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    ACYP2 acylphosphatase 2 [ Homo sapiens (human) ]

    Gene ID: 98, updated on 17-Jun-2019

    Summary

    Official Symbol
    ACYP2provided by HGNC
    Official Full Name
    acylphosphatase 2provided by HGNC
    Primary source
    HGNC:HGNC:180
    See related
    Ensembl:ENSG00000170634 MIM:102595
    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
    ACYM; ACYP
    Summary
    Acylphosphatase can hydrolyze the phosphoenzyme intermediate of different membrane pumps, particularly the Ca2+/Mg2+-ATPase from sarcoplasmic reticulum of skeletal muscle. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte acylphosphatase on the basis of their tissue localization. This gene encodes the muscle-type isoform (MT). An increase of the MT isoform is associated with muscle differentiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
    Expression
    Ubiquitous expression in brain (RPKM 3.1), heart (RPKM 2.8) and 25 other tissues See more
    Orthologs

    Genomic context

    See ACYP2 in Genome Data Viewer
    Location:
    2p16.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (53970838..54305300)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (54342410..54532437)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene GPR75-ASB3 readthrough Neighboring gene microRNA 3682 Neighboring gene G protein-coupled receptor 75 Neighboring gene proteasome activator subunit 4 Neighboring gene ribosomal protein L21 pseudogene 30 Neighboring gene high mobility group box 1 pseudogene 31 Neighboring gene uncharacterized LOC105374615 Neighboring gene RNA, U7 small nuclear 172 pseudogene Neighboring gene uncharacterized LOC105374610 Neighboring gene TSPY like 6 Neighboring gene chromosome 2 open reading frame 73 Neighboring gene uncharacterized LOC102724072

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
    NHGRI GWA Catalog
    Identification of seven loci affecting mean telomere length and their association with disease.
    NHGRI GWA Catalog

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    acylphosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    phosphate-containing compound metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    acylphosphatase-2
    Names
    acylphosphatase 2, muscle type
    acylphosphatase, muscle type isozyme
    acylphosphate phosphohydrolase 2
    testicular tissue protein Li 11
    NP_001307515.1
    NP_001307516.1
    NP_001307517.1
    NP_001307518.1
    NP_001307519.1
    NP_612457.1
    XP_016860895.1
    XP_016860896.1
    XP_016860897.1
    XP_016860898.1
    XP_016860899.1
    XP_016860900.1
    XP_016860901.1
    XP_016860902.1

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_001320586.2NP_001307515.1  acylphosphatase-2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BU543943, CA308062
      Consensus CDS
      CCDS82452.1
      UniProtKB/TrEMBL
      U3KQL2
      Related
      ENSP00000475986.1, ENST00000607452.6
      Conserved Domains (1) summary
      pfam00708
      Location:94171
      Acylphosphatase; Acylphosphatase
    2. NM_001320587.2NP_001307516.1  acylphosphatase-2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      BG741807, CA308062
      Conserved Domains (1) summary
      pfam00708
      Location:63140
      Acylphosphatase; Acylphosphatase
    3. NM_001320588.2NP_001307517.1  acylphosphatase-2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region compared to variant 1. The resulting isoform (4) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC008280, BF671963, CA308062
      Conserved Domains (1) summary
      cl00551
      Location:174
      Acylphosphatase; Acylphosphatase
    4. NM_001320589.2NP_001307518.1  acylphosphatase-2 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate 3' exon and represents use of an alternate promoter, therefore differing in the 5' UTR and 5' coding region compared to variant 1. The resulting isoform (5) has shorter and distinct N- and C-termini compared to isoform 1.
      Source sequence(s)
      BU857820, CA308062
      Conserved Domains (1) summary
      pfam00708
      Location:862
      Acylphosphatase; Acylphosphatase
    5. NM_001320590.2NP_001307519.1  acylphosphatase-2 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 3' UTR and coding sequence and represents use of an alternate promoter, therefore differing in the 5' UTR and 5' coding region compared to variant 1. The resulting isoform (6) has shorter and distinct N- and C-termini compared to isoform 1.
      Source sequence(s)
      AC008280, AK307096
      Conserved Domains (1) summary
      pfam00708
      Location:864
      Acylphosphatase; Acylphosphatase
    6. NM_138448.4NP_612457.1  acylphosphatase-2 isoform 3

      See identical proteins and their annotated locations for NP_612457.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      BC012290, CA308062
      Consensus CDS
      CCDS1850.1
      UniProtKB/Swiss-Prot
      P14621
      UniProtKB/TrEMBL
      A0A140VJD7
      Related
      ENSP00000378161.3, ENST00000394666.7
      Conserved Domains (1) summary
      pfam00708
      Location:1097
      Acylphosphatase; Acylphosphatase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      53970838..54305300
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017005413.1XP_016860902.1  acylphosphatase-2 isoform X8

    2. XM_017005412.1XP_016860901.1  acylphosphatase-2 isoform X7

    3. XM_017005411.1XP_016860900.1  acylphosphatase-2 isoform X6

    4. XM_017005406.1XP_016860895.1  acylphosphatase-2 isoform X1

    5. XM_017005407.1XP_016860896.1  acylphosphatase-2 isoform X2

    6. XM_017005409.1XP_016860898.1  acylphosphatase-2 isoform X4

    7. XM_017005408.1XP_016860897.1  acylphosphatase-2 isoform X3

    8. XM_017005410.1XP_016860899.1  acylphosphatase-2 isoform X5

    RNA

    1. XR_001739083.1 RNA Sequence

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