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Protein

Tartrate-resistant acid phosphatase type 5

Gene

ACP5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in osteopontin/bone sialoprotein dephosphorylation. Its expression seems to increase in certain pathological states such as Gaucher and Hodgkin diseases, the hairy cell, the B-cell, and the T-cell leukemias.

Catalytic activityi

A phosphate monoester + H2O = an alcohol + phosphate.

Cofactori

Fe cationNote: Binds 2 iron ions per subunit.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi33Iron 11
Metal bindingi71Iron 11
Metal bindingi71Iron 21
Metal bindingi74Iron 11
Metal bindingi110Iron 21
Metal bindingi205Iron 21
Metal bindingi240Iron 21
Metal bindingi242Iron 11

GO - Molecular functioni

  • acid phosphatase activity Source: Reactome
  • ferric iron binding Source: UniProtKB
  • ferrous iron binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Ligandi

Iron, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:HS02398-MONOMER.
BRENDAi3.1.3.2. 2681.
ReactomeiR-HSA-196843. Vitamin B2 (riboflavin) metabolism.
SABIO-RKP13686.

Names & Taxonomyi

Protein namesi
Recommended name:
Tartrate-resistant acid phosphatase type 5 (EC:3.1.3.2)
Short name:
TR-AP
Alternative name(s):
Tartrate-resistant acid ATPase
Short name:
TrATPase
Type 5 acid phosphatase
Gene namesi
Name:ACP5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:124. ACP5.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: Reactome
  • extracellular exosome Source: UniProtKB
  • integral component of membrane Source: ProtInc
  • lysosome Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)2 Publications
The disease is caused by mutations affecting the gene represented in this entry. ACP5 inactivating mutations result in a functional excess of phosphorylated osteopontin causing deregulation of osteopontin signaling and consequential autoimmune disease.
Disease descriptionA disease characterized by vertebral and metaphyseal dysplasia, spasticity with cerebral calcifications, and strong predisposition to autoimmune diseases. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone.
See also OMIM:607944
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06592052K → M in SPENCDI. 1 Publication1
Natural variantiVAR_06592189T → I in SPENCDI. 1 PublicationCorresponds to variant rs387906668dbSNPEnsembl.1
Natural variantiVAR_065922109G → R in SPENCDI. 1 PublicationCorresponds to variant rs781050795dbSNPEnsembl.1
Natural variantiVAR_065923201L → P in SPENCDI. 1 PublicationCorresponds to variant rs387906672dbSNPEnsembl.1
Natural variantiVAR_065924215G → R in SPENCDI. 2 PublicationsCorresponds to variant rs781199182dbSNPEnsembl.1
Natural variantiVAR_065925241D → N in SPENCDI. 1 Publication1
Natural variantiVAR_065926262N → H in SPENCDI. 1 Publication1
Natural variantiVAR_065927264M → K in SPENCDI. 2 PublicationsCorresponds to variant rs387906670dbSNPEnsembl.1
Natural variantiVAR_065928278Missing in SPENCDI. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi54.
MalaCardsiACP5.
MIMi607944. phenotype.
OpenTargetsiENSG00000102575.
Orphaneti1855. Spondyloenchondrodysplasia.
PharmGKBiPA24448.

Chemistry databases

DrugBankiDB02325. Isopropyl Alcohol.

Polymorphism and mutation databases

BioMutaiACP5.
DMDMi56757583.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 214 PublicationsAdd BLAST21
ChainiPRO_000002398122 – 325Tartrate-resistant acid phosphatase type 5Add BLAST304

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi116N-linked (GlcNAc...)1 Publication1
Glycosylationi147N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi161 ↔ 219By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiP13686.
PaxDbiP13686.
PeptideAtlasiP13686.
PRIDEiP13686.

PTM databases

DEPODiP13686.
iPTMnetiP13686.
PhosphoSitePlusiP13686.

Miscellaneous databases

PMAP-CutDBP13686.

Expressioni

Gene expression databases

BgeeiENSG00000102575.
CleanExiHS_ACP5.
ExpressionAtlasiP13686. baseline and differential.
GenevisibleiP13686. HS.

Organism-specific databases

HPAiCAB002584.
HPA057655.
HPA059463.

Interactioni

Subunit structurei

Exists either as monomer or, after proteolytic processing, as a dimer of two chains linked by disulfide bond(s).3 Publications

Protein-protein interaction databases

BioGridi106570. 11 interactors.
IntActiP13686. 9 interactors.
MINTiMINT-1387442.
STRINGi9606.ENSP00000218758.

Structurei

Secondary structure

1325
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi26 – 31Combined sources6
Helixi45 – 61Combined sources17
Beta strandi64 – 68Combined sources5
Turni74 – 76Combined sources3
Helixi85 – 89Combined sources5
Turni90 – 93Combined sources4
Helixi97 – 100Combined sources4
Beta strandi104 – 106Combined sources3
Helixi110 – 113Combined sources4
Helixi117 – 122Combined sources6
Helixi123 – 125Combined sources3
Beta strandi128 – 131Combined sources4
Beta strandi134 – 142Combined sources9
Beta strandi149 – 154Combined sources6
Helixi157 – 161Combined sources5
Helixi164 – 166Combined sources3
Helixi178 – 194Combined sources17
Beta strandi198 – 203Combined sources6
Beta strandi211 – 214Combined sources4
Helixi218 – 223Combined sources6
Helixi225 – 230Combined sources6
Beta strandi235 – 238Combined sources4
Beta strandi240 – 248Combined sources9
Beta strandi254 – 258Combined sources5
Helixi271 – 273Combined sources3
Beta strandi279 – 283Combined sources5
Beta strandi291 – 297Combined sources7
Beta strandi299 – 308Combined sources10
Beta strandi313 – 320Combined sources8

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1WARX-ray2.22A22-325[»]
2BQ8X-ray2.20X22-325[»]
ProteinModelPortaliP13686.
SMRiP13686.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP13686.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG2679. Eukaryota.
COG1409. LUCA.
GeneTreeiENSGT00390000016735.
HOVERGENiHBG000433.
InParanoidiP13686.
KOiK14379.
OMAiYYTHTET.
OrthoDBiEOG091G0J5W.
PhylomeDBiP13686.
TreeFamiTF313175.

Family and domain databases

Gene3Di3.60.21.10. 1 hit.
InterProiIPR024927. Acid_Pase_5.
IPR004843. Calcineurin-like_PHP_ApaH.
IPR029052. Metallo-depent_PP-like.
[Graphical view]
PfamiPF00149. Metallophos. 1 hit.
[Graphical view]
PIRSFiPIRSF000898. Acid_Ptase_5. 1 hit.
SUPFAMiSSF56300. SSF56300. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P13686-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDMWTALLIL QALLLPSLAD GATPALRFVA VGDWGGVPNA PFHTAREMAN
60 70 80 90 100
AKEIARTVQI LGADFILSLG DNFYFTGVQD INDKRFQETF EDVFSDRSLR
110 120 130 140 150
KVPWYVLAGN HDHLGNVSAQ IAYSKISKRW NFPSPFYRLH FKIPQTNVSV
160 170 180 190 200
AIFMLDTVTL CGNSDDFLSQ QPERPRDVKL ARTQLSWLKK QLAAAREDYV
210 220 230 240 250
LVAGHYPVWS IAEHGPTHCL VKQLRPLLAT YGVTAYLCGH DHNLQYLQDE
260 270 280 290 300
NGVGYVLSGA GNFMDPSKRH QRKVPNGYLR FHYGTEDSLG GFAYVEISSK
310 320
EMTVTYIEAS GKSLFKTRLP RRARP
Length:325
Mass (Da):36,599
Last modified:December 21, 2004 - v3
Checksum:i079174A71A5BA264
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti45 – 46AR → GP in AAA76849 (PubMed:2909539).Curated2
Sequence conflicti47E → G AA sequence (PubMed:1477968).Curated1
Sequence conflicti47E → Q AA sequence (PubMed:2775236).Curated1
Sequence conflicti50N → W AA sequence (PubMed:2775236).Curated1
Sequence conflicti177 – 180DVKL → LT in AAA76849 (PubMed:2909539).Curated4

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06592052K → M in SPENCDI. 1 Publication1
Natural variantiVAR_06592189T → I in SPENCDI. 1 PublicationCorresponds to variant rs387906668dbSNPEnsembl.1
Natural variantiVAR_065922109G → R in SPENCDI. 1 PublicationCorresponds to variant rs781050795dbSNPEnsembl.1
Natural variantiVAR_020602148V → M.1 PublicationCorresponds to variant rs2305799dbSNPEnsembl.1
Natural variantiVAR_020603200V → M.1 PublicationCorresponds to variant rs2229531dbSNPEnsembl.1
Natural variantiVAR_065923201L → P in SPENCDI. 1 PublicationCorresponds to variant rs387906672dbSNPEnsembl.1
Natural variantiVAR_065924215G → R in SPENCDI. 2 PublicationsCorresponds to variant rs781199182dbSNPEnsembl.1
Natural variantiVAR_029288221V → I.Corresponds to variant rs2229532dbSNPEnsembl.1
Natural variantiVAR_065925241D → N in SPENCDI. 1 Publication1
Natural variantiVAR_065926262N → H in SPENCDI. 1 Publication1
Natural variantiVAR_065927264M → K in SPENCDI. 2 PublicationsCorresponds to variant rs387906670dbSNPEnsembl.1
Natural variantiVAR_065928278Missing in SPENCDI. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J04430 mRNA. Translation: AAA76849.1.
X14618 mRNA. Translation: CAA32771.1.
CR457078 mRNA. Translation: CAG33359.1.
AK290717 mRNA. Translation: BAF83406.1.
BC025414 mRNA. Translation: AAH25414.1.
BC111014 mRNA. Translation: AAI11015.1.
X67123 Genomic DNA. No translation available.
CCDSiCCDS12265.1.
PIRiS15752.
RefSeqiNP_001104504.1. NM_001111034.2.
NP_001104505.1. NM_001111035.2.
NP_001104506.1. NM_001111036.2.
NP_001308952.1. NM_001322023.1.
NP_001602.1. NM_001611.4.
XP_005259995.1. XM_005259938.1.
XP_011526371.1. XM_011528069.2.
UniGeneiHs.1211.

Genome annotation databases

EnsembliENST00000218758; ENSP00000218758; ENSG00000102575.
ENST00000412435; ENSP00000392374; ENSG00000102575.
ENST00000433365; ENSP00000413456; ENSG00000102575.
ENST00000592828; ENSP00000468767; ENSG00000102575.
GeneIDi54.
KEGGihsa:54.
UCSCiuc002msg.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

Tartrate-resistant acid phosphatase entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J04430 mRNA. Translation: AAA76849.1.
X14618 mRNA. Translation: CAA32771.1.
CR457078 mRNA. Translation: CAG33359.1.
AK290717 mRNA. Translation: BAF83406.1.
BC025414 mRNA. Translation: AAH25414.1.
BC111014 mRNA. Translation: AAI11015.1.
X67123 Genomic DNA. No translation available.
CCDSiCCDS12265.1.
PIRiS15752.
RefSeqiNP_001104504.1. NM_001111034.2.
NP_001104505.1. NM_001111035.2.
NP_001104506.1. NM_001111036.2.
NP_001308952.1. NM_001322023.1.
NP_001602.1. NM_001611.4.
XP_005259995.1. XM_005259938.1.
XP_011526371.1. XM_011528069.2.
UniGeneiHs.1211.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1WARX-ray2.22A22-325[»]
2BQ8X-ray2.20X22-325[»]
ProteinModelPortaliP13686.
SMRiP13686.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106570. 11 interactors.
IntActiP13686. 9 interactors.
MINTiMINT-1387442.
STRINGi9606.ENSP00000218758.

Chemistry databases

DrugBankiDB02325. Isopropyl Alcohol.

PTM databases

DEPODiP13686.
iPTMnetiP13686.
PhosphoSitePlusiP13686.

Polymorphism and mutation databases

BioMutaiACP5.
DMDMi56757583.

Proteomic databases

EPDiP13686.
PaxDbiP13686.
PeptideAtlasiP13686.
PRIDEiP13686.

Protocols and materials databases

DNASUi54.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000218758; ENSP00000218758; ENSG00000102575.
ENST00000412435; ENSP00000392374; ENSG00000102575.
ENST00000433365; ENSP00000413456; ENSG00000102575.
ENST00000592828; ENSP00000468767; ENSG00000102575.
GeneIDi54.
KEGGihsa:54.
UCSCiuc002msg.5. human.

Organism-specific databases

CTDi54.
DisGeNETi54.
GeneCardsiACP5.
HGNCiHGNC:124. ACP5.
HPAiCAB002584.
HPA057655.
HPA059463.
MalaCardsiACP5.
MIMi171640. gene.
607944. phenotype.
neXtProtiNX_P13686.
OpenTargetsiENSG00000102575.
Orphaneti1855. Spondyloenchondrodysplasia.
PharmGKBiPA24448.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2679. Eukaryota.
COG1409. LUCA.
GeneTreeiENSGT00390000016735.
HOVERGENiHBG000433.
InParanoidiP13686.
KOiK14379.
OMAiYYTHTET.
OrthoDBiEOG091G0J5W.
PhylomeDBiP13686.
TreeFamiTF313175.

Enzyme and pathway databases

BioCyciZFISH:HS02398-MONOMER.
BRENDAi3.1.3.2. 2681.
ReactomeiR-HSA-196843. Vitamin B2 (riboflavin) metabolism.
SABIO-RKP13686.

Miscellaneous databases

ChiTaRSiACP5. human.
EvolutionaryTraceiP13686.
GeneWikiiTartrate-resistant_acid_phosphatase.
GenomeRNAii54.
PMAP-CutDBP13686.
PROiP13686.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000102575.
CleanExiHS_ACP5.
ExpressionAtlasiP13686. baseline and differential.
GenevisibleiP13686. HS.

Family and domain databases

Gene3Di3.60.21.10. 1 hit.
InterProiIPR024927. Acid_Pase_5.
IPR004843. Calcineurin-like_PHP_ApaH.
IPR029052. Metallo-depent_PP-like.
[Graphical view]
PfamiPF00149. Metallophos. 1 hit.
[Graphical view]
PIRSFiPIRSF000898. Acid_Ptase_5. 1 hit.
SUPFAMiSSF56300. SSF56300. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiPPA5_HUMAN
AccessioniPrimary (citable) accession number: P13686
Secondary accession number(s): A8K3V2
, Q2TAB1, Q6IAS6, Q9UCJ5, Q9UCJ6, Q9UCJ7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: December 21, 2004
Last modified: November 30, 2016
This is version 169 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.