Gene Gene information from NCBI Gene database.
Entrez ID 97
Gene name Acylphosphatase 1
Gene symbol ACYP1
Synonyms (NCBI Gene)
ACYPE
Chromosome 14
Chromosome location 14q24.3
Summary 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 loca
miRNA miRNA information provided by mirtarbase database.
26
miRTarBase ID miRNA Experiments Reference
MIRT441265 hsa-miR-374a-5p HITS-CLIP 22473208
MIRT728392 hsa-miR-181a-5p HITS-CLIP 22473208
MIRT728393 hsa-miR-181b-5p HITS-CLIP 22473208
MIRT728391 hsa-miR-181c-5p HITS-CLIP 22473208
MIRT728390 hsa-miR-181d-5p HITS-CLIP 22473208
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0003998 Function Acylphosphatase activity IBA
GO:0003998 Function Acylphosphatase activity IEA
GO:0003998 Function Acylphosphatase activity TAS 7796909
GO:0006796 Process Phosphate-containing compound metabolic process TAS 3026468
GO:0016787 Function Hydrolase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600875 179 ENSG00000119640
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P07311
Protein name Acylphosphatase-1 (EC 3.6.1.7) (Acylphosphatase, erythrocyte isozyme) (Acylphosphatase, organ-common type isozyme) (Acylphosphate phosphohydrolase 1)
PDB 2K7J , 2K7K , 2VH7 , 2W4C , 2W4P , 3TOQ , 6CBU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00708 Acylphosphatase 10 97 Acylphosphatase Domain
Tissue specificity TISSUE SPECIFICITY: Organ-common type isozyme is found in many different tissues.
Sequence
Sequence length 99
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Pyruvate metabolism
Metabolic pathways
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
BRAIN ATROPHY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NIEMANN-PICK DISEASE, TYPE C1 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NIEMANN-PICK DISEASE, TYPE C2 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 33188160 Associate
★☆☆☆☆
Found in Text Mining only
Gastrointestinal Stromal Tumors Gastrointestinal stromal tumor Pubtator 30103756 Associate
★☆☆☆☆
Found in Text Mining only
Myocardial Infarction Myocardial infarction Pubtator 35886020 Associate
★☆☆☆☆
Found in Text Mining only