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    GCOM1 GRINL1A complex locus 1 [ Homo sapiens ]

    Gene ID: 145781, updated on 13-May-2012
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    Summary

    Official Symbol
    GCOM1provided by HGNC
    Official Full Name
    GRINL1A complex locus 1provided by HGNC
    Primary source
    HGNC:26424
    See related
    Ensembl:ENSG00000137878; Ensembl:ENSG00000263155; HPRD:08091; MIM:614071; Vega:OTTHUMG00000132453
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    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; FLJ30973; MGC126694; MGC138353
    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. Alternate splicing results in two readthrough transcript variants that encode different isoforms. One of the readthrough variants encodes a fusion protein that shares sequence identity with each individual gene product. The other variant encodes a protein that shares sequence identity with the upstream gene product but its C-terminal region is distinct due to frameshifts relative to the downstream gene. [provided by RefSeq, Nov 2011]
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    Genomic context

    Location :
    15q21.3
    See GCOM1 in MapViewer
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    Bibliography

    Related articles in PubMed

    1. Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. Lettre G, et al. PLoS Genet, 2011 Feb 10. PMID 21347282.
    2. 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.
    3. 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.
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334.
    5. 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.

    See all (9) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. 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.
    2. 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
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    Phenotypes

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

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    General gene information

    Markers

    Genotypes

    Readthrough GCOM1

    Included genes: POLR2M, MYZAP

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    intracellular signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    I band ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Z disc IEA
    Inferred from Electronic Annotation
    more info
    		  
    cell junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with cortical actin cytoskeleton ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    extrinsic to internal side of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    GRINL1A combined protein
    Names
    GRINL1A combined protein
    MYZAP-POLR2M protein
    MYZAP-POLR2M readthrough
    GRINL1A combined protein Gcom12
    GRINL1A complex locus protein 1
    NMDAR1 subunit-interacting protein
    myocardial zonula adherens protein
    glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A combined protein
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    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_001018090.4 → NP_001018100.1  GRINL1A combined protein isoform 1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1), also called Gcom1, encodes the longer isoform (1).
      Source sequence(s)
      AC025271, AC090651, AY207007
      Consensus CDS
      CCDS32247.1
      UniProtKB/Swiss-Prot
      P0CAP1
      Related
      ENSP00000369943, OTTHUMP00000163286, ENST00000380569, OTTHUMT00000255613
      Conserved Domains (1) summary
      TIGR02168
      Location:105 – 354
      Blast Score: 138
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    2. NM_001018091.4 → NP_001018101.1  GRINL1A combined protein isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2), also called Gcom2, lacks an alternate segment, compared to variant 1, that causes a frameshift. The resulting protein (isoform 2) has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC025271, AC090651, AY208913
      Consensus CDS
      CCDS42043.1
      UniProtKB/Swiss-Prot
      P0CAP1
      Related
      ENSP00000369942, OTTHUMP00000163287, ENST00000380568, OTTHUMT00000255616
      Conserved Domains (1) summary
      TIGR02168
      Location:105 – 354
      Blast Score: 135
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001018092.1: Suppressed sequence

      Description
      NM_001018092.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    2. NM_001018093.1: Suppressed sequence

      Description
      NM_001018093.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    3. NM_001018094.1: Suppressed sequence

      Description
      NM_001018094.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    4. NM_001018095.1: Suppressed sequence

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

    5. NM_001018096.1: Suppressed sequence

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

    6. NM_001018097.1: Suppressed sequence

      Description
      NM_001018097.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    7. NM_001018098.1: Suppressed sequence

      Description
      NM_001018098.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    8. NM_001018099.1: Suppressed sequence

      Description
      NM_001018099.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC025271.7 (157229..191329) None
    genomic AC090651.3 (7713..99265) None
    genomic CH471082.1 EAW77522.1
      EAW77523.1
    mRNA AY207007.1 AAO39707.1
    mRNA AY208913.1 AAP41549.1
    mRNA AY331564.1 AAQ76825.1
    mRNA AY333779.1 AAQ76826.1
    mRNA AY334560.1 AAQ76827.1
    mRNA AY334561.1 AAQ76828.1
    mRNA AY334562.1 AAQ76829.1
    mRNA AY341345.1 AAQ76831.1
    mRNA AY350748.1 AAQ82541.1
    mRNA AY353056.1 AAQ76832.1
    mRNA AY353057.1 AAQ76833.1
    mRNA AY353058.1 AAQ76834.1
    mRNA AY353060.1 AAQ76836.1
    mRNA BC050322.1 None
    mRNA BU753055.1 None
    mRNA BX095570.1 None
    mRNA CN284687.1 None
    mRNA JF419331.1 AEB96260.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0CAP1.1 GenPept UniProtKB/Swiss-Prot:P0CAP1
    Q6EES4 GenPept UniProtKB/TrEMBL:Q6EES4
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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