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HS1BP3 HCLS1 binding protein 3 [ Homo sapiens (human) ]

Gene ID: 64342, updated on 2-Nov-2024

Summary

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Official Symbol
HS1BP3provided by HGNC
Official Full Name
HCLS1 binding protein 3provided by HGNC
Primary source
HGNC:HGNC:24979
See related
Ensembl:ENSG00000118960 MIM:609359; AllianceGenome:HGNC:24979
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ETM2; HS1-BP3
Summary
The protein encoded by this gene shares similarity with mouse Hs1bp3, an Hcls1/Hs1-interacting protein that may be involved in lymphocyte activation. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in kidney (RPKM 5.9), adrenal (RPKM 5.4) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See HS1BP3 in Genome Data Viewer
Location:
2p24.1
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (20553861..20651098, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (20587197..20684403, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (20817578..20850858, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985856 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:20687149-20687946 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11210 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11208 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15392 Neighboring gene uncharacterized LOC102724948 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:20732136-20733133 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:20734131-20735128 Neighboring gene NDUFAF2 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:20741509-20742494 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:20742495-20743479 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11211 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:20760853-20761375 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:20763577-20764533 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:20771337-20771837 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:20774924-20775424 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15393 Neighboring gene VISTA enhancer hs2384 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:20780177-20780738 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:20780739-20781299 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:20784034-20784599 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:20784600-20785164 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:20785731-20786294 Neighboring gene HS1BP3 intronic transcript 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:20798625-20799569 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:20808925-20809424 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:20814716-20815668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:20816583-20817474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15396 Neighboring gene ribosomal protein S25 pseudogene 3 Neighboring gene uncharacterized LOC124907740 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15397 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:20840103-20840604 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15399 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:20850539-20851276 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15400 Neighboring gene uncharacterized LOC105373466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:20865647-20866477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11213 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11214 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11215 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15401 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:20869955-20870900 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15402 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15403 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15404 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15405 Neighboring gene growth differentiation factor 7

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. A variant in the HS1-BP3 gene is associated with familial essential tremor. Higgins JJ, et al. Neurology, 2005 Feb 8. PMID 15699368, Free PMC Article
  2. Extended study of A265G variant of HS1BP3 in essential tremor and Parkinson disease. Deng H, et al. Neurology, 2005 Aug 23. PMID 16116142
  3. DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease. Keeling BH, et al. Neurosci Lett, 2009 Sep 18. PMID 19524641, Free PMC Article
  4. Human HS1BP3 induces cell apoptosis and activates AP-1. Shi T, et al. BMB Rep, 2011 Jun. PMID 21699750
  5. HS1BP3 negatively regulates autophagy by modulation of phosphatidic acid levels. Holland P, et al. Nat Commun, 2016 Dec 22. PMID 28004827, Free PMC Article

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. HS1BP3 is localized to ATG16L1- and ATG9-positive autophagosome precursors and we show that HS1BP3 binds phosphatidic acid (PA) through its PX domain. Furthermore, we find the total PA content of cells to be significantly upregulated in the absence of HS1BP3.
    Title: HS1BP3 negatively regulates autophagy by modulation of phosphatidic acid levels.
  2. Results suggest that HS1BP3 regulates apoptosis via HS1 and stimulates AP-1-mediated transcription.
    Title: Human HS1BP3 induces cell apoptosis and activates AP-1.
  3. Results do not support a role for these DRD3 and HS1BP3 variants in PD.
    Title: DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease.
  5. HS1PB3 protein is mutated in essential tremor combined with Parkinson disease.
    Title: Extended study of A265G variant of HS1BP3 in essential tremor and Parkinson disease.
  6. The 828C-->G mutation causes a substitution of a glycine for an alanine residue in the HS1-BP3 protein. It was found in 2 unrelated patients with familial essential tremor.
    Title: A variant in the HS1-BP3 gene is associated with familial essential tremor.
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)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ14249

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phosphatidylinositol binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
HCLS1-binding protein 3
Names
HS1-binding protein 3
HSP1BP-3

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_022460.4 → NP_071905.3  HCLS1-binding protein 3

    See identical proteins and their annotated locations for NP_071905.3

    Status: REVIEWED

    Source sequence(s)
    AC012065, AK024311, BC027947, BC050636, BX354596, N62141
    Consensus CDS
    CCDS1700.1
    UniProtKB/Swiss-Prot
    B2RAW2, D6W529, Q53T59, Q86VC2, Q8N367
    Related
    ENSP00000305193.3, ENST00000304031.8
    Conserved Domains (1) summary
    cd06868
    Location:19 → 138
    PX_HS1BP3; The phosphoinositide binding Phox Homology domain of HS1BP3

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    20553861..20651098 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004698.2 → XP_016860187.1  HCLS1-binding protein 3 isoform X3

  2. XM_017004696.3 → XP_016860185.1  HCLS1-binding protein 3 isoform X1

  3. XM_017004697.3 → XP_016860186.1  HCLS1-binding protein 3 isoform X2

  4. XM_017004701.2 → XP_016860190.1  HCLS1-binding protein 3 isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    20587197..20684403 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054343369.1 → XP_054199344.1  HCLS1-binding protein 3 isoform X3

  2. XM_054343367.1 → XP_054199342.1  HCLS1-binding protein 3 isoform X1

  3. XM_054343368.1 → XP_054199343.1  HCLS1-binding protein 3 isoform X2

  4. XM_054343370.1 → XP_054199345.1  HCLS1-binding protein 3 isoform X4

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_106552.1: Suppressed sequence

    Description
    NM_106552.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q53T59.1 GenPept UniProtKB/Swiss-Prot:Q53T59

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