Human Gene HS1BP3 (ENST00000304031.8) from GENCODE V44
  Description: Homo sapiens HCLS1 binding protein 3 (HS1BP3), mRNA. (from RefSeq NM_022460)
RefSeq Summary (NM_022460): 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].
Gencode Transcript: ENST00000304031.8
Gencode Gene: ENSG00000118960.13
Transcript (Including UTRs)
   Position: hg38 chr2:20,617,818-20,651,098 Size: 33,281 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg38 chr2:20,618,987-20,651,063 Size: 32,077 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:20,617,818-20,651,098)mRNA (may differ from genome)Protein (392 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: H1BP3_HUMAN
DESCRIPTION: RecName: Full=HCLS1-binding protein 3; AltName: Full=HS1-binding protein 3; Short=HSP1BP-3;
FUNCTION: May be a modulator of IL-2 signaling (By similarity).
SUBUNIT: Binds HCLS1. Interacts with the SH3 domain of HCLS1 in vitro (By similarity).
SIMILARITY: Contains 1 PX (phox homology) domain.

-  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: HS1BP3
Diseases sorted by gene-association score: bell's palsy (24), essential tremor (11)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.51 RPKM in Esophagus - Muscularis
Total median expression: 190.24 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 -8.8035-0.251 Picture PostScript Text
3' UTR -529.101169-0.453 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
IPR001683 - Phox

Pfam Domains:
PF00787 - PX domain

ModBase Predicted Comparative 3D Structure on Q53T59
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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
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0035091 phosphatidylinositol binding

Biological Process:
GO:0042981 regulation of apoptotic process

Cellular Component:
GO:0005739 mitochondrion
GO:0005783 endoplasmic reticulum


-  Descriptions from all associated GenBank mRNAs
  LF209468 - JP 2014500723-A/16971: Polycomb-Associated Non-Coding RNAs.
MA445045 - JP 2018138019-A/16971: Polycomb-Associated Non-Coding RNAs.
BC050636 - Homo sapiens HCLS1 binding protein 3, mRNA (cDNA clone MGC:60121 IMAGE:5193161), complete cds.
AK024311 - Homo sapiens cDNA FLJ14249 fis, clone OVARC1001200, weakly similar to Mus musculus mRNA for HS1 binding protein 3.
JD537540 - Sequence 518564 from Patent EP1572962.
JD163543 - Sequence 144567 from Patent EP1572962.
JD403709 - Sequence 384733 from Patent EP1572962.
JD147729 - Sequence 128753 from Patent EP1572962.
JD475714 - Sequence 456738 from Patent EP1572962.
JD076871 - Sequence 57895 from Patent EP1572962.
JD387631 - Sequence 368655 from Patent EP1572962.
JD349209 - Sequence 330233 from Patent EP1572962.
JD257480 - Sequence 238504 from Patent EP1572962.
JD556817 - Sequence 537841 from Patent EP1572962.
JD387906 - Sequence 368930 from Patent EP1572962.
JD343051 - Sequence 324075 from Patent EP1572962.
JD421155 - Sequence 402179 from Patent EP1572962.
JD453506 - Sequence 434530 from Patent EP1572962.
JD108695 - Sequence 89719 from Patent EP1572962.
JD220081 - Sequence 201105 from Patent EP1572962.
JD508455 - Sequence 489479 from Patent EP1572962.
JD126396 - Sequence 107420 from Patent EP1572962.
JD390298 - Sequence 371322 from Patent EP1572962.
JD554827 - Sequence 535851 from Patent EP1572962.
JD261046 - Sequence 242070 from Patent EP1572962.
JD398551 - Sequence 379575 from Patent EP1572962.
JD519436 - Sequence 500460 from Patent EP1572962.
JD037508 - Sequence 18532 from Patent EP1572962.
JD190690 - Sequence 171714 from Patent EP1572962.
JD456949 - Sequence 437973 from Patent EP1572962.
JD438596 - Sequence 419620 from Patent EP1572962.
JD554819 - Sequence 535843 from Patent EP1572962.
JD334621 - Sequence 315645 from Patent EP1572962.
JD120308 - Sequence 101332 from Patent EP1572962.
JD474253 - Sequence 455277 from Patent EP1572962.
JD354738 - Sequence 335762 from Patent EP1572962.
AK314383 - Homo sapiens cDNA, FLJ95156, Homo sapiens HS1-binding protein 3, transcript variant1, mRNA.
AB527583 - Synthetic construct DNA, clone: pF1KB6548, Homo sapiens HS1BP3 gene for HCLS1 binding protein 3, without stop codon, in Flexi system.
AK123411 - Homo sapiens cDNA FLJ41417 fis, clone BRHIP2001927, moderately similar to Mus musculus mRNA for HS1 binding protein 3.
BC057389 - Homo sapiens HCLS1 binding protein 3, mRNA (cDNA clone IMAGE:5574764), with apparent retained intron.
BC027947 - Homo sapiens HCLS1 binding protein 3, mRNA (cDNA clone IMAGE:5207261), with apparent retained intron.
CU691206 - Synthetic construct Homo sapiens gateway clone IMAGE:100021325 5' read HS1BP3 mRNA.
CU693338 - Synthetic construct Homo sapiens gateway clone IMAGE:100018028 5' read HS1BP3 mRNA.
KJ903072 - Synthetic construct Homo sapiens clone ccsbBroadEn_12466 HS1BP3 gene, encodes complete protein.
KJ903073 - Synthetic construct Homo sapiens clone ccsbBroadEn_12467 HS1BP3 gene, encodes complete protein.
LF328772 - JP 2014500723-A/136275: Polycomb-Associated Non-Coding RNAs.
MA564349 - JP 2018138019-A/136275: Polycomb-Associated Non-Coding RNAs.
BC038847 - Homo sapiens HCLS1 binding protein 3, mRNA (cDNA clone IMAGE:6056200), with apparent retained intron.

-  Other Names for This Gene
  Alternate Gene Symbols: B2RAW2, D6W529, ENST00000304031.1, ENST00000304031.2, ENST00000304031.3, ENST00000304031.4, ENST00000304031.5, ENST00000304031.6, ENST00000304031.7, H1BP3_HUMAN, NM_022460, Q53T59, Q86VC2, Q8N367, uc002rdw.1, uc002rdw.2, uc002rdw.3
UCSC ID: ENST00000304031.8
RefSeq Accession: NM_022460
Protein: Q53T59 (aka H1BP3_HUMAN)
CCDS: CCDS1700.1

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