Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51205
Gene name	Acid phosphatase 6, lysophosphatidic
Gene symbol	ACP6
Synonyms (NCBI Gene)	ACPL1LPAPPACPL1
Chromosome	1
Chromosome location	1q21.2
Summary	This gene encodes a member of the histidine acid phosphatase protein family. The encoded protein hydrolyzes lysophosphatidic acid, which is involved in G protein-coupled receptor signaling, lipid raft modulation, and in balancing lipid composition within

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs144959805	C>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant

Show/Hide all (45)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022773	hsa-miR-124-3p	Microarray	18668037
MIRT646004	hsa-miR-5197-5p	HITS-CLIP	23824327
MIRT646003	hsa-miR-130a-3p	HITS-CLIP	23824327
MIRT646002	hsa-miR-130b-3p	HITS-CLIP	23824327
MIRT646001	hsa-miR-301a-3p	HITS-CLIP	23824327
MIRT646000	hsa-miR-301b-3p	HITS-CLIP	23824327
MIRT645999	hsa-miR-3666	HITS-CLIP	23824327
MIRT645998	hsa-miR-4295	HITS-CLIP	23824327
MIRT645997	hsa-miR-454-3p	HITS-CLIP	23824327
MIRT645996	hsa-miR-183-5p	HITS-CLIP	23824327
MIRT645995	hsa-miR-3135b	HITS-CLIP	23824327
MIRT645994	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT645993	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT645992	hsa-miR-564	HITS-CLIP	23824327
MIRT645991	hsa-miR-4284	HITS-CLIP	23824327
MIRT645990	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT645989	hsa-miR-3652	HITS-CLIP	23824327
MIRT645988	hsa-miR-4430	HITS-CLIP	23824327
MIRT645987	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT645986	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT645985	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT645984	hsa-miR-8057	HITS-CLIP	23824327
MIRT645983	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT646004	hsa-miR-5197-5p	HITS-CLIP	23824327
MIRT646003	hsa-miR-130a-3p	HITS-CLIP	23824327
MIRT646002	hsa-miR-130b-3p	HITS-CLIP	23824327
MIRT646001	hsa-miR-301a-3p	HITS-CLIP	23824327
MIRT646000	hsa-miR-301b-3p	HITS-CLIP	23824327
MIRT645999	hsa-miR-3666	HITS-CLIP	23824327
MIRT645998	hsa-miR-4295	HITS-CLIP	23824327
MIRT645997	hsa-miR-454-3p	HITS-CLIP	23824327
MIRT645996	hsa-miR-183-5p	HITS-CLIP	23824327
MIRT645995	hsa-miR-3135b	HITS-CLIP	23824327
MIRT645994	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT645993	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT645992	hsa-miR-564	HITS-CLIP	23824327
MIRT645991	hsa-miR-4284	HITS-CLIP	23824327
MIRT645990	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT645989	hsa-miR-3652	HITS-CLIP	23824327
MIRT645988	hsa-miR-4430	HITS-CLIP	23824327
MIRT645987	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT645986	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT645985	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT645984	hsa-miR-8057	HITS-CLIP	23824327
MIRT645983	hsa-miR-744-3p	HITS-CLIP	23824327

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IEA
GO:0003993	Function	Acid phosphatase activity	IEA
GO:0005737	Component	Cytoplasm	IDA	12010880
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	10506173
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006644	Process	Phospholipid metabolic process	IMP	10506173
GO:0006654	Process	Phosphatidic acid biosynthetic process	TAS
GO:0016787	Function	Hydrolase activity	IEA
GO:0052642	Function	Lysophosphatidic acid phosphatase activity	IBA
GO:0052642	Function	Lysophosphatidic acid phosphatase activity	IDA	10506173, 23807634
GO:0052642	Function	Lysophosphatidic acid phosphatase activity	TAS
GO:2001311	Process	Lysobisphosphatidic acid metabolic process	IBA
GO:2001311	Process	Lysobisphosphatidic acid metabolic process	IDA	23807634

MIM	HGNC	e!Ensembl
611471	29609	ENSG00000162836

Q9NPH0

Protein name

Lysophosphatidic acid phosphatase type 6 (EC 3.1.3.2) (Acid phosphatase 6, lysophosphatidic) (Acid phosphatase-like protein 1) (PACPL1)

Protein function

Hydrolyzes lysophosphatidic acid (LPA) containing a medium length fatty acid chain to the corresponding monoacylglycerol. Has highest activity with lysophosphatidic acid containing myristate (C14:0), monounsaturated oleate (C18:1) or palmitate (

PDB

4JOB , 4JOC , 4JOD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00328	His_Phos_2	49 → 379	Histidine phosphatase superfamily (branch 2)	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in kidney, heart, small intestine, muscle, liver, prostate, testis, ovary and weakly expressed in thymus and colon. {ECO:0000269|PubMed:10506173, ECO:0000269|PubMed:12010880}.

Sequence

MITGVFSMRLWTPVGVLTSLAYCLHQRRVALAELQEADGQCPVDRSLLKLKMVQVVFRHG
ARSPLKPLPLEEQVEWNPQLLEVPPQTQFDYTVTNLAGGPKPYSPYDSQYHETTLKGGMF
AGQLTKVGMQQMFALGERLRKNYVEDIPFLSPTFNPQEVFIRSTNIFRNLESTRCLLAGL
FQCQKEGPIIIHTDEADSEVLYPNYQSCWSLRQRTRGRRQTASLQPGISEDLKKVKDRMG
IDSSDKVDFFILLDNVAAEQAHNLPSCPMLKRFARMIEQRAVDTSLYILPKEDRESLQMA
VGPFLHILESNLLKAMDSATAPDKIRKLYLYAAHDVTFIPLLMTLGIFDHKWPPFAVDLT
MELYQHLESKEWFVQLYYHGKEQVPRGCPDGLCPLDMFLNAMSVYTLSPEKYHALCSQTQ
VMEVGNEE

Sequence length

428

Interactions

View interactions

	Reactome
			Synthesis of PA

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebral visual impairment and intellectual disability	Likely pathogenic	rs144959805	RCV000210392	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Central visual impairment	Central Visual Impairment	BEFREE	26350515		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	16685394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	16685394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	22318994	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	16685394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	16685394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	26350515	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ACP6 (acid phosphatase 6, lysophosphatidic)