PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase [Homo sapiens] - Gene

Help top of page

Summary

Official Symbol: PCMT1provided by HGNC
Official Full Name: protein-L-isoaspartate (D-aspartate) O-methyltransferaseprovided by HGNC
Primary source: HGNC:8728
See related: Ensembl:ENSG00000120265; HPRD:08908; MIM:176851; Vega:OTTHUMG00000015794
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PIMT
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]

Help top of page

Genomic context

Location :: 6q24-q25

Sequence :: Chromosome: 6; NC_000006.11 (150070831..150132557)

See PCMT1 in Epigenomics, MapViewer

Chromosome 6 - NC_000006.11 Genomic Context describing neighboring genes

Help top of page

Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Help top of page

Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Control of PCMT1 expression by microRNA 15a/16-1 may thus represent a late checkpoint in apoptosis regulation
Title: The microRNA 15a/16-1 cluster down-regulates protein repair isoaspartyl methyltransferase in hepatoma cells: implications for apoptosis regulation.
A tight cross-regulation exists between ERK and PIMT in regards to their activation and expression during the epithelial mesenchymal transition.
Title: Cross-regulation between protein L-isoaspartyl O-methyltransferase and ERK in epithelial mesenchymal transition of MDA-MB-231 cells.
Data show six differentially expressed proteins were identified as HSP70, PPIA and alpha-Enolase (up-regulated) S100-A9, PIMT and beta-5 tubulin (down-regulated), most of which had been shown to play a potential role in the pathogenesis of atherosclero...
Title: Pentoxifylline administration changes protein expression profile of coronary artery disease patients.
study demonstrates a novel role for PIMT as a negative regulator of Abeta peptide formation and a potential protective factor in the pathogenesis of Alzheimer disease
Title: Knock-down of protein L-isoaspartyl O-methyltransferase increases β-amyloid production by decreasing ADAM10 and ADAM17 levels.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
This protein has been found differentially expressed in thalami from patients with schizophrenia.
Title: Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.
Four polymorphisms in the protein L-isoaspartyl-O-methyltransferase (PCMT1) gene, encoding a protein repair enzyme, are associated with premature ovarian failure (POF).
Title: Association between polymorphisms in the protein L-isoaspartate (D-aspartate) O-methyltransferase gene and premature ovarian failure.
This protein has been found differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia.
Title: Proteomic analysis of dorsolateral prefrontal cortex indicates the involvement of cytoskeleton, oligodendrocyte, energy metabolism and new potential markers in schizophrenia.
These results suggest that PIMT repair of abnormal proteins is necessary to maintain normal MAPK signaling.
Title: Suppression of protein l-isoaspartyl (d-aspartyl) methyltransferase results in hyperactivation of EGF-stimulated MEK-ERK signaling in cultured mammalian cells.
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.

Submit: New GeneRIF Correction See all (14)

Help top of page

Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Help top of page

Products	Interactant	Other Gene	Source	Pubs	Description
P22061	P02647	APOA1	HPRD	PubMed
P22061	Q12873	CHD3	HPRD	PubMed
P22061	Q92793	CREBBP	HPRD	PubMed
BioGRID:111141	BioGRID:107532	CHD3	BioGRID	PubMed	Two-hybrid
BioGRID:111141	BioGRID:114023	DYRK2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:111141	BioGRID:115578	EIF1B	BioGRID	PubMed	Affinity Capture-MS
BioGRID:111141	BioGRID:115331	HDAC5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:111141	BioGRID:117417	POT1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:111141	BioGRID:112872	TERF1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:111141	BioGRID:112873	TERF2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:111141	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:111141	BioGRID:113269	VHL	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	TAS Traceable Author Statement more info	PubMed
transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
S-adenosylhomocysteine metabolic process	IEA Inferred from Electronic Annotation more info
S-adenosylmethionine metabolic process	IEA Inferred from Electronic Annotation more info
protein methylation	IEA Inferred from Electronic Annotation more info
protein modification process	IEA Inferred from Electronic Annotation more info
protein repair	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
endoplasmic reticulum	TAS Traceable Author Statement more info	PubMed

General protein information

Preferred Names: protein-L-isoaspartate(D-aspartate) O-methyltransferase

Names: protein-L-isoaspartate(D-aspartate) O-methyltransferase; protein-beta-aspartate methyltransferase; L-isoaspartyl protein carboxyl methyltransferase; protein L-isoaspartyl/D-aspartyl methyltransferase

NP_005380.2

EC 2.1.1.77

Help top of page

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001252049.1 → NP_001238978.1 protein-L-isoaspartate(D-aspartate) O-methyltransferase isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift compared to variant 1. The encoded isoform (2) has a longer and distinct C-terminus, compared to isoform 1.

Source sequence(s)

BX438393, CA441980, D13892, DC339361

UniProtKB/TrEMBL

H7BY58

UniProtKB/Swiss-Prot

P22061

Conserved Domains (2) summary

cd02440
Location:139 – 241
Blast Score: 113

AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

pfam01135
Location:66 – 279
Blast Score: 808

PCMT; Protein-L-isoaspartate(D-aspartate) O-methyltransferase (PCMT)
NM_001252050.1 → NP_001238979.1 protein-L-isoaspartate(D-aspartate) O-methyltransferase isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an exon in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

AK098739, BC018569, BX438393, CA441980

Conserved Domains (2) summary

pfam01135
Location:66 – 244
Blast Score: 630

PCMT; Protein-L-isoaspartate(D-aspartate) O-methyltransferase (PCMT)

cl16911
Location:112 – 206
Blast Score: 149

AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
NM_001252051.1 → NP_001238980.1 protein-L-isoaspartate(D-aspartate) O-methyltransferase isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an exon in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.

Source sequence(s)

AA442100, AK304532, BC018569, BX438393, CA441980, DC339361

UniProtKB/TrEMBL

B7Z972

Conserved Domains (1) summary

cd02440
Location:104 – 206
Blast Score: 111

AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
NM_001252052.1 → NP_001238981.1 protein-L-isoaspartate(D-aspartate) O-methyltransferase isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an in-frame coding exon and uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (5) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AL539512, AW025538, BE262147, BX438393, CA441980, DB478200

Conserved Domains (2) summary

pfam01135
Location:66 – 244
Blast Score: 628

PCMT; Protein-L-isoaspartate(D-aspartate) O-methyltransferase (PCMT)

cl16911
Location:112 – 206
Blast Score: 149

AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
NM_001252053.1 → NP_001238982.1 protein-L-isoaspartate(D-aspartate) O-methyltransferase isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 3' UTR compared to variant 1. Variants 1 and 6 encode the same isoform (1).

Source sequence(s)

AI220702, BX438393, D25547, DC421281

UniProtKB/Swiss-Prot

P22061

Conserved Domains (2) summary

cd02440
Location:139 – 241
Blast Score: 114

AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

pfam01135
Location:66 – 279
Blast Score: 810

PCMT; Protein-L-isoaspartate(D-aspartate) O-methyltransferase (PCMT)
NM_005389.2 → NP_005380.2 protein-L-isoaspartate(D-aspartate) O-methyltransferase isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 6 encode the same isoform (1).

Source sequence(s)

BC018569, BX438393, CA441980, CX786396, DC356391

Consensus CDS

CCDS5219.2

Related

ENSP00000420813, OTTHUMP00000017398, ENST00000464889, OTTHUMT00000042651

Conserved Domains (2) summary

cd02440
Location:139 – 241
Blast Score: 114

AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

pfam01135
Location:66 – 279
Blast Score: 810

PCMT; Protein-L-isoaspartate(D-aspartate) O-methyltransferase (PCMT)

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000006.11 Reference GRCh37.p5 Primary Assembly

Range

150070831..150132557

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000138.1 Alternate HuRef

Range

147636598..147698401

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Help top of page

Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL355312.24	CAH72862.1
		CAH72863.1
genomic	CH471051.2	EAW47786.1
		EAW47787.1
		EAW47788.1
genomic	S73902.1	AAC60639.2
genomic	S73903.1	AAC60640.1
genomic	S73905.1	AAC60641.2
genomic	U49740.1	AAB38386.1
mRNA	AA442100.1	None
mRNA	AI220702.1	None
mRNA	AK098739.1	None
mRNA	AK129778.1	None
mRNA	AK289724.1	BAF82413.1
mRNA	AK304532.1	BAH14208.1
mRNA	AL539512.3	None
mRNA	AW025538.1	None
mRNA	BC007501.2	AAH07501.1
mRNA	BC008748.2	AAH08748.1
mRNA	BC018569.2	None
mRNA	BE262147.1	None
mRNA	BX438393.2	None
mRNA	CA441980.1	None
mRNA	CX786396.1	None
mRNA	D13892.1	BAA02991.1
mRNA	D25545.1	BAA05028.1
mRNA	D25546.1	BAA05029.1
mRNA	D25547.1	BAA05030.1
mRNA	DB478200.1	None
mRNA	DC339361.1	None
mRNA	DC356391.1	None
mRNA	DC421281.1	None
mRNA	M93008.1	AAA90934.1
mRNA	M93009.1	AAA90933.1
other-genetic	HQ448137.1	ADQ32618.1