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

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10158	PCMTD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.