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

Gene ID: 91748, updated on 10-Dec-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, Dec 2024]
Expression
Ubiquitous expression in spleen (RPKM 10.0), ovary (RPKM 7.3) and 25 other tissues See more
Orthologs
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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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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)

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, A0PJD3

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

    UniProtKB/TrEMBL
    A0A1C7CYX1, A0PJD3

  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, A0PJD3

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

    UniProtKB/TrEMBL
    A0A1C7CYX1, A0PJD3

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

    UniProtKB/TrEMBL
    A0A1C7CYX1, A0PJD3

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

    UniProtKB/TrEMBL
    A0A1C7CYX1, A0PJD3

  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

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