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    ACYP1 acylphosphatase 1 [ Homo sapiens (human) ]

    Gene ID: 97, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ACYP1provided by HGNC
    Official Full Name
    acylphosphatase 1provided by HGNC
    Primary source
    HGNC:HGNC:179
    See related
    Ensembl:ENSG00000119640 MIM:600875; AllianceGenome:HGNC:179
    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
    ACYPE
    Summary
    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]
    Expression
    Ubiquitous expression in adrenal (RPKM 8.5), testis (RPKM 6.1) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ACYP1 in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (75053243..75069490, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (69262663..69278894, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (75519946..75536193, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:75469302-75469982 Neighboring gene eukaryotic translation initiation factor 2B subunit beta Neighboring gene RNA, U6 small nuclear 689, pseudogene Neighboring gene mutL homolog 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8735 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:75535987-75536538 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:75536539-75537090 Neighboring gene zinc finger C2HC-type containing 1C Neighboring gene NIMA related kinase 9 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:75565767-75565964 Neighboring gene HIF1AP pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Effects of acylphosphatase on the activity of erythrocyte membrane Ca2+ pump. Nassi P, et al. J Biol Chem, 1991 Jun 15. PMID 1645713
    2. Clinical Significance of Acylphosphatase 1 Expression in Combined HCC-iCCA, HCC, and iCCA. Sakano Y, et al. Dig Dis Sci, 2022 Aug. PMID 34626299
    3. Assignment of the human erythrocyte acylphosphatase gene (ACYP1) to chromosome band 14q24.3. Fiaschi T, et al. Cytogenet Cell Genet, 1998. PMID 9730610
    4. ACYP1 gene possesses two alternative splicing forms that induce apoptosis. Degl'Innocenti D, et al. IUBMB Life, 2004 Jan. PMID 14992377
    5. Immunoaffinity purification and immunoassay determination of human erythrocyte acylphosphatase. Degl'Innocenti D, et al. Biotechnol Appl Biochem, 1990 Aug. PMID 2169259

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical Significance of Acylphosphatase 1 Expression in Combined HCC-iCCA, HCC, and iCCA.
      Title: Clinical Significance of Acylphosphatase 1 Expression in Combined HCC-iCCA, HCC, and iCCA.
    2. two products of the ACYP1 gene are characterized as the result of alternative splicing in which an extra 79 bp long exon is inserted between the two known exons
      Title: ACYP1 gene possesses two alternative splicing forms that induce apoptosis.
    3. Data show that CT acylphosphatase catalyzes the hydrolysis of aryl phosphates and acyl phosphates by two different mechanisms.
      Title: A nucleophilic catalysis step is involved in the hydrolysis of aryl phosphate monoesters by human CT acylphosphatase.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acylphosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in phosphate-containing compound metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    acylphosphatase-1
    Names
    acylphosphatase 1, erythrocyte (common) type
    acylphosphatase, erythrocyte isozyme
    acylphosphatase, organ-common type isozyme
    acylphosphate phosphohydrolase 1
    NP_001098.1
    NP_001289545.1
    NP_001289546.1

    NCBI Reference Sequences (RefSeq)

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    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_001107.5 → NP_001098.1  acylphosphatase-1 isoform a

      See identical proteins and their annotated locations for NP_001098.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform a. Both variants 1 and 3 encode the same protein.
      Source sequence(s)
      AK312101, BC035568, X84194
      Consensus CDS
      CCDS9838.1
      UniProtKB/Swiss-Prot
      A6NDV8, B2R590, P07311
      Related
      ENSP00000238618.3, ENST00000238618.8
      Conserved Domains (1) summary
      pfam00708
      Location:10 → 97
      Acylphosphatase

    2. NM_001302616.2 → NP_001289545.1  acylphosphatase-1 isoform a

      See identical proteins and their annotated locations for NP_001289545.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Both variants 1 and 3 encode the same protein.
      Source sequence(s)
      AK312101, BC035568, BP316920, X84194
      Consensus CDS
      CCDS9838.1
      UniProtKB/Swiss-Prot
      A6NDV8, B2R590, P07311
      Related
      ENSP00000451581.1, ENST00000555694.5
      Conserved Domains (1) summary
      pfam00708
      Location:10 → 97
      Acylphosphatase

    3. NM_001302617.2 → NP_001289546.1  acylphosphatase-1 isoform c precursor

      See identical proteins and their annotated locations for NP_001289546.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an upstream alternate 5' terminal exon and lacks an alternate exon, compared to variant 1. The encoded isoform (c) has a longer N-terminus, compared to isoform a.
      Source sequence(s)
      AL049780, BX104912, CD675334
      Consensus CDS
      CCDS76706.1
      UniProtKB/TrEMBL
      G3V2U7
      Related
      ENSP00000450873.1, ENST00000555463.1
      Conserved Domains (1) summary
      pfam00708
      Location:40 → 127
      Acylphosphatase

    RNA

    1. NR_126393.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the central region compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AK312101, BG614847, BX104912
      Related
      ENST00000357971.7

    2. NR_126394.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an upstream alternate 5' terminal exon and lacks two alternate exons, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AL049780, BX104912, CD675334, HY012032

    3. NR_126395.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an exon in the 5' region compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AK312101, AL049780, BX104912

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      75053243..75069490 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      69262663..69278894 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_203488.1: Suppressed sequence

      Description
      NM_203488.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P07311.2 GenPept UniProtKB/Swiss-Prot:P07311

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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