Human Gene HSPBAP1 (ENST00000306103.3_7) from GENCODE V47lift37
  Description: HSPB1 associated protein 1, transcript variant 1 (from RefSeq NM_024610.6)
Gencode Transcript: ENST00000306103.3_7
Gencode Gene: ENSG00000169087.11_9
Transcript (Including UTRs)
   Position: hg19 chr3:122,458,846-122,512,678 Size: 53,833 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr3:122,459,192-122,512,527 Size: 53,336 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:122,458,846-122,512,678)mRNA (may differ from genome)Protein (488 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HBAP1_HUMAN
DESCRIPTION: RecName: Full=HSPB1-associated protein 1; AltName: Full=27 kDa heat shock protein-associated protein 1; AltName: Full=Protein associated with small stress protein 1;
FUNCTION: May play a role in cellular stress response (By similarity).
SUBUNIT: Interacts with CRYAB and HSPB1.
SUBCELLULAR LOCATION: Cytoplasm (By similarity).
TISSUE SPECIFICITY: Widely expressed.
DISEASE: Note=A chromosomal aberration involving HSPBAP1 has been found in a family with renal carcinoma. Translocation t(2;3)(q35;q21) with the putative pseudogene DIRC3. Produces an hybrid mRNA encoding a truncated HSPBAP1 lacking the first 36 amino acids.
SIMILARITY: Contains 1 JmjC domain.
SEQUENCE CAUTION: Sequence=AAH17763.1; Type=Erroneous initiation;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/HSPBAP1ID513.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HSPBAP1
Diseases sorted by gene-association score: renal cell carcinoma* (111)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.32 RPKM in Spleen
Total median expression: 127.26 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -64.50151-0.427 Picture PostScript Text
3' UTR -60.00346-0.173 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013296 - HSPB1-associated_protein_1
IPR003347 - JmjC_dom

Pfam Domains:
PF08007 - Cupin superfamily protein
PF13621 - Cupin-like domain

SCOP Domains:
51182 - RmlC-like cupins
51197 - Clavaminate synthase-like
51215 - Regulatory protein AraC
53706 - Formate dehydrogenase/DMSO reductase, domains 1-3

ModBase Predicted Comparative 3D Structure on Q96EW2
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Cellular Component:
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  KJ903192 - Synthetic construct Homo sapiens clone ccsbBroadEn_12586 HSPBAP1 gene, encodes complete protein.
KJ894708 - Synthetic construct Homo sapiens clone ccsbBroadEn_04102 HSPBAP1 gene, encodes complete protein.
KJ906316 - Synthetic construct Homo sapiens clone ccsbBroadEn_15986 HSPBAP1 gene, encodes complete protein.
CU680100 - Synthetic construct Homo sapiens gateway clone IMAGE:100019634 5' read HSPBAP1 mRNA.
BC011897 - Homo sapiens HSPB (heat shock 27kDa) associated protein 1, mRNA (cDNA clone MGC:20279 IMAGE:3949150), complete cds.
AK026276 - Homo sapiens cDNA: FLJ22623 fis, clone HSI05687.
AF400663 - Homo sapiens PASS1 mRNA, complete cds.
JD269482 - Sequence 250506 from Patent EP1572962.
BC017763 - Homo sapiens HSPB (heat shock 27kDa) associated protein 1, mRNA (cDNA clone IMAGE:4274089), complete cds.
AK289410 - Homo sapiens cDNA FLJ76988 complete cds, highly similar to Homo sapiens HSPB (heat shock 27kDa) associated protein 1 (HSPBAP1), mRNA.
DQ893066 - Synthetic construct clone IMAGE:100005696; FLH193246.01X; RZPDo839E0378D HSPB (heat shock 27kDa) associated protein 1 (HSPBAP1) gene, encodes complete protein.
DQ896319 - Synthetic construct Homo sapiens clone IMAGE:100010779; FLH193242.01L; RZPDo839E0368D HSPB (heat shock 27kDa) associated protein 1 (HSPBAP1) gene, encodes complete protein.
AB590214 - Synthetic construct DNA, clone: pFN21AE1152, Homo sapiens HSPBAP1 gene for HSPB (heat shock 27kDa) associated protein 1, without stop codon, in Flexi system.
AK096705 - Homo sapiens cDNA FLJ39386 fis, clone PLACE6000348, highly similar to Rattus norvegicus protein associating with small stress protein PASS1 (Pass1) mRNA.
BC063629 - Homo sapiens HSPB (heat shock 27kDa) associated protein 1, mRNA (cDNA clone IMAGE:3892258), complete cds.
CU687786 - Synthetic construct Homo sapiens gateway clone IMAGE:100021579 5' read HSPBAP1 mRNA.
JD195521 - Sequence 176545 from Patent EP1572962.
JD123270 - Sequence 104294 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000306103.1, ENST00000306103.2, HBAP1_HUMAN, NM_024610, PASS1, Q6P476, Q8N8J4, Q8NHH6, Q8WWF0, Q96EW2, uc317ntr.1, uc317ntr.2
UCSC ID: ENST00000306103.3_7
RefSeq Accession: NM_024610.6
Protein: Q96EW2 (aka HBAP1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.