Gene Gene information from NCBI Gene database.
Entrez ID 115294
Gene name Protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1
Gene symbol PCMTD1
Synonyms (NCBI Gene)
-
Chromosome 8
Chromosome location 8q11.23
miRNA miRNA information provided by mirtarbase database.
572
miRTarBase ID miRNA Experiments Reference
MIRT017253 hsa-miR-335-5p Microarray 18185580
MIRT049533 hsa-miR-92a-3p qRT-PCR 23622248
MIRT049533 hsa-miR-92a-3p CLASH 23622248
MIRT040682 hsa-miR-92b-3p CLASH 23622248
MIRT722701 hsa-miR-320a HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0004719 Function Protein-L-isoaspartate (D-aspartate) O-methyltransferase activity IBA
GO:0005515 Function Protein binding IPI 32814053
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0008757 Function S-adenosylmethionine-dependent methyltransferase activity IDA 35486881
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620091 30483 ENSG00000168300
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96MG8
Protein name Protein-L-isoaspartate O-methyltransferase domain-containing protein 1
Protein function Substrate recognition component of an ECS (Elongin BC-CUL5-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:35486881). Specifically binds to the met
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01135 PCMT 9 224 Family
Sequence
Sequence length 357
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Carcinoma Squamous Cell Associate 30377206
★☆☆☆☆
Found in Text Mining only
Depressive Disorder Associate 38051303
★☆☆☆☆
Found in Text Mining only
Glaucoma Angle Closure Associate 23505305, 23847314
★☆☆☆☆
Found in Text Mining only
Heart Failure Associate 32852391
★☆☆☆☆
Found in Text Mining only
Jacobs syndrome Associate 23847314
★☆☆☆☆
Found in Text Mining only
Systemic Inflammatory Response Syndrome Associate 32852391
★☆☆☆☆
Found in Text Mining only