PCMT1 - protein-L-isoaspartate (D-aspartate) O-methyltransferase Gene

Homo sapiens

Also known as PIMT

Gene ID: 5110 | Gene type: protein coding

About PCMT1

Cytogenetic location: 6q25.1 Genomic coordinates (GRCh38): 6:149,749,695-149,811,421 (from NCBI)

This gene has 11 transcripts (splice variants), 212 orthologues and 2 paralogues. Ubiquitous expression in brain (RPKM 58.1), heart (RPKM 34.4) and 25 other tissues.

Summary

This gene encodes a member of the type II class of protein carboxyl methyltransferase Enzymes. The encoded Enzyme plays a role in protein repair by recognizing and converting D-aspartyl and L-isoaspartyl residues resulting from spontaneous deamidation back to the normal L-aspartyl form. The encoded protein may play a protective role in the pathogenesis of Alzheimer's disease, and single nucleotide polymorphisms in this gene have been associated with spina bifida and premature ovarian failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]

PCMT1 Products(8)

mRNA	Protein	Name
NM_001252049.1	NP_001238978.1	protein-L-isoaspartate(D-aspartate) O-methyltransferase isoform 2
NM_001252050.1	NP_001238979.1	protein-L-isoaspartate(D-aspartate) O-methyltransferase isoform 3
NM_001252051.1	NP_001238980.1	protein-L-isoaspartate(D-aspartate) O-methyltransferase isoform 4
NM_001252052.1	NP_001238981.1	protein-L-isoaspartate(D-aspartate) O-methyltransferase isoform 5
NM_001252053.1	NP_001238982.1	protein-L-isoaspartate(D-aspartate) O-methyltransferase isoform 1
NM_001360452.2	NP_001347381.1	protein-L-isoaspartate(D-aspartate) O-methyltransferase isoform 6
NM_001360456.1	NP_001347385.1	protein-L-isoaspartate(D-aspartate) O-methyltransferase isoform 7
NM_005389.2	NP_005380.2	protein-L-isoaspartate(D-aspartate) O-methyltransferase isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	IDA IDA: Inferred from direct assay	3167043	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in protein methylation	IDA IDA: Inferred from direct assay	3167043	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

PCMT1 Protein Structure

PCMT

0
100
200
286 a.a.

Protein Preferred Names

Protein Names

protein-L-isoaspartate(D-aspartate) O-methyltransferase

L-isoaspartyl protein carboxyl methyltransferase

PCMT1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PCMT1	P22061	RPIA	Homo sapiens	P49247	Anti Tag CoIP	33961781
Intra	PCMT1	P22061	RPIA	Homo sapiens	P49247	Y2H Prey Pooling	25416956
Intra	PCMT1	P22061	RPIA	Homo sapiens	P49247	Y2H Array	25416956
Intra	PCMT1	P22061	AIMP2	Homo sapiens	Q13155	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Neural Tube Defects

Spina Bifida	Neural Tube Defect
NTD	Neural Tube Defects, Susceptibility To
Spinal Dysraphism	Spina Bifida, Susceptibility To
Rachischisis	Cleft Spine
Open Spine	Hydrocele Spinalis
Neural Tube Defect Nos	Sb - [Spina Bifida]
Spinal Hernia Nos	Spinal Fissure Nos

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-RS10157	PCMT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PCMT1	RGD	RGD:3268
Macaca mulatta	PCMT1	VGNC	VGNC:83441
Canis familiaris	PCMT1	VGNC	VGNC:54851
Felis catus	PCMT1	VGNC	VGNC:102481
Bos taurus	PCMT1	VGNC	VGNC:53799
Mus musculus	PCMT1	MGD	MGI:97502

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