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ACYP1 Gene

protein-coding   GIFtS: 59
GCID: GC14M075519

Acylphosphatase 1, Erythrocyte (Common) Type

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Acylphosphatase 1, Erythrocyte (Common) Type1 2     Acylphosphate Phosphohydrolase 12 3
ACYPE2 3 5     acylphosphatase-12
Acylphosphatase, Erythrocyte Isozyme2 3     EC 3.6.1.73
Acylphosphatase, Organ-Common Type Isozyme2 3     

External Ids:    HGNC: 1791   Entrez Gene: 972   Ensembl: ENSG000001196407   OMIM: 6008755   UniProtKB: P073113   

Export aliases for ACYP1 gene to outside databases

Previous GC identifers: GC14M073046 GC14M069337 GC14M073509 GC14M074589 GC14M055688


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ACYP1 Gene:
Acylphosphatase is a small cytosolic enzyme that catalyzes the hydrolysis of the carboxyl-phosphate bond of
acylphosphates. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte acylphosphatase,
on the basis of their tissue localization. This gene encodes the erythrocyte acylphosphatase isoenzyme.
Alternatively spliced transcript variants that encode different proteins were identified through data analysis.
(provided by RefSeq, Jul 2008)

GeneCards Summary for ACYP1 Gene:
ACYP1 (acylphosphatase 1, erythrocyte (common) type) is a protein-coding gene. GO annotations related to this gene include acylphosphatase activity. An important paralog of this gene is ACYP2.

UniProtKB/Swiss-Prot: ACYP1_HUMAN, P07311
Function: Its physiological role is not yet clear

Gene Wiki entry for ACYP1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACYP1 gene promoter:
         STAT1   Brachyury   IRF-1   STAT1alpha   Roaz   POU2F1   POU2F1a   STAT2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACYP1 promoter sequence
   Search Chromatin IP Primers for ACYP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACYP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q24.3   Ensembl cytogenetic band:  14q24.3   HGNC cytogenetic band: 14q24.3

ACYP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACYP1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M075519:  view genomic region     (about GC identifiers)

Start:
75,519,924 bp from pter      End:
75,536,186 bp from pter
Size:
16,263 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ACYP1_HUMAN, P07311 (See protein sequence)
Recommended Name: Acylphosphatase-1  
Size: 99 amino acids; 11261 Da
6 PDB 3D structures from and Proteopedia for ACYP1:
2K7J (3D)        2K7K (3D)        2VH7 (3D)        2W4C (3D)        2W4P (3D)        3TOQ (3D)    
Secondary accessions: A6NDV8 B2R590
Alternative splicing: 2 isoforms:  P07311-1   P07311-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ACYP1: NX_P07311

Explore proteomics data for ACYP1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys33, Lys58, Lys89
  • Modification sites at PhosphoSitePlus

  • See ACYP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001098.1  NP_982355.1  

    ENSEMBL proteins: 
     ENSP00000238618   ENSP00000450873   ENSP00000350655   ENSP00000451581   ENSP00000452249  
     ENSP00000451220  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR017968 Acylphosphatase_CS
     IPR001792 Acylphosphatase-like_dom
     IPR020456 Acylphosphatase

    Graphical View of Domain Structure for InterPro Entry P07311

    ProtoNet protein and cluster: P07311

    1 Blocks protein domain: IPB001792 Acylphosphatase

    UniProtKB/Swiss-Prot: ACYP1_HUMAN, P07311
    Similarity: Belongs to the acylphosphatase family
    Similarity: Contains 1 acylphosphatase-like domain


    Find genes that share domains with ACYP1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACYP1_HUMAN, P07311
    Function: Its physiological role is not yet clear
    Catalytic activity: An acylphosphate + H(2)O = a carboxylate + phosphate

         Genatlas biochemistry entry for ACYP1:
    acylphosphatase 1erythrocyte (common) type,11kDa

         Enzyme Number (IUBMB): EC 3.6.1.71

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003998acylphosphatase activity IBA--
         
    Find genes that share ontologies with ACYP1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ACYP1:
     Decreased focal adhesion (FA)  

    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    endoplasmic reticulum2
    nucleus1
    plasma membrane1

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ACYP1 About    
    See pathways by source

    SuperPathContained pathways About
    1Purine metabolism (KEGG)
    ATP ITP metabolism0.31
    2Pyruvate metabolism
    Pyruvate metabolism
    3Naphthalene metabolism
    Naphthalene metabolism


    Find genes that share SuperPaths with ACYP1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 GeneGo (Thomson Reuters) Pathways for ACYP1
        Naphthalene metabolism
    ATP/ITP metabolism



    1 Kegg Pathway  (Kegg details for ACYP1):
        Pyruvate metabolism

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ACYP1
    Interactions:

        Search GeneGlobe Interaction Network for ACYP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for ACYP1 (ENSP000002386184) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACSS2ENSP000003538044STRING: ENSP00000353804
    ALDH9A1ENSP000003468274STRING: ENSP00000346827
    ACOT12ENSP000003032464STRING: ENSP00000303246
    ACSS1ENSP000003169244STRING: ENSP00000316924
    ALDH1B1ENSP000003669274STRING: ENSP00000366927
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    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006796phosphate-containing compound metabolic process TAS3026468

    Find genes that share ontologies with ACYP1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ACYP1

    Selected HMDB Compounds for ACYP1 (see all 16)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Phosphoglyceric acid3-(dihydrogen phosphate)Glycerate (see all 21)820-11-1--
    Acetic acidAcetate (see all 12)64-19-7--
    AcetylphosphateAcetylphosphate (see all 4)590-54-5--
    Arachidic acidArachate (see all 10)506-30-9--
    Arachidonic acid5,8,11,14-Eicosatetraenoic acid (see all 16)506-32-1--
    Benzoic acidBenzenecarboxylate (see all 22)65-85-0--
    Glyceric acid 1,3-biphosphate1,3-Biphosphoglycerate (see all 25)1981-49-3--
    Heptadecanoic acidHeptadecanoate (see all 16)506-12-7--
    Heptadecanoyl CoAHeptadecanoyl coenzyme A (see all 19)3546-17-6--
    Myristic acid1-Tridecanecarboxylate (see all 15)544-63-8--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ACYP1 gene (2 alternative transcripts): 
    NM_001107.3  NM_203488.1  

    Unigene Cluster for ACYP1:

    Acylphosphatase 1, erythrocyte (common) type
    Hs.18573  [show with all ESTs]
    Unigene Representative Sequence: BE777513
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000238618(uc001xrg.3) ENST00000555463 ENST00000357971(uc001xrf.3)
    ENST00000555694 ENST00000555135 ENST00000553302
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    Additional mRNA sequence: 

    AK312101.1 BC035568.1 X84194.1 

    8 DOTS entries:

    DT.92420894  DT.100010212  DT.86845522  DT.120731108  DT.95262502  DT.99982686  DT.100714655  DT.87009894 

    Selected AceView cDNA sequences (see all 82):

    BX104912 R94465 AA609308 R57130 NM_001107 NM_203488 AA279554 BU743031 
    BE467248 CB305744 AI342386 BQ776048 AA234590 W80489 BM458086 AA922113 
    AI216106 CA450153 BQ574064 CA443744 BG614847 AA279555 BM718591 BC035568 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ACYP1    About this scheme

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


    ECgene alternative splicing isoforms for ACYP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ACYP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAGAAGGAA
    ACYP1 Expression
    About this image

    ACYP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACYP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.18573

    UniProtKB/Swiss-Prot: ACYP1_HUMAN, P07311
    Tissue specificity: Organ-common type isozyme is found in many different tissues

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ACYP1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acyp11 , 5 acylphosphatase 1, erythrocyte (common) type1, 5 85.86(n)1
    90.91(a)1
      12 (39.62 cM)5
    662041  NM_025421.21  NP_079697.11 
     852723985 
    chicken
    (Gallus gallus)
    Aves ACYP11 acylphosphatase 1, erythrocyte (common) type 63.3(n)
    62.63(a)
      423361  NM_001168005.2  NP_001161477.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACYP16
    acylphosphatase 1, erythrocyte (common) type
    68(a)
    1 ↔ 1
    1(22606332-22607526)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia acyp11 acylphosphatase 1, erythrocyte (common) type 64.29(n)
    70.41(a)
      548914  NM_001016160.2  NP_001016160.1 
    zebrafish
    (Danio rerio)
    Actinopterygii acyp11 acylphosphatase 1, erythrocyte (common) type 66.67(n)
    66.67(a)
      571263  NM_001122849.1  NP_001116321.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Acyp26
    CG183716
    (see all 5)
    --
    40(a)
    37(a)
    (see all 5)
    many → 1
    many → 1
    (see all 5)
    3R(11618461-11619116)
    2R(9916123-9916611)


    ENSEMBL Gene Tree for ACYP1 (if available)
    TreeFam Gene Tree for ACYP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACYP1 gene
    ACYP22  
    1 SIMAP similar gene for ACYP1 using alignment to 4 protein entries:     ACYP1_HUMAN (see all proteins):
    ACYP2

    Find genes that share paralogs with ACYP1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ACYP1 (see all 200)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2006988751,2
    --75520409(+) GAAAAA/CAAGGT 2 -- int10--------
    rs755695121,2
    C,F--75520456(+) TCAAGC/TCACTG 2 -- int11Minor allele frequency- T:0.06WA 118
    rs1150523181,2
    C,F--75520532(+) TTCACA/GTGAAG 2 -- int11Minor allele frequency- G:0.11WA 118
    rs1389974231,2
    --75520645(+) CAAAAC/GAGATG 2 -- int10--------
    rs1422680011,2
    --75520796(+) TAACCA/GGGACC 2 -- int10--------
    rs1755131,2
    C,F,H--75520806(+) CACACC/GTAAAC 2 -- int116Minor allele frequency- G:0.01EA NA MN WA CSA 496
    rs1447782331,2
    --75520911(+) GTGAAA/GCTGTC 2 -- int10--------
    rs1838626001,2
    --75521326(+) AAATTA/GCTGGA 2 -- int10--------
    rs1889531541,2
    C--75521352(+) CGTTAC/G/TGCATA 2 -- int10--------
    rs1485706791,2
    --75521491(+) AAATTA/GAGGAA 2 -- int10--------

    HapMap Linkage Disequilibrium report for ACYP1 (75519924 - 75536186 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ACYP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2677383CNV Deletion23128226
    esv29535CNV Loss19812545
    nsv510644CNV Loss20534489

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600875    OMIM disorders: --


    Find genes that share disorders with ACYP1           About GenesLikeMe


    Export disorders for ACYP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ACYP1 gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with ACYP1)
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    1. Cloning and expression of the cDNA coding for the erythrocyte isoenzyme of human acylphosphatase. (PubMed id 7796909)1, 2, 3 Fiaschi T....Ramponi G. (FEBS Lett. 1995)
    2. Assignment of the human erythrocyte acylphosphatase gene (ACYP1) to chromosome band 14q24.3. (PubMed id 9730610)1, 3, 9 Fiaschi T....Ramponi G. (Cytogenet. Cell Genet. 1998)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)1, 2 Heilig R.... Weissenbach J. (Nature 2003)
    5. A new acylphosphatase isoenzyme from human erythrocytes: purification, characterization, and primary structure. (PubMed id 3026468)1, 2 Liguri G....Ramponi G. (Biochemistry 1986)
    6. ACYP1 gene possesses two alternative splicing forms that induce apoptosis. (PubMed id 14992377)1, 9 Degl'Innocenti D....Ramponi G. (IUBMB Life 2004)
    7. Immunoaffinity purification and immunoassay determination of human erythrocyte acylphosphatase. (PubMed id 2169259)1, 9 Degl'Innocenti D....Ramponi G. (Biotechnol. Appl. Biochem. 1990)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    9. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    10. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 97 HGNC: 179 AceView: ACYP1 Ensembl:ENSG00000119640 euGenes: HUgn97
    ECgene: ACYP1 Kegg: 97 H-InvDB: ACYP1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ACYP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ACYP1 gene:
    Search GeneIP for patents involving ACYP1

    GeneCards and IP:
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