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    POLR2M RNA polymerase II subunit M [ Homo sapiens (human) ]

    Gene ID: 81488, updated on 2-Nov-2024

    Summary

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    Official Symbol
    POLR2Mprovided by HGNC
    Official Full Name
    RNA polymerase II subunit Mprovided by HGNC
    Primary source
    HGNC:HGNC:14862
    See related
    Ensembl:ENSG00000255529 MIM:606485; AllianceGenome:HGNC:14862
    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
    GCOM1; Gdown; Gdown1; GRINL1A
    Summary
    This gene encodes a subunit of a specific form of RNA polymerase II termed Pol II(G). The encoded protein may act as a negative regulator of transcriptional activation by the Mediator complex. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 4. Readthrough transcription between this gene and the neighboring upstream gene MYZAP (myocardial zonula adherens protein) is represented with GeneID 145781. [provided by RefSeq, Oct 2013]
    Expression
    Ubiquitous expression in endometrium (RPKM 23.6), ovary (RPKM 17.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See POLR2M in Genome Data Viewer
    Location:
    15q21.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (57706714..57717557)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (55509157..55519990)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (57998912..58009755)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes 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 myocardial zonula adherens protein Neighboring gene GCOM1, MYZAP-POLR2M combined locus Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6474 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 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 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. Regulation of mammalian transcription by Gdown1 through a novel steric crosstalk revealed by cryo-EM. Wu YM, et al. EMBO J, 2012 Aug 29. PMID 22850672, Free PMC Article
    2. Gdown1 Associates Efficiently with RNA Polymerase II after Promoter Clearance and Displaces TFIIF during Transcript Elongation. DeLaney E, et al. PLoS One, 2016. PMID 27716820, Free PMC Article
    3. Alterations in expression of glutamatergic transporters and receptors in sporadic Alzheimer's disease. Jacob CP, et al. J Alzheimers Dis, 2007 Mar. PMID 17361039
    4. Regulation of RNA polymerase II termination by phosphorylation of Gdown1. Guo J, et al. J Biol Chem, 2014 May 2. PMID 24634214, Free PMC Article
    5. Functional interactions of the RNA polymerase II-interacting proteins Gdown1 and TFIIF. Mullen Davis MA, et al. J Biol Chem, 2014 Apr 18. PMID 24596085, Free PMC Article

    See all (69) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Nuclear export restricts Gdown1 to a mitotic function.
      Title: Nuclear export restricts Gdown1 to a mitotic function.
    2. The tumor suppressor MIR139 is silenced by POLR2M to promote AML oncogenesis.
      Title: The tumor suppressor MIR139 is silenced by POLR2M to promote AML oncogenesis.
    3. The relatively slow functional loading of Gdown1 in the presence of TFIIF.
      Title: Gdown1 Associates Efficiently with RNA Polymerase II after Promoter Clearance and Displaces TFIIF during Transcript Elongation.
    4. Data indicate that phosphorylation of Gdown1 on Ser-270 reduces Its affinity for RNA polymerase II.
      Title: Regulation of RNA polymerase II termination by phosphorylation of Gdown1.
    5. Modification of TFIIF provides one pathway through which efficient Gdown1 loading can occur early in elongation, allowing downstream pausing to be regulated.
      Title: Functional interactions of the RNA polymerase II-interacting proteins Gdown1 and TFIIF.
    6. Gdown1 competes with TFIIF for binding to the RPB1 and RPB5 subunits of Pol II, thereby inhibiting an essential function of TFIIF in preinitiation complex assembly.
      Title: Transcriptional regulation by Pol II(G) involving mediator and competitive interactions of Gdown1 and TFIIF with Pol II.
    7. Gdown1 stabilizes poised polymerases while maintaining their responsiveness to P-TEFb.
      Title: Functional association of Gdown1 with RNA polymerase II poised on human genes.
    8. Data identify GRINL1A as a membrane-associated DYNLL1 binding partner and suggest that additional DYNLL1-binding partners are present near this glutamate channel homolog.
      Title: Structural basis for the interaction between dynein light chain 1 and the glutamate channel homolog GRINL1A.
    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

    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env The transcription factors and kinases c-Jun, JNK, MEK, p38 MAPK, STAT-3, JAK-1, TFII D, TFII F, eIF-4E, and RNA polymerase II are induced by HIV-1 gp120 PubMed
    Tat tat A small molecule compound C3 inhibits HIV-1 replication by suppressing HIV-1 Tat-mediated HIV-1 LTR-driven gene expression and phosphorylation of RNAPII through inhibition of Tat binding to CycT1 PubMed
    tat JQ1, a small molecule inhibitor of Brd4, directly dissociates Brd4 from HIV-1 promoter and promotes subsequent HIV-1 Tat binding to HIV-1 promoter, resulting in increased phosphorylation of RNA polymerase II and viral transcription PubMed
    tat HIV-1 Tat complexes with RNA polymerase II and cellular transcription factors as part of the HIV-1 transcription preinitiation and elongation complexes and stimulates RNA polymerase II processivity by inducing the phosphorylation of its C-terminal Domain PubMed
    Vpr vpr HIV-1 Vpr interacts with basal transcription complexes such as P-TEFb, TFIIH, TFIID (TBP) and TFIIB which activate RNA polymerase II gene transcription PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough GCOM1

    Readthrough gene: GCOM1, Included gene: MYZAP

    Homology

    Clone Names

    • DKFZp586F1918

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA polymerase II complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transcription elongation factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in maintenance of ER location IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in transcription elongation by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in I band IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of RNA polymerase II, core complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of RNA polymerase II, core complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    		  
    part_of transcription preinitiation complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein GRINL1A
    Names
    GRINL1A downstream protein Gdown4
    glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A
    polymerase (RNA) II (DNA directed) polypeptide M
    polymerase (RNA) II subunit M

    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.

    Genomic

    1. NG_029676.1 RefSeqGene

      Range
      5012..15855
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001018102.3 → NP_001018112.1  protein GRINL1A isoform 2

      See identical proteins and their annotated locations for NP_001018112.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as Gdown6) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK128618, AL050091, AY339380, BF939412
      Consensus CDS
      CCDS42045.1
      UniProtKB/Swiss-Prot
      P0CAP1, P0CAP2, Q6EEV4
      Related
      ENSP00000369930.4, ENST00000380557.4
      Conserved Domains (1) summary
      pfam15328
      Location:34 → 84
      GCOM2; Putative GRINL1B complex locus protein 2

    2. NM_015532.5 → NP_056347.1  protein GRINL1A isoform 1

      See identical proteins and their annotated locations for NP_056347.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK074955, AL050091, AY339380, BF939412
      Consensus CDS
      CCDS32252.1
      UniProtKB/Swiss-Prot
      P0CAP2, Q6EER8, Q6EES2, Q6EEV3, Q6EF00, Q6EF01, Q6EF02, Q6EF46, Q6EFN8, Q6EM48, Q6K046, Q6K050, Q6K051, Q6ZQZ3, Q8NC58, Q8NCF3, Q96DI5, Q96JB7, Q96NF5, Q9Y3V6
      UniProtKB/TrEMBL
      Q53ER8
      Related
      ENSP00000299638.3, ENST00000299638.8
      Conserved Domains (1) summary
      pfam15328
      Location:27 → 241
      GCOM2; Putative GRINL1B complex locus protein 2

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      57706714..57717557
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      55509157..55519990
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_027390.1: Suppressed sequence

      Description
      NR_027390.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0CAP2.1 GenPept UniProtKB/Swiss-Prot:P0CAP2
    Q6EEV4.1 GenPept UniProtKB/Swiss-Prot:Q6EEV4

    Gene LinkOut

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

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