SAP30BP SAP30 binding protein [Homo sapiens (human)] - Gene

Summary

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, Nov 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

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_000017.11 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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.

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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)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH46479 (e-PCR)
- UniSTS:25105

Cda12b04 (e-PCR)
- UniSTS:68883

RH17466 (e-PCR)
- UniSTS:9256

D17S1570 (e-PCR)
- UniSTS:151861

RH18255 (e-PCR)
- UniSTS:17514

SHGC-110960 (e-PCR)
- UniSTS:168107

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)

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
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
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

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
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