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

    Gene ID: 115294, updated on 10-Dec-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
    Enables ubiquitin-like ligase-substrate adaptor activity. Involved in protein ubiquitination. Part of Cul5-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Dec 2024]
    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

    See PCMTD1 in Genome Data Viewer
    Location:
    8q11.23
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (51817575..51899186, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (52193558..52274823, complement)
    RS_2024_09 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 BTF3 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:52721378-52721900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:52721901-52722422 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19186 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27339 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27340 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:52837590-52838789 Neighboring gene PCMTD1 divergent transcript 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

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (30 hits/1268 screens)

    EBI GWAS Catalog

    Description
    A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
    EBI GWAS Catalog

    Interactions

    General gene information

    Clone Names

    • FLJ10883

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    part_of Cul5-RING ubiquitin ligase complex PubMed 
    is_active_in cytoplasm  
    located_in membrane  

    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_2024_08

    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

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