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SAP30BP SAP30 binding protein [ Homo sapiens (human) ]

Gene ID: 29115, updated on 7-Apr-2024

Summary

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Official Symbol
SAP30BPprovided by HGNC
Official Full Name
SAP30 binding proteinprovided by HGNC
Primary source
HGNC:HGNC:30785
See related
Ensembl:ENSG00000161526 MIM:610218; AllianceGenome:HGNC:30785
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
HTRG; HTRP; HCNGP
Summary
Involved in modulation by host of symbiont transcription; positive regulation of histone deacetylation; and response to virus. Located in intermediate filament cytoskeleton and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bone marrow (RPKM 20.7), brain (RPKM 12.2) and 25 other tissues See more
Orthologs
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Genomic context

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See SAP30BP in Genome Data Viewer
Location:
17q25.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (75667338..75708059)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (76560524..76601245)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73663418..73704139)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RecQ like helicase 5 Neighboring gene HNF1 motif-containing MPRA enhancer 181 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12771 Neighboring gene uncharacterized LOC107985013 Neighboring gene small integral membrane protein 6 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:73662359-73663558 Neighboring gene SAP30BP antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:73684215-73684716 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:73684717-73685216 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73693087-73693798 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:73695788-73696987 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:73702471-73703670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8975 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73717282-73717820 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73717821-73718359 Neighboring gene ITGB4 intron CAGE-defined low expression enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73724533-73725033 Neighboring gene integrin subunit beta 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73749848-73750621 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8978 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73754136-73754662 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73754663-73755189 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12775 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8979 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8980 Neighboring gene galactokinase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73769871-73770371 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8981 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8982 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12776 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73774948-73775552 Neighboring gene H3.3 histone B

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Association between the rs820218 Variant within the SAP30BP Gene and Rotator Cuff Rupture in an Amazonian Population. Barros RSM, et al. Genes (Basel), 2023 Jan 31. PMID 36833294, Free PMC Article
  2. SAP30BP gene is associated with the susceptibility of rotator cuff tear: a case-control study based on Han Chinese population. Tian B, et al. J Orthop Surg Res, 2020 Aug 26. PMID 32843068, Free PMC Article
  3. Genome-wide association study for rotator cuff tears identifies two significant single-nucleotide polymorphisms. Tashjian RZ, et al. J Shoulder Elbow Surg, 2016 Feb. PMID 26350878
  4. Transcriptional regulation by HSV-1 induced HTRP via acetylation system. Chen J, et al. Virol Sin, 2010 Dec. PMID 21221920, Free PMC Article
  5. HTRP--an immediate-early gene product induced by HSV1 infection in human embryo fibroblasts, is involved in cellular co-repressors. Li JF, et al. J Biochem, 2004 Aug. PMID 15496587

See all (82) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SAP30BP interacts with RBM17/SPF45 to promote splicing in a subset of human short introns.
    Title: SAP30BP interacts with RBM17/SPF45 to promote splicing in a subset of human short introns.
  2. Association between the rs820218 Variant within the SAP30BP Gene and Rotator Cuff Rupture in an Amazonian Population.
    Title: Association between the rs820218 Variant within the SAP30BP Gene and Rotator Cuff Rupture in an Amazonian Population.
  3. SAP30BP gene is associated with the susceptibility of rotator cuff tear: a case-control study based on Han Chinese population.
    Title: SAP30BP gene is associated with the susceptibility of rotator cuff tear: a case-control study based on Han Chinese population.
  4. we proposed that four newly identified peripheral blood mononuclear cells-derived genes( DHRS3, TTC38, SAP30BP and LPIN2 )could be integrated with previously reported rheumatoid arthritis (RA)-associated genes to monitor and/or diagnose RA.
    Title: New genes associated with rheumatoid arthritis identified by gene expression profiling.
  5. Two SNPs were significantly associated with rotator cuff tearing, residing in SAP30BP on chromosome 17 and SASH1 on chromosome 6.
    Title: Genome-wide association study for rotator cuff tears identifies two significant single-nucleotide polymorphisms.
  6. The results indicate that HTRP could inhibit the transcription of a viral promoter, whose interaction with SAP30 synergistically affects transcriptional inhibition of the herpes simplex virus type 1 genes, and is related to HDAC enzyme activity.
    Title: Transcriptional regulation by HSV-1 induced HTRP via acetylation system.
  7. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes.
  8. HTRP is involved in cellular co-repressors
    Title: HTRP--an immediate-early gene product induced by HSV1 infection in human embryo fibroblasts, is involved in cellular co-repressors.
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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of SAP30 binding protein (SAP30BP) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ40928, DKFZp586L2022

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
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 regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
involved_in response to virus IEP
Inferred from Expression Pattern
more info
 PubMed 
Component Evidence Code Pubs
located_in intermediate filament cytoskeleton IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
SAP30-binding protein
Names
HSV-1 binding
transcriptional regulator protein HCNGP

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_001301839.2 → NP_001288768.1  SAP30-binding protein isoform 3

    See identical proteins and their annotated locations for NP_001288768.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two consecutive alternate in-frame exons in the 5' coding region compared to variant 1. This variant encodes isoform 3, which is shorter than isoform 1.
    Source sequence(s)
    AF450482, AK095265, BC011724
    Consensus CDS
    CCDS77115.1
    UniProtKB/TrEMBL
    J3QQJ0
    Related
    ENSP00000347592.3, ENST00000355423.7
    Conserved Domains (1) summary
    pfam07818
    Location:103 → 194
    HCNGP; HCNGP-like protein

  2. NM_001301855.2 → NP_001288784.1  SAP30-binding protein isoform 1

    See identical proteins and their annotated locations for NP_001288784.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AF450482, BC011724, BM807177
    UniProtKB/TrEMBL
    J3QQJ0
    Related
    ENSP00000463758.1, ENST00000583536.5
    Conserved Domains (1) summary
    pfam07818
    Location:153 → 244
    HCNGP; HCNGP-like protein

  3. NM_013260.8 → NP_037392.1  SAP30-binding protein isoform 2

    See identical proteins and their annotated locations for NP_037392.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AF450482, BC011724
    Consensus CDS
    CCDS11726.1
    UniProtKB/Swiss-Prot
    B3KML7, Q8N1R5, Q8TDR8, Q96D27, Q9UHR5
    UniProtKB/TrEMBL
    J3QQJ0
    Related
    ENSP00000462116.1, ENST00000584667.6
    Conserved Domains (1) summary
    pfam07818
    Location:119 → 210
    HCNGP; HCNGP-like protein

RNA

  1. NR_126036.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks two alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF450482, BC011724
    Related
    ENST00000582022.5

  2. NR_126037.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks three alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF450482, AK298060, BC011724

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    75667338..75708059
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524693.4 → XP_011522995.1  SAP30-binding protein isoform X1

    See identical proteins and their annotated locations for XP_011522995.1

    UniProtKB/TrEMBL
    J3QQJ0
    Conserved Domains (1) summary
    pfam07818
    Location:119 → 210
    HCNGP; HCNGP-like protein

  2. XM_011524694.3 → XP_011522996.1  SAP30-binding protein isoform X2

    See identical proteins and their annotated locations for XP_011522996.1

    UniProtKB/TrEMBL
    J3QQJ0
    Conserved Domains (1) summary
    pfam07818
    Location:103 → 194
    HCNGP; HCNGP-like protein

  3. XM_047435870.1 → XP_047291826.1  SAP30-binding protein isoform X3

  4. XM_047435871.1 → XP_047291827.1  SAP30-binding protein isoform X4

  5. XM_047435872.1 → XP_047291828.1  SAP30-binding protein isoform X5

    Related
    ENST00000578354.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    76560524..76601245
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315879.1 → XP_054171854.1  SAP30-binding protein isoform X1

  2. XM_054315880.1 → XP_054171855.1  SAP30-binding protein isoform X2

  3. XM_054315881.1 → XP_054171856.1  SAP30-binding protein isoform X3

  4. XM_054315882.1 → XP_054171857.1  SAP30-binding protein isoform X4

  5. XM_054315883.1 → XP_054171858.1  SAP30-binding protein isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UHR5.1 GenPept UniProtKB/Swiss-Prot:Q9UHR5

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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