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HSBP1L1 Gene

protein-coding   GIFtS: 39
GCID: GC18P077724

Heat Shock Factor Binding Protein 1-Like 1

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Heat Shock Factor Binding Protein 1-Like 11 2
Heat Shock Factor-Binding Protein 1-Like Protein 12

External Ids:    HGNC: 372431   Entrez Gene: 4404982   Ensembl: ENSG000002267427   UniProtKB: C9JCN93   
ORGUL members:         

Export aliases for HSBP1L1 gene to outside databases

Previous GC identifer: GC18P074346


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for HSBP1L1 Gene:
HSBP1L1 (heat shock factor binding protein 1-like 1) is a protein-coding gene. Diseases associated with HSBP1L1 include endotheliitis.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000018.10  NT_010966.15  NC_018929.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for HSBP1L1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for HSBP1L1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HSBP1L1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q23   Ensembl cytogenetic band:  18q23   HGNC cytogenetic band: 18q23

HSBP1L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HSBP1L1 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P077724:  view genomic region     (about GC identifiers)

Start:
77,724,561 bp from pter      End:
77,730,822 bp from pter
Size:
6,262 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HSBPL_HUMAN, C9JCN9 (See protein sequence)
Recommended Name: Heat shock factor-binding protein 1-like protein 1  
Size: 74 amino acids; 8384 Da
Secondary accessions: B2RXG9

Explore the universe of human proteins at neXtProt for HSBP1L1: NX_C9JCN9

Explore proteomics data for HSBP1L1 at MOPED


See HSBP1L1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001129652.1  
ENSEMBL proteins: 
 ENSP00000414236   ENSP00000467108  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR009643 HS1-bd

Graphical View of Domain Structure for InterPro Entry C9JCN9

ProtoNet protein and cluster: C9JCN9

UniProtKB/Swiss-Prot: HSBPL_HUMAN, C9JCN9
Similarity: Belongs to the HSBP1 family


HSBP1L1 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular2
nucleus2
cytosol1
plasma membrane1

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HSBP1L1
Interactions:

    Search GeneGlobe Interaction Network for HSBP1L1

1 Interacting protein for HSBP1L1 (C9JCN93) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
NR2F6P105883I2D: score=1 
About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for HSBP1L1 (HSBPL)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for HSBP1L1 gene: 
NM_001136180.1  

Unigene Cluster for HSBP1L1:

Heat shock factor binding protein 1-like 1
Hs.191582  [show with all ESTs]
Unigene Representative Sequence: BM043035
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000451882(uc002lno.4) ENST00000592352 ENST00000589516 ENST00000587347
ENST00000590571
miRNA
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Primer
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  QuantiFast Probe-based Assays in human, mouse, rat HSBP1L1

Additional mRNA sequence: 

AK001829.1 BC017654.1 BC040056.2 BC157848.1 

6 DOTS entries:

DT.95213004  DT.40301994  DT.87046291  DT.97780265  DT.91889936  DT.75145664 

5 AceView cDNA sequences:

AA401438 BX099148 H87293 H87245 AA400006 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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HSBP1L1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TCTGTATTTG
HSBP1L1 Expression
About this image


HSBP1L1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Neurons
         Mature Rod Cells Outer Nuclear Layer
 
 Eye (Sensory Organs)
         Mature Rod Cells Outer Nuclear Layer
HSBP1L1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

HSBP1L1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.191582
    Custom PCR Arrays for HSBP1L1
Primer
Products:
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSBP1L1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for HSBP1L1 gene from Selected species (see all 6)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Hsbp1l11 , 5 heat shock factor binding protein 1-like 11, 5 76.33(n)1
75.36(a)1
  18 (53.35 cM)5
662551  NM_001136181.11  NP_001129653.11 
 802297585 
chicken
(Gallus gallus)
Aves HSBP1L16
Gallus gallus heat shock factor binding protein 1-...
51(a)
1 ↔ 1
2(56276632-56279702)


ENSEMBL Gene Tree for HSBP1L1 (if available)
TreeFam Gene Tree for HSBP1L1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for HSBP1L1 gene
1 SIMAP similar gene for HSBP1L1 using alignment to 2 protein entries:     HSBPL_HUMAN (see all proteins):
HSBP1

HSBP1L1 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for HSBP1L1 (see all 195)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 18 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs80858271,2
C--77722617(+) TCCACA/GCTGGC 1 -- us2k10--------
rs1149621251,2
F--77722754(+) TGTAAT/CTCACA 1 -- us2k11Minor allele frequency- C:0.01WA 118
rs1916559401,2
C--77723040(+) AGGCCC/TGCCTG 1 -- us2k10--------
rs739713191,2
C,F--77723152(+) TTCCAC/TCTTTT 1 -- us2k11Minor allele frequency- T:0.50WA 2
rs1408717021,2
C--77723201(+) GCTGTC/TGTTTC 1 -- us2k10--------
rs1494063031,2
--77723227(+) GTGGCA/GCGGCT 1 -- us2k10--------
rs1840019441,2
--77723308(+) CCCACC/TGGCTG 1 -- us2k10--------
rs1448210341,2
--77723354(+) ACTTAC/GGTTTG 1 -- us2k10--------
rs1156059181,2
C,F--77723371(+) TGATTC/GTAGCC 1 -- us2k11Minor allele frequency- G:0.02WA 118
rs1485911481,2
--77723423(+) TGTGTC/TTTCCT 1 -- us2k10--------

HapMap Linkage Disequilibrium report for HSBP1L1 (77724561 - 77730822 bp)

Structural Variations
     Database of Genomic Variants (DGV) 7 variations for HSBP1L1:    About this table    
Variant IDTypeSubtypePubMed ID
nsv910064CNV Loss21882294
nsv470437CNV Loss18288195
nsv910039CNV Loss21882294
nsv469607CNV Loss16826518
dgv3492n71CNV Loss21882294
nsv910009CNV Loss21882294
nsv428359CNV Gain18775914

Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing HSBP1L1
DNA2.0 Custom Variant and Variant Library Synthesis for HSBP1L1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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1 disease for HSBP1L1:    
About MalaCards
endotheliitis


HSBP1L1 for disorders           About GeneDecksing


Export disorders for HSBP1L1 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for HSBP1L1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with HSBP1L1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
  2. DNA sequence and analysis of human chromosome 18. (PubMed id 16177791)2 Nusbaum C.... Lander E.S. (Nature 2005)
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 440498 HGNC: 37243 AceView: LOC440498 Ensembl:ENSG00000226742 euGenes: HUgn440498
ECgene: HSBP1L1 H-InvDB: HSBP1L1

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for HSBP1L1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for HSBP1L1 gene:
Search GeneIP for patents involving HSBP1L1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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