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    ACYP1 acylphosphatase 1 [ Homo sapiens (human) ]

    Gene ID: 97, updated on 9-Dec-2024

    Summary

    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
    NEW
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    Genomic context

    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

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    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)

    NEW Try the new Transcript table

    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_001107.5NP_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:1097
      Acylphosphatase
    2. NM_001302616.2NP_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:1097
      Acylphosphatase
    3. NM_001302617.2NP_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:40127
      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.