
  • GC14M075519
  • GC14M055688

Summaries for ACYP1 Gene

Entrez Gene Summary for ACYP1 Gene

  • This gene is a member of the acylphosphatase family. The encoded protein is a small cytosolic enzyme that catalyzes the hydrolysis of the carboxyl-phosphate bond of acylphosphates. Two isoenzymes have been isolated and described based on their tissue localization: erythrocyte (common) type acylphosphatase encoded by this gene, and muscle type acylphosphatase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

GeneCards Summary for ACYP1 Gene

ACYP1 (Acylphosphatase 1) is a Protein Coding gene. Diseases associated with ACYP1 include Niemann-Pick Disease, Type C2 and Niemann-Pick Disease. Among its related pathways are Naphthalene metabolism and ATP/ITP metabolism. Gene Ontology (GO) annotations related to this gene include acylphosphatase activity. An important paralog of this gene is ACYP2.

UniProtKB/Swiss-Prot Summary for ACYP1 Gene

Gene Wiki entry for ACYP1 Gene

Additional gene information for ACYP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACYP1 Gene

Genomics for ACYP1 Gene

GeneHancer (GH) Regulatory Elements for ACYP1 Gene

Promoters and enhancers for ACYP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J075067 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 507.3 -0.1 -140 4.7 ZNF217 SIN3A NRF1 MYC POLR2G USF1 GTF2E2 PHF8 JUND ZFX ZC2HC1C ACYP1 HSALNG0102489 lnc-ACYP1-1 EIF2B2 RNU6-689P
GH14J075062 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 507.3 +5.7 5691 2.4 ZBTB40 ZNF217 SIN3A TCF12 POLR2G SP1 FOS ZIC2 REST POLR2A MLH3 ACYP1 ZC2HC1C EIF2B2 NEK9 FCF1 YLPM1 PGF lnc-ACYP1-1
GH14J075273 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.9 -209.6 -209639 11.8 EP300 FOXK2 ZNF217 CTCF SIN3A TCF12 NRF1 POLR2G SP1 NCOR1 FOS lnc-TMED10-5 ENSG00000258559 GPATCH2L ABCD4 NEK9 ENSG00000259005 MLH3 FCF1 TTLL5
GH14J074972 Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 17.7 +88.0 87982 18.2 USF1 TEAD4 ZFX ZIC2 TRIM28 RFX1 RELA CUX1 TEAD1 HDAC2 EIF2B2 ACYP1 PGF MLH3 ZC2HC1C RNU6-689P RPS6KL1 DLST PROX2 TTLL5
GH14J074922 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 10.7 +146.4 146439 1.7 EP300 POLR2G JUND ZFX ZIC2 ZBTB26 MYC TGIF2 CTBP1 ATF2 RPS6KL1 piR-42525 DLST PGF PROX2 ACYP1 ZC2HC1C RNU6-689P MLH3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACYP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACYP1

Top Transcription factor binding sites by QIAGEN in the ACYP1 gene promoter:
  • Brachyury
  • IRF-1
  • Pax-4a
  • POU2F1
  • POU2F1a
  • Roaz
  • STAT1
  • STAT1alpha
  • STAT2

Genomic Locations for ACYP1 Gene

Genomic Locations for ACYP1 Gene
chr14:75,053,221-75,069,483
(GRCh38/hg38)
Size:
16,263 bases
Orientation:
Minus strand
chr14:75,519,924-75,536,186
(GRCh37/hg19)
Size:
16,263 bases
Orientation:
Minus strand

Genomic View for ACYP1 Gene

Genes around ACYP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACYP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACYP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACYP1 Gene

Proteins for ACYP1 Gene

  • Protein details for ACYP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07311-ACYP1_HUMAN
    Recommended name:
    Acylphosphatase-1
    Protein Accession:
    P07311
    Secondary Accessions:
    • A6NDV8
    • B2R590

    Protein attributes for ACYP1 Gene

    Size:
    99 amino acids
    Molecular mass:
    11261 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for ACYP1 Gene

    Alternative splice isoforms for ACYP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACYP1 Gene

Post-translational modifications for ACYP1 Gene

  • Ubiquitination at Lys33, Lys58, and Lys89
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ACYP1 Gene

Domains & Families for ACYP1 Gene

Gene Families for ACYP1 Gene

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

Protein Domains for ACYP1 Gene

Suggested Antigen Peptide Sequences for ACYP1 Gene

GenScript: Design optimal peptide antigens:
  • Acylphosphate phosphohydrolase 1 (ACYP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P07311

UniProtKB/Swiss-Prot:

ACYP1_HUMAN :
  • Belongs to the acylphosphatase family.
Family:
  • Belongs to the acylphosphatase family.
genes like me logo Genes that share domains with ACYP1: view

Function for ACYP1 Gene

Molecular function for ACYP1 Gene

UniProtKB/Swiss-Prot Function:
Its physiological role is not yet clear.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an acyl phosphate + H2O = a carboxylate + H(+) + phosphate; Xref=Rhea:RHEA:14965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29067, ChEBI:CHEBI:43474, ChEBI:CHEBI:59918; EC=3.6.1.7;.
GENATLAS Biochemistry:
acylphosphatase 1erythrocyte (common) type,11kDa

Enzyme Numbers (IUBMB) for ACYP1 Gene

Phenotypes From GWAS Catalog for ACYP1 Gene

Gene Ontology (GO) - Molecular Function for ACYP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003998 acylphosphatase activity IBA 21873635
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ACYP1: view
genes like me logo Genes that share phenotypes with ACYP1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ACYP1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACYP1

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ACYP1 Gene

Localization for ACYP1 Gene

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 ACYP1 gene
Compartment Confidence
cytosol 3
plasma membrane 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ACYP1 Gene

Pathways & Interactions for ACYP1 Gene

PathCards logo

SuperPathways for ACYP1 Gene

SuperPathway Contained pathways
1 Metabolism
2 Pyruvate metabolism
3 ATP/ITP metabolism
-
4 Naphthalene metabolism
-
genes like me logo Genes that share pathways with ACYP1: view

Pathways by source for ACYP1 Gene

2 KEGG pathways for ACYP1 Gene
2 GeneGo (Thomson Reuters) pathways for ACYP1 Gene
  • ATP/ITP metabolism
  • Naphthalene metabolism

Interacting Proteins for ACYP1 Gene

;

Gene Ontology (GO) - Biological Process for ACYP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006796 phosphate-containing compound metabolic process TAS 3026468
genes like me logo Genes that share ontologies with ACYP1: view

No data available for SIGNOR curated interactions for ACYP1 Gene

Drugs & Compounds for ACYP1 Gene

(11) Drugs for ACYP1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
acetic acid Approved Pharma Full agonist, Agonist 141
Benzoic acid Approved, Investigational Pharma 11
Palmitic Acid Approved Pharma Full agonist, Agonist 25
Phosphoric acid Approved Pharma 0
Stearic acid Approved, Experimental Pharma 0

(7) Additional Compounds for ACYP1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Arachidic acid
  • Arachidinic acid
  • Arachinsaeure
  • C20:0
  • CH3-[CH2]18-COOH
  • Eicosanoic acid
506-30-9
Benzoyl phosphate
Glyceric acid 1,3-biphosphate
  • 1,3-Biphosphoglycerate
  • 1,3-Biphosphoglyceric acid
  • 1,3-Bis-phosphoglycerate
  • 1,3-Bisphosphoglycerate
  • 1,3-Diphosphateglycerate
1981-49-3
Heptadecanoic acid
  • 17:0
  • C17:0
  • CH3-[CH2]15-COOH
  • Heptadecoic acid
  • Heptadecylic acid
506-12-7
Heptadecanoyl CoA
  • Heptadecanoyl-coenzyme A
  • Heptadecanoate
  • Heptadecanoic acid
  • Heptadecanoic acid CoA
  • Heptadecanoyl coenzyme A
3546-17-6
genes like me logo Genes that share compounds with ACYP1: view

Transcripts for ACYP1 Gene

mRNA/cDNA for ACYP1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACYP1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACYP1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b
SP1: - -
SP2: -
SP3: - - -
SP4: - - - -
SP5:

Relevant External Links for ACYP1 Gene

GeneLoc Exon Structure for
ACYP1

Expression for ACYP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACYP1 Gene

Protein differential expression in normal tissues from HIPED for ACYP1 Gene

This gene is overexpressed in Tlymphocyte (7.7) and Oral epithelium (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACYP1 Gene



Protein tissue co-expression partners for ACYP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACYP1

SOURCE GeneReport for Unigene cluster for ACYP1 Gene:

Hs.18573

mRNA Expression by UniProt/SwissProt for ACYP1 Gene:

P07311-ACYP1_HUMAN
Tissue specificity: Organ-common type isozyme is found in many different tissues.
genes like me logo Genes that share expression patterns with ACYP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACYP1 Gene

Orthologs for ACYP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACYP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACYP1 31 30
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ACYP1 31 30
  • 92.59 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ACYP1 31 30
  • 89.56 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Acyp1 17 31 30
  • 85.86 (n)
rat
(Rattus norvegicus)
Mammalia Acyp1 30
  • 85.86 (n)
oppossum
(Monodelphis domestica)
Mammalia ACYP1 31
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACYP1 31 30
  • 63.3 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACYP1 31
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acyp1 30
  • 64.29 (n)
zebrafish
(Danio rerio)
Actinopterygii acyp1 30
  • 66.67 (n)
fruit fly
(Drosophila melanogaster)
Insecta Acyp2 31
  • 40 (a)
OneToMany
CG18371 31
  • 37 (a)
OneToMany
CG34161 31
  • 34 (a)
OneToMany
Acyp 31
  • 33 (a)
OneToMany
CG11052 31
  • 24 (a)
OneToMany
Species where no ortholog for ACYP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for ACYP1 Gene

ENSEMBL:
Gene Tree for ACYP1 (if available)
TreeFam:
Gene Tree for ACYP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACYP1: view image

Paralogs for ACYP1 Gene

Paralogs for ACYP1 Gene

(1) SIMAP similar genes for ACYP1 Gene using alignment to 4 proteins:

  • ACYP1_HUMAN
  • G3V2U7_HUMAN
  • G3V3F8_HUMAN
  • G3V597_HUMAN
genes like me logo Genes that share paralogs with ACYP1: view

Variants for ACYP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACYP1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs140130028 Conflicting Interpretations: Niemann-Pick disease type C2; not specified; not provided 74,480,701(-) C/T SPLICE_DONOR_VARIANT,MISSENSE_VARIANT
rs151220873 Benign/Likely Benign: Microcephaly; Seizures; Global developmental delay; Brain atrophy; not specified; not provided 74,486,431(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ACYP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ACYP1 Gene

Variant ID Type Subtype PubMed ID
dgv1103n106 CNV deletion 24896259
dgv3778n54 CNV loss 21841781
dgv3779n54 CNV loss 21841781
dgv3780n54 CNV loss 21841781
dgv3781n54 CNV loss 21841781
esv2677383 CNV deletion 23128226
esv29535 CNV loss 19812545
esv3551775 CNV deletion 23714750
esv3634953 CNV loss 21293372
nsv510644 CNV deletion 20534489
nsv565188 CNV loss 21841781

Variation tolerance for ACYP1 Gene

Residual Variation Intolerance Score: 44.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.38; 76.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACYP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACYP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACYP1 Gene

Disorders for ACYP1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ACYP1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
niemann-pick disease, type c2
  • npc2
niemann-pick disease
  • niemann-pick disease, type a
nephronophthisis 1
  • nphp1
- elite association - COSMIC cancer census association via MalaCards
Search ACYP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ACYP1

genes like me logo Genes that share disorders with ACYP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACYP1 Gene

Publications for ACYP1 Gene

  1. Assignment of the human erythrocyte acylphosphatase gene (ACYP1) to chromosome band 14q24.3. (PMID: 9730610) Fiaschi T … Ramponi G (Cytogenetics and cell genetics 1998) 2 3 23 54
  2. Cloning and expression of the cDNA coding for the erythrocyte isoenzyme of human acylphosphatase. (PMID: 7796909) Fiaschi T … Ramponi G (FEBS letters 1995) 2 3 4 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. ACYP1 gene possesses two alternative splicing forms that induce apoptosis. (PMID: 14992377) Degl'Innocenti D … Ramponi G (IUBMB life 2004) 3 23 54
  5. The DNA sequence and analysis of human chromosome 14. (PMID: 12508121) Heilig R … Weissenbach J (Nature 2003) 3 4 54

Products for ACYP1 Gene

Sources for ACYP1 Gene