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    GCOM1 GCOM1, MYZAP-POLR2M combined locus [ Homo sapiens (human) ]

    Gene ID: 145781, updated on 5-Mar-2024

    Summary

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    Official Symbol
    GCOM1provided by HGNC
    Official Full Name
    GCOM1, MYZAP-POLR2M combined locusprovided by HGNC
    Primary source
    HGNC:HGNC:26424
    See related
    Ensembl:ENSG00000137878 AllianceGenome:HGNC:26424
    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
    Also known as
    gcom; Gcom2; MYZAP; GRINL1A; MYZAP-POLR2M
    Summary
    This locus represents naturally occurring readthrough transcription between the neighboring MYZAP (myocardial zonula adherens protein) and POLR2M (polymerase (RNA) II (DNA directed) polypeptide M) genes on chromosome 15. Alternative splicing results in multiple readthrough transcript variants. Readthrough variants may encode proteins that share sequence identity with the upstream gene product or with both the upstream and downstream gene products. Some readthrough transcript variants are also expected to be candidates for nonsense-mediated decay (NMD). [provided by RefSeq, Oct 2013]
    Expression
    Broad expression in heart (RPKM 68.6), fat (RPKM 23.0) and 23 other tissues See more
    Orthologs
    all
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    Genomic context

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    See GCOM1 in Genome Data Viewer
    Location:
    15q21.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (57591904..57717557)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (55394738..55519990)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (57884102..58009755)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene cingulin like 1 Neighboring gene 2-iminobutanoate/2-iminopropanoate deaminase-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:57788782-57789624 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:57819488-57820071 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9463 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:57838138-57838766 Neighboring gene Sharpr-MPRA regulatory region 1731 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:57846311-57846886 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6473 Neighboring gene ribosomal protein S13 pseudogene 7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:57896294-57896868 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6474 Neighboring gene myocardial zonula adherens protein Neighboring gene uncharacterized LOC124903589 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9464 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6475 Neighboring gene uncharacterized LOC105370834 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:58043407-58044159 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:58044582-58045178 Neighboring gene RNA polymerase II subunit M Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6476 Neighboring gene Sharpr-MPRA regulatory region 1312 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9465 Neighboring gene calponin 2 pseudogene Neighboring gene aldehyde dehydrogenase 1 family member A2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. The human GCOM1 complex gene interacts with the NMDA receptor and internexin-alpha. Roginski RS, et al. Gene, 2018 Mar 30. PMID 29339073, Free PMC Article
    2. GRINL1A colocalizes with N-methyl D-aspartate receptor NR1 subunit and reduces N-methyl D-aspartate toxicity. Roginski RS, et al. Neuroreport, 2008 Nov 19. PMID 18849881
    3. Assignment of an ionotropic glutamate receptor-like gene (GRINL1A) to human chromosome 15q22.1 by in situ hybridization. Roginski RS, et al. Cytogenet Cell Genet, 2001. PMID 11474202
    4. The human GRINL1A gene defines a complex transcription unit, an unusual form of gene organization in eukaryotes. Roginski RS, et al. Genomics, 2004 Aug. PMID 15233991
    5. Myozap, a novel intercalated disc protein, activates serum response factor-dependent signaling and is required to maintain cardiac function in vivo. Seeger TS, et al. Circ Res, 2010 Mar 19. PMID 20093627, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Yeast two-hybrid (Y2H) screens indicate 27 novel GRINL1A complex locus 1 (GCOM1) interacting genes, many of which are synaptic proteins and/or play roles in neurologic diseases.
      Title: The human GCOM1 complex gene interacts with the NMDA receptor and internexin-alpha.
    2. Reveal myozap as a previously unrecognized component of a Rho-dependent signaling pathway that links the intercalated disc to cardiac gene regulation.
      Title: Myozap, a novel intercalated disc protein, activates serum response factor-dependent signaling and is required to maintain cardiac function in vivo.
    3. genetic and transcriptional organization of gene
      Title: The human GRINL1A gene defines a complex transcription unit, an unusual form of gene organization in eukaryotes.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough GCOM1

    Included genes: POLR2M, MYZAP

    Homology

    Clone Names

    • FLJ30973, MGC126694, MGC138353, DKFZp779L2448

    General protein information

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    Preferred Names
    GRINL1A combined protein
    Names
    DNA-directed RNA polymerase II subunit GRINL1A
    DNA-directed RNA polymerase II subunit M
    GRINL1A combined protein Gcom12
    GRINL1A complex locus 1
    Glutamate receptor-like protein 1A
    MYZAP-POLR2M readthrough
    NMDAR1 subunit-interacting protein
    glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A combined protein
    myocardial zonula adherens protein

    NCBI Reference Sequences (RefSeq)

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    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_001018090.6 → NP_001018100.1  GRINL1A combined protein isoform 1

      See identical proteins and their annotated locations for NP_001018100.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1, also known as Gcom1) encodes isoform 1.
      Source sequence(s)
      AC025271, AC090651, AY207007, BC101645
      UniProtKB/Swiss-Prot
      P0CAP1
      Related
      ENSP00000369943.2, ENST00000380569.6
      Conserved Domains (1) summary
      cl00459
      Location:267 → 358
      MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily

    2. NM_001018091.6 → NP_001018101.1  GRINL1A combined protein isoform 2

      See identical proteins and their annotated locations for NP_001018101.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2, also known as Gcom2) lacks an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC025271, AC090651, AY208913, BC101645
      UniProtKB/Swiss-Prot
      P0CAP1
      Related
      ENSP00000369942.3, ENST00000380568.7
      Conserved Domains (1) summary
      cl00459
      Location:267 → 358
      MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily

    3. NM_001285900.3 → NP_001272829.1  GRINL1A combined protein isoform 3

      See identical proteins and their annotated locations for NP_001272829.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (14, also known as Gcom15B) contains an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (3) is longer than isoform 1.
      Source sequence(s)
      AC025271, AC090651, JF419331, KF456061
      UniProtKB/TrEMBL
      H8Y6P7
      Related
      ENSP00000465231.1, ENST00000587652.5
      Conserved Domains (2) summary
      pfam15328
      Location:436 → 638
      GCOM2; Putative GRINL1B complex locus protein 2
      cl00459
      Location:267 → 358
      MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily

    RNA

    1. NR_104367.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10, also known as Gcom10) lacks an internal exon and contains three alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5' most expected translation start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC025271, AC090651, AY331564

    2. NR_104368.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3, also known as Gcom3) lacks an internal exon and contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5' most expected translation start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC025271, AC090651, AY333779

    3. NR_104369.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4, also known as Gcom4) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5' most expected translation start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC025271, AC090651, AY334560

    4. NR_104370.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5, also known as Gcom5) lacks two alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5' most expected translation start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC025271, AC090651, AY334561

    5. NR_104371.3 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9, also known as Gcom9) lacks an internal exon and contains three alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5' most expected translation start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC025271, AC090651, AY353058, KF456061

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      57591904..57717557
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      55394738..55519990
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001018095.1: Suppressed sequence

      Description
      NM_001018095.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    2. NM_001018096.1: Suppressed sequence

      Description
      NM_001018096.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    3. NM_001018099.1: Suppressed sequence

      Description
      NM_001018099.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version

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