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

Gene ID: 79595, updated on 23-Nov-2021

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
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
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Genomic context

See SAP130 in Genome Data Viewer
Location:
2q14.3
Exon count:
22
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (127941218..128028059, complement)
105.20201022 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 LOC107985944 Neighboring gene archaelysin family metallopeptidase 2 pseudogene Neighboring gene UDP-glucose glycoprotein glucosyltransferase 1 Neighboring gene SRM pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 10373

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

Homology

Clone Names

  • FLJ12761

Gene Ontology Provided by GOA

Component Evidence Code Pubs
part_of Sin3-type complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nuclear speck IDA
Inferred from Direct Assay
more info
 

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

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_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
    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
    Q9H0E3
    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: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    127941218..128028059 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006712749.3XP_006712812.1  histone deacetylase complex subunit SAP130 isoform X4

    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
  2. XM_006712748.3XP_006712811.1  histone deacetylase complex subunit SAP130 isoform X1

    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
  3. XM_005263769.3XP_005263826.1  histone deacetylase complex subunit SAP130 isoform X3

    See identical proteins and their annotated locations for XP_005263826.1

    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
  4. XM_005263767.3XP_005263824.1  histone deacetylase complex subunit SAP130 isoform X2

    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

RNA

  1. XR_923026.3 RNA Sequence

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