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    MIDEAS mitotic deacetylase associated SANT domain protein [ Homo sapiens (human) ]

    Gene ID: 91748, updated on 3-Nov-2024

    Summary

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    Official Symbol
    MIDEASprovided by HGNC
    Official Full Name
    mitotic deacetylase associated SANT domain proteinprovided by HGNC
    Primary source
    HGNC:HGNC:19853
    See related
    Ensembl:ENSG00000156030 AllianceGenome:HGNC:19853
    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
    LSR68; ELMSAN1; C14orf43; c14_5541; C14orf117
    Summary
    Predicted to enable transcription corepressor activity. Predicted to be involved in negative regulation of DNA-templated transcription and regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 10.0), ovary (RPKM 7.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MIDEAS in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (73715122..73790285, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (67922658..67997994, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (74181825..74253911, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene dynein axonemal light chain 1 Neighboring gene Sharpr-MPRA regulatory region 2817 Neighboring gene RNA, U6 small nuclear 240, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36567 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36575 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36590 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5913 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5914 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8708 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:74185518-74186128 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:74190512-74191711 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5915 Neighboring gene PNMA family member 1 Neighboring gene uncharacterized LOC124903345 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:74205959-74206474 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:74206989-74207504 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:74207505-74208018 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36600 Neighboring gene Sharpr-MPRA regulatory region 4460 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:74213165-74213679 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:74213680-74214193 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8711 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8710 Neighboring gene Sharpr-MPRA regulatory region 1827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8713 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5916 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5917 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:74228329-74228851 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:74228852-74229373 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8716 Neighboring gene microRNA 4505 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8717 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:74241609-74242167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5919 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5920 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5921 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8718 Neighboring gene MIDEAS antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:74262355-74263554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8719 Neighboring gene small nucleolar RNA U13 Neighboring gene long intergenic non-protein coding RNA 2274

    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. ELM2-SANT Domain-Containing Scaffolding Protein 1 Regulates Differentiation and Maturation of Cardiomyocytes Derived From Human-Induced Pluripotent Stem Cells. Lu YA, et al. J Am Heart Assoc, 2024 Jul 2. PMID 38904247, Free PMC Article
    2. Structural and functional characterization of a cell cycle associated HDAC1/2 complex reveals the structural basis for complex assembly and nucleosome targeting. Itoh T, et al. Nucleic Acids Res, 2015 Feb 27. PMID 25653165, Free PMC Article
    3. The MiDAC histone deacetylase complex is essential for embryonic development and has a unique multivalent structure. Turnbull RE, et al. Nat Commun, 2020 Jun 26. PMID 32591534, Free PMC Article
    4. Chemoproteomics profiling of HDAC inhibitors reveals selective targeting of HDAC complexes. Bantscheff M, et al. Nat Biotechnol, 2011 Mar. PMID 21258344
    5. Complementary quantitative proteomics reveals that transcription factor AP-4 mediates E-box-dependent complex formation for transcriptional repression of HDM2. Ku WC, et al. Mol Cell Proteomics, 2009 Sep. PMID 19505873, Free PMC Article

    See all (59) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ELM2-SANT Domain-Containing Scaffolding Protein 1 Regulates Differentiation and Maturation of Cardiomyocytes Derived From Human-Induced Pluripotent Stem Cells.
      Title: ELM2-SANT Domain-Containing Scaffolding Protein 1 Regulates Differentiation and Maturation of Cardiomyocytes Derived From Human-Induced Pluripotent Stem Cells.
    2. C14ORF43 (MIDEAS) is part of a mitotic deacetylase complex (MIDAC) formed in cell division with HDAC1/HDAC2 and DNTTIP1.
      Title: Chemoproteomics profiling of HDAC inhibitors reveals selective targeting of HDAC complexes.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ00335, FLJ98645

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transcription corepressor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of histone deacetylase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    part_of transcription regulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    mitotic deacetylase-associated SANT domain protein
    Names
    ELM2 and Myb/SANT domain containing 1
    ELM2 and Myb/SANT-like domain containing 1
    ELM2 and SANT domain-containing protein 1

    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_001043318.3 → NP_001036783.1  mitotic deacetylase-associated SANT domain protein isoform 1

      See identical proteins and their annotated locations for NP_001036783.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 both encode the same isoform (1).
      Source sequence(s)
      AC006146, AK127785, BC006511, BC009202, BC015668, DN999792
      Consensus CDS
      CCDS9819.1
      UniProtKB/Swiss-Prot
      Q6PJG2, Q6PK13, Q6PK59, Q6ZS23
      UniProtKB/TrEMBL
      A0PJD3
      Related
      ENSP00000377634.2, ENST00000394071.6
      Conserved Domains (3) summary
      smart00717
      Location:837 → 876
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      pfam01448
      Location:723 → 778
      ELM2; ELM2 domain
      cl21498
      Location:832 → 876
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...

    2. NM_001367710.1 → NP_001354639.1  mitotic deacetylase-associated SANT domain protein isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) encodes the longer isoform (2). Variants 3 and 4 both encode the same isoform (2).
      Source sequence(s)
      AC006146
      Consensus CDS
      CCDS91901.1
      UniProtKB/TrEMBL
      A0A1C7CYX1, A0PJD3
      Related
      ENSP00000407767.2, ENST00000423556.7
      Conserved Domains (2) summary
      pfam01448
      Location:723 → 778
      ELM2; ELM2 domain
      cl21498
      Location:832 → 876
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...

    3. NM_001394972.1 → NP_001381901.1  mitotic deacetylase-associated SANT domain protein isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4), as well as variant 3, encodes the longer isoform (2).
      Source sequence(s)
      AC005520, AC006146
      Consensus CDS
      CCDS91901.1
      UniProtKB/TrEMBL
      A0A1C7CYX1, A0PJD3
      Conserved Domains (2) summary
      pfam01448
      Location:723 → 778
      ELM2; ELM2 domain
      cl21498
      Location:832 → 876
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...

    4. NM_194278.4 → NP_919254.2  mitotic deacetylase-associated SANT domain protein isoform 1

      See identical proteins and their annotated locations for NP_919254.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 both encode the same isoform (1).
      Source sequence(s)
      AC006146
      Consensus CDS
      CCDS9819.1
      UniProtKB/Swiss-Prot
      Q6PJG2, Q6PK13, Q6PK59, Q6ZS23
      UniProtKB/TrEMBL
      A0PJD3
      Related
      ENSP00000286523.5, ENST00000286523.9
      Conserved Domains (3) summary
      smart00717
      Location:837 → 876
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      pfam01448
      Location:723 → 778
      ELM2; ELM2 domain
      cl21498
      Location:832 → 876
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      73715122..73790285 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005268206.1 → XP_005268263.1  mitotic deacetylase-associated SANT domain protein isoform X1

      See identical proteins and their annotated locations for XP_005268263.1

      UniProtKB/TrEMBL
      A0A1C7CYX1, A0PJD3
      Conserved Domains (2) summary
      pfam01448
      Location:723 → 778
      ELM2; ELM2 domain
      cl21498
      Location:832 → 876
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...

    2. XM_047431913.1 → XP_047287869.1  mitotic deacetylase-associated SANT domain protein isoform X1

      UniProtKB/TrEMBL
      A0A1C7CYX1

    3. XM_047431914.1 → XP_047287870.1  mitotic deacetylase-associated SANT domain protein isoform X1

      UniProtKB/TrEMBL
      A0A1C7CYX1

    4. XM_047431915.1 → XP_047287871.1  mitotic deacetylase-associated SANT domain protein isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      67922658..67997994 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376970.1 → XP_054232945.1  mitotic deacetylase-associated SANT domain protein isoform X1

      UniProtKB/TrEMBL
      A0A1C7CYX1

    2. XM_054376967.1 → XP_054232942.1  mitotic deacetylase-associated SANT domain protein isoform X1

      UniProtKB/TrEMBL
      A0A1C7CYX1

    3. XM_054376968.1 → XP_054232943.1  mitotic deacetylase-associated SANT domain protein isoform X1

      UniProtKB/TrEMBL
      A0A1C7CYX1

    4. XM_054376969.1 → XP_054232944.1  mitotic deacetylase-associated SANT domain protein isoform X1

      UniProtKB/TrEMBL
      A0A1C7CYX1

    5. XM_054376971.1 → XP_054232946.1  mitotic deacetylase-associated SANT domain protein isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PJG2.2 GenPept UniProtKB/Swiss-Prot:Q6PJG2

    Gene LinkOut

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

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