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    SIN3A SIN3 transcription regulator family member A [ Homo sapiens (human) ]

    Gene ID: 25942, updated on 4-Feb-2024

    Summary

    Official Symbol
    SIN3Aprovided by HGNC
    Official Full Name
    SIN3 transcription regulator family member Aprovided by HGNC
    Primary source
    HGNC:HGNC:19353
    See related
    Ensembl:ENSG00000169375 MIM:607776; AllianceGenome:HGNC:19353
    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
    WITKOS; DEL15Q24; CHR15DELq24
    Summary
    The protein encoded by this gene is a transcriptional regulatory protein. It contains paired amphipathic helix (PAH) domains, which are important for protein-protein interactions and may mediate repression by the Mad-Max complex. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 15.9), thyroid (RPKM 12.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SIN3A in Genome Data Viewer
    Location:
    15q24.2
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (75369379..75455815, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (73239476..73331180, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (75661720..75748156, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 1822 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6667 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:75660721-75661253 Neighboring gene nei like DNA glycosylase 1 Neighboring gene microRNA 631 Neighboring gene mannosidase alpha class 2C member 1 Neighboring gene ribosomal protein L13 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6668 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:75742449-75743368 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6670 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:75744915-75745446 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9853 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:75745447-75745979 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6671 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9857 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9858 Neighboring gene Sharpr-MPRA regulatory region 2587 Neighboring gene uncharacterized LOC105370902 Neighboring gene protein tyrosine phosphatase non-receptor type 9 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:75797079-75797864 Neighboring gene small nuclear ribonucleoprotein F-like

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    SIN3A-related intellectual disability syndrome due to a point mutation
    MedGen: C4310804 OMIM: 613406 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-01-13)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-01-13)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
    EBI GWAS Catalog
    GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat The SIN3/HDAC complex, composed of SIN3A, SAP30, SAP18, HDAC-1 AND -2 and RbAp46/48 except SAP30, are identified to interact with HIV-1 Tat in Jurkat cell PubMed
    integrase gag-pol HIV-1 IN and INI1/hSNF5 bind SAP18 and selectively recruit components of Sin3a-HDAC1 complex into HIV-1 virions. HIV-1 virion-associated HDAC1 is required for efficient early post-entry events PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ90319, KIAA0700, DKFZp434K2235

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription corepressor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables transcription corepressor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables transcription regulator inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA replication IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in activation of innate immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to dopamine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cerebral cortex neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in hematopoietic progenitor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heterochromatin formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell migration NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of circadian rhythm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of protein localization to nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of stem cell population maintenance NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of G2/M transition of mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of defense response to virus by host IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of stem cell population maintenance NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in protein localization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of axon extension ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of hormone levels IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to methylglyoxal IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in rhythmic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in type I interferon-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of Sin3-type complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of Sin3-type complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of histone deacetylase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of histone deacetylase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in kinetochore IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of transcription repressor complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    paired amphipathic helix protein Sin3a
    Names
    SIN3 homolog A, transcription regulator
    histone deacetylase complex subunit Sin3a
    transcriptional co-repressor Sin3A
    transcriptional corepressor Sin3a
    transcriptional regulator, SIN3A

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_052855.1 RefSeqGene

      Range
      9094..91405
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145357.2NP_001138829.1  paired amphipathic helix protein Sin3a

      See identical proteins and their annotated locations for NP_001138829.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC068338, AC105137, AF418569, AL832463, BM676304
      Consensus CDS
      CCDS10279.1
      UniProtKB/Swiss-Prot
      B2RNS5, Q8N8N4, Q8NC83, Q8WV18, Q96L98, Q96ST3, Q9UFQ1
      UniProtKB/TrEMBL
      A0A994J7C7
      Related
      ENSP00000353622.4, ENST00000360439.8
      Conserved Domains (1) summary
      COG5602
      Location:51213
      Sin3; Histone deacetylase complex, regulatory component SIN3 [Chromatin structure and dynamics]
    2. NM_001145358.2NP_001138830.1  paired amphipathic helix protein Sin3a

      See identical proteins and their annotated locations for NP_001138830.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC068338, AF418569, AK096477, BM676304
      Consensus CDS
      CCDS10279.1
      UniProtKB/Swiss-Prot
      B2RNS5, Q8N8N4, Q8NC83, Q8WV18, Q96L98, Q96ST3, Q9UFQ1
      UniProtKB/TrEMBL
      A0A994J7C7
      Related
      ENSP00000378402.3, ENST00000394947.8
      Conserved Domains (1) summary
      COG5602
      Location:51213
      Sin3; Histone deacetylase complex, regulatory component SIN3 [Chromatin structure and dynamics]
    3. NM_015477.3NP_056292.1  paired amphipathic helix protein Sin3a

      See identical proteins and their annotated locations for NP_056292.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC068338, AC105137, AF418569, BC041047, BM676304
      Consensus CDS
      CCDS10279.1
      UniProtKB/Swiss-Prot
      B2RNS5, Q8N8N4, Q8NC83, Q8WV18, Q96L98, Q96ST3, Q9UFQ1
      UniProtKB/TrEMBL
      A0A994J7C7
      Related
      ENSP00000378403.4, ENST00000394949.8
      Conserved Domains (1) summary
      COG5602
      Location:51213
      Sin3; Histone deacetylase complex, regulatory component SIN3 [Chromatin structure and dynamics]

    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
      75369379..75455815 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006720465.4XP_006720528.1  paired amphipathic helix protein Sin3a isoform X1

      See identical proteins and their annotated locations for XP_006720528.1

      UniProtKB/Swiss-Prot
      B2RNS5, Q8N8N4, Q8NC83, Q8WV18, Q96L98, Q96ST3, Q9UFQ1
      UniProtKB/TrEMBL
      A0A994J7C7
      Related
      ENSP00000455204.2, ENST00000564778.6
      Conserved Domains (1) summary
      COG5602
      Location:51213
      Sin3; Histone deacetylase complex, regulatory component SIN3 [Chromatin structure and dynamics]
    2. XM_047432362.1XP_047288318.1  paired amphipathic helix protein Sin3a isoform X1

      UniProtKB/Swiss-Prot
      B2RNS5, Q8N8N4, Q8NC83, Q8WV18, Q96L98, Q96ST3, Q9UFQ1
      UniProtKB/TrEMBL
      A0A994J7C7
    3. XM_006720466.4XP_006720529.1  paired amphipathic helix protein Sin3a isoform X1

      See identical proteins and their annotated locations for XP_006720529.1

      UniProtKB/Swiss-Prot
      B2RNS5, Q8N8N4, Q8NC83, Q8WV18, Q96L98, Q96ST3, Q9UFQ1
      UniProtKB/TrEMBL
      A0A994J7C7
      Related
      ENSP00000454296.2, ENST00000565264.2
      Conserved Domains (1) summary
      COG5602
      Location:51213
      Sin3; Histone deacetylase complex, regulatory component SIN3 [Chromatin structure and dynamics]
    4. XM_047432355.1XP_047288311.1  paired amphipathic helix protein Sin3a isoform X1

      UniProtKB/Swiss-Prot
      B2RNS5, Q8N8N4, Q8NC83, Q8WV18, Q96L98, Q96ST3, Q9UFQ1
      UniProtKB/TrEMBL
      A0A994J7C7
    5. XM_047432361.1XP_047288317.1  paired amphipathic helix protein Sin3a isoform X1

      UniProtKB/Swiss-Prot
      B2RNS5, Q8N8N4, Q8NC83, Q8WV18, Q96L98, Q96ST3, Q9UFQ1
      UniProtKB/TrEMBL
      A0A994J7C7
    6. XM_047432359.1XP_047288315.1  paired amphipathic helix protein Sin3a isoform X1

      UniProtKB/Swiss-Prot
      B2RNS5, Q8N8N4, Q8NC83, Q8WV18, Q96L98, Q96ST3, Q9UFQ1
      UniProtKB/TrEMBL
      A0A994J7C7
    7. XM_047432358.1XP_047288314.1  paired amphipathic helix protein Sin3a isoform X1

      UniProtKB/Swiss-Prot
      B2RNS5, Q8N8N4, Q8NC83, Q8WV18, Q96L98, Q96ST3, Q9UFQ1
      UniProtKB/TrEMBL
      A0A994J7C7
    8. XM_047432360.1XP_047288316.1  paired amphipathic helix protein Sin3a isoform X1

      UniProtKB/Swiss-Prot
      B2RNS5, Q8N8N4, Q8NC83, Q8WV18, Q96L98, Q96ST3, Q9UFQ1
      UniProtKB/TrEMBL
      A0A994J7C7
    9. XM_047432356.1XP_047288312.1  paired amphipathic helix protein Sin3a isoform X1

      UniProtKB/Swiss-Prot
      B2RNS5, Q8N8N4, Q8NC83, Q8WV18, Q96L98, Q96ST3, Q9UFQ1
      UniProtKB/TrEMBL
      A0A994J7C7
    10. XM_047432363.1XP_047288319.1  paired amphipathic helix protein Sin3a isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      73239476..73331180 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377688.1XP_054233663.1  paired amphipathic helix protein Sin3a isoform X1

      UniProtKB/Swiss-Prot
      B2RNS5, Q8N8N4, Q8NC83, Q8WV18, Q96L98, Q96ST3, Q9UFQ1
      UniProtKB/TrEMBL
      A0A994J7C7
    2. XM_054377696.1XP_054233671.1  paired amphipathic helix protein Sin3a isoform X1

      UniProtKB/Swiss-Prot
      B2RNS5, Q8N8N4, Q8NC83, Q8WV18, Q96L98, Q96ST3, Q9UFQ1
      UniProtKB/TrEMBL
      A0A994J7C7
    3. XM_054377689.1XP_054233664.1  paired amphipathic helix protein Sin3a isoform X1

      UniProtKB/Swiss-Prot
      B2RNS5, Q8N8N4, Q8NC83, Q8WV18, Q96L98, Q96ST3, Q9UFQ1
      UniProtKB/TrEMBL
      A0A994J7C7
    4. XM_054377690.1XP_054233665.1  paired amphipathic helix protein Sin3a isoform X1

      UniProtKB/Swiss-Prot
      B2RNS5, Q8N8N4, Q8NC83, Q8WV18, Q96L98, Q96ST3, Q9UFQ1
      UniProtKB/TrEMBL
      A0A994J7C7
    5. XM_054377695.1XP_054233670.1  paired amphipathic helix protein Sin3a isoform X1

      UniProtKB/Swiss-Prot
      B2RNS5, Q8N8N4, Q8NC83, Q8WV18, Q96L98, Q96ST3, Q9UFQ1
      UniProtKB/TrEMBL
      A0A994J7C7
    6. XM_054377693.1XP_054233668.1  paired amphipathic helix protein Sin3a isoform X1

      UniProtKB/Swiss-Prot
      B2RNS5, Q8N8N4, Q8NC83, Q8WV18, Q96L98, Q96ST3, Q9UFQ1
      UniProtKB/TrEMBL
      A0A994J7C7
    7. XM_054377692.1XP_054233667.1  paired amphipathic helix protein Sin3a isoform X1

      UniProtKB/Swiss-Prot
      B2RNS5, Q8N8N4, Q8NC83, Q8WV18, Q96L98, Q96ST3, Q9UFQ1
      UniProtKB/TrEMBL
      A0A994J7C7
    8. XM_054377694.1XP_054233669.1  paired amphipathic helix protein Sin3a isoform X1

      UniProtKB/Swiss-Prot
      B2RNS5, Q8N8N4, Q8NC83, Q8WV18, Q96L98, Q96ST3, Q9UFQ1
      UniProtKB/TrEMBL
      A0A994J7C7
    9. XM_054377691.1XP_054233666.1  paired amphipathic helix protein Sin3a isoform X1

      UniProtKB/Swiss-Prot
      B2RNS5, Q8N8N4, Q8NC83, Q8WV18, Q96L98, Q96ST3, Q9UFQ1
      UniProtKB/TrEMBL
      A0A994J7C7
    10. XM_054377697.1XP_054233672.1  paired amphipathic helix protein Sin3a isoform X2