SAP30 Sin3A associated protein 30 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SAP30provided by HGNC
Official Full Name: Sin3A associated protein 30provided by HGNC
Primary source: HGNC:HGNC:10532
See related: Ensembl:ENSG00000164105 MIM:603378; AllianceGenome:HGNC:10532
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
Summary: Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which includes SIN3, SAP18, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This complex is active in deacetylating core histone octamers, but inactive in deacetylating nucleosomal histones. A pseudogene of this gene is located on chromosome 3. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 10.9), stomach (RPKM 8.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q34.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (173370954..173377532)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (176710356..176716943)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (174292105..174298683)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Reveal the correlation between hub hypoxia/immune-related genes and immunity and diagnosis, and the effect of SAP30 on cell apoptosis, ROS and MDA production in cerebral ischemic stroke.
Title: Reveal the correlation between hub hypoxia/immune-related genes and immunity and diagnosis, and the effect of SAP30 on cell apoptosis, ROS and MDA production in cerebral ischemic stroke.
SAP30 promotes breast tumor progression by bridging the transcriptional corepressor SIN3 complex and MLL1.
Title: SAP30 promotes breast tumor progression by bridging the transcriptional corepressor SIN3 complex and MLL1.
Targeting UHRF1-SAP30-MXD4 axis for leukemia initiating cell eradication in myeloid leukemia.
Title: Targeting UHRF1-SAP30-MXD4 axis for leukemia initiating cell eradication in myeloid leukemia.
upregulation of NETO2 gene is first stipulated by the isoform 1 (NM_018092.4), and the probable mechanism of its activation is associated with the increased expression of SAP30 transcription factor.
Title: [Transcription Factor SAP30 Is Involved in the Activation of NETO2 Gene Expression in Clear Cell Renal Cell Carcinoma].
In the nucleus, SLy2 interacts with the SAP30/HDAC1 complex and regulates the activity of HDAC1.
Title: SLy2 targets the nuclear SAP30/HDAC1 complex.
findings demonstrate new functions for SAP30L and SAP30 by showing that they can associate directly with core histones as well as naked DNA
Title: DNA-binding and -bending activities of SAP30L and SAP30 are mediated by a zinc-dependent module and monophosphoinositides.
PBF binds to SAP30 and represses transcription via recruitment of the HDAC1 co-repressor complex
Title: Papillomavirus binding factor binds to SAP30 and represses transcription via recruitment of the HDAC1 co-repressor complex.
occurrence of an unusual TG 3' splice site in intron 1
Title: Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.
The interaction domains between YY1 and SAP30 were mapped to the C-terminal segment of YY1 (295-414) and the C-terminal 91 amino acid region of SAP30.
Title: Modulation of YY1 activity by SAP30.
The SAP30 gene may be involved in basal cell carcinogenesis.
Title: Loss of heterozygosity on chromosome 4q32-35 in sporadic basal cell carcinomas: evidence for the involvement of p33ING2/ING1L and SAP30 genes.

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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

SHGC-59809 (e-PCR)
- UniSTS:76305

SHGC-59778 (e-PCR)
- UniSTS:11644

A008X24 (e-PCR)
- UniSTS:31624

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coregulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription corepressor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in modulation by host of symbiont transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell migration	NAS Non-traceable Author Statement 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	IDA Inferred from Direct Assay 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 stem cell population maintenance	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of Sin3-type complex	NAS Non-traceable Author Statement more info	PubMed
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 nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: histone deacetylase complex subunit SAP30

Names: 30 kDa Sin3-associated polypeptide; Sin3 corepressor complex subunit SAP30; Sin3-associated polypeptide, 30kDa; Sin3A-associated protein, 30kDa; sin3-associated polypeptide p30; sin3-associated polypeptide, 30 kDa

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)

NM_003864.4 → NP_003855.1 histone deacetylase complex subunit SAP30

See identical proteins and their annotated locations for NP_003855.1

Status: REVIEWED

Source sequence(s)

AF055993, AW236579, BC016757

Consensus CDS

CCDS3817.1

UniProtKB/Swiss-Prot

D3DP38, O75446

Related

ENSP00000296504.3, ENST00000296504.4

Conserved Domains (2) summary

pfam13866
Location:65 → 133

zf-SAP30; SAP30 zinc-finger

pfam13867
Location:153 → 205

SAP30_Sin3_bdg; Sin3 binding region of histone deacetylase complex subunit SAP30