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UniProtKB - Q9BZG2 (PPAT_HUMAN)
Protein
Testicular acid phosphatase
Gene
ACP4
Organism
Homo sapiens (Human)
Status
Functioni
May dephosphorylate receptor tyrosine-protein kinase ERBB4 and inhibits its ligand-induced proteolytic cleavage (PubMed:15219672).
May play a role in odontogenesis (PubMed:27843125).
2 PublicationsCatalytic activityi
- EC:3.1.3.2
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 41 | NucleophileBy similarity | 1 | |
Active sitei | 289 | Proton donorBy similarity | 1 |
GO - Molecular functioni
- acid phosphatase activity Source: GO_Central
- phosphatase activity Source: GO_Central
- protein tyrosine phosphatase activity Source: UniProtKB
- receptor tyrosine kinase binding Source: UniProtKB
GO - Biological processi
- dephosphorylation Source: GO_Central
- lysosome organization Source: GO_Central
- negative regulation of ERBB4 signaling pathway Source: UniProtKB
- negative regulation of neuron projection development Source: UniProtKB
- negative regulation of protein processing Source: UniProtKB
- odontogenesis Source: UniProtKB
- peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity Source: UniProtKB
- regulation of neuronal synaptic plasticity Source: UniProtKB
Keywordsi
Molecular function | Hydrolase |
Enzyme and pathway databases
PathwayCommonsi | Q9BZG2 |
Names & Taxonomyi
Protein namesi | Recommended name: Testicular acid phosphataseCurated (EC:3.1.3.2)Alternative name(s): Acid phosphatase 4Imported |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:14376, ACP4 |
MIMi | 606362, gene |
neXtProti | NX_Q9BZG2 |
VEuPathDBi | HostDB:ENSG00000142513 |
Subcellular locationi
Other locations
- Membrane Sequence analysis; Single-pass type I membrane protein Sequence analysis
Lysosome
- lysosome Source: GO_Central
Plasma Membrane
- postsynaptic membrane Source: GO_Central
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 27 – 393 | ExtracellularSequence analysisAdd BLAST | 367 | |
Transmembranei | 394 – 414 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 415 – 426 | CytoplasmicSequence analysisAdd BLAST | 12 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Involvement in diseasei
Amelogenesis imperfecta 1J (AI1J)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078014 | 76 | R → C in AI1J. 1 PublicationCorresponds to variants dbSNP:rs1057519277 and dbSNP:rs902112287EnsemblClinVarEnsembl. | 1 | |
Natural variantiVAR_078015 | 111 | R → C in AI1J. 1 PublicationCorresponds to variant dbSNP:rs202073531EnsemblClinVar. | 1 | |
Natural variantiVAR_078016 | 128 | A → P in AI1J; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs767907487EnsemblClinVar. | 1 | |
Natural variantiVAR_078017 | 133 | E → K in AI1J; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs779823931EnsemblClinVar. | 1 | |
Natural variantiVAR_078018 | 238 | S → L in AI1J. 1 PublicationCorresponds to variant dbSNP:rs763573828EnsemblClinVar. | 1 |
Keywords - Diseasei
Amelogenesis imperfecta, Disease variantOrganism-specific databases
DisGeNETi | 93650 |
MalaCardsi | ACP4 |
MIMi | 617297, phenotype |
OpenTargetsi | ENSG00000142513 |
Orphaneti | 100031, Hypoplastic amelogenesis imperfecta |
PharmGKBi | PA24450 |
Miscellaneous databases
Pharosi | Q9BZG2, Tbio |
Genetic variation databases
BioMutai | ACP4 |
DMDMi | 74717749 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 26 | Sequence analysisAdd BLAST | 26 | |
ChainiPRO_0000259643 | 27 – 426 | Testicular acid phosphataseAdd BLAST | 400 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 159 ↔ 378 | By similarity | ||
Glycosylationi | 191 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 214 ↔ 312 | By similarity | ||
Glycosylationi | 269 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 330 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 339 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 353 ↔ 357 | By similarity |
Post-translational modificationi
Glycosylated.1 Publication
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
MassIVEi | Q9BZG2 |
PaxDbi | Q9BZG2 |
PeptideAtlasi | Q9BZG2 |
PRIDEi | Q9BZG2 |
ProteomicsDBi | 79839 [Q9BZG2-1] |
TopDownProteomicsi | Q9BZG2-2 [Q9BZG2-2] |
PTM databases
DEPODi | ACP4 |
GlyGeni | Q9BZG2, 4 sites |
iPTMneti | Q9BZG2 |
PhosphoSitePlusi | Q9BZG2 |
Expressioni
Tissue specificityi
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.1 Publication
Inductioni
Up-regulated by mibolerone (a synthetic androgen) and dihydrotestosterone (DHT) and is down-regulated by estrogen and progestin.1 Publication
Gene expression databases
Bgeei | ENSG00000142513, Expressed in amniotic fluid and 125 other tissues |
Genevisiblei | Q9BZG2, HS |
Organism-specific databases
HPAi | ENSG00000142513, Tissue enhanced (skin, testis) |
Interactioni
Subunit structurei
Homodimer.
1 PublicationGO - Molecular functioni
- receptor tyrosine kinase binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 125045, 124 interactors |
STRINGi | 9606.ENSP00000270593 |
Miscellaneous databases
RNActi | Q9BZG2, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the histidine acid phosphatase family.Curated
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3720, Eukaryota |
GeneTreei | ENSGT00940000161433 |
HOGENOMi | CLU_030431_1_1_1 |
InParanoidi | Q9BZG2 |
OMAi | PCHGSRE |
OrthoDBi | 1221585at2759 |
PhylomeDBi | Q9BZG2 |
TreeFami | TF312893 |
Family and domain databases
CDDi | cd07061, HP_HAP_like, 1 hit |
Gene3Di | 3.40.50.1240, 1 hit |
InterProi | View protein in InterPro IPR033379, Acid_Pase_AS IPR000560, His_Pase_clade-2 IPR029033, His_PPase_superfam |
Pfami | View protein in Pfam PF00328, His_Phos_2, 1 hit |
SUPFAMi | SSF53254, SSF53254, 1 hit |
PROSITEi | View protein in PROSITE PS00616, HIS_ACID_PHOSPHAT_1, 1 hit PS00778, HIS_ACID_PHOSPHAT_2, 1 hit |
s (3)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q9BZG2-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAGLGFWGHP AGPLLLLLLL VLPPRALPEG PLVFVALVFR HGDRAPLASY
60 70 80 90 100
PMDPHKEVAS TLWPRGLGQL TTEGVRQQLE LGRFLRSRYE AFLSPEYRRE
110 120 130 140 150
EVYIRSTDFD RTLESAQANL AGLFPEAAPG SPEARWRPIP VHTVPVAEDK
160 170 180 190 200
LLRFPMRSCP RYHELLREAT EAAEYQEALE GWTGFLSRLE NFTGLSLVGE
210 220 230 240 250
PLRRAWKVLD TLMCQQAHGL PLPAWASPDV LRTLAQISAL DIGAHVGPPR
260 270 280 290 300
AAEKAQLTGG ILLNAILANF SRVQRLGLPL KMVMYSAHDS TLLALQGALG
310 320 330 340 350
LYDGHTPPYA ACLGFEFRKH LGNPAKDGGN VTVSLFYRND SAHLPLPLSL
360 370 380 390 400
PGCPAPCPLG RFYQLTAPAR PPAHGVSCHG PYEAAIPPAP VVPLLAGAVA
410 420
VLVALSLGLG LLAWRPGCLR ALGGPV
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078014 | 76 | R → C in AI1J. 1 PublicationCorresponds to variants dbSNP:rs1057519277 and dbSNP:rs902112287EnsemblClinVarEnsembl. | 1 | |
Natural variantiVAR_078015 | 111 | R → C in AI1J. 1 PublicationCorresponds to variant dbSNP:rs202073531EnsemblClinVar. | 1 | |
Natural variantiVAR_078016 | 128 | A → P in AI1J; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs767907487EnsemblClinVar. | 1 | |
Natural variantiVAR_078017 | 133 | E → K in AI1J; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs779823931EnsemblClinVar. | 1 | |
Natural variantiVAR_078018 | 238 | S → L in AI1J. 1 PublicationCorresponds to variant dbSNP:rs763573828EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_021493 | 39 – 92 | FRHGD…RYEAF → RRPHPGLPLAPPGLALTSPV PRYSAMATGPRWPPTPWTHT RRWPPPCGHEAWAS in isoform 3. CuratedAdd BLAST | 54 | |
Alternative sequenceiVSP_021494 | 91 – 183 | Missing in isoform 2. CuratedAdd BLAST | 93 | |
Alternative sequenceiVSP_021495 | 93 – 426 | Missing in isoform 3. CuratedAdd BLAST | 334 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF321918 Genomic DNA Translation: AAK09393.1 AF321918 Genomic DNA Translation: AAK09394.1 AF321918 Genomic DNA Translation: AAK09395.1 AF321918 Genomic DNA Translation: AAK09396.1 |
CCDSi | CCDS12802.1 [Q9BZG2-1] |
RefSeqi | NP_149059.1, NM_033068.2 [Q9BZG2-1] |
Genome annotation databases
Ensembli | ENST00000270593.2; ENSP00000270593.1; ENSG00000142513.6 |
GeneIDi | 93650 |
KEGGi | hsa:93650 |
MANE-Selecti | ENST00000270593.2; ENSP00000270593.1; NM_033068.3; NP_149059.1 |
UCSCi | uc002pta.1, human [Q9BZG2-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF321918 Genomic DNA Translation: AAK09393.1 AF321918 Genomic DNA Translation: AAK09394.1 AF321918 Genomic DNA Translation: AAK09395.1 AF321918 Genomic DNA Translation: AAK09396.1 |
CCDSi | CCDS12802.1 [Q9BZG2-1] |
RefSeqi | NP_149059.1, NM_033068.2 [Q9BZG2-1] |
3D structure databases
AlphaFoldDBi | Q9BZG2 |
SMRi | Q9BZG2 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 125045, 124 interactors |
STRINGi | 9606.ENSP00000270593 |
PTM databases
DEPODi | ACP4 |
GlyGeni | Q9BZG2, 4 sites |
iPTMneti | Q9BZG2 |
PhosphoSitePlusi | Q9BZG2 |
Genetic variation databases
BioMutai | ACP4 |
DMDMi | 74717749 |
Proteomic databases
MassIVEi | Q9BZG2 |
PaxDbi | Q9BZG2 |
PeptideAtlasi | Q9BZG2 |
PRIDEi | Q9BZG2 |
ProteomicsDBi | 79839 [Q9BZG2-1] |
TopDownProteomicsi | Q9BZG2-2 [Q9BZG2-2] |
Protocols and materials databases
Antibodypediai | 32366, 80 antibodies from 20 providers |
DNASUi | 93650 |
Genome annotation databases
Ensembli | ENST00000270593.2; ENSP00000270593.1; ENSG00000142513.6 |
GeneIDi | 93650 |
KEGGi | hsa:93650 |
MANE-Selecti | ENST00000270593.2; ENSP00000270593.1; NM_033068.3; NP_149059.1 |
UCSCi | uc002pta.1, human [Q9BZG2-1] |
Organism-specific databases
CTDi | 93650 |
DisGeNETi | 93650 |
GeneCardsi | ACP4 |
HGNCi | HGNC:14376, ACP4 |
HPAi | ENSG00000142513, Tissue enhanced (skin, testis) |
MalaCardsi | ACP4 |
MIMi | 606362, gene 617297, phenotype |
neXtProti | NX_Q9BZG2 |
OpenTargetsi | ENSG00000142513 |
Orphaneti | 100031, Hypoplastic amelogenesis imperfecta |
PharmGKBi | PA24450 |
VEuPathDBi | HostDB:ENSG00000142513 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3720, Eukaryota |
GeneTreei | ENSGT00940000161433 |
HOGENOMi | CLU_030431_1_1_1 |
InParanoidi | Q9BZG2 |
OMAi | PCHGSRE |
OrthoDBi | 1221585at2759 |
PhylomeDBi | Q9BZG2 |
TreeFami | TF312893 |
Enzyme and pathway databases
PathwayCommonsi | Q9BZG2 |
Miscellaneous databases
BioGRID-ORCSi | 93650, 19 hits in 1071 CRISPR screens |
GenomeRNAii | 93650 |
Pharosi | Q9BZG2, Tbio |
PROi | PR:Q9BZG2 |
RNActi | Q9BZG2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000142513, Expressed in amniotic fluid and 125 other tissues |
Genevisiblei | Q9BZG2, HS |
Family and domain databases
CDDi | cd07061, HP_HAP_like, 1 hit |
Gene3Di | 3.40.50.1240, 1 hit |
InterProi | View protein in InterPro IPR033379, Acid_Pase_AS IPR000560, His_Pase_clade-2 IPR029033, His_PPase_superfam |
Pfami | View protein in Pfam PF00328, His_Phos_2, 1 hit |
SUPFAMi | SSF53254, SSF53254, 1 hit |
PROSITEi | View protein in PROSITE PS00616, HIS_ACID_PHOSPHAT_1, 1 hit PS00778, HIS_ACID_PHOSPHAT_2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | PPAT_HUMAN | |
Accessioni | Q9BZG2Primary (citable) accession number: Q9BZG2 Secondary accession number(s): C0H3P7, Q9BZG3, Q9BZG4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 31, 2006 |
Last sequence update: | June 1, 2001 | |
Last modified: | May 25, 2022 | |
This is version 136 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families