ACP7

Summary

ACP7 (acid phosphatase 7, tartrate resistant (putative), HGNC:33781) is a protein-coding gene on chromosome 19q13.2, encoding Acid phosphatase type 7 (Q6ZNF0).

Purple acid phosphatases (PAPs), including PAPL, are a family of binuclear metallohydrolases that have been identified in plants, animals, and fungi (Flanagan et al., 2006 [PubMed 16793224]).

Source: NCBI Gene 390928 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 11 total — 3 pathogenic
• MANE Select transcript: NM_001004318

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33781
Approved symbol	ACP7
Name	acid phosphatase 7, tartrate resistant (putative)
Location	19q13.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ16165, PAPL1, PAPL
Ensembl gene	ENSG00000183760
Ensembl biotype	protein_coding
OMIM	610490
Entrez	390928

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 5 protein_coding, 1 nonsense_mediated_decay

ENST00000331256, ENST00000594229, ENST00000601531, ENST00000601575, ENST00000884472, ENST00000924325

RefSeq mRNA: 2 — MANE Select: NM_001004318 NM_001004318, NM_001363687

CCDS: CCDS33018, CCDS86764

Canonical transcript exons

ENST00000331256 — 13 exons

Exon	Start	End
ENSE00001294943	39100227	39100350
ENSE00001315427	39098960	39099142
ENSE00001324328	39098458	39098658
ENSE00001405951	39085092	39085390
ENSE00001412685	39084368	39084400
ENSE00003460885	39101288	39101355
ENSE00003478282	39100949	39101056
ENSE00003485767	39110053	39111493
ENSE00003564241	39101150	39101207
ENSE00003611082	39100580	39100642
ENSE00003631745	39100739	39100853
ENSE00003656332	39106947	39107084
ENSE00003660057	39101466	39101537

Expression profiles

Bgee: expression breadth broad, 72 present calls, max score 79.75.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3451 / max 54.2742, expressed in 139 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
175681	0.1495	63
175680	0.1090	46
175679	0.0866	36

Top tissues by expression

103 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
cerebellum	UBERON:0002037	79.75	gold quality
cerebellar cortex	UBERON:0002129	79.75	gold quality
cerebellar hemisphere	UBERON:0002245	79.71	gold quality
right hemisphere of cerebellum	UBERON:0014890	79.40	gold quality
colonic epithelium	UBERON:0000397	69.65	gold quality
skin of leg	UBERON:0001511	68.82	gold quality
zone of skin	UBERON:0000014	67.94	gold quality
skin of abdomen	UBERON:0001416	66.49	gold quality
lower esophagus mucosa	UBERON:0035834	64.35	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	62.95	gold quality
sural nerve	UBERON:0015488	62.86	gold quality
putamen	UBERON:0001874	62.41	gold quality
substantia nigra	UBERON:0002038	61.23	gold quality
Ammon’s horn	UBERON:0001954	60.71	gold quality
prefrontal cortex	UBERON:0000451	59.46	gold quality
primary visual cortex	UBERON:0002436	59.41	gold quality
temporal lobe	UBERON:0001871	58.75	gold quality
amygdala	UBERON:0001876	58.69	gold quality
Brodmann (1909) area 9	UBERON:0013540	58.47	gold quality
caudate nucleus	UBERON:0001873	58.37	gold quality
brain	UBERON:0000955	58.16	gold quality
frontal cortex	UBERON:0001870	58.09	gold quality
tibial nerve	UBERON:0001323	57.61	gold quality
right frontal lobe	UBERON:0002810	56.44	gold quality
cerebral cortex	UBERON:0000956	56.15	gold quality
ectocervix	UBERON:0012249	55.77	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	54.96	gold quality
hypothalamus	UBERON:0001898	54.33	gold quality
nucleus accumbens	UBERON:0001882	54.30	gold quality
islet of Langerhans	UBERON:0000006	53.93	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.12

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

50 targeting ACP7, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-4743-3P	99.62	68.12	2095
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-516B-5P	99.56	66.33	1495
HSA-MIR-3153	99.55	67.59	2337
HSA-MIR-4437	99.52	65.29	1266
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-766-3P	99.47	65.24	1811
HSA-MIR-513A-3P	99.39	70.63	3620
HSA-MIR-513C-3P	99.39	70.63	3620
HSA-MIR-5683	99.36	68.59	2083
HSA-MIR-130A-5P	99.33	70.26	2623
HSA-MIR-7515	99.31	68.22	1795
HSA-MIR-3692-5P	99.29	67.04	1421
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-7158-5P	99.25	67.95	796

Literature-anchored findings (GeneRIF, showing 1)

• PAPL, IL10RB and DEPDC5 polymorphisms have an impact on progression of hepatitis B virus-related liver disease. (PMID:25032264)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
		ENSDARG00000102421
mus_musculus	Acp7	ENSMUSG00000037469
rattus_norvegicus	Acp7	ENSRNOG00000047901
drosophila_melanogaster	CG1637	FBGN0030245
caenorhabditis_elegans		WBGENE00219316

Protein

Protein identifiers

Acid phosphatase type 7 — Q6ZNF0 (reviewed: Q6ZNF0)

Alternative names: Purple acid phosphatase long form

All UniProt accessions (4): Q6ZNF0, M0QXC1, M0QYV2, M0R045

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Cofactor. Binds 1 Fe cation per subunit. Binds 1 zinc ion per subunit.

Similarity. Belongs to the metallophosphoesterase superfamily. Purple acid phosphatase family.

RefSeq proteins (2): NP_001004318, NP_001350616 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004843	Calcineurin-like_PHP	Domain
IPR008963	Purple_acid_Pase-like_N	Homologous_superfamily
IPR015914	PAPs_N	Domain
IPR025733	PAPs_C	Domain
IPR029052	Metallo-depent_PP-like	Homologous_superfamily
IPR041792	MPP_PAP	Domain

Pfam: PF00149, PF14008, PF16656

Catalyzed reactions (Rhea), 1 shown:

• a phosphate monoester + H2O = an alcohol + phosphate (RHEA:15017)

UniProt features (14 total): binding site 8, glycosylation site 3, signal peptide 1, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZNF0-F1	93.97	0.92

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (8): 141; 170; 170; 173; 205; 286; 333; 335

Glycosylation sites (3): 211, 350, 404

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 33 (showing top): BENPORATH_ES_WITH_H3K27ME3, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS, GOMF_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY, GOMF_ACID_PHOSPHATASE_ACTIVITY, MEISSNER_NPC_HCP_WITH_H3_UNMETHYLATED, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3, MIKKELSEN_MEF_HCP_WITH_H3K27ME3, GOMF_PHOSPHATASE_ACTIVITY, NFE2L2.V2, NFKBIA_TARGET_GENES, ZNF92_TARGET_GENES, MIR5582_3P, MIR95_5P, MIR6809_3P, MIR4753_3P

GO Biological Process (0):

GO Molecular Function (3): acid phosphatase activity (GO:0003993), metal ion binding (GO:0046872), hydrolase activity (GO:0016787)

GO Cellular Component (1): extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
phosphatase activity	1
cation binding	1
catalytic activity	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1462 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ACP7	ACP5	P13686	705
ACP7	ACP6	Q9NPH0	529
ACP7	ACP4	Q9BZG2	500
ACP7	MRAS	O14807	422
ACP7	WDR31	Q8NA23	406
ACP7	HEATR5B	Q9P2D3	382
ACP7	ADI1	Q9BV57	375
ACP7	ACP3	P15309	363
ACP7	CTDP1	Q9Y5B0	352
ACP7	ALDH18A1	P54886	350
ACP7	TTC23	Q5W5X9	347
ACP7	FAM169A	Q9Y6X4	338
ACP7	RHOD	O00212	336
ACP7	WDR70	Q9NW82	334
ACP7	NAALAD2	Q9Y3Q0	333

IntAct

22 interactions, top by confidence:

A	B	Type	Score
ACP7	MYCBP2	psi-mi:“MI:0915”(physical association)	0.400
CDK15	A2ML1	psi-mi:“MI:0914”(association)	0.350
ACP7	MYCBP2	psi-mi:“MI:0914”(association)	0.350
IP6K3	PROZ	psi-mi:“MI:0914”(association)	0.350
STX17	A2ML1	psi-mi:“MI:0914”(association)	0.350
OR2A4	A2ML1	psi-mi:“MI:0914”(association)	0.350
PPP2R2B	A2ML1	psi-mi:“MI:0914”(association)	0.350
GABPA	A2ML1	psi-mi:“MI:0914”(association)	0.350
CCR1	UBA6	psi-mi:“MI:0914”(association)	0.350
SSUH2	IGLC7	psi-mi:“MI:0914”(association)	0.350
RNF115	IGLC7	psi-mi:“MI:0914”(association)	0.350
C18orf21	A2ML1	psi-mi:“MI:0914”(association)	0.350
PINK1	A2ML1	psi-mi:“MI:0914”(association)	0.350
MMTAG2	A2ML1	psi-mi:“MI:0914”(association)	0.350
AGPAT1	A2ML1	psi-mi:“MI:0914”(association)	0.350
PHF11	A2ML1	psi-mi:“MI:0914”(association)	0.350
SLC25A6	A2ML1	psi-mi:“MI:0914”(association)	0.350
SARAF	A2ML1	psi-mi:“MI:0914”(association)	0.350
MBNL1	A2ML1	psi-mi:“MI:0914”(association)	0.350

BioGRID (32): PAPL (Affinity Capture-MS), PAPL (Affinity Capture-MS), MYCBP2 (Affinity Capture-MS), PDP2 (Affinity Capture-MS), WDR54 (Affinity Capture-MS), PAPL (Affinity Capture-RNA), PAPL (Affinity Capture-MS), PAPL (Affinity Capture-MS), PAPL (Affinity Capture-MS), MYCBP2 (Affinity Capture-MS), PAPL (Affinity Capture-MS), PAPL (Affinity Capture-MS), PAPL (Affinity Capture-MS), PAPL (Affinity Capture-MS), PAPL (Affinity Capture-MS)

ESM2 similar proteins: A5D6U8, O23244, O48840, O97860, P06865, P07686, P08236, P09889, P13686, P20060, P29240, P29288, P29416, P49614, P80366, Q05117, Q0V8R6, Q38924, Q53F39, Q5MAU8, Q5R5N6, Q5RC84, Q5RET5, Q5RFI5, Q641X3, Q641Z7, Q687E1, Q6AYS4, Q6TPH1, Q6ZNF0, Q8BX37, Q8H1R2, Q8S340, Q8S341, Q8VYU7, Q8VYZ2, Q93WP4, Q949Y3, Q99KR8, Q9BTY2

Diamond homologs: A5D6U8, Q6ZNF0, Q8BX37, Q93WP4, Q9LJU7, A0A9P5CTI1, O23244, O48840, P80366, Q09131, Q38924, Q6TPH1, Q8S340, Q949Y3, Q9C510, Q9C927, Q9LX83, Q9LXI4, Q9LXI7, Q9SDZ9, Q9SE00, Q9SFU3, Q9SI18, Q9SIV9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

11 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	4
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	Pathogenic
57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	Pathogenic
685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	Pathogenic

SpliceAI

1748 predictions. Top by Δscore:

Variant	Effect	Δscore
19:39084492:A:T	donor_gain	1.0000
19:39084508:GGGGG:G	donor_gain	1.0000
19:39084509:GGGGG:G	donor_gain	1.0000
19:39084510:G:T	donor_gain	1.0000
19:39098647:GGGT:G	donor_gain	1.0000
19:39098654:G:GG	donor_gain	1.0000
19:39098958:A:AG	acceptor_gain	1.0000
19:39098959:G:GG	acceptor_gain	1.0000
19:39098959:GT:G	acceptor_gain	1.0000
19:39098959:GTTT:G	acceptor_gain	1.0000
19:39100340:G:GT	donor_gain	1.0000
19:39100347:GCTA:G	donor_gain	1.0000
19:39100351:G:GG	donor_gain	1.0000
19:39100573:A:AG	acceptor_gain	1.0000
19:39100578:A:AG	acceptor_gain	1.0000
19:39100579:G:GG	acceptor_gain	1.0000
19:39100579:GC:G	acceptor_gain	1.0000
19:39100579:GCA:G	acceptor_gain	1.0000
19:39100579:GCAA:G	acceptor_gain	1.0000
19:39100734:TCCAG:T	acceptor_loss	1.0000
19:39100736:CAGCT:C	acceptor_loss	1.0000
19:39100737:A:AG	acceptor_gain	1.0000
19:39100737:AGCT:A	acceptor_gain	1.0000
19:39100737:AGCTG:A	acceptor_gain	1.0000
19:39100738:G:GC	acceptor_gain	1.0000
19:39100738:GCT:G	acceptor_gain	1.0000
19:39100738:GCTG:G	acceptor_gain	1.0000
19:39100738:GCTGG:G	acceptor_gain	1.0000
19:39100849:TCCAG:T	donor_loss	1.0000
19:39100850:CCAG:C	donor_loss	1.0000

AlphaMissense

2855 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:39099059:A:T	D141V	0.996
19:39100230:A:T	D170V	0.996
19:39100277:T:C	F186L	0.996
19:39100279:C:A	F186L	0.996
19:39100279:C:G	F186L	0.996
19:39100849:T:C	L268P	0.996
19:39100997:C:G	H286D	0.996
19:39099060:C:A	D141E	0.995
19:39099060:C:G	D141E	0.995
19:39100336:T:A	N205K	0.995
19:39100336:T:G	N205K	0.995
19:39100979:T:A	W280R	0.995
19:39100979:T:C	W280R	0.995
19:39100999:C:A	H286Q	0.995
19:39100999:C:G	H286Q	0.995
19:39101330:G:C	R339P	0.995
19:39099059:A:G	D141G	0.994
19:39100227:G:T	G169V	0.994
19:39100231:C:A	D170E	0.994
19:39100231:C:G	D170E	0.994
19:39100327:C:G	C202W	0.994
19:39100332:G:T	G204V	0.994
19:39100584:T:C	F212L	0.994
19:39100586:C:A	F212L	0.994
19:39100586:C:G	F212L	0.994
19:39101001:G:C	R287P	0.994
19:39099059:A:C	D141A	0.993
19:39100331:G:T	G204W	0.993
19:39100837:T:C	L264P	0.993
19:39101530:G:A	G369E	0.993

dbSNP variants (sampled 300 via entrez): RS1000072158 (19:39096121 C>G), RS1000310302 (19:39084598 C>A,G,T), RS1000332593 (19:39090868 A>G), RS1000385173 (19:39090507 G>A,C), RS1000392240 (19:39096659 C>G), RS1000402194 (19:39095917 G>T), RS1000564573 (19:39085889 G>A), RS1000596339 (19:39111445 A>AT), RS1000664806 (19:39092433 C>T), RS1000867604 (19:39099809 A>T), RS1000984686 (19:39107750 G>A,C), RS1001189442 (19:39085634 T>C), RS1001193563 (19:39106527 T>A,C), RS1001320706 (19:39100721 G>A,C), RS1001331797 (19:39107957 A>G)

Disease associations

OMIM: gene MIM:610490 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST001033_16	Type 2 diabetes	9.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
(+)-JQ1 compound	decreases expression	2
sotorasib	affects cotreatment, decreases expression	1
sodium arsenate	decreases expression, increases abundance	1
titanium dioxide	increases expression	1
beta-lapachone	increases expression	1
sodium arsenite	increases expression	1
ICG 001	increases expression	1
trametinib	affects cotreatment, decreases expression	1
NVP-BKM120	affects cotreatment, decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Temozolomide	decreases expression	1
Arsenic	decreases expression, increases abundance	1
Benzo(a)pyrene	decreases methylation	1
Oxygen	decreases expression	1
Silicon Dioxide	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.