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Aliases for ACP4 Gene

Aliases for ACP4 Gene

  • Acid Phosphatase 4 2 3 4 5
  • Acid Phosphatase, Testicular 2 3
  • Testicular Acid Phosphatase 2 3
  • ACPT 3 4
  • EC 3.1.3.2 4
  • AI1J 3

External Ids for ACP4 Gene

Previous HGNC Symbols for ACP4 Gene

  • ACPT

Summaries for ACP4 Gene

Entrez Gene Summary for ACP4 Gene

  • 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]

GeneCards Summary for ACP4 Gene

ACP4 (Acid Phosphatase 4) is a Protein Coding gene. Diseases associated with ACP4 include Amelogenesis Imperfecta, Type Ij and Hypoplastic Amelogenesis Imperfecta. An important paralog of this gene is ACP2.

UniProtKB/Swiss-Prot for ACP4 Gene

  • May dephosphorylate receptor tyrosine-protein kinase ERBB4 and inhibits its ligand-induced proteolytic cleavage (PubMed:15219672). May play a role in odontogenesis (PubMed:27843125).

Additional gene information for ACP4 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACP4 Gene

Genomics for ACP4 Gene

GeneHancer (GH) Regulatory Elements for ACP4 Gene

Promoters and enhancers for ACP4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J050777 Promoter/Enhancer 1.3 EPDnew ENCODE 655.3 -12.4 -12436 0.2 ATF1 NFIB SIN3A ZNF335 EGR1 ZNF366 FOS EGR2 CEBPB ZNF217 ACP4 LOC105372440 GPR32 ENSG00000261341
GH19J050383 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 8.3 -405.8 -405791 3.2 HDGF PKNOX1 CLOCK SMAD1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLD1 NUP62 C19orf81 PTOV1-AS2 PNKP SNORD35A SNORD35B IRF3 ALDH16A1 PRR12
GH19J050802 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 8.3 +13.9 13868 4.2 HDGF HNRNPUL1 PKNOX1 SMAD1 ARNT ARID4B NEUROD1 SIN3A FEZF1 DMAP1 C19orf48 GC19M050833 GC19M050843 SNORD88C POLD1 PTOV1-AS2 NUP62 PNKP ZNF175 CTU1
GH19J050783 Enhancer 0.9 Ensembl ENCODE 8.8 -6.6 -6573 0.3 CTCF RB1 RAD21 RFX5 CC2D1A POLR2A BRD9 ARID2 SMC3 ZNF143 ACP4 LOC105372440 ENSG00000261341 GPR32
GH19J050786 Promoter 0.6 EPDnew 8.7 -4.2 -4235 0.1 RFX1 LOC105372440 GC19P050788 GC19P050787 ACP4 ENSG00000261341 GPR32
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ACP4 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ACP4 Gene

Genomic Locations for ACP4 Gene
chr19:50,790,415-50,795,224
(GRCh38/hg38)
Size:
4,810 bases
Orientation:
Plus strand
chr19:51,293,672-51,298,481
(GRCh37/hg19)

Genomic View for ACP4 Gene

Genes around ACP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACP4 Gene

Proteins for ACP4 Gene

  • Protein details for ACP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZG2-PPAT_HUMAN
    Recommended name:
    Testicular acid phosphatase
    Protein Accession:
    Q9BZG2
    Secondary Accessions:
    • C0H3P7
    • Q9BZG3
    • Q9BZG4

    Protein attributes for ACP4 Gene

    Size:
    426 amino acids
    Molecular mass:
    46090 Da
    Quaternary structure:
    • Homodimer.

    Alternative splice isoforms for ACP4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACP4 Gene

Post-translational modifications for ACP4 Gene

Other Protein References for ACP4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ACP4 Gene

Domains & Families for ACP4 Gene

Gene Families for ACP4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for ACP4 Gene

Suggested Antigen Peptide Sequences for ACP4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BZG2

UniProtKB/Swiss-Prot:

PPAT_HUMAN :
  • Belongs to the histidine acid phosphatase family.
Family:
  • Belongs to the histidine acid phosphatase family.
genes like me logo Genes that share domains with ACP4: view

Function for ACP4 Gene

Molecular function for ACP4 Gene

UniProtKB/Swiss-Prot Function:
May dephosphorylate receptor tyrosine-protein kinase ERBB4 and inhibits its ligand-induced proteolytic cleavage (PubMed:15219672). May play a role in odontogenesis (PubMed:27843125).
UniProtKB/Swiss-Prot CatalyticActivity:
A phosphate monoester + H(2)O = an alcohol + phosphate.
UniProtKB/Swiss-Prot Induction:
Up-regulated by mibolerone (a synthetic androgen) and dihydrotestosterone (DHT) and is down-regulated by estrogen and progestin.

Enzyme Numbers (IUBMB) for ACP4 Gene

Gene Ontology (GO) - Molecular Function for ACP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003993 acid phosphatase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ACP4: view
genes like me logo Genes that share phenotypes with ACP4: view

Human Phenotype Ontology for ACP4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for ACP4 Gene

miRTarBase miRNAs that target ACP4

Clone Products

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for ACP4 Gene

Localization for ACP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACP4 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACP4 gene
Compartment Confidence
plasma membrane 2
endoplasmic reticulum 2
extracellular 1

Gene Ontology (GO) - Cellular Components for ACP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ACP4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACP4 Gene

Pathways & Interactions for ACP4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ACP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016311 dephosphorylation IEA --
GO:0042476 odontogenesis IMP 27843125
genes like me logo Genes that share ontologies with ACP4: view

No data available for Pathways by source and SIGNOR curated interactions for ACP4 Gene

Drugs & Compounds for ACP4 Gene

(8) Drugs for ACP4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Flavin Mononucleotide Approved, Investigational Pharma 8
Isopropyl alcohol Approved, Investigational Pharma 0
Phosphoric acid Approved Pharma 0
Propyl alcohol Approved, Experimental Pharma 0
Water Approved Pharma 0

(4) Additional Compounds for ACP4 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Hexanol
  • 1-Hexyl alcohol
  • 1-Hydroxyhexane
  • Caproic alcohol
  • Hexanol
  • N-Hexyl alcohol
111-27-3
1-Pentanol
  • 1-Pentol
  • 1-Pentyl alcohol
  • Alcool amylique
  • Amyl alcohol, normal
  • Amylalkohol
71-41-0
Isobutanol
  • 1-Hydroxymethylpropane
  • 2-Methyl-1-propanol
  • 2-Methylpropanol
  • I-butanol
  • I-butyl alcohol
78-83-1
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14265-44-2
genes like me logo Genes that share compounds with ACP4: view

Transcripts for ACP4 Gene

mRNA/cDNA for ACP4 Gene

(9) Selected AceView cDNA sequences:
(4) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACP4 Gene

No ASD Table

Relevant External Links for ACP4 Gene

GeneLoc Exon Structure for
ACP4
ECgene alternative splicing isoforms for
ACP4

Expression for ACP4 Gene

NURSA nuclear receptor signaling pathways regulating expression of ACP4 Gene:

ACP4

mRNA Expression by UniProt/SwissProt for ACP4 Gene:

Q9BZG2-PPAT_HUMAN
Tissue specificity: Expressed mainly in the testis. Also expressed in the brain where they are enriched at the postsynaptic sites. Expressed at lower levels in the trachea, prostate, bone marrow, spinal cord, colon, fetal brain, heart, thymus, fetal liver, spleen, leukocytes, ovary, small intestine, pancreas and skeletal muscle. Expression is significantly lower in testicular cancer tissues than in normal testicular tissues. Isoform 3 is expressed in the testis, trachea, prostate and bone marrow.

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACP4 Gene

Orthologs for ACP4 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACP4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACPT 34 33
  • 99.62 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ACPT 34 33
  • 86.9 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ACPT 34 33
  • 85.49 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Acpt 34 33
  • 83.29 (n)
OneToOne
Acp4 16
rat
(Rattus norvegicus)
Mammalia Acpt 33
  • 82.84 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACPT 34
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACPT 34
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494856 33
  • 59.57 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9449 34
  • 28 (a)
ManyToMany
Acph-1 34
  • 28 (a)
ManyToMany
CG6656 34
  • 27 (a)
ManyToMany
CG9451 34
  • 26 (a)
ManyToMany
CG9452 34
  • 25 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea pho-5 34
  • 29 (a)
ManyToMany
pho-14 34
  • 28 (a)
ManyToMany
pho-12 34
  • 27 (a)
ManyToMany
pho-10 34
  • 25 (a)
ManyToMany
pho-11 34
  • 23 (a)
ManyToMany
C27A2.12 34
  • 23 (a)
ManyToMany
acp-5 34
  • 22 (a)
ManyToMany
pho-1 34
  • 22 (a)
ManyToMany
F26C11.1 34
  • 22 (a)
ManyToMany
pho-13 34
  • 22 (a)
ManyToMany
pho-4 34
  • 22 (a)
ManyToMany
acp-2 34
  • 20 (a)
ManyToMany
acp-1 34
  • 20 (a)
ManyToMany
acp-3 34
  • 20 (a)
ManyToMany
acp-4 34
  • 19 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 31 (a)
OneToMany
Species where no ortholog for ACP4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for ACP4 Gene

ENSEMBL:
Gene Tree for ACP4 (if available)
TreeFam:
Gene Tree for ACP4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACP4: view image

Paralogs for ACP4 Gene

Paralogs for ACP4 Gene

genes like me logo Genes that share paralogs with ACP4: view

Variants for ACP4 Gene

Sequence variations from dbSNP and Humsavar for ACP4 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1057519277 imperfecta 1J (AI1J) [MIM:617297], pathogenic, Amelogenesis imperfecta, type IJ 50,790,783(+) C/G/T coding_sequence_variant, missense_variant
rs1085307111 pathogenic, Amelogenesis imperfecta, type IJ 50,793,784(+) C/T coding_sequence_variant, missense_variant
rs202073531 pathogenic, Amelogenesis imperfecta, type IJ, Amelogenesis imperfecta 1J (AI1J) [MIM:617297] 50,791,683(+) C/T coding_sequence_variant, missense_variant
rs546603773 pathogenic, Amelogenesis imperfecta, type IJ 50,791,780(+) C/A/G/T coding_sequence_variant, missense_variant
rs763573828 pathogenic, Amelogenesis imperfecta, type IJ, Amelogenesis imperfecta 1J (AI1J) [MIM:617297] 50,793,751(+) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for ACP4 Gene

Variant ID Type Subtype PubMed ID
nsv1140251 OTHER inversion 24896259

Variation tolerance for ACP4 Gene

Residual Variation Intolerance Score: 19.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.53; 88.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACP4 Gene

Human Gene Mutation Database (HGMD)
ACP4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACP4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACP4 Gene

Disorders for ACP4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ACP4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
amelogenesis imperfecta, type ij
  • ai1j
hypoplastic amelogenesis imperfecta
  • amelogenesis imperfecta type 1
testicular cancer
  • childhood neoplasm of the testis
- elite association - COSMIC cancer census association via MalaCards
Search ACP4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PPAT_HUMAN
  • Amelogenesis imperfecta 1J (AI1J) [MIM:617297]: A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. AI1J is an autosomal recessive form characterized by hypoplastic enamel, enamel discolorization ranging from yellow to black, and normal dentin. {ECO:0000269 PubMed:27843125}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ACP4

genes like me logo Genes that share disorders with ACP4: view

No data available for Genatlas for ACP4 Gene

Publications for ACP4 Gene

  1. Molecular cloning of a novel human acid phosphatase gene (ACPT) that is highly expressed in the testis. (PMID: 11414767) Yousef GM … Diamandis EP (Genomics 2001) 2 3 4 22 58
  2. Regulation of ErbB4 phosphorylation and cleavage by a novel histidine acid phosphatase. (PMID: 15219672) Fleisig H … Vincent SR (Neuroscience 2004) 3 4 22 58
  3. Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta. (PMID: 27843125) Seymen F … Kim JW (American journal of human genetics 2016) 3 4 58
  4. Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta. (PMID: 28513613) Smith CE … Mighell AJ (European journal of human genetics : EJHG 2017) 3 58

Products for ACP4 Gene

Sources for ACP4 Gene

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