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ACYP2 acylphosphatase 2 [ Homo sapiens (human) ]

Gene ID: 98, updated on 5-Jul-2020

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
109.20200522 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 Functions

What'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 PubChem

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 Updated 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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