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ACYP1 acylphosphatase 1 [ Homo sapiens (human) ]

Gene ID: 97, updated on 10-Jan-2019

Summary

Official Symbol
ACYP1provided by HGNC
Official Full Name
acylphosphatase 1provided by HGNC
Primary source
HGNC:HGNC:179
See related
Ensembl:ENSG00000119640 MIM:600875
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

Genomic context

See ACYP1 in Genome Data Viewer
Location:
14q24.3
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (75053221..75069483, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (75519924..75536181, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 2B subunit beta Neighboring gene RNA, U6 small nuclear 689, pseudogene Neighboring gene mutL homolog 3 Neighboring gene zinc finger C2HC-type containing 1C Neighboring gene NIMA related kinase 9 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 FunctionsWhat's a GeneRIF?

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 
Process Evidence Code Pubs
phosphate-containing compound metabolic process TAS
Traceable Author Statement
more info
PubMed 

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)

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
    P07311
    Related
    ENSP00000238618.3, ENST00000238618.7
    Conserved Domains (1) summary
    pfam00708
    Location:1097
    Acylphosphatase; Acylphosphatase
  2. NM_001302616.1NP_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, BE467248, BP316920, DB071115, X84194
    Consensus CDS
    CCDS9838.1
    UniProtKB/Swiss-Prot
    P07311
    Related
    ENSP00000451581.1, ENST00000555694.5
    Conserved Domains (1) summary
    pfam00708
    Location:1097
    Acylphosphatase; Acylphosphatase
  3. NM_001302617.1NP_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)
    BE467248, BX104912, CD675334
    Consensus CDS
    CCDS76706.1
    UniProtKB/TrEMBL
    G3V2U7
    Related
    ENSP00000450873.1, ENST00000555463.1
    Conserved Domains (1) summary
    pfam00708
    Location:40127
    Acylphosphatase; Acylphosphatase

RNA

  1. NR_126393.1 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, BE467248, BG614847, BX104912, DB071115
    Related
    ENST00000357971.7
  2. NR_126394.1 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, BE467248, BX104912, CD675334, HY012032
  3. NR_126395.1 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, BE467248, BX104912, DB071115

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.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    75053221..75069483 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.
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