Format

Send to:

Choose Destination

PCMTD1 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 [ Homo sapiens (human) ]

Gene ID: 115294, updated on 24-Nov-2020

Summary

Official Symbol
PCMTD1provided by HGNC
Official Full Name
protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1provided by HGNC
Primary source
HGNC:HGNC:30483
See related
Ensembl:ENSG00000168300
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Ubiquitous expression in thyroid (RPKM 31.9), fat (RPKM 21.9) and 25 other tissues See more
Orthologs

Genomic context

See PCMTD1 in Genome Data Viewer
Location:
8q11.23
Exon count:
8
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (51817575..51899186, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (52730140..52811735, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene peroxidasin like Neighboring gene uncharacterized LOC105375833 Neighboring gene BTF3 pseudogene 1 Neighboring gene uncharacterized LOC102724330 Neighboring gene uncharacterized LOC101929341 Neighboring gene ST18 C2H2C-type zinc finger transcription factor

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10883

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-L-isoaspartate (D-aspartate) O-methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
protein methylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein-L-isoaspartate O-methyltransferase domain-containing protein 1

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)

  1. NM_001286782.1NP_001273711.1  protein-L-isoaspartate O-methyltransferase domain-containing protein 1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC090186, AC103769, BC010693
    Consensus CDS
    CCDS69480.1
    UniProtKB/Swiss-Prot
    Q96MG8
    UniProtKB/TrEMBL
    F5H1M8
    Related
    ENSP00000444026.1, ENST00000544451.2
    Conserved Domains (1) summary
    COG2518
    Location:84144
    Pcm; Protein-L-isoaspartate O-methyltransferase [Posttranslational modification, protein turnover, chaperones]
  2. NM_001286783.2NP_001273712.1  protein-L-isoaspartate O-methyltransferase domain-containing protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001273712.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (3) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC090186, AC103769, AK304332
    UniProtKB/TrEMBL
    A0A024R7U8, B7Z927
    Conserved Domains (1) summary
    cl28095
    Location:544
    PCMT; Protein-L-isoaspartate(D-aspartate) O-methyltransferase (PCMT)
  3. NM_001363193.1NP_001350122.1  protein-L-isoaspartate O-methyltransferase domain-containing protein 1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AA521309, AC090186, AK056952
    Conserved Domains (1) summary
    pfam01135
    Location:11220
    PCMT; Protein-L-isoaspartate(D-aspartate) O-methyltransferase (PCMT)
  4. NM_052937.4NP_443169.2  protein-L-isoaspartate O-methyltransferase domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_443169.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC090186, AK056952
    Consensus CDS
    CCDS6148.1
    UniProtKB/Swiss-Prot
    Q96MG8
    Related
    ENSP00000428099.1, ENST00000522514.6
    Conserved Domains (1) summary
    pfam01135
    Location:11220
    PCMT; Protein-L-isoaspartate(D-aspartate) O-methyltransferase (PCMT)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    51817575..51899186 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001745466.2 RNA Sequence

Support Center