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Aliases for HSPBAP1 Gene

Aliases for HSPBAP1 Gene

  • HSPB1 Associated Protein 1 2 3 5
  • 27 KDa Heat Shock Protein-Associated Protein 1 3 4
  • HSPB (Heat Shock 27kDa) Associated Protein 1 2 3
  • PASS1 3 4
  • Protein Associating With Small Stress Protein PASS1 3
  • Protein Associated With Small Stress Protein 1 4
  • HSPB1-Associated Protein 1 3

External Ids for HSPBAP1 Gene

Previous GeneCards Identifiers for HSPBAP1 Gene

  • GC03M119179
  • GC03M122407
  • GC03M123740
  • GC03M123779
  • GC03M123941
  • GC03M119832

Summaries for HSPBAP1 Gene

Entrez Gene Summary for HSPBAP1 Gene

  • This gene encodes a protein that binds to one of the small heat shock proteins, specifically hsp27. Hsp27 is involved with cell growth and differentiation. This encoded protein was found to be abnormally expressed in patients with intractable epilepsy, although how brain function is affected remains unknown. [provided by RefSeq, Sep 2011]

GeneCards Summary for HSPBAP1 Gene

HSPBAP1 (HSPB1 Associated Protein 1) is a Protein Coding gene. Diseases associated with HSPBAP1 include Renal Cell Carcinoma. An important paralog of this gene is HIF1AN.

UniProtKB/Swiss-Prot for HSPBAP1 Gene

  • May play a role in cellular stress response.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSPBAP1 Gene

Genomics for HSPBAP1 Gene

Regulatory Elements for HSPBAP1 Gene

Enhancers for HSPBAP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F122766 1.4 FANTOM5 Ensembl ENCODE 42.8 +26.7 26696 4.2 HDAC1 TAL1 CHAMP1 FOSL1 ZNF121 NCOR1 SCRT2 ZNF600 FOS SMARCE1 DIRC2 HSPBAP1 PARP14 PARP9 DTX3L LINC02035 CSTA KPNA1
GH03F122697 1.3 Ensembl ENCODE 21.2 +96.9 96945 1.3 HDGF ATF1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 ZNF143 HSPBAP1 SEC22A LOC102723582 PARP14 WDR5B DIRC2
GH03F122758 1 Ensembl ENCODE 22.9 +34.7 34716 3.8 TEAD4 CEBPB MAFG MNT ZIC2 ZNF7 ZNF664 ZNF316 JUND MAFF HSPBAP1 DIRC2 PARP14 LINC02035
GH03F122773 1.3 FANTOM5 Ensembl ENCODE 13.2 +21.1 21076 1.8 CTCF PKNOX1 MTA2 HLF TRIM22 TBX21 RAD51 IKZF1 NBN SPI1 PARP14 HSPBAP1 DTX3L PARP9 DIRC2 CSTA KPNA1
GH03F122689 0.9 ENCODE 18.3 +104.7 104735 2.7 PKNOX1 SIN3A RARA FOS MIXL1 CEBPB JUNB KAT8 MIER3 CEBPA HSPBAP1 DIRC2 PARP14 LINC02035
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HSPBAP1 on UCSC Golden Path with GeneCards custom track

Promoters for HSPBAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001372192 716 3801 HDGF ARNT MLX CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Location for HSPBAP1 Gene

Chromosome:
3
Start:
122,739,997 bp from pter
End:
122,795,216 bp from pter
Size:
55,220 bases
Orientation:
Minus strand

Genomic View for HSPBAP1 Gene

Genes around HSPBAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSPBAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSPBAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSPBAP1 Gene

Proteins for HSPBAP1 Gene

  • Protein details for HSPBAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96EW2-HBAP1_HUMAN
    Recommended name:
    HSPB1-associated protein 1
    Protein Accession:
    Q96EW2
    Secondary Accessions:
    • Q6P476
    • Q8N8J4
    • Q8NHH6
    • Q8WWF0

    Protein attributes for HSPBAP1 Gene

    Size:
    488 amino acids
    Molecular mass:
    55167 Da
    Quaternary structure:
    • Interacts with CRYAB and HSPB1.
    SequenceCaution:
    • Sequence=AAH17763.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for HSPBAP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HSPBAP1 Gene

Post-translational modifications for HSPBAP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HSPBAP1 Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for HSPBAP1

No data available for DME Specific Peptides for HSPBAP1 Gene

Domains & Families for HSPBAP1 Gene

Protein Domains for HSPBAP1 Gene

Suggested Antigen Peptide Sequences for HSPBAP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96EW2

UniProtKB/Swiss-Prot:

HBAP1_HUMAN :
  • Contains 1 JmjC domain.
Domain:
  • Contains 1 JmjC domain.
genes like me logo Genes that share domains with HSPBAP1: view

No data available for Gene Families for HSPBAP1 Gene

Function for HSPBAP1 Gene

Molecular function for HSPBAP1 Gene

UniProtKB/Swiss-Prot Function:
May play a role in cellular stress response.

Gene Ontology (GO) - Molecular Function for HSPBAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with HSPBAP1: view
genes like me logo Genes that share phenotypes with HSPBAP1: view

Human Phenotype Ontology for HSPBAP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for HSPBAP1 Gene

miRTarBase miRNAs that target HSPBAP1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for HSPBAP1 Gene

Localization for HSPBAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSPBAP1 Gene

Cytoplasm.

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 HSPBAP1 gene
Compartment Confidence
nucleus 2
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for HSPBAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with HSPBAP1: view

Pathways & Interactions for HSPBAP1 Gene

SuperPathways for HSPBAP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HSPBAP1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for HSPBAP1 Gene

Transcripts for HSPBAP1 Gene

Unigene Clusters for HSPBAP1 Gene

HSPB (heat shock 27kDa) associated protein 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HSPBAP1 Gene

No ASD Table

Relevant External Links for HSPBAP1 Gene

GeneLoc Exon Structure for
HSPBAP1
ECgene alternative splicing isoforms for
HSPBAP1

Expression for HSPBAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HSPBAP1 Gene

mRNA differential expression in normal tissues according to GTEx for HSPBAP1 Gene

This gene is overexpressed in Whole Blood (x5.6).

Protein differential expression in normal tissues from HIPED for HSPBAP1 Gene

This gene is overexpressed in Testis (33.1), Placenta (14.3), and Peripheral blood mononuclear cells (12.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HSPBAP1 Gene



Protein tissue co-expression partners for HSPBAP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HSPBAP1 Gene:

HSPBAP1

SOURCE GeneReport for Unigene cluster for HSPBAP1 Gene:

Hs.29169

mRNA Expression by UniProt/SwissProt for HSPBAP1 Gene:

Q96EW2-HBAP1_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with HSPBAP1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for HSPBAP1 Gene

Orthologs for HSPBAP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HSPBAP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HSPBAP1 34 35
  • 99.45 (n)
cow
(Bos Taurus)
Mammalia HSPBAP1 34 35
  • 87.14 (n)
dog
(Canis familiaris)
Mammalia HSPBAP1 34 35
  • 86.79 (n)
rat
(Rattus norvegicus)
Mammalia Hspbap1 34
  • 78.78 (n)
mouse
(Mus musculus)
Mammalia Hspbap1 34 16 35
  • 78.29 (n)
oppossum
(Monodelphis domestica)
Mammalia HSPBAP1 35
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HSPBAP1 35
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves HSPBAP1 34 35
  • 68.05 (n)
lizard
(Anolis carolinensis)
Reptilia HSPBAP1 35
  • 54 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.20828 34
zebrafish
(Danio rerio)
Actinopterygii hspbap1 34 35
  • 57.29 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG43320 35
  • 23 (a)
OneToOne
Species where no ortholog for HSPBAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HSPBAP1 Gene

ENSEMBL:
Gene Tree for HSPBAP1 (if available)
TreeFam:
Gene Tree for HSPBAP1 (if available)

Paralogs for HSPBAP1 Gene

Paralogs for HSPBAP1 Gene

Pseudogenes.org Pseudogenes for HSPBAP1 Gene

genes like me logo Genes that share paralogs with HSPBAP1: view

Variants for HSPBAP1 Gene

Sequence variations from dbSNP and Humsavar for HSPBAP1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs10238812 -- 122,781,082(-) tctgc(C/T)tggct intron-variant
rs10511414 -- 122,757,935(+) CTCAT(C/T)TGATT intron-variant
rs10657578 -- 122,759,185(+) CGTTC(-/CA/CACA/CACACA/CACACACA)CACAC intron-variant
rs10700830 -- 122,789,880(+) TTTTT(-/T/TTTT)GAGAC intron-variant
rs10715840 -- 122,760,279(+) AAAAA(-/C)ATACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HSPBAP1 Gene

Variant ID Type Subtype PubMed ID
nsv829705 CNV loss 17160897
nsv822228 CNV loss 20364138
nsv3975 CNV deletion 18451855
esv1422853 CNV deletion 17803354

Variation tolerance for HSPBAP1 Gene

Residual Variation Intolerance Score: 75.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.77; 83.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HSPBAP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSPBAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSPBAP1 Gene

Disorders for HSPBAP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HSPBAP1 Gene - From: Orphanet

Disorder Aliases PubMed IDs
renal cell carcinoma
  • renal cell carcinoma, clear cell, somatic
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

HBAP1_HUMAN
  • Note=A chromosomal aberration involving HSPBAP1 has been found in a family with renal carcinoma (PubMed:12939738). Translocation t(2;3)(q35;q21) with the putative pseudogene DIRC3 (PubMed:12939738). Produces a hybrid mRNA encoding a truncated HSPBAP1 lacking the first 36 amino acids (PubMed:12939738). {ECO:0000269 PubMed:12939738}.

Relevant External Links for HSPBAP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HSPBAP1
genes like me logo Genes that share disorders with HSPBAP1: view

No data available for Genatlas for HSPBAP1 Gene

Publications for HSPBAP1 Gene

  1. Molecular cloning and characterization of a novel human gene (HSPBAP1) from human fetal brain. (PMID: 11978969) Jiang M. … Mao Y. (Cytogenet. Cell Genet. 2001) 2 3 4 22 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. Androgen receptor-interacting protein HSPBAP1 facilitates growth of prostate cancer cells in androgen-deficient conditions. (PMID: 25359680) Saeed K. … Rantala J.K. (Int. J. Cancer 2015) 3 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64

Products for HSPBAP1 Gene

Sources for HSPBAP1 Gene

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