ACP4 acid phosphatase 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACP4provided by HGNC
Official Full Name: acid phosphatase 4provided by HGNC
Primary source: HGNC:HGNC:14376
See related: Ensembl:ENSG00000142513 MIM:606362; AllianceGenome:HGNC:14376
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: ACPT; AI1J
Summary: 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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.33

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (50790415..50795219)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (53879904..53884708)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (51293672..51298476)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Enamel defects in Acp4(R110C/R110C) mice and human ACP4 mutations.
Title: Enamel defects in Acp4(R110C/R110C) mice and human ACP4 mutations.
Recessive Mutations in ACP4 Cause Amelogenesis Imperfecta.
Title: Recessive Mutations in ACP4 Cause Amelogenesis Imperfecta.
ACPT missense mutation segregates with hypoplastic amelogenesis imperfecta in two unrelated families.
Title: Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta.
ACPT biallelic mutations caused non-syndromic, generalized hypoplastic autosomal-recessive amelogenesis imperfecta in individuals from six unrelated Turkish families. Analysis of the ACPT crystal structure suggests that these mutations damaged the activity of ACPT by altering the sizes and charges of key amino acid side chains, limiting accessibility of the catalytic core, and interfering with homodimerization.
Title: Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta.

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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
Amelogenesis imperfecta, type 1J MedGen: C4310630 OMIM: 617297 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acid phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein tyrosine phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein tyrosine phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables receptor tyrosine kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables receptor tyrosine kinase binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of ERBB4 signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of ERBB4 signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of neuron projection development	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in odontogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of neuronal synaptic plasticity	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of neuronal synaptic plasticity	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in lysosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in postsynaptic membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: testicular acid phosphatase

Names: acid phosphatase, testicular

NP_149059.1

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_052652.1 RefSeqGene

Range

5001..9805

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_033068.3 → NP_149059.1 testicular acid phosphatase precursor

See identical proteins and their annotated locations for NP_149059.1

Status: REVIEWED

Source sequence(s)

AC010325

Consensus CDS

CCDS12802.1

UniProtKB/Swiss-Prot

C0H3P7, Q9BZG2, Q9BZG3, Q9BZG4

Related

ENSP00000270593.1, ENST00000270593.2

Conserved Domains (1) summary

cd07061
Location:32 → 316

HP_HAP_like; Histidine phosphatase domain found in histidine acid phosphatases and phytases; contains a His residue which is phosphorylated during the reaction

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

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

50790415..50795219

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

53879904..53884708

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_080789.1: Suppressed sequence

Description

NM_080789.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_080790.1: Suppressed sequence

Description

NM_080790.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_080791.1: Suppressed sequence

Description

NM_080791.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.