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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
    mouse all
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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
    		not available

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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