Aliases for PCMT1 Gene
Aliases for PCMT1 Gene
- Protein-L-Isoaspartate (D-Aspartate) O-Methyltransferase 2 3 5
- Protein L-Isoaspartyl/D-Aspartyl Methyltransferase 3 4
- L-Isoaspartyl Protein Carboxyl Methyltransferase 3 4
- Protein-Beta-Aspartate Methyltransferase 3 4
- EC 2.1.1.77 4 56
- PIMT 3 4
- Protein-L-Isoaspartate(D-Aspartate) O-Methyltransferase 3
- EC 2.1.1 56
External Ids for PCMT1 Gene
- HGNC: 8728
- Entrez Gene: 5110
- Ensembl: ENSG00000120265
- OMIM: 176851
- UniProtKB: P22061
Previous GeneCards Identifiers for PCMT1 Gene
- GC06P149632
- GC06P149966
- GC06P150101
- GC06P150163
- GC06P150112
- GC06P150070
- GC06P147636
Summaries for PCMT1 Gene
-
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]
GeneCards Summary for PCMT1 Gene
PCMT1 (Protein-L-Isoaspartate (D-Aspartate) O-Methyltransferase) is a Protein Coding gene. Diseases associated with PCMT1 include Type 1 Diabetes Mellitus 5 and Neural Tube Defects. Among its related pathways are Metabolism of proteins and Protein repair. Gene Ontology (GO) annotations related to this gene include S-adenosylmethionine-dependent methyltransferase activity and protein-L-isoaspartate (D-aspartate) O-methyltransferase activity.
UniProtKB/Swiss-Prot for PCMT1 Gene
-
Catalyzes the methyl esterification of L-isoaspartyl and D-aspartyl residues in peptides and proteins that result from spontaneous decomposition of normal L-aspartyl and L-asparaginyl residues. It plays a role in the repair and/or degradation of damaged proteins. Acts on EIF4EBP2, microtubule-associated protein 2, calreticulin, clathrin light chains a and b, Ubiquitin carboxyl-terminal hydrolase isozyme L1, phosphatidylethanolamine-binding protein 1, stathmin, beta-synuclein and alpha-synuclein.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCMT1 Gene
Genomics for PCMT1 Gene
GeneHancer (GH) Regulatory Elements for PCMT1 Gene
Promoters and enhancers for PCMT1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around PCMT1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for PCMT1 Gene
Genomic Locations for PCMT1 Gene
- chr6:149,749,443-149,811,421
- (GRCh38/hg38)
- Size:
- 61,979 bases
- Orientation:
- Plus strand
- chr6:150,070,579-150,132,557
- (GRCh37/hg19)
Genomic View for PCMT1 Gene
Genes around PCMT1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6q25.1 by Ensembl
- 6q25.1 by Entrez Gene
- 6q25.1 by HGNC
PCMT1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PCMT1 Gene
Proteins for PCMT1 Gene
-
Protein details for PCMT1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P22061-PIMT_HUMAN
- Recommended name:
- Protein-L-isoaspartate(D-aspartate) O-methyltransferase
- Protein Accession:
- P22061
- A8K109
- J3KP72
- Q14661
- Q16556
- Q5VYC1
- Q5VYC2
- Q93061
- Q96II9
- Q99625
- Q9BQV7
- Q9BQV8
- Q9NP03
Protein attributes for PCMT1 Gene
- Size:
- 227 amino acids
- Molecular mass:
- 24636 Da
- Quaternary structure:
-
- Monomer.
- SequenceCaution:
-
- Sequence=EAW47786.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Protein Expression for PCMT1 Gene
Selected DME Specific Peptides for PCMT1 Gene
- P22061:
-
- GAKALDV
- LKPGGRL
- GSGSGIL
- TISAPHM
- GKVIGIDHIKELV
- NLRKNGIIK
- PYMDSPQSIG
- PQALIDQL
- KDDPTLLSSGRV
- KMKPLMGVIYVPLTDK
- DQLKPGGRLILPVGPAGGNQMLEQYDKL
Post-translational modifications for PCMT1 Gene
- Ubiquitination at isoforms=24, isoforms=2105, and Lys206
Other Protein References for PCMT1 Gene
Antibody Products
- Novus Biologicals Antibodies for PCMT1
-
Abcam antibodies for PCMT1
-
Cloud-Clone Corp. Antibodies for PCMT1
- Invitrogen Antibodies for PCMT1
- GeneTex PCMT1 antibody for PCMT1
-
Santa Cruz Biotechnology (SCBT) Antibodies for PCMT1
Protein Products
-
OriGene Purified Proteins for PCMT1
- Search Origene for MassSpec and Protein Over-expression Lysates for PCMT1
- Origene Custom Protein Services for PCMT1
- ProSpec Recombinant Proteins for PCMT1
-
Cloud-Clone Corp. Proteins for PCMT1
- Search GeneTex for Proteins for PCMT1
-
Abcam proteins for PCMT1
Assay Products
-
Cloud-Clone Corp. Assay Kits for PCMT1
Domains & Families for PCMT1 Gene
Gene Families for PCMT1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Plasma proteins
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for PCMT1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for PCMT1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P22061UniProtKB/Swiss-Prot:
PIMT_HUMAN :- Belongs to the methyltransferase superfamily. L-isoaspartyl/D-aspartyl protein methyltransferase family.
- Family:
-
- Belongs to the methyltransferase superfamily. L-isoaspartyl/D-aspartyl protein methyltransferase family.
Function for PCMT1 Gene
Molecular function for PCMT1 Gene
- GENATLAS Biochemistry:
- L-isoaspartyl/D-aspartyl methyltransferase,widely expressed
- UniProtKB/Swiss-Prot CatalyticActivity:
- S-adenosyl-L-methionine + protein L-isoaspartate = S-adenosyl-L-homocysteine + protein L-isoaspartate alpha-methyl ester.
- UniProtKB/Swiss-Prot Function:
- Catalyzes the methyl esterification of L-isoaspartyl and D-aspartyl residues in peptides and proteins that result from spontaneous decomposition of normal L-aspartyl and L-asparaginyl residues. It plays a role in the repair and/or degradation of damaged proteins. Acts on EIF4EBP2, microtubule-associated protein 2, calreticulin, clathrin light chains a and b, Ubiquitin carboxyl-terminal hydrolase isozyme L1, phosphatidylethanolamine-binding protein 1, stathmin, beta-synuclein and alpha-synuclein.
Enzyme Numbers (IUBMB) for PCMT1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004719 | protein-L-isoaspartate (D-aspartate) O-methyltransferase activity | TAS | 8074695 |
| GO:0005515 | protein binding | IPI | 25416956 |
| GO:0008168 | methyltransferase activity | IEA | -- |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0045296 | cadherin binding | IDA | 25468996 |
Phenotypes for PCMT1 Gene
- GenomeRNAi human phenotypes for PCMT1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PCMT1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for PCMT1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PCMT1 gene
- Search ViGene Biosciences for PCMT1
CRISPR Products
-
OriGene CRISPR knockouts for PCMT1
- genomics-online: gRNA clones - Search results for available PCMT1 gene related products
- Applied Biological Materials CRISPR for PCMT1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PCMT1
- GenScript: Design CRISPR guide RNA sequences for PCMT1
miRNA for PCMT1 Gene
- miRTarBase miRNAs that target PCMT1
-
- hsa-mir-16-5p (MIRT031439)
- hsa-mir-877-3p (MIRT037052)
- hsa-mir-106b-3p (MIRT038565)
- hsa-mir-15a-5p (MIRT098827)
- hsa-mir-15b-5p (MIRT098829)
- hsa-mir-195-5p (MIRT098830)
- hsa-mir-330-3p (MIRT098833)
- hsa-mir-508-3p (MIRT098837)
- hsa-mir-570-5p (MIRT098838)
- hsa-mir-646 (MIRT098839)
- hsa-mir-3135a (MIRT098840)
- hsa-mir-548ag (MIRT098841)
- hsa-mir-548ai (MIRT098842)
- hsa-mir-4477b (MIRT098843)
- hsa-mir-7856-5p (MIRT098846)
- hsa-mir-548ba (MIRT098847)
- hsa-mir-4445-5p (MIRT555803)
- hsa-mir-1283 (MIRT555804)
- hsa-mir-7-2-3p (MIRT555805)
- hsa-mir-7-1-3p (MIRT555806)
- hsa-mir-5688 (MIRT555807)
- hsa-mir-495-3p (MIRT555808)
- hsa-mir-219a-5p (MIRT555809)
- hsa-mir-6766-3p (MIRT555810)
- hsa-mir-4782-3p (MIRT555811)
miRNA Products
- Search ViGene Biosciences for PCMT1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for PCMT1
- Browse OriGene Inhibitory RNA Products For PCMT1
- genomics-online: shRNA clones - Search results for available PCMT1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for PCMT1 gene
Clone Products
-
OriGene ORF clones in human for PCMT1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PCMT1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for PCMT1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PCMT1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for PCMT1
- genomics-online: cdna clones - Search results for available PCMT1 gene related products
- orf clones - Search results for available PCMT1 gene related products
- Applied Biological Materials Clones for PCMT1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- Browse cDNA clones at Cloud-Clone Corp.
-
Cloud-Clone Corp. primers for PCMT1
Cell Line Products
-
Horizon Cell Lines for PCMT1
-
ViGene Biosciences adenoviral particle packaged cDNA for PCMT1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for PCMT1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PCMT1 gene
No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PCMT1 Gene
Localization for PCMT1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PCMT1 Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytosol | 5 |
| cytoskeleton | 1 |
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IBA | -- |
| GO:0005829 | cytosol | IDA,TAS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0070062 | extracellular exosome | IDA,HDA | 23376485 |
Pathways & Interactions for PCMT1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism of proteins | ||
| 2 | Protein repair |
.38
|
|
Pathways by source for PCMT1 Gene
2 Reactome pathways for PCMT1 Gene
Interacting Proteins for PCMT1 Gene
Selected Interacting proteins:
ENSP00000356348
P22061-PIMT_HUMAN
for PCMT1 Gene via
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006464 | cellular protein modification process | IEA | -- |
| GO:0006479 | protein methylation | TAS,IEA | 3355545 |
| GO:0030091 | protein repair | TAS | 8074695 |
| GO:0032259 | methylation | IEA | -- |
No data available for SIGNOR curated interactions for PCMT1 Gene
Drugs & Compounds for PCMT1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| s-adenosylhomocysteine | Experimental | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| s-adenosylmethionine |
|
29908-03-0 |
Transcripts for PCMT1 Gene
mRNA/cDNA for PCMT1 Gene
- (7) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (515) Selected AceView cDNA sequences:
- (11) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for PCMT1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for PCMT1
- genomics-online: gRNA clones - Search results for available PCMT1 gene related products
- Applied Biological Materials CRISPR for PCMT1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PCMT1
- GenScript: Design CRISPR guide RNA sequences for PCMT1
miRNA Products
- Search ViGene Biosciences for PCMT1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for PCMT1
- Browse OriGene Inhibitory RNA Products For PCMT1
- genomics-online: shRNA clones - Search results for available PCMT1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for PCMT1 gene
Clone Products
-
OriGene ORF clones in human for PCMT1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PCMT1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for PCMT1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PCMT1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for PCMT1
- genomics-online: cdna clones - Search results for available PCMT1 gene related products
- orf clones - Search results for available PCMT1 gene related products
- Applied Biological Materials Clones for PCMT1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- Browse cDNA clones at Cloud-Clone Corp.
-
Cloud-Clone Corp. primers for PCMT1
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ | 13a | · | 13b | · | 13c | ^ | 14 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | - | - | - | - | - | - | - | - |
Expression for PCMT1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PCMT1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of PCMT1 Gene:
PCMT1SOURCE GeneReport for Unigene cluster for PCMT1 Gene:
Hs.279257Evidence on tissue expression from TISSUES for PCMT1 Gene
- Nervous system(5)
- Skin(4.5)
- Blood(4.4)
- Liver(4.4)
- Muscle(4.4)
- Lung(2.3)
- Heart(2.1)
- Intestine(2.1)
Primer Products
-
OriGene qPCR primer pairs for PCMT1
-
OriGene qPCR primer pairs and template standards for PCMT1
- genomics-online: primer clones - Search results for available PCMT1 gene related products
No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PCMT1 Gene
Orthologs for PCMT1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PCMT1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | PCMT1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | PCMT1 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Pcmt1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | PCMT1 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | PCMT1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PCMT1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | PCMT1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pcmt1 33 |
|
||
| Str.12222 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.6342 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pcmt 33 34 |
|
||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.1437 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Pcmt 35 33 34 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000457 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | pcm-1 35 33 34 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | PIMT1 33 |
|
||
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.817 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os08g0557000 33 |
|
||
| Os.6061 33 |
|
||||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | pcm2 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU05078 33 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.1090 33 |
|
- Species where no ortholog for PCMT1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rat (Rattus norvegicus)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for PCMT1 Gene
No data available for Paralogs for PCMT1 Gene
Variants for PCMT1 Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for PCMT1 Gene
- PIMT_HUMAN-P22061
- The allele frequencies for the polymorphism at codon 120 differ between ethnic groups; in the Caucasian population Ile-120 is present at a frequency of 0.45, while it is found at a frequency of 0.88 and 0.81 in the Asian and the African populations respectively. Val-120 is found at a frequency of 0.55 in the Caucasians, 0.12 and 0.19 in the Asian and African populations respectively. The Ile-120 variant has higher specific activity and thermostability than the Val-120 variant. The Val-120 variant has a higher affinity for protein substrates.
| SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000015020 | -- | 149,758,096(+) | A/C | genic_upstream_transcript_variant, intron_variant | |
| rs1000080890 | -- | 149,804,680(+) | T/A | genic_downstream_transcript_variant, intron_variant | |
| rs1000097864 | -- | 149,756,742(+) | T/G | genic_upstream_transcript_variant, intron_variant | |
| rs1000118515 | -- | 149,751,423(+) | C/T | genic_upstream_transcript_variant, intron_variant | |
| rs1000191618 | -- | 149,751,682(+) | A/G | genic_upstream_transcript_variant, intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv349268 | CNV | deletion | 16902084 |
| nsv1148946 | CNV | deletion | 26484159 |
| nsv1141827 | CNV | insertion | 24896259 |
| esv2732864 | CNV | deletion | 23290073 |
| esv2732861 | CNV | deletion | 23290073 |
| esv2678537 | CNV | deletion | 23128226 |
| esv2600122 | CNV | deletion | 19546169 |
| esv2259693 | CNV | deletion | 18987734 |
| dgv1023e201 | CNV | deletion | 23290073 |
Residual Variation Intolerance Score:
72.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.10;
22.39% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PCMT1 Gene
Disorders for PCMT1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| type 1 diabetes mellitus 5 |
|
|
| neural tube defects |
|
|
Search PCMT1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PCMT1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for PCMT1 Gene
Publications for PCMT1 Gene
- Association between polymorphisms in the protein L-isoaspartate (D-aspartate) O-methyltransferase gene and premature ovarian failure. (PMID: 18582870) Pyun JA … Kwack K (Fertility and sterility 2009) 3 22 44 58
- A known functional polymorphism (Ile120Val) of the human PCMT1 gene and risk of spina bifida. (PMID: 16256389) Zhu H … Finnell RH (Molecular genetics and metabolism 2006) 3 22 44 58
- Crystal structure of human L-isoaspartyl-O-methyl-transferase with S-adenosyl homocysteine at 1.6-A resolution and modeling of an isoaspartyl-containing peptide at the active site. (PMID: 11847284) Smith CD … Chattopadhyay D (Protein science : a publication of the Protein Society 2002) 3 4 22 58
- Polymorphic forms of the protein L-isoaspartate (D-aspartate) O-methyltransferase involved in the repair of age-damaged proteins. (PMID: 10496068) DeVry CG … Clarke S (Journal of human genetics 1999) 3 4 22 58
- Assignment of the protein L-isoaspartate (D-aspartate) O-methyltransferase gene (PCMT1) to human chromosome bands 6q24-->q25 with radiation hybrid mapping. (PMID: 10343128) DeVry CG … Clarke S (Cytogenetics and cell genetics 1999) 2 3 22 58
Products for PCMT1 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for PCMT1
- Search Origene for MassSpec and Protein Over-expression Lysates for PCMT1
- Origene Custom Protein Services for PCMT1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PCMT1
- Browse OriGene Inhibitory RNA Products For PCMT1
- OriGene qPCR primer pairs and template standards for PCMT1
- OriGene qPCR primer pairs for PCMT1
- OriGene CRISPR knockouts for PCMT1
- OriGene ORF clones in human for PCMT1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For PCMT1
- GenScript: Next-day shipping of latest version cDNA ORF clones for PCMT1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for PCMT1
- GenScript Custom Assay Services for PCMT1
- GenScript Custom overexpressing Cell Line Services for PCMT1
- GenScript: Design CRISPR guide RNA sequences for PCMT1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for PCMT1
- Sino Biological Human cDNA Clone for PCMT1
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for PCMT1
- Novus Biologicals lysates and proteins for PCMT1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
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- Abcam antibodies for PCMT1
- Abcam proteins for PCMT1
- Find your target
- Browse Primary Antibodies
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- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- ProSpec Recombinant Proteins for PCMT1
- Cloud-Clone Corp. Antibodies for PCMT1
- Cloud-Clone Corp. Proteins for PCMT1
- Cloud-Clone Corp. Assay Kits for PCMT1
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Cloud-Clone Corp. primers for PCMT1
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for PCMT1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Cyagen custom Knockout/knockin (KOKI) mouse models for PCMT1
- VectorBuilder custom plasmid, inducible vectors for PCMT1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PCMT1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for PCMT1
- antibodies-online: Search results for 11 available PCMT1 Antibodies ranked by validation data
- Compare Top PCMT1 Antibodies
- antibodies-online: Search results for 11 available PCMT1 Elisa Kits ranked by validation data
- Compare Top PCMT1 Elisa Kits
- antibodies-online: Search results for 14 available PCMT1 Proteins ranked by validation data
- Compare Top PCMT1 Proteins
- GeneTex PCMT1 antibody for PCMT1
- Search GeneTex for Proteins for PCMT1
- ViGene Biosciences adenoviral particle packaged cDNA for PCMT1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for PCMT1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for PCMT1 gene
- Search ViGene Biosciences for PCMT1
- Santa Cruz Biotechnology (SCBT) Antibodies for PCMT1
- Search Santa Cruz Biotechnology (SCBT) for PCMT1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for PCMT1
- Horizon Cell Lines for PCMT1
- genomics-online: cdna clones - Search results for available PCMT1 gene related products
- orf clones - Search results for available PCMT1 gene related products
- genomics-online: gRNA clones - Search results for available PCMT1 gene related products
- genomics-online: primer clones - Search results for available PCMT1 gene related products
- genomics-online: shRNA clones - Search results for available PCMT1 gene related products
Sources for PCMT1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew