Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
115294
Gene name Gene Name - the full gene name approved by the HGNC.
Protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PCMTD1
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q11.23
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
620091 30483 ENSG00000168300
Protein
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Mental Depression Major depressive disorder N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Squamous Cell Associate 30377206
Depressive Disorder Associate 38051303
Glaucoma Angle Closure Associate 23505305, 23847314
Heart Failure Associate 32852391
Jacobs syndrome Associate 23847314
Systemic Inflammatory Response Syndrome Associate 32852391