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

    Gene ID: 115294, updated on 11-Apr-2024

    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 MIM:620091; AllianceGenome:HGNC:30483
    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
    Summary
    Predicted to enable protein-L-isoaspartate (D-aspartate) O-methyltransferase activity. Predicted to be involved in protein methylation. Predicted to be located in membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 31.9), fat (RPKM 21.9) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    8q11.23
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (51817575..51899186, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (52193558..52274823, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (52730135..52811746, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene peroxidasin like Neighboring gene uncharacterized LOC105375833 Neighboring gene MPRA-validated peak7013 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:52721378-52721900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:52721901-52722422 Neighboring gene BTF3 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27340 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27339 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19186 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:52837590-52838789 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27342 Neighboring gene uncharacterized LOC124901944 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27343 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:52959497-52959996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:53013330-53014276 Neighboring gene uncharacterized LOC124901945 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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      Conserved Domains (1) summary
      COG2518
      Location:544
      Pcm; Protein-L-isoaspartate O-methyltransferase [Posttranslational modification, protein turnover, chaperones]
    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:11219
      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
      F5H1M8, Q96FK9, Q96MG8
      Related
      ENSP00000428099.1, ENST00000522514.6
      Conserved Domains (1) summary
      pfam01135
      Location:11219
      PCMT; Protein-L-isoaspartate(D-aspartate) O-methyltransferase (PCMT)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047421325.1XP_047277281.1  protein-L-isoaspartate O-methyltransferase domain-containing protein 1 isoform X3

    2. XM_047421323.1XP_047277279.1  protein-L-isoaspartate O-methyltransferase domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      F5H1M8, Q96FK9, Q96MG8
    3. XM_047421324.1XP_047277280.1  protein-L-isoaspartate O-methyltransferase domain-containing protein 1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      52193558..52274823 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359714.1XP_054215689.1  protein-L-isoaspartate O-methyltransferase domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      B7Z927
    2. XM_054359712.1XP_054215687.1  protein-L-isoaspartate O-methyltransferase domain-containing protein 1 isoform X1

    3. XM_054359713.1XP_054215688.1  protein-L-isoaspartate O-methyltransferase domain-containing protein 1 isoform X2