ACYP1

Summary

ACYP1 (acylphosphatase 1, HGNC:179) is a protein-coding gene on chromosome 14q24.3, encoding Acylphosphatase-1 (P07311).

This gene is a member of the acylphosphatase family. The encoded protein is a small cytosolic enzyme that catalyzes the hydrolysis of the carboxyl-phosphate bond of acylphosphates. Two isoenzymes have been isolated and described based on their tissue localization: erythrocyte (common) type acylphosphatase encoded by this gene, and muscle type acylphosphatase. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 97 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 13 total
• MANE Select transcript: NM_001107

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:179
Approved symbol	ACYP1
Name	acylphosphatase 1
Location	14q24.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000119640
Ensembl biotype	protein_coding
OMIM	600875
Entrez	97

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 11 protein_coding

ENST00000238618, ENST00000357971, ENST00000553302, ENST00000555135, ENST00000555463, ENST00000555694, ENST00000918375, ENST00000918376, ENST00000918377, ENST00000918378, ENST00000918379

RefSeq mRNA: 3 — MANE Select: NM_001107 NM_001107, NM_001302616, NM_001302617

CCDS: CCDS76706, CCDS9838

Canonical transcript exons

ENST00000238618 — 3 exons

Exon	Start	End
ENSE00002495279	75063954	75064024
ENSE00003576569	75053243	75053659
ENSE00003598501	75063470	75063561

Expression profiles

Bgee: expression breadth ubiquitous, 276 present calls, max score 95.69.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.5274 / max 186.5970, expressed in 1779 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
144097	13.4778	1733
144100	1.7911	812
144098	0.1428	70
144099	0.1157	45

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	95.69	gold quality
right lung	UBERON:0002167	95.49	gold quality
ventricular zone	UBERON:0003053	95.11	gold quality
ganglionic eminence	UBERON:0004023	94.87	gold quality
cortical plate	UBERON:0005343	94.52	gold quality
pituitary gland	UBERON:0000007	94.15	gold quality
middle temporal gyrus	UBERON:0002771	93.92	gold quality
adenohypophysis	UBERON:0002196	93.87	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.86	gold quality
right lobe of thyroid gland	UBERON:0001119	93.53	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	93.35	gold quality
Brodmann (1909) area 23	UBERON:0013554	93.28	gold quality
left lobe of thyroid gland	UBERON:0001120	93.26	gold quality
lateral nuclear group of thalamus	UBERON:0002736	93.22	gold quality
pons	UBERON:0000988	93.19	gold quality
cingulate cortex	UBERON:0003027	93.08	gold quality
mucosa of transverse colon	UBERON:0004991	93.06	gold quality
anterior cingulate cortex	UBERON:0009835	93.01	gold quality
right frontal lobe	UBERON:0002810	92.99	gold quality
cerebellar hemisphere	UBERON:0002245	92.92	gold quality
cerebellar cortex	UBERON:0002129	92.87	gold quality
oocyte	CL:0000023	92.85	gold quality
thyroid gland	UBERON:0002046	92.84	gold quality
nucleus accumbens	UBERON:0001882	92.66	gold quality
right hemisphere of cerebellum	UBERON:0014890	92.66	gold quality
amygdala	UBERON:0001876	92.55	gold quality
right adrenal gland cortex	UBERON:0035827	92.45	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	92.34	gold quality
spinal cord	UBERON:0002240	92.30	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	92.28	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.75

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

31 targeting ACYP1, 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-1277-5P	100.00	73.95	5056
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-3177-5P	99.65	70.38	1174
HSA-MIR-497-3P	99.61	69.71	1990
HSA-MIR-182-3P	99.57	67.57	825
HSA-MIR-543	99.52	69.03	2595
HSA-MIR-6719-3P	99.29	67.78	1387
HSA-MIR-3675-3P	99.09	67.70	968
HSA-MIR-181A-2-3P	98.91	67.60	1168
HSA-MIR-6884-3P	98.05	65.32	750

Literature-anchored findings (GeneRIF, showing 3)

• Data show that CT acylphosphatase catalyzes the hydrolysis of aryl phosphates and acyl phosphates by two different mechanisms. (PMID:12409302)
• two products of the ACYP1 gene are characterized as the result of alternative splicing in which an extra 79 bp long exon is inserted between the two known exons (PMID:14992377)
• Clinical Significance of Acylphosphatase 1 Expression in Combined HCC-iCCA, HCC, and iCCA. (PMID:34626299)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
drosophila_melanogaster	Acyp	FBGN0025115
drosophila_melanogaster	CG18371	FBGN0033893
drosophila_melanogaster	Acyp2	FBGN0038363
drosophila_melanogaster	CG11052	FBGN0040524
drosophila_melanogaster	CG34161	FBGN0085190

Paralogs (1): ACYP2 (ENSG00000170634)

Protein

Protein identifiers

Acylphosphatase-1 — P07311 (reviewed: P07311)

Alternative names: Acylphosphatase, erythrocyte isozyme, Acylphosphatase, organ-common type isozyme, Acylphosphate phosphohydrolase 1

All UniProt accessions (4): P07311, G3V2U7, G3V3F8, G3V597

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Organ-common type isozyme is found in many different tissues.

Similarity. Belongs to the acylphosphatase family.

Isoforms (2)

UniProt ID	Names	Canonical?
P07311-1	1	yes
P07311-2	2

RefSeq proteins (3): NP_001098, NP_001289545, NP_001289546 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001792	Acylphosphatase-like_dom	Domain
IPR017968	Acylphosphatase_CS	Conserved_site
IPR020456	Acylphosphatase	Family
IPR036046	Acylphosphatase-like_dom_sf	Homologous_superfamily

Pfam: PF00708

Catalyzed reactions (Rhea), 1 shown:

• an acyl phosphate + H2O = a carboxylate + phosphate + H(+) (RHEA:14965)

UniProt features (17 total): strand 8, helix 2, active site 2, initiator methionine 1, chain 1, domain 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

7 structures.

PDB	Method	Resolution (Å)
6CBU	X-RAY DIFFRACTION	1.2
2VH7	X-RAY DIFFRACTION	1.45
2W4C	X-RAY DIFFRACTION	1.52
2W4P	X-RAY DIFFRACTION	1.7
3TOQ	X-RAY DIFFRACTION	2
2K7J	SOLUTION NMR
2K7K	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P07311-F1	96.57	0.94

Functional residue map

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

Catalytic / active sites (2): 24; 42

Post-translational modifications (1): 2

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 167 (showing top): FISCHER_G1_S_CELL_CYCLE, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, PUJANA_CHEK2_PCC_NETWORK, chr14q24, MARTINEZ_RB1_TARGETS_DN, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, YANAGISAWA_LUNG_CANCER_RECURRENCE, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_UP, TIEN_INTESTINE_PROBIOTICS_24HR_UP, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP, DOUGLAS_BMI1_TARGETS_UP, KANG_IMMORTALIZED_BY_TERT_DN, ZHANG_BREAST_CANCER_PROGENITORS_UP, SASAKI_ADULT_T_CELL_LEUKEMIA, GRUETZMANN_PANCREATIC_CANCER_UP

GO Biological Process (1): phosphate-containing compound metabolic process (GO:0006796)

GO Molecular Function (2): acylphosphatase activity (GO:0003998), hydrolase activity (GO:0016787)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
metabolic process	1
pyrophosphatase activity	1
catalytic activity	1

Protein interactions and networks

STRING

618 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ACYP1	NDUFAB1	O14561	666
ACYP1	COMMD4	Q9H0A8	476
ACYP1	ZNF12	P17014	436
ACYP1	DOLPP1	Q86YN1	381
ACYP1	CCDC62	Q6P9F0	374
ACYP1	OPLAH	O14841	370
ACYP1	CCDC61	Q9Y6R9	361
ACYP1	ADPRHL1	Q8NDY3	358
ACYP1	CKMT2	P17540	353
ACYP1	TTC32	Q5I0X7	352
ACYP1	PRXL2C	Q7RTV5	348
ACYP1	TTC5	Q8N0Z6	338
ACYP1	POLR1A	O95602	320
ACYP1	IAPP	P10997	311
ACYP1	BRICD5	Q6PL45	307

IntAct

2 interactions, top by confidence:

A	B	Type	Score
ERBB3	ACYP1	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (7): ACYP1 (Two-hybrid), ACYP1 (Affinity Capture-RNA), ACYP1 (Affinity Capture-RNA), SERPINB8 (Co-fractionation), ACYP1 (Affinity Capture-MS), UGGT1 (Cross-Linking-MS (XL-MS)), APP (Reconstituted Complex)

ESM2 similar proteins: B0BN85, B4G0F3, B8BKI7, C6JS30, O00244, O08997, O74735, O76003, O81187, P07178, P07311, P13439, P19356, P22907, P24540, P31754, P38636, P41500, P55142, P55143, P56376, Q0V9A9, Q28C69, Q28ID3, Q2KIK0, Q2R483, Q3T0E0, Q53H82, Q54PZ2, Q5R514, Q5RAL9, Q5XGR8, Q5XJ54, Q5XK67, Q61035, Q6DBT3, Q8L8T2, Q8W1X2, Q94BT9, Q96EK6

Diamond homologs: A0LI66, A1A9N7, A1JMX0, A1KAG5, A1RU25, A1RZ22, A1S579, A1SPV1, A1WDC8, A1WUX3, A3MU96, A3MYL5, A4IKB1, A4W8Y0, A4WHP6, A5D1R6, A5GA97, A5GS00, A5UQ40, A5VFP2, A6T769, A6UH73, A6VA18, A6VN24, A7FJR7, A7H8A3, A7ME43, A7Z2E2, A8AIA9, A8FAY5, A8GCM9, A8I5S8, A9FGA8, A9MHS1, A9WAI7, O35031, P00818, P00819, P00820, P00821

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	8
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

877 predictions. Top by Δscore:

Variant	Effect	Δscore
14:75063952:ACCCT:A	donor_gain	1.0000
14:75063953:CCCTC:C	donor_gain	1.0000
14:75060177:AT:A	donor_gain	0.9900
14:75063467:TACCT:T	donor_loss	0.9900
14:75063469:C:CT	donor_loss	0.9900
14:75063573:C:CT	acceptor_gain	0.9900
14:75063574:A:T	acceptor_gain	0.9900
14:75063952:AC:A	donor_gain	0.9900
14:75063953:CC:C	donor_gain	0.9900
14:75063956:T:TA	donor_gain	0.9900
14:75053656:CAGC:C	acceptor_gain	0.9800
14:75053661:T:A	acceptor_loss	0.9800
14:75060118:C:CT	donor_gain	0.9800
14:75063498:TGC:T	donor_gain	0.9800
14:75063562:C:CG	acceptor_loss	0.9800
14:75063563:T:A	acceptor_loss	0.9800
14:75063953:CCCT:C	donor_gain	0.9800
14:75063464:ACATA:A	donor_loss	0.9700
14:75063573:C:T	acceptor_gain	0.9700
14:75063949:CTCA:C	donor_loss	0.9700
14:75063951:CA:C	donor_loss	0.9700
14:75063952:A:AC	donor_gain	0.9700
14:75063952:ACC:A	donor_loss	0.9700
14:75063953:C:CC	donor_gain	0.9700
14:75063953:C:CG	donor_loss	0.9700
14:75063965:T:TA	donor_gain	0.9700
14:75069386:G:GG	donor_gain	0.9700
14:75053660:C:CC	acceptor_gain	0.9600
14:75054849:C:CT	acceptor_gain	0.9600
14:75063482:A:AC	donor_gain	0.9600

AlphaMissense

648 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:75063507:C:T	G16E	0.985
14:75053531:A:C	S71R	0.983
14:75053531:A:T	S71R	0.983
14:75053533:T:G	S71R	0.983
14:75053631:C:T	G38D	0.982
14:75063507:C:A	G16V	0.980
14:75053595:C:T	G50E	0.978
14:75063484:G:T	R24S	0.978
14:75053625:A:T	V40D	0.977
14:75053652:C:T	G31D	0.977
14:75053653:C:G	G31R	0.977
14:75053632:C:G	G38R	0.975
14:75053584:C:G	G54R	0.974
14:75053596:C:G	G50R	0.974
14:75053596:C:T	G50R	0.974
14:75053460:A:G	F95S	0.972
14:75053551:A:G	W65R	0.972
14:75053551:A:T	W65R	0.972
14:75053459:G:C	F95L	0.971
14:75053459:G:T	F95L	0.971
14:75053461:A:G	F95L	0.971
14:75063488:A:C	F22L	0.970
14:75063488:A:T	F22L	0.970
14:75063490:A:G	F22L	0.970
14:75053601:A:T	V48E	0.968
14:75053618:G:C	N42K	0.968
14:75053618:G:T	N42K	0.968
14:75053547:A:G	L66P	0.965
14:75053547:A:T	L66H	0.965
14:75063508:C:A	G16W	0.964

dbSNP variants (sampled 300 via entrez): RS1000336708 (14:75070589 C>A,T), RS1000554238 (14:75059978 G>A), RS1000750374 (14:75062291 T>G), RS1000993243 (14:75063652 A>C,G,T), RS1001045360 (14:75063836 C>A), RS1001264813 (14:75056717 A>G), RS1001273923 (14:75068177 G>A), RS1001373950 (14:75061049 A>G), RS1001681319 (14:75067445 G>T), RS1001776086 (14:75067617 G>A,T), RS1001833581 (14:75059408 A>C), RS1001845317 (14:75058318 G>A,C), RS1001908258 (14:75059701 A>G), RS1001998381 (14:75065311 G>A,C), RS1002109578 (14:75065815 G>A)

Disease associations

OMIM: gene MIM:600875 | disease phenotypes: MIM:257220, MIM:607625

GenCC curated gene-disease

Mondo (2): Niemann-Pick disease, type C1 (MONDO:0009757), Niemann-Pick disease, type C2 (MONDO:0011873)

Orphanet (1): Niemann-Pick disease type C (Orphanet:646)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST006949_5	Suffering from nerves	5.000000e-09

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C536119	Niemann-Pick disease, type C2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

42 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects expression, affects cotreatment, decreases expression, increases expression	4
Valproic Acid	affects expression, decreases expression, increases expression	3
Cyclosporine	affects expression, decreases expression	3
Resveratrol	affects cotreatment, increases expression	2
Benzo(a)pyrene	increases expression, increases methylation	2
Estradiol	increases reaction, affects expression, affects binding	2
Smoke	decreases expression, increases abundance	2
Tretinoin	decreases expression, affects cotreatment	2
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
cobaltous chloride	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	increases expression, affects cotreatment	1
resorcinol	increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
K 7174	increases expression	1
ICG 001	decreases expression	1
jinfukang	increases expression	1
Temozolomide	increases expression	1
Sunitinib	decreases expression	1
Arsenic Trioxide	decreases expression	1
Leflunomide	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Amiodarone	increases expression	1
Carbamazepine	affects expression	1
Coumestrol	affects cotreatment, increases expression	1
Drugs, Chinese Herbal	increases expression	1
Ethyl Methanesulfonate	increases expression	1
Hydrogen Peroxide	affects expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04860960	PHASE3	ACTIVE_NOT_RECRUITING	Phase 3 Study to Evaluate Intravenous Trappsol(R) Cyclo(TM) in Pediatric and Adult Patients With Niemann-Pick Disease Type C1
NCT01747135	PHASE1	COMPLETED	Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease
NCT02939547	PHASE1	COMPLETED	Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1)
NCT03893071	PHASE1	UNKNOWN	Open-Label Study of Long-Term Safety and Efficacy of Intravenous Trappsol Cyclo (HPβCD) in Niemann-Pick Disease Type C
NCT02912793	PHASE1/PHASE2	COMPLETED	Safety and Efficacy of Intravenous Trappsol Cyclo (HPBCD) in Niemann-Pick Type C Patients
NCT03887533	PHASE1/PHASE2	TERMINATED	Combined Intrathecal and Intravenous VTS-270 Therapy for Liver and Neurological Disease Associated With Niemann-Pick Disease, Type C1
NCT03201627	EARLY_PHASE1	UNKNOWN	Study of Lithium Carbonate to Treat Niemann-Pick Type C1 Disease
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT05642221	Not specified	COMPLETED	Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls