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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 115294

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	Verweise	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	Verweise	Source
involved in protein ubiquitination	IDA IDA: Inferred from direct assay	35486881	GOA

Cellular Component GO Annotation	Evidence	Verweise	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

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	Verweise
Intra	PCMTD1	Q96MG8	PRKN	Homo sapiens	O60260-5	Validated Y2H	32814053
Intra	PCMTD1	Q96MG8	PRKN	Homo sapiens	O60260-5	Y2H Pooling	32814053
Intra	PCMTD1	Q96MG8	PRKN	Homo sapiens	O60260-5	Y2H Array	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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS10158	PCMTD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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
Others	PCMTD1	NCBI