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

Gene ID: 145781, updated on 17-Jun-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
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