SAP30L SAP30 like [Homo sapiens (human)] - Gene

Summary

Official Symbol: SAP30Lprovided by HGNC
Official Full Name: SAP30 likeprovided by HGNC
Primary source: HGNC:HGNC:25663
See related: Ensembl:ENSG00000164576 MIM:610398; AllianceGenome:HGNC:25663
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: NS4ATP2
Summary: Enables several functions, including non-sequence-specific DNA binding activity, bending; phosphatidylinositol phosphate binding activity; and zinc ion binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in fibrillar center and nucleoplasm. Part of histone deacetylase complex. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in ovary (RPKM 11.8), endometrium (RPKM 9.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q33.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (154445997..154461053)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (154979944..154995012)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (153825557..153840613)

Chromosome 5 - NC_000005.10 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?

Results show that expression of SAP30L was negatively associated with that of SAP30L-AS1 in prostate cancer specimens. Its expression is directly repressed by SAP30L-AS1 in prostate neoplasm. Also, SAP30L overexpression attenuated the roles of SAP30L-AS1 in prostate cancer proliferation and apoptosis.
Title: Long non-coding RNA SAP30L-AS1 promotes prostate cancer growth through repressing SAP30L.
Upon oxidative stress SAP30L undergoes the formation of two specific disulfide bonds, a vicinal Cys29-Cys30 and Cys38-Cys74, with a concomitant release of the coordinated zinc ion. The oxidized protein was shown to remain folded in solution and to bind signaling phospholipids.
Title: Redox-dependent disulfide bond formation in SAP30L corepressor protein: Implications for structure and function.
Observational study of gene-disease association. (HuGE Navigator)
Title: Dengue hemorrhagic fever is associated with polymorphisms in JAK1.
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.
transcriptional repression mediated by SAP30L can be influenced by alternative mRNA splicing
Title: Alternative mRNA splicing of SAP30L regulates its transcriptional repression activity.
SAP30L, a nuclear protein, is upregulated by transforming growth factor-beta in intestinal epithelial cells
Title: TGF-beta induces the expression of SAP30L, a novel nuclear protein.

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

EBI GWAS Catalog

Description
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

G32956 (e-PCR)
- UniSTS:117533

A009X35 (e-PCR)
- UniSTS:13134

RH103551 (e-PCR)
- UniSTS:97876

WI-12608 (e-PCR)
- UniSTS:29319

STS-Z41280 (e-PCR)
- UniSTS:46734

WI-13614 (e-PCR)
- UniSTS:77478

PMC319701P1 (e-PCR)
- UniSTS:273098

PMC319701P2 (e-PCR)
- UniSTS:273099

WI-17163 (e-PCR)
- UniSTS:41683

G59515 (e-PCR)
- UniSTS:136678

Clone Names

FLJ11526, FLJ23595, FLJ36497, DKFZp667L2214

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables histone binding	IDA Inferred from Direct Assay more info	PubMed
enables non-sequence-specific DNA binding, bending	IDA Inferred from Direct Assay more info	PubMed
enables nucleosome binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3-phosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-4-phosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-5-phosphate binding	IDA Inferred from Direct Assay more info	PubMed
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 zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
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

Component	Evidence Code	Pubs
part_of Sin3-type complex	NAS Non-traceable Author Statement more info	PubMed
located_in fibrillar center	IDA Inferred from Direct Assay 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 nucleolus	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 SAP30L

Names: HCV non-structural protein 4A-transactivated protein 2; Sin3A associated protein p30-like; sin3 corepressor complex subunit SAP30L; sin3-associated protein p30-like

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_001131062.2 → NP_001124534.1 histone deacetylase complex subunit SAP30L isoform 2

See identical proteins and their annotated locations for NP_001124534.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The resulting protein (isoform 2) is shorter than isoform 1.

Source sequence(s)

AC008625, AC026688, AI436556, AK021588, AW874393

Consensus CDS

CCDS47321.1

UniProtKB/Swiss-Prot

Q9HAJ7

Related

ENSP00000390927.2, ENST00000440364.6

Conserved Domains (2) summary

pfam13866
Location:26 → 68

zf-SAP30; SAP30 zinc-finger

pfam13867
Location:73 → 125

SAP30_Sin3_bdg; Sin3 binding region of histone deacetylase complex subunit SAP30
NM_001131063.2 → NP_001124535.1 histone deacetylase complex subunit SAP30L isoform 3

See identical proteins and their annotated locations for NP_001124535.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon and uses an alternate in-frame splice site, compared to variant 1. The resulting protein (isoform 3) is shorter than isoform 1.

Source sequence(s)

AC008625, AC026688, AI199517, AK021588, AW874393

Consensus CDS

CCDS47322.1

UniProtKB/Swiss-Prot

Q9HAJ7

Related

ENSP00000416393.2, ENST00000426761.2

Conserved Domains (2) summary

pfam13866
Location:26 → 67

zf-SAP30; SAP30 zinc-finger

pfam13867
Location:68 → 120

SAP30_Sin3_bdg; Sin3 binding region of histone deacetylase complex subunit SAP30
NM_024632.6 → NP_078908.1 histone deacetylase complex subunit SAP30L isoform 1

See identical proteins and their annotated locations for NP_078908.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC008625, AC026688, AK021588, AW874393, BC009829

Consensus CDS

CCDS4326.1

UniProtKB/Swiss-Prot

E9PAU7, E9PAY2, Q9HAJ7

Related

ENSP00000297109.5, ENST00000297109.11

Conserved Domains (2) summary

pfam13866
Location:24 → 95

zf-SAP30; SAP30 zinc-finger

pfam13867
Location:114 → 166

SAP30_Sin3_bdg; Sin3 binding region of histone deacetylase complex subunit SAP30

RNA

NR_024084.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) includes an alternate exon in the coding region, compared to variant 1, which results in a frameshift and early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated decay (NMD).

Source sequence(s)

AC008625, AC026688, AI144341, AK021588, AW874393, BC009829