ABHD17C (abhydrolase domain containing 17C, depalmitoylase)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 58489
Gene name Abhydrolase domain containing 17C, depalmitoylase
Gene symbol ABHD17C
Synonyms (NCBI Gene)
FAM108C1
Chromosome 15
Chromosome location 15q25.1
miRNA miRNA information provided by mirtarbase database.
106
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (106)
miRTarBase ID miRNA Experiments Reference
MIRT021539 hsa-miR-145-5p Reporter assay;Microarray 21351259
MIRT021917 hsa-miR-128-3p Sequencing 20371350
MIRT027303 hsa-miR-101-3p Sequencing 20371350
MIRT028741 hsa-miR-27a-3p Sequencing 20371350
MIRT047033 hsa-miR-183-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (25)
GO ID Ontology Definition Evidence Reference
GO:0002084 Process Protein depalmitoylation IGI 26701913
GO:0002084 Process Protein depalmitoylation IMP 26701913
GO:0005515 Function Protein binding IPI 32814053
GO:0005768 Component Endosome IEA
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617944 26925 ENSG00000136379
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6PCB6
Protein name Alpha/beta hydrolase domain-containing protein 17C (Abhydrolase domain-containing protein 17C) (EC 3.1.2.22)
Protein function Hydrolyzes fatty acids from S-acylated cysteine residues in proteins. Has depalmitoylating activity towards NRAS and DLG4/PSD95.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12146 Hydrolase_4 129 → 249 Serine aminopeptidase, S33 Family
Sequence 
MPEPGPRMNGFSLGELCWLFCCPPCPSRIAAKLAFLPPEPTYTVLAPEQRGAGASAPAPA
QATAAAAAAQPAPQQPEEGAGAGPGACSLHLSERADWQYSQRELDAVEVFFSRTARDNRL
GCMFVRCAPSSRYTLLFSHGNAVDLGQMCSFYIGLGSRINCNIFSYDYSGYGVSSGKPSE
KNLYADIDAAWQALRTRYGVSPENIILYGQSIGTVPTVDLASRYECAAVILHSPLMSGLR
VAFPDTRKTYCFDAFPSIDKISKVTSPVLVIHGTEDEVIDFSHGLAMYERCPRAVEPLWV
EGAGHNDIELYAQYLERLKQFISHELPNS
Sequence length 329
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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 Unknown Diseases (20)
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
ATRIAL FIBRILLATION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Atrial Fibrillation Atrial Fibrillation GWASCAT_DG 30061737
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases Cardiovascular Diseases GWASCAT_DG 30595370
★★★★★
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular disease Pubtator 34083597 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only