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    ACP7 acid phosphatase 7, tartrate resistant (putative) [ Homo sapiens (human) ]

    Gene ID: 390928, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ACP7provided by HGNC
    Official Full Name
    acid phosphatase 7, tartrate resistant (putative)provided by HGNC
    Primary source
    HGNC:HGNC:33781
    See related
    Ensembl:ENSG00000183760 MIM:610490; AllianceGenome:HGNC:33781
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PAPL; PAPL1
    Summary
    Purple acid phosphatases (PAPs), including PAPL, are a family of binuclear metallohydrolases that have been identified in plants, animals, and fungi (Flanagan et al., 2006 [PubMed 16793224]).[supplied by OMIM, Mar 2008]
    Expression
    Biased expression in skin (RPKM 2.2), brain (RPKM 0.3) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See ACP7 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (39083788..39111493)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (41887741..41915473)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (39575008..39602133)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14608 Neighboring gene F-box protein 27 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14610 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:39521986-39522168 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39522284-39523076 Neighboring gene uncharacterized LOC124904801 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14611 Neighboring gene NANOG hESC enhancer GRCh37_chr19:39549145-39549646 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:39564087-39565286 Neighboring gene Sharpr-MPRA regulatory region 11111 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39574861-39575361 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14612 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39622545-39623126 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39623127-39623707 Neighboring gene uncharacterized LOC124904714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39625781-39626526 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39629677-39630266 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39634730-39635726 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39635727-39636721 Neighboring gene p21 (RAC1) activated kinase 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39641079-39641580 Neighboring gene uncharacterized LOC124904716 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39647059-39647724

    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. Identification and molecular modeling of a novel, plant-like, human purple acid phosphatase. Flanagan JU, et al. Gene, 2006 Aug 1. PMID 16793224
    2. Role of IFN-ks, IFN-ks related genes and the DEPDC5 gene in Hepatitis B virus-related liver disease. Ma N, et al. J Viral Hepat, 2014 Jul. PMID 25032264
    3. Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. Sim X, et al. PLoS Genet, 2011 Apr. PMID 21490949, Free PMC Article
    4. Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development. Wang P, et al. J Clin Invest, 2019 Jul 25. PMID 31343991, Free PMC Article
    5. Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism. Antoniali G, et al. Nat Commun, 2017 Oct 6. PMID 28986522, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PAPL, IL10RB and DEPDC5 polymorphisms have an impact on progression of hepatitis B virus-related liver disease.
      Title: Role of IFN-ks, IFN-ks related genes and the DEPDC5 gene in Hepatitis B virus-related liver disease.
    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

    EBI GWAS Catalog

    Description
    Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.
    EBI GWAS Catalog

    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

    Clone Names

    • FLJ16165

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acid phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    acid phosphatase type 7
    Names
    iron/zinc purple acid phosphatase-like protein
    purple acid phosphatase long form 1
    NP_001004318.2
    NP_001350616.1
    XP_011525268.1
    XP_011525269.1
    XP_011525271.1
    XP_016882296.1
    XP_047294780.1
    XP_047294781.1
    XP_047294782.1
    XP_047294783.1
    XP_047294784.1
    XP_047294785.1
    XP_054176976.1
    XP_054176977.1
    XP_054176978.1
    XP_054176979.1
    XP_054176980.1
    XP_054176981.1
    XP_054176982.1
    XP_054176983.1
    XP_054176984.1
    XP_054176985.1
    XP_054176986.1

    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.

    mRNA and Protein(s)

    1. NM_001004318.3 → NP_001004318.2  acid phosphatase type 7 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001004318.2

      Status: VALIDATED

      Source sequence(s)
      AC011443, AK131245, BC142613
      Consensus CDS
      CCDS33018.1
      UniProtKB/Swiss-Prot
      B2RN68, Q6ZNF0
      Related
      ENSP00000327557.4, ENST00000331256.10
      Conserved Domains (2) summary
      cd00839
      Location:131 → 429
      MPP_PAPs; purple acid phosphatases of the metallophosphatase superfamily, metallophosphatase domain
      pfam16656
      Location:34 → 124
      Pur_ac_phosph_N; Purple acid Phosphatase, N-terminal domain

    2. NM_001363687.2 → NP_001350616.1  acid phosphatase type 7 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC011443
      Consensus CDS
      CCDS86764.1
      UniProtKB/TrEMBL
      M0QXC1, M0R045
      Related
      ENSP00000470989.1, ENST00000594229.1
      Conserved Domains (2) summary
      pfam16656
      Location:34 → 124
      Pur_ac_phosph_N; Purple acid Phosphatase, N-terminal domain
      cl13995
      Location:131 → 168
      MPP_superfamily; metallophosphatase superfamily, metallophosphatase domain

    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
      39083788..39111493
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017026807.3 → XP_016882296.1  acid phosphatase type 7 isoform X1

      UniProtKB/Swiss-Prot
      B2RN68, Q6ZNF0
      Conserved Domains (2) summary
      cd00839
      Location:131 → 429
      MPP_PAPs; purple acid phosphatases of the metallophosphatase superfamily, metallophosphatase domain
      pfam16656
      Location:34 → 124
      Pur_ac_phosph_N; Purple acid Phosphatase, N-terminal domain

    2. XM_047438824.1 → XP_047294780.1  acid phosphatase type 7 isoform X2

    3. XM_011526966.4 → XP_011525268.1  acid phosphatase type 7 isoform X1

      See identical proteins and their annotated locations for XP_011525268.1

      UniProtKB/Swiss-Prot
      B2RN68, Q6ZNF0
      Conserved Domains (2) summary
      cd00839
      Location:131 → 429
      MPP_PAPs; purple acid phosphatases of the metallophosphatase superfamily, metallophosphatase domain
      pfam16656
      Location:34 → 124
      Pur_ac_phosph_N; Purple acid Phosphatase, N-terminal domain

    4. XM_047438825.1 → XP_047294781.1  acid phosphatase type 7 isoform X2

    5. XM_011526967.4 → XP_011525269.1  acid phosphatase type 7 isoform X2

      Conserved Domains (3) summary
      cd00839
      Location:131 → 371
      MPP_PAPs; purple acid phosphatases of the metallophosphatase superfamily, metallophosphatase domain
      pfam00149
      Location:135 → 337
      Metallophos; Calcineurin-like phosphoesterase
      pfam16656
      Location:32 → 124
      Pur_ac_phosph_N; Purple acid Phosphatase, N-terminal domain

    6. XM_011526969.3 → XP_011525271.1  acid phosphatase type 7 isoform X4

      Conserved Domains (2) summary
      cd00839
      Location:131 → 269
      MPP_PAPs; purple acid phosphatases of the metallophosphatase superfamily, metallophosphatase domain
      pfam16656
      Location:32 → 124
      Pur_ac_phosph_N; Purple acid Phosphatase, N-terminal domain

    7. XM_047438827.1 → XP_047294783.1  acid phosphatase type 7 isoform X5

    8. XM_047438826.1 → XP_047294782.1  acid phosphatase type 7 isoform X3

    9. XM_047438828.1 → XP_047294784.1  acid phosphatase type 7 isoform X5

    10. XM_047438829.1 → XP_047294785.1  acid phosphatase type 7 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      41887741..41915473
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321002.1 → XP_054176977.1  acid phosphatase type 7 isoform X1

      UniProtKB/Swiss-Prot
      B2RN68, Q6ZNF0

    2. XM_054321005.1 → XP_054176980.1  acid phosphatase type 7 isoform X2

    3. XM_054321001.1 → XP_054176976.1  acid phosphatase type 7 isoform X1

      UniProtKB/Swiss-Prot
      B2RN68, Q6ZNF0

    4. XM_054321006.1 → XP_054176981.1  acid phosphatase type 7 isoform X2

    5. XM_054321004.1 → XP_054176979.1  acid phosphatase type 7 isoform X2

    6. XM_054321008.1 → XP_054176983.1  acid phosphatase type 7 isoform X4

    7. XM_054321009.1 → XP_054176984.1  acid phosphatase type 7 isoform X5

    8. XM_054321007.1 → XP_054176982.1  acid phosphatase type 7 isoform X3

    9. XM_054321003.1 → XP_054176978.1  acid phosphatase type 7 isoform X1

      UniProtKB/Swiss-Prot
      B2RN68, Q6ZNF0

    10. XM_054321010.1 → XP_054176985.1  acid phosphatase type 7 isoform X5

    11. XM_054321011.1 → XP_054176986.1  acid phosphatase type 7 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZNF0.2 GenPept UniProtKB/Swiss-Prot:Q6ZNF0

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