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ACP2 acid phosphatase 2, lysosomal [ Homo sapiens (human) ]

Gene ID: 53, updated on 1-Jun-2020

Summary

Official Symbol
ACP2provided by HGNC
Official Full Name
acid phosphatase 2, lysosomalprovided by HGNC
Primary source
HGNC:HGNC:123
See related
Ensembl:ENSG00000134575 MIM:171650
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
LAP
Summary
The protein encoded by this gene belongs to the histidine acid phosphatase family, which hydrolyze orthophosphoric monoesters to alcohol and phosphate. This protein is localized to the lysosomal membrane, and is chemically and genetically distinct from the red cell acid phosphatase. Mice lacking this gene showed multiple defects, including bone structure alterations, lysosomal storage defects, and an increased tendency towards seizures. An enzymatically-inactive allele of this gene in mice showed severe growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype. Alternatively spliced transcript variants have been found for this gene. A C-terminally extended isoform is also predicted to be produced by the use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2017]
Expression
Ubiquitous expression in duodenum (RPKM 19.4), placenta (RPKM 17.1) and 25 other tissues See more
Orthologs

Genomic context

See ACP2 in Genome Data Viewer
Location:
11p11.2; 11p12-p11
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (47239302..47248847, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (47260853..47270457, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein S20 pseudogene 26 Neighboring gene damage specific DNA binding protein 2 Neighboring gene nuclear receptor subfamily 1 group H member 3 Neighboring gene MADD antisense RNA 1 Neighboring gene MAP kinase activating death domain Neighboring gene myosin binding protein C3

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?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of acid phosphatase 2, lysosomal (ACP2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acid phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
lysosome organization IEA
Inferred from Electronic Annotation
more info
 
skeletal system development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal lumen IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 

General protein information

Preferred Names
lysosomal acid phosphatase
NP_001289418.1
NP_001289419.1
NP_001289420.1
NP_001289421.1
NP_001343945.1
NP_001601.1

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.

Genomic

  1. NG_023296.1 RefSeqGene

    Range
    5060..14605
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001302489.1NP_001289418.1  lysosomal acid phosphatase isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' terminal exon, and initiates translation at an alternate translation start codon compared to variant 1. The encoded shorter isoform (3) has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AK298439, AK308512, BC093010
    Consensus CDS
    CCDS76402.1
    UniProtKB/Swiss-Prot
    P11117
    UniProtKB/TrEMBL
    B7Z552, E9PQY3
    Related
    ENSP00000432439.1, ENST00000533929.7
    Conserved Domains (1) summary
    cd07061
    Location:11302
    HP_HAP_like; Histidine phosphatase domain found in histidine acid phosphatases and phytases; contains a His residue which is phosphorylated during the reaction
  2. NM_001302490.1NP_001289419.1  lysosomal acid phosphatase isoform 4 precursor

    See identical proteins and their annotated locations for NP_001289419.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an in-frame exon in the 5' coding region compared to variant 1. The encoded shorter isoform (4) lacks an internal protein segment compared to isoform 1.
    Source sequence(s)
    AK301860, AK308512, BC093010, DC337294
    Consensus CDS
    CCDS76403.1
    UniProtKB/Swiss-Prot
    P11117
    UniProtKB/TrEMBL
    B7Z7D2
    Related
    ENSP00000432205.1, ENST00000527256.7
    Conserved Domains (1) summary
    cl11399
    Location:37298
    HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction
  3. NM_001302491.1NP_001289420.1  lysosomal acid phosphatase isoform 5 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two consecutive in-frame exons in the 5' coding region compared to variant 1. The encoded shorter isoform (5) lacks an internal protein segment compared to isoform 1.
    Source sequence(s)
    AK298122, AK300911, BC093010, DC337294
    Consensus CDS
    CCDS76404.1
    UniProtKB/Swiss-Prot
    P11117
    UniProtKB/TrEMBL
    B7Z4Z2, B7Z6T8, E9PHY0
    Related
    ENSP00000436658.1, ENST00000529444.7
    Conserved Domains (1) summary
    cd07061
    Location:33267
    HP_HAP_like; Histidine phosphatase domain found in histidine acid phosphatases and phytases; contains a His residue which is phosphorylated during the reaction
  4. NM_001302492.1NP_001289421.1  lysosomal acid phosphatase isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an internal exon and uses an alternate acceptor splice site in the 5' region compared to variant 1. These differences result in translation initiation at an in-frame downstream start codon compared to variant 1. The encoded isoform (6) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AK300569, AK303894, AK308512, BC093010, DC337294
    UniProtKB/Swiss-Prot
    P11117
    UniProtKB/TrEMBL
    B7Z6L8, B7Z8T9
    Conserved Domains (1) summary
    cd07061
    Location:16143
    HP_HAP_like; Histidine phosphatase domain found in histidine acid phosphatases and phytases; contains a His residue which is phosphorylated during the reaction
  5. NM_001357016.1NP_001343945.1  lysosomal acid phosphatase isoform 1x precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (1) results from translation termination at the upstream UGA stop codon, while the longer isoform (1x) results from UGA stop codon readthrough to the downstream UAG termination codon. This RefSeq represents the longer isoform (1x). As the UGA stop codon has been reported to specify several alternative amino acids (tryptophan, cysteine, arginine and serine), its location in the longer isoform is denoted by an 'X'.
    Source sequence(s)
    AK308512, BC093010, DC337294
    Related
    ENSP00000500571.2, ENST00000672636.2
    Conserved Domains (1) summary
    cd07061
    Location:33330
    HP_HAP_like; Histidine phosphatase domain found in histidine acid phosphatases and phytases; contains a His residue which is phosphorylated during the reaction
  6. NM_001610.4NP_001601.1  lysosomal acid phosphatase isoform 1 precursor

    See identical proteins and their annotated locations for NP_001601.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (1) results from translation termination at the upstream UGA stop codon, while the longer isoform (1x) results from UGA stop codon readthrough to the downstream UAG termination codon. This RefSeq represents the shorter isoform (1).
    Source sequence(s)
    AC018410
    Consensus CDS
    CCDS7928.1
    UniProtKB/Swiss-Prot
    P11117
    Related
    ENSP00000500291.1, ENST00000672073.1
    Conserved Domains (1) summary
    cd07061
    Location:33330
    HP_HAP_like; Histidine phosphatase domain found in histidine acid phosphatases and phytases; contains a His residue which is phosphorylated during the reaction

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_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    47239302..47248847 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001747908.2 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001131064.1: Suppressed sequence

    Description
    NM_001131064.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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