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ACP4 acid phosphatase 4 [ Homo sapiens (human) ]

Gene ID: 93650, updated on 2-Nov-2024

Summary

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Official Symbol
ACP4provided by HGNC
Official Full Name
acid phosphatase 4provided by HGNC
Primary source
HGNC:HGNC:14376
See related
Ensembl:ENSG00000142513 MIM:606362; AllianceGenome:HGNC:14376
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
ACPT; AI1J
Summary
Acid phosphatases are enzymes capable of hydrolyzing orthophosphoric acid esters in an acid medium. This gene is up-regulated by androgens and is down-regulated by estrogens in the prostate cancer cell line. This gene exhibits a lower level of expression in testicular cancer tissues than in normal tissues. The protein encoded by this gene has structural similarity to prostatic and lysosomal acid phosphatases. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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See ACP4 in Genome Data Viewer
Location:
19q13.33
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (50790415..50795219)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (53879904..53884708)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (51293672..51298476)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene G protein-coupled receptor 32 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51280870-51281694 Neighboring gene origin of replication 20mer1 Neighboring gene Sharpr-MPRA regulatory region 1509 Neighboring gene uncharacterized LOC105372439 Neighboring gene small integral membrane protein 47 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14996 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14997 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10977 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14998 Neighboring gene multidrug resistance-related protein Neighboring gene small nucleolar RNA, C/D box 88B Neighboring gene small nucleolar RNA, C/D box 88A

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. Recessive Mutations in ACP4 Cause Amelogenesis Imperfecta. Kim YJ, et al. J Dent Res, 2022 Jan. PMID 34036831, Free PMC Article
  2. Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta. Smith CE, et al. Eur J Hum Genet, 2017 Aug. PMID 28513613, Free PMC Article
  3. Molecular cloning of a novel human acid phosphatase gene (ACPT) that is highly expressed in the testis. Yousef GM, et al. Genomics, 2001 Jun 15. PMID 11414767
  4. Enamel defects in Acp4(R110C/R110C) mice and human ACP4 mutations. Liang T, et al. Sci Rep, 2022 Oct 1. PMID 36183038, Free PMC Article
  5. Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta. Seymen F, et al. Am J Hum Genet, 2016 Nov 3. PMID 27843125, Free PMC Article

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Enamel defects in Acp4(R110C/R110C) mice and human ACP4 mutations.
    Title: Enamel defects in Acp4(R110C/R110C) mice and human ACP4 mutations.
  2. Recessive Mutations in ACP4 Cause Amelogenesis Imperfecta.
    Title: Recessive Mutations in ACP4 Cause Amelogenesis Imperfecta.
  3. ACPT missense mutation segregates with hypoplastic amelogenesis imperfecta in two unrelated families.
    Title: Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta.
  4. ACPT biallelic mutations caused non-syndromic, generalized hypoplastic autosomal-recessive amelogenesis imperfecta in individuals from six unrelated Turkish families. Analysis of the ACPT crystal structure suggests that these mutations damaged the activity of ACPT by altering the sizes and charges of key amino acid side chains, limiting accessibility of the catalytic core, and interfering with homodimerization.
    Title: Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta.
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

Associated conditions

Description Tests
Amelogenesis imperfecta, type 1J
MedGen: C4310630 OMIM: 617297 GeneReviews: Not available
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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

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 acid phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein tyrosine phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein tyrosine phosphatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables receptor tyrosine kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables receptor tyrosine kinase binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of ERBB4 signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of ERBB4 signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of neuron projection development IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of protein processing IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in odontogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of neuronal synaptic plasticity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of neuronal synaptic plasticity IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
is_active_in lysosome IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in postsynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
testicular acid phosphatase
Names
acid phosphatase, testicular
NP_149059.1

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.

Genomic

  1. NG_052652.1 RefSeqGene

    Range
    5001..9805
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_033068.3 → NP_149059.1  testicular acid phosphatase precursor

    See identical proteins and their annotated locations for NP_149059.1

    Status: REVIEWED

    Source sequence(s)
    AC010325
    Consensus CDS
    CCDS12802.1
    UniProtKB/Swiss-Prot
    C0H3P7, Q9BZG2, Q9BZG3, Q9BZG4
    Related
    ENSP00000270593.1, ENST00000270593.2
    Conserved Domains (1) summary
    cd07061
    Location:32 → 316
    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: 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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    50790415..50795219
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    53879904..53884708
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_080789.1: Suppressed sequence

    Description
    NM_080789.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

  2. NM_080790.1: Suppressed sequence

    Description
    NM_080790.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

  3. NM_080791.1: Suppressed sequence

    Description
    NM_080791.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BZG2.1 GenPept UniProtKB/Swiss-Prot:Q9BZG2

Gene LinkOut

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