ACP5 acid phosphatase 5, tartrate resistant [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACP5provided by HGNC
Official Full Name: acid phosphatase 5, tartrate resistantprovided by HGNC
Primary source: HGNC:HGNC:124
See related: Ensembl:ENSG00000102575 MIM:171640; AllianceGenome:HGNC:124
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HPAP; TRAP; TRAcP; TRACP5a; TRACP5b; TrATPase
Summary: This gene encodes an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate. [provided by RefSeq, Aug 2008]
Expression: Broad expression in lung (RPKM 55.0), kidney (RPKM 29.2) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (11574660..11578975, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (11702190..11706505, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (11685475..11689790, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Spondyloenchondrodysplasia with immune dysregulation related to ACP5. A report of 4 cases.
Title: Spondyloenchondrodysplasia with immune dysregulation related to ACP5. A report of 4 cases.
Perilla seed oil improves bone health by inhibiting bone resorption in healthy Japanese adults: A 12-month, randomized, double-blind, placebo-controlled trial.
Title: Perilla seed oil improves bone health by inhibiting bone resorption in healthy Japanese adults: A 12-month, randomized, double-blind, placebo-controlled trial.
Spondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations.
Title: Spondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations.
The clinical utility of TRACP-5b to monitor anti-resorptive treatments of osteoporosis.
Title: The clinical utility of TRACP-5b to monitor anti-resorptive treatments of osteoporosis.
Tartrate-resistant acid phosphatase 5 promotes pulmonary fibrosis by modulating beta-catenin signaling.
Title: Tartrate-resistant acid phosphatase 5 promotes pulmonary fibrosis by modulating β-catenin signaling.
microRNA-877 contributes to decreased non-small cell lung cancer cell growth via the PI3K/AKT pathway by targeting tartrate resistant acid phosphatase 5 activity.
Title: microRNA-877 contributes to decreased non-small cell lung cancer cell growth via the PI3K/AKT pathway by targeting tartrate resistant acid phosphatase 5 activity.
Expression of tartrate-resistant acid phosphatase and cathepsin K during osteoclast differentiation in developing mouse mandibles.
Title: Expression of tartrate-resistant acid phosphatase and cathepsin K during osteoclast differentiation in developing mouse mandibles.
Intensive weight gain therapy in patients with anorexia nervosa results in improved serum tartrate-resistant acid phosphatase (TRAP) 5a and 5b isoform protein levels.
Title: Intensive weight gain therapy in patients with anorexia nervosa results in improved serum tartrate-resistant acid phosphatase (TRAP) 5a and 5b isoform protein levels.
MMP-8, TRAP-5, and OPG Levels in GCF Diagnostic Potential to Discriminate between Healthy Patients', Mild and Severe Periodontitis Sites.
Title: MMP-8, TRAP-5, and OPG Levels in GCF Diagnostic Potential to Discriminate between Healthy Patients', Mild and Severe Periodontitis Sites.
A Novel Sandwich ELISA for Tartrate-Resistant Acid Phosphatase 5a and 5b Protein Reveals that Both Isoforms are Secreted by Differentiating Osteoclasts and Correlate to the Type I Collagen Degradation Marker CTX-I In Vivo and In Vitro.
Title: A Novel Sandwich ELISA for Tartrate-Resistant Acid Phosphatase 5a and 5b Protein Reveals that Both Isoforms are Secreted by Differentiating Osteoclasts and Correlate to the Type I Collagen Degradation Marker CTX-I In Vivo and In Vitro.

Submit: New GeneRIF Correction See all GeneRIFs (75)

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

Associated conditions

Description	Tests
Spondyloenchondrodysplasia with immune dysregulation MedGen: C1842763 OMIM: 607944 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope transmembrane glycoprotein gp41	env	A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of acid phosphatase 5, tartrate resistant (ACP5) in peptide-treated PBMCs	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G10515 (e-PCR)
- UniSTS:53560

G06617 (e-PCR)
- UniSTS:30801

ACP5 (e-PCR)
- UniSTS:261992

RH93921 (e-PCR)
- UniSTS:87159

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acid phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ferric iron binding	IBA Inferred from Biological aspect of Ancestor more info
enables ferric iron binding	IDA Inferred from Direct Assay more info	PubMed
enables ferrous iron binding	IBA Inferred from Biological aspect of Ancestor more info
enables ferrous iron binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in bone morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in bone resorption	IBA Inferred from Biological aspect of Ancestor more info
involved_in defense response to Gram-positive bacterium	IEA Inferred from Electronic Annotation more info
involved_in dephosphorylation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of interleukin-1 beta production	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of interleukin-12 production	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of macrophage cytokine production	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of nitric oxide biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of superoxide anion generation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of tumor necrosis factor production	IEA Inferred from Electronic Annotation more info
involved_in nitric oxide biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in response to cytokine	IEA Inferred from Electronic Annotation more info
involved_in response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in superoxide anion generation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in lysosome	IEA Inferred from Electronic Annotation more info
located_in membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: tartrate-resistant acid phosphatase type 5

Names: human purple acid phosphatase; tartrate-resistant acid ATPase; tartrate-resistant acid phosphatase 5a; tartrate-resistant acid phosphatase 5b

NP_001104504.1

EC 3.1.3.2

NP_001104505.1

EC 3.1.3.2

NP_001104506.1

EC 3.1.3.2

NP_001308952.1

EC 3.1.3.2

NP_001602.1

EC 3.1.3.2

XP_005259995.1

EC 3.1.3.2

XP_011526371.1

EC 3.1.3.2

XP_047294900.1

EC 3.1.3.2

XP_047294901.1

EC 3.1.3.2

XP_054177203.1

EC 3.1.3.2

XP_054177204.1

EC 3.1.3.2

XP_054177205.1

EC 3.1.3.2

XP_054177206.1

EC 3.1.3.2

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.

Genomic

NG_028127.1 RefSeqGene

Range

6342..9327

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1218

mRNA and Protein(s)

NM_001111034.3 → NP_001104504.1 tartrate-resistant acid phosphatase type 5 precursor

See identical proteins and their annotated locations for NP_001104504.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-5 encode the same protein.

Source sequence(s)

BC025414, BP367008

Consensus CDS

CCDS12265.1

UniProtKB/Swiss-Prot

A8K3V2, P13686, Q2TAB1, Q6IAS6, Q9UCJ5, Q9UCJ6, Q9UCJ7

UniProtKB/TrEMBL

A0A8Q3SI79

Related

ENSP00000512173.1, ENST00000695791.1

Conserved Domains (1) summary

cd07378
Location:26 → 311

MPP_ACP5; Homo sapiens acid phosphatase 5 and related proteins, metallophosphatase domain
NM_001111035.3 → NP_001104505.1 tartrate-resistant acid phosphatase type 5 precursor

See identical proteins and their annotated locations for NP_001104505.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1-5 encode the same protein.

Source sequence(s)

BC025414, BC111014, BP334409

Consensus CDS

CCDS12265.1

UniProtKB/Swiss-Prot

A8K3V2, P13686, Q2TAB1, Q6IAS6, Q9UCJ5, Q9UCJ6, Q9UCJ7

UniProtKB/TrEMBL

A0A8Q3SI79

Related

ENSP00000218758.4, ENST00000218758.10

Conserved Domains (1) summary

cd07378
Location:26 → 311

MPP_ACP5; Homo sapiens acid phosphatase 5 and related proteins, metallophosphatase domain
NM_001111036.3 → NP_001104506.1 tartrate-resistant acid phosphatase type 5 precursor

See identical proteins and their annotated locations for NP_001104506.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-5 encode the same protein.

Source sequence(s)

BC025414, BX365007

Consensus CDS

CCDS12265.1

UniProtKB/Swiss-Prot

A8K3V2, P13686, Q2TAB1, Q6IAS6, Q9UCJ5, Q9UCJ6, Q9UCJ7

UniProtKB/TrEMBL

A0A8Q3SI79

Related

ENSP00000392374.1, ENST00000412435.7

Conserved Domains (1) summary

cd07378
Location:26 → 311

MPP_ACP5; Homo sapiens acid phosphatase 5 and related proteins, metallophosphatase domain
NM_001322023.2 → NP_001308952.1 tartrate-resistant acid phosphatase type 5 precursor

Status: REVIEWED

Source sequence(s)

AC020947, BC025414, BP334409

Consensus CDS

CCDS12265.1

UniProtKB/Swiss-Prot

A8K3V2, P13686, Q2TAB1, Q6IAS6, Q9UCJ5, Q9UCJ6, Q9UCJ7

UniProtKB/TrEMBL

A0A8Q3SI79

Conserved Domains (1) summary

cd07378
Location:26 → 311

MPP_ACP5; Homo sapiens acid phosphatase 5 and related proteins, metallophosphatase domain
NM_001611.5 → NP_001602.1 tartrate-resistant acid phosphatase type 5 precursor

See identical proteins and their annotated locations for NP_001602.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-5 encode the same protein.

Source sequence(s)

AK290717, BC025414

Consensus CDS

CCDS12265.1

UniProtKB/Swiss-Prot

A8K3V2, P13686, Q2TAB1, Q6IAS6, Q9UCJ5, Q9UCJ6, Q9UCJ7

UniProtKB/TrEMBL

A0A8Q3SI79

Related

ENSP00000496973.1, ENST00000648477.1

Conserved Domains (1) summary

cd07378
Location:26 → 311

MPP_ACP5; Homo sapiens acid phosphatase 5 and related proteins, metallophosphatase domain