1. Gene
  2. PCMTD1 - protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 Gene

PCMTD1 - protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 Gene

Homo sapiens
Gene ID: 115294 | Gene type: protein coding

About PCMTD1

Cytogenetic location: 8q11.23 Genomic coordinates (GRCh38): 8:51,817,575-51,899,186 (from NCBI)

This gene has 8 transcripts (splice variants), 213 orthologues and 2 paralogues. Ubiquitous expression in thyroid (RPKM 31.9), fat (RPKM 21.9) and 25 other tissues.

Summary

Predicted to enable protein-L-isoaspartate (D-aspartate) O-methyltransferase activity. Predicted to be involved in protein methylation. Predicted to be located in membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

PCMTD1 Products(4)

mRNA Protein Name
NM_001286782.1 NP_001273711.1 protein-L-isoaspartate O-methyltransferase domain-containing protein 1 isoform 2
NM_001286783.2 NP_001273712.1 protein-L-isoaspartate O-methyltransferase domain-containing protein 1 isoform 3
NM_001363193.1 NP_001350122.1 protein-L-isoaspartate O-methyltransferase domain-containing protein 1 isoform 4
NM_052937.4 NP_443169.2 protein-L-isoaspartate O-methyltransferase domain-containing protein 1 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
NOT enables S-adenosylmethionine-dependent methyltransferase activity IDA
IDA: Inferred from direct assay
35486881 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32814053 GOA
enables ubiquitin-like ligase-substrate adaptor activity IDA
IDA: Inferred from direct assay
35486881 GOA
Biological Process GO Annotation Evidence Reference Source
involved in protein ubiquitination IDA
IDA: Inferred from direct assay
35486881 GOA
Cellular Component GO Annotation Evidence Reference Source
part of Cul5-RING ubiquitin ligase complex IDA
IDA: Inferred from direct assay
35486881 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PCMTD1 Protein Structure

PCMT

PCMT: Protein-L-isoaspartate(D-aspartate) O-methyltransferase (PCMT) (10 - 221)

  • 0
  • 100
  • 200
  • 300
  • 357 a.a.
Protein Preferred Names Protein Names

protein-L-isoaspartate O-methyltransferase domain-containing protein 1

PCMTD1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
PCMTD1 Q96MG8 PRKN Homo sapiens O60260-5 32814053
Intra
PCMTD1 Q96MG8 PRKN Homo sapiens O60260-5 32814053
Intra
PCMTD1 Q96MG8 PRKN Homo sapiens O60260-5 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Primary Angle-Closure Glaucoma

Primary Angle Closure Glaucoma

Angle Closure Glaucoma

Acg - [Angle Closure Glaucoma]

Angle-Closure Glaucoma

Closed Angle Glaucoma

Acute Glaucoma

Prodromal Angle Closure Glaucoma

Marshall Syndrome

MRSHS

Deafness, Myopia, Cataract, Saddle Nose-Marshall Type

Periodic Fever, Aphthous Stomatitis, Pharyngitis And Adenitis

Pfapa Syndrome

Pfapa

Marshall Syndrome With Periodic Fever

Periodic Fever-Aphtous Stomatitis-Pharyngitis-Adenopathy Syndrome

Stickler Syndrome

Arthroophthalmopathy

Hereditary Arthro-Ophthalmo-Dystrophy

Hereditary Arthro-Ophthalmopathy

Stickler Dysplasia

Hereditary Progressive Arthroophthalmopathy

Stickler Syndrome, Type 1

Nanophthalmos

Nanophthalmia

Glaucoma, Primary Open Angle

Glaucoma 1, Open Angle, E

Primary Open Angle Glaucoma

POAG

Adult-Onset Primary Open Angle Glaucoma

Chronic Simple Glaucoma

GLC1E

Primary Open Angle Glaucoma 1e

Glaucoma, Open Angle, Primary

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris PCMTD1 VGNC VGNC:53547
Macaca mulatta PCMTD1 VGNC VGNC:84099
Mus musculus PCMTD1 MGD MGI:2441773
Rattus norvegicus PCMTD1 RGD RGD:1586096
Bos taurus PCMTD1 VGNC VGNC:53871