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ACYP1 acylphosphatase 1 [ Homo sapiens (human) ]

Gene ID: 97, updated on 2-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (75053243..75069490, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (69262663..69278894, complement)
105.20220307 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
  • 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. Clinical Significance of Acylphosphatase 1 Expression in Combined HCC-iCCA, HCC, and iCCA. Sakano Y, et al. Dig Dis Sci, 2022 Aug. PMID 34626299
  2. ACYP1 gene possesses two alternative splicing forms that induce apoptosis. Degl'Innocenti D, et al. IUBMB Life, 2004 Jan. PMID 14992377
  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. Immunoaffinity purification and immunoassay determination of human erythrocyte acylphosphatase. Degl'Innocenti D, et al. Biotechnol Appl Biochem, 1990 Aug. PMID 2169259
  5. Effects of acylphosphatase on the activity of erythrocyte membrane Ca2+ pump. Nassi P, et al. J Biol Chem, 1991 Jun 15. PMID 1645713

See all (22) 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_2023_10

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

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