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

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

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

PCMT1 Protein Structure

PCMT

PCMT: Protein-L-isoaspartate(D-aspartate) O-methyltransferase (PCMT) (67 - 278)

  • 0
  • 100
  • 200
  • 286 a.a.
Protein Preferred Names Protein Names

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

L-isoaspartyl protein carboxyl methyltransferase

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 / 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