Aliases for HSPBP1 Gene

Aliases for HSPBP1 Gene

  • HSPA (Hsp70) Binding Protein 1 2 3 5
  • HSPA (Heat Shock 70kDa) Binding Protein, Cytoplasmic Cochaperone 1 2 3
  • Heat Shock Protein-Binding Protein 1 3 4
  • Hsp70 Interacting Protein 2 3
  • Hsp70-Binding Protein 1 3 4
  • FES1 2 3
  • Hsp70-Interacting Protein 1 4
  • Hsp70-Interacting Protein 2 4
  • Hsp70-Binding Protein 2 4
  • HSPBP1 5
  • HspBP1 4
  • HspBP2 4
  • HSPBP 4

External Ids for HSPBP1 Gene

Previous GeneCards Identifiers for HSPBP1 Gene

  • GC19M056638
  • GC19M056198
  • GC19M060449
  • GC19M060465
  • GC19M055773
  • GC19M052097

Summaries for HSPBP1 Gene

GeneCards Summary for HSPBP1 Gene

HSPBP1 (HSPA (Hsp70) Binding Protein 1) is a Protein Coding gene. Diseases associated with HSPBP1 include Spinocerebellar Ataxia, Autosomal Recessive 16 and Sjogren-Larsson Syndrome. Among its related pathways are Protein processing in endoplasmic reticulum and Regulation of degradation of deltaF508 CFTR in CF. Gene Ontology (GO) annotations related to this gene include binding and enzyme inhibitor activity. An important paralog of this gene is SIL1.

UniProtKB/Swiss-Prot Summary for HSPBP1 Gene

  • Inhibits HSPA1A chaperone activity by changing the conformation of the ATP-binding domain of HSPA1A and interfering with ATP binding. Interferes with ubiquitination mediated by STUB1 and inhibits chaperone-assisted degradation of immature CFTR.

Gene Wiki entry for HSPBP1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HSPBP1 Gene

Genomics for HSPBP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HSPBP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HSPBP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HSPBP1

Top Transcription factor binding sites by QIAGEN in the HSPBP1 gene promoter:
  • Arnt
  • C/EBPalpha
  • Cart-1
  • E47
  • LUN-1
  • MyoD
  • PPAR-gamma1
  • PPAR-gamma2
  • Roaz
  • Spz1

Genomic Locations for HSPBP1 Gene

Latest Assembly
chr19:55,262,223-55,280,423
(GRCh38/hg38)
Size:
18,201 bases
Orientation:
Minus strand

Previous Assembly
chr19:55,773,591-55,791,751
(GRCh37/hg19 by Entrez Gene)
Size:
18,161 bases
Orientation:
Minus strand

chr19:55,773,599-55,791,749
(GRCh37/hg19 by Ensembl)
Size:
18,151 bases
Orientation:
Minus strand

Genomic View for HSPBP1 Gene

Genes around HSPBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSPBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSPBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSPBP1 Gene

Proteins for HSPBP1 Gene

  • Protein details for HSPBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZL4-HPBP1_HUMAN
    Recommended name:
    Hsp70-binding protein 1
    Protein Accession:
    Q9NZL4
    Secondary Accessions:
    • B3KQP0
    • B4DG11
    • O95351
    • Q6ZNU5

    Protein attributes for HSPBP1 Gene

    Size:
    359 amino acids
    Molecular mass:
    39303 Da
    Quaternary structure:
    • Interacts with the ATP-binding domain of HSPA1A. Detected in a ternary complex containing STUB1, HSPA1A and HSPBP1.

    Three dimensional structures from OCA and Proteopedia for HSPBP1 Gene

    Alternative splice isoforms for HSPBP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HSPBP1 Gene

Post-translational modifications for HSPBP1 Gene

  • Ubiquitination at Lys94, Lys207, and Lys245
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HSPBP1 Gene

Domains & Families for HSPBP1 Gene

Gene Families for HSPBP1 Gene

Protein Domains for HSPBP1 Gene

Suggested Antigen Peptide Sequences for HSPBP1 Gene

GenScript: Design optimal peptide antigens:
  • Hsp70-interacting protein 2 (HPBP1_HUMAN)
genes like me logo Genes that share domains with HSPBP1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for HSPBP1 Gene

Function for HSPBP1 Gene

Molecular function for HSPBP1 Gene

UniProtKB/Swiss-Prot Function:
Inhibits HSPA1A chaperone activity by changing the conformation of the ATP-binding domain of HSPA1A and interfering with ATP binding. Interferes with ubiquitination mediated by STUB1 and inhibits chaperone-assisted degradation of immature CFTR.

Phenotypes From GWAS Catalog for HSPBP1 Gene

Gene Ontology (GO) - Molecular Function for HSPBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000774 adenyl-nucleotide exchange factor activity IBA 21873635
GO:0004857 enzyme inhibitor activity TAS 9830037
GO:0005515 protein binding IPI 16169070
GO:0031625 ubiquitin protein ligase binding IPI 16207813
genes like me logo Genes that share ontologies with HSPBP1: view
genes like me logo Genes that share phenotypes with HSPBP1: view

Animal Models for HSPBP1 Gene

MGI Knock Outs for HSPBP1:

miRNA for HSPBP1 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSPBP1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HSPBP1 Gene

Localization for HSPBP1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HSPBP1 gene
Compartment Confidence
endoplasmic reticulum 4
nucleus 3
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HSPBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA 21873635
genes like me logo Genes that share ontologies with HSPBP1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for HSPBP1 Gene

Pathways & Interactions for HSPBP1 Gene

PathCards logo

SuperPathways for HSPBP1 Gene

SuperPathway Contained pathways
1 Regulation of degradation of deltaF508 CFTR in CF
.59
.59
2 Protein processing in endoplasmic reticulum
3 Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF)
.37
genes like me logo Genes that share pathways with HSPBP1: view

Pathways by source for HSPBP1 Gene

1 KEGG pathway for HSPBP1 Gene
3 GeneGo (Thomson Reuters) pathways for HSPBP1 Gene
  • CFTR folding and maturation (norm and CF)
  • Regulation of degradation of deltaF508 CFTR in CF
  • Regulation of degradation of wt-CFTR

Gene Ontology (GO) - Biological Process for HSPBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS 9830037
GO:0031398 positive regulation of protein ubiquitination IDA 16831871
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process IDA 16831871
GO:0043086 negative regulation of catalytic activity IEA --
GO:0050790 regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with HSPBP1: view

No data available for SIGNOR curated interactions for HSPBP1 Gene

Drugs & Compounds for HSPBP1 Gene

No Compound Related Data Available

Transcripts for HSPBP1 Gene

mRNA/cDNA for HSPBP1 Gene

3 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSPBP1

Alternative Splicing Database (ASD) splice patterns (SP) for HSPBP1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9 ^ 10
SP1:
SP2: - -
SP3: - -
SP4:
SP5: -
SP6: -
SP7:

Relevant External Links for HSPBP1 Gene

GeneLoc Exon Structure for
HSPBP1

Expression for HSPBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HSPBP1 Gene

Protein differential expression in normal tissues from HIPED for HSPBP1 Gene

This gene is overexpressed in Bone (27.2) and Ovary (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HSPBP1 Gene



Protein tissue co-expression partners for HSPBP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HSPBP1

SOURCE GeneReport for Unigene cluster for HSPBP1 Gene:

Hs.53066

mRNA Expression by UniProt/SwissProt for HSPBP1 Gene:

Q9NZL4-HPBP1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for HSPBP1 Gene

  • Nervous system(4.9)
  • Lung(4.7)
  • Heart(4.4)
  • Spleen(4.3)
  • Pancreas(3)
  • Eye(2.8)
  • Skin(2.4)
  • Muscle(2.3)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with HSPBP1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for HSPBP1 Gene

Orthologs for HSPBP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HSPBP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HSPBP1 30
  • 99 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia HSPBP1 29 30
  • 89.17 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HSPBP1 29 30
  • 88.52 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hspbp1 29
  • 87.02 (n)
Mouse
(Mus musculus)
Mammalia Hspbp1 29 16 30
  • 86.46 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HSPBP1 30
  • 85 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HSPBP1 30
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HSPBP1 30
  • 46 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HSPBP1 30
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hspbp1 29
  • 63.47 (n)
Str.2669 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.16057 29
Zebrafish
(Danio rerio)
Actinopterygii hspbp1 29 30
  • 58.78 (n)
OneToOne
idibd1110 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.342 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008392 29
  • 48.54 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG10973 29
  • 38.95 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons Fes1A 29
  • 39.15 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0822700 29
  • 41.94 (n)
Species where no ortholog for HSPBP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for HSPBP1 Gene

ENSEMBL:
Gene Tree for HSPBP1 (if available)
TreeFam:
Gene Tree for HSPBP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HSPBP1: view image
Alliance of Genome Resources:
Additional Orthologs for HSPBP1

Paralogs for HSPBP1 Gene

Paralogs for HSPBP1 Gene

genes like me logo Genes that share paralogs with HSPBP1: view

Variants for HSPBP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HSPBP1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs139452756 Likely Benign: not provided 55,274,594(-) C/T
NM_012267.5(HSPBP1):c.444G>A (p.Leu148=)
SYNONYMOUS
rs145794654 Benign: not provided 55,279,477(-) G/A
NM_012267.5(HSPBP1):c.132C>T (p.Asn44=)
SYNONYMOUS
rs199998150 Likely Benign: not provided 55,265,385(-) C/A
NM_012267.5(HSPBP1):c.898G>T (p.Val300Leu)
MISSENSE
rs201868216 Likely Benign: not provided 55,277,844(-) C/T
NM_012267.5(HSPBP1):c.213G>A (p.Arg71=)
SYNONYMOUS
rs202077081 Likely Benign: not provided 55,274,444(-) G/A
NM_012267.5(HSPBP1):c.594C>T (p.Arg198=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HSPBP1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for HSPBP1 Gene

Variant ID Type Subtype PubMed ID
esv3338654 CNV duplication 20981092

Variation tolerance for HSPBP1 Gene

Residual Variation Intolerance Score: 61.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.05; 37.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HSPBP1 Gene

Human Gene Mutation Database (HGMD)
HSPBP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSPBP1
Leiden Open Variation Database (LOVD)
HSPBP1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSPBP1 Gene

Disorders for HSPBP1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for HSPBP1 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HSPBP1

genes like me logo Genes that share disorders with HSPBP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HSPBP1 Gene

Publications for HSPBP1 Gene

  1. Isolation and characterization of isoforms of HspBP1, inhibitors of Hsp70. (PMID: 10786638) Raynes DA … Guerriero V (Biochimica et biophysica acta 2000) 2 3 4 22
  2. Inhibition of Hsp70 ATPase activity and protein renaturation by a novel Hsp70-binding protein. (PMID: 9830037) Raynes DA … Guerriero V (The Journal of biological chemistry 1998) 2 3 4 22
  3. Anticancer drugs up-regulate HspBP1 and thereby antagonize the prosurvival function of Hsp70 in tumor cells. (PMID: 17855353) Tanimura S … Kohno M (The Journal of biological chemistry 2007) 3 22
  4. Expression of the cochaperone HspBP1 is not coordinately regulated with Hsp70 expression. (PMID: 16677834) Gottwald E … Guerriero V (Cell biology international 2006) 3 22
  5. Regulation of Hsp70 function by HspBP1: structural analysis reveals an alternate mechanism for Hsp70 nucleotide exchange. (PMID: 15694338) Shomura Y … Bracher A (Molecular cell 2005) 3 4

Products for HSPBP1 Gene

Sources for HSPBP1 Gene