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    SAP30BP SAP30 binding protein [ Homo sapiens (human) ]

    Gene ID: 29115, updated on 10-Dec-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. Located in intermediate filament cytoskeleton and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 20.7), brain (RPKM 12.2) and 25 other tissues See more
    Orthologs
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (75667338..75708059)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (76560524..76601245)
    RS_2024_09 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 endoregulin 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: 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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    Related articles in PubMed

    1. 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
    2. 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
    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. SAP30BP interacts with RBM17/SPF45 to promote splicing in a subset of human short introns. Fukumura K, et al. Cell Rep, 2023 Dec 26. PMID 38065098
    5. Transcriptional regulation by HSV-1 induced HTRP via acetylation system. Chen J, et al. Virol Sin, 2010 Dec. PMID 21221920, Free PMC Article

    See all (95) 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)

    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_2024_08

    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

      UniProtKB/TrEMBL
      J3QQJ0

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

      UniProtKB/TrEMBL
      J3QQJ0

    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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