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SAP30L SAP30 like [ Homo sapiens (human) ]

Gene ID: 79685, updated on 1-Jun-2020

Summary

Official Symbol
SAP30Lprovided by HGNC
Official Full Name
SAP30 likeprovided by HGNC
Primary source
HGNC:HGNC:25663
See related
Ensembl:ENSG00000164576 MIM:610398
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
Expression
Ubiquitous expression in ovary (RPKM 11.8), endometrium (RPKM 9.2) and 25 other tissues See more
Orthologs

Genomic context

See SAP30L in Genome Data Viewer
Location:
5q33.2
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (154445969..154461053)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (153825517..153840613)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene polypeptide N-acetylgalactosaminyltransferase 10 Neighboring gene RNA, 7SL, cytoplasmic 655, pseudogene Neighboring gene SAP30L antisense RNA 1 (head to head) Neighboring gene VPS37A, ESCRT-I subunit pseudogene Neighboring gene myotubularin related protein 7 pseudogene Neighboring gene heart and neural crest derivatives expressed 1

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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11526, FLJ23595, FLJ36497, DKFZp667L2214

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
histone binding IDA
Inferred from Direct Assay
more info
PubMed 
non-sequence-specific DNA binding, bending IDA
Inferred from Direct Assay
more info
PubMed 
nucleosome binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-5-phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coregulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
histone deacetylation IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
histone deacetylase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

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)

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_001131062.2NP_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:2668
    zf-SAP30; SAP30 zinc-finger
    pfam13867
    Location:73125
    SAP30_Sin3_bdg; Sin3 binding region of histone deacetylase complex subunit SAP30
  2. NM_001131063.2NP_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:2667
    zf-SAP30; SAP30 zinc-finger
    pfam13867
    Location:68120
    SAP30_Sin3_bdg; Sin3 binding region of histone deacetylase complex subunit SAP30
  3. NM_024632.6NP_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
    Q9HAJ7
    Related
    ENSP00000297109.5, ENST00000297109.11
    Conserved Domains (2) summary
    pfam13866
    Location:2695
    zf-SAP30; SAP30 zinc-finger
    pfam13867
    Location:114166
    SAP30_Sin3_bdg; Sin3 binding region of histone deacetylase complex subunit SAP30

RNA

  1. 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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    154445969..154461053
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001742260.1 RNA Sequence

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