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    SAP130 Sin3A associated protein 130 [ Homo sapiens (human) ]

    Gene ID: 79595, updated on 5-May-2024

    Summary

    Official Symbol
    SAP130provided by HGNC
    Official Full Name
    Sin3A associated protein 130provided by HGNC
    Primary source
    HGNC:HGNC:29813
    See related
    Ensembl:ENSG00000136715 MIM:609697; AllianceGenome:HGNC:29813
    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
    Summary
    SAP130 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM, Mar 2008]
    Expression
    Broad expression in testis (RPKM 33.8), bone marrow (RPKM 7.4) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SAP130 in Genome Data Viewer
    Location:
    2q14.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (127941222..128028059, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (128376486..128463363, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (128698796..128785633, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985803 Neighboring gene uncharacterized LOC107985944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:128663380-128663880 Neighboring gene archaelysin family metallopeptidase 2 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:128743539-128744039 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11942 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11943 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11944 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16509 Neighboring gene UDP-glucose glycoprotein glucosyltransferase 1 Neighboring gene SRM pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 10373 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:128944162-128945361 Neighboring gene dynein light chain Tctex-type 3 pseudogene 2

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ12761

    General protein information

    Preferred Names
    histone deacetylase complex subunit SAP130
    Names
    130 kDa Sin3-associated polypeptide
    Sin3-associated polypeptide p130
    Sin3A associated protein 130kDa
    NP_001139400.1
    NP_001317228.1
    NP_001317229.1
    NP_001317230.1
    NP_001317231.1
    NP_001317232.1
    NP_078821.2
    XP_005263824.1
    XP_005263826.1
    XP_006712811.1
    XP_006712812.1
    XP_047301774.1
    XP_047301775.1
    XP_047301776.1
    XP_047301777.1
    XP_047301778.1
    XP_047301779.1
    XP_047301780.1
    XP_047301781.1
    XP_047301782.1
    XP_054199869.1
    XP_054199870.1
    XP_054199871.1
    XP_054199872.1
    XP_054199873.1
    XP_054199874.1
    XP_054199875.1
    XP_054199876.1
    XP_054199877.1
    XP_054199878.1
    XP_054199879.1
    XP_054199880.1
    XP_054199881.1

    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.

    mRNA and Protein(s)

    1. NM_001145928.2NP_001139400.1  histone deacetylase complex subunit SAP130 isoform a

      See identical proteins and their annotated locations for NP_001139400.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC118060, AK022823, AK315185, BC143898, DB509348
      Consensus CDS
      CCDS54397.1
      UniProtKB/Swiss-Prot
      Q9H0E3
      Related
      ENSP00000350333.5, ENST00000357702.9
      Conserved Domains (3) summary
      PHA03247
      Location:45365
      PHA03247; large tegument protein UL36; Provisional
      PRK07764
      Location:276683
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      pfam16014
      Location:6611066
      SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus
    2. NM_001330299.2NP_001317228.1  histone deacetylase complex subunit SAP130 isoform c

      Status: VALIDATED

      Source sequence(s)
      AK055979, AL136833
      UniProtKB/Swiss-Prot
      Q9H0E3
      UniProtKB/TrEMBL
      Q96DP1
      Conserved Domains (2) summary
      PRK07764
      Location:250656
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      pfam16014
      Location:6341039
      SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus
    3. NM_001330300.2NP_001317229.1  histone deacetylase complex subunit SAP130 isoform d

      Status: VALIDATED

      Source sequence(s)
      AC012306, AC118060
      Conserved Domains (2) summary
      pfam16014
      Location:6341004
      SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus
      cl26464
      Location:19339
      Atrophin-1; Atrophin-1 family
    4. NM_001330301.2NP_001317230.1  histone deacetylase complex subunit SAP130 isoform e

      Status: VALIDATED

      Source sequence(s)
      AC012306, AC118060
      Consensus CDS
      CCDS86881.1
      UniProtKB/TrEMBL
      A0A2R8YDB8
      Related
      ENSP00000494423.1, ENST00000643581.2
      Conserved Domains (2) summary
      PRK07764
      Location:250657
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      pfam16014
      Location:6351040
      SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus
    5. NM_001330302.2NP_001317231.1  histone deacetylase complex subunit SAP130 isoform f

      Status: VALIDATED

      Source sequence(s)
      AC012306, AC118060
      Consensus CDS
      CCDS82510.1
      UniProtKB/TrEMBL
      H7BXF5
      Related
      ENSP00000259234.6, ENST00000259234.10
      Conserved Domains (3) summary
      pfam16014
      Location:6341039
      SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus
      cl25496
      Location:230513
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      cl26464
      Location:19339
      Atrophin-1; Atrophin-1 family
    6. NM_001330303.2NP_001317232.1  histone deacetylase complex subunit SAP130 isoform g

      Status: VALIDATED

      Source sequence(s)
      AC012306, AC118060
      Conserved Domains (2) summary
      pfam16014
      Location:6351005
      SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus
      cl26464
      Location:347851
      Atrophin-1; Atrophin-1 family
    7. NM_024545.4NP_078821.2  histone deacetylase complex subunit SAP130 isoform b

      See identical proteins and their annotated locations for NP_078821.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The resulting isoform (b) is shorter than isoform a.
      Source sequence(s)
      AC118060, AK315185, AL136833
      Consensus CDS
      CCDS2153.1
      UniProtKB/Swiss-Prot
      B7ZLM3, C9K0X9, Q4ZFV4, Q53T46, Q8WVW4, Q9H0E3, Q9H9G8
      Related
      ENSP00000259235.3, ENST00000259235.7
      Conserved Domains (2) summary
      PHA03247
      Location:373877
      PHA03247; large tegument protein UL36; Provisional
      pfam16014
      Location:6611031
      SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      127941222..128028059 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445826.1XP_047301782.1  histone deacetylase complex subunit SAP130 isoform X12

    2. XM_047445825.1XP_047301781.1  histone deacetylase complex subunit SAP130 isoform X11

    3. XM_047445821.1XP_047301777.1  histone deacetylase complex subunit SAP130 isoform X7

    4. XM_047445824.1XP_047301780.1  histone deacetylase complex subunit SAP130 isoform X11

    5. XM_047445819.1XP_047301775.1  histone deacetylase complex subunit SAP130 isoform X5

    6. XM_047445820.1XP_047301776.1  histone deacetylase complex subunit SAP130 isoform X6

      UniProtKB/TrEMBL
      H7BXF5
    7. XM_047445823.1XP_047301779.1  histone deacetylase complex subunit SAP130 isoform X10

    8. XM_005263769.4XP_005263826.1  histone deacetylase complex subunit SAP130 isoform X4

      See identical proteins and their annotated locations for XP_005263826.1

      UniProtKB/TrEMBL
      A0A2R8YDB8
      Conserved Domains (2) summary
      PRK07764
      Location:250657
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      pfam16014
      Location:6351040
      SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus
    9. XM_047445818.1XP_047301774.1  histone deacetylase complex subunit SAP130 isoform X3

    10. XM_047445822.1XP_047301778.1  histone deacetylase complex subunit SAP130 isoform X9

    11. XM_005263767.4XP_005263824.1  histone deacetylase complex subunit SAP130 isoform X1

      Conserved Domains (3) summary
      PHA03247
      Location:45422
      PHA03247; large tegument protein UL36; Provisional
      PRK07764
      Location:276682
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      pfam16014
      Location:6601065
      SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus
    12. XM_006712749.4XP_006712812.1  histone deacetylase complex subunit SAP130 isoform X8

      Conserved Domains (2) summary
      PHA03247
      Location:45365
      PHA03247; large tegument protein UL36; Provisional
      pfam16014
      Location:6601030
      SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus
    13. XM_006712748.4XP_006712811.1  histone deacetylase complex subunit SAP130 isoform X2

      Conserved Domains (3) summary
      PHA03247
      Location:45365
      PHA03247; large tegument protein UL36; Provisional
      pfam05109
      Location:256539
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam16014
      Location:6601065
      SAP130_C; Histone deacetylase complex subunit SAP130 C-terminus

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      128376486..128463363 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343906.1XP_054199881.1  histone deacetylase complex subunit SAP130 isoform X12

    2. XM_054343905.1XP_054199880.1  histone deacetylase complex subunit SAP130 isoform X11

    3. XM_054343900.1XP_054199875.1  histone deacetylase complex subunit SAP130 isoform X7

    4. XM_054343904.1XP_054199879.1  histone deacetylase complex subunit SAP130 isoform X11

    5. XM_054343898.1XP_054199873.1  histone deacetylase complex subunit SAP130 isoform X5

    6. XM_054343899.1XP_054199874.1  histone deacetylase complex subunit SAP130 isoform X6

      UniProtKB/TrEMBL
      H7BXF5
    7. XM_054343903.1XP_054199878.1  histone deacetylase complex subunit SAP130 isoform X10

    8. XM_054343897.1XP_054199872.1  histone deacetylase complex subunit SAP130 isoform X4

      UniProtKB/TrEMBL
      A0A2R8YDB8
    9. XM_054343896.1XP_054199871.1  histone deacetylase complex subunit SAP130 isoform X3

    10. XM_054343902.1XP_054199877.1  histone deacetylase complex subunit SAP130 isoform X9

    11. XM_054343894.1XP_054199869.1  histone deacetylase complex subunit SAP130 isoform X1

    12. XM_054343901.1XP_054199876.1  histone deacetylase complex subunit SAP130 isoform X8

    13. XM_054343895.1XP_054199870.1  histone deacetylase complex subunit SAP130 isoform X2