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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
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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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