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HBBP1 Gene

pseudogene   GIFtS: 30
GCID: GC11M005263

Hemoglobin, Beta Pseudogene 1

  See related diseases
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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Aliases
Hemoglobin, Beta Pseudogene 11 2
HBB5

External Ids:    HGNC: 48281   Entrez Gene: 30442   Ensembl: ENSG000002299887   OMIM: 1419005   

Export aliases for HBBP1 gene to outside databases

Previous GC identifers: GC11M006011 GC11U900033 GC11M005222 GC11M005227 GC11M005219 GC11M004924


(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 HBBP1 Gene:
HBBP1 (hemoglobin, beta pseudogene 1) is a pseudogene. Diseases associated with HBBP1 include heinz body anemias, beta-, and thalassemia-beta, dominant inclusion-body.


(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_000011.10  NC_018922.2  NT_009237.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the HBBP1 gene promoter:
         TBP   TFIID   c-Myb   STAT3   IRF-1   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHBBP1 promoter sequence
   Search Chromatin IP Primers for HBBP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HBBP1


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

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.4   HGNC cytogenetic band: 11p15.5

HBBP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HBBP1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M005263:  view genomic region     (about GC identifiers)

Start:
5,263,184 bp from pter      End:
5,264,822 bp from pter
Size:
1,639 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for HBBP1

(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: --


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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(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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Molecular Function:
     Genatlas biochemistry entry for HBBP1:
hemoglobin,beta,pseudogene 1

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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(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 HBBP1
Interactions:

    Search GeneGlobe Interaction Network for HBBP1

(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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(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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Unigene Cluster for HBBP1:

Hemoglobin, beta pseudogene 1
Hs.20205  [show with all ESTs]
Unigene Representative Sequence: BX109789
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000454892(uc001mag.3) ENST00000433329
miRNA
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Additional mRNA sequence: NR_001589.1 

2 DOTS entries:

DT.410242  DT.410243 

1 AceView cDNA sequence:

NR_001589 

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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HBBP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
HBBP1 Expression
About this image


HBBP1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 
 Blood (Hematopoietic System)
         Erythroblasts Hematopoietic Bone Marrow
HBBP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

SOURCE GeneReport for Unigene cluster: Hs.20205
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In Situ
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(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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ENSEMBL Gene Tree for HBBP1 (if available)
TreeFam Gene Tree for HBBP1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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(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 HBBP1 (see all 111)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 11 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs110364151,2
C,F,A,H--5262782(+) TAAATC/AATAAA 1 -- ds500112Minor allele frequency- A:0.28NA WA CSA NS EA 728
rs1892498691,2
--5262789(+) TAAAAA/TATATG 1 -- ds50010--------
rs1822076851,2
--5262824(+) CTGCAA/GTCACC 1 -- ds50010--------
rs1872148411,2
--5262836(+) AATGAA/GCTATA 1 -- ds50010--------
rs118201141,2
C,F,H--5262843(+) TATATC/ACTGAG 1 -- ds50018Minor allele frequency- A:0.02NS EA NA 780
rs340337251,2
C--5262849(+) CTGAGT/-TTCAT 1 -- ds50012Minor allele frequency- -:0.13CSA NS 356
rs1817484251,2
--5262866(+) AATAGC/TCTATA 1 -- ds50010--------
rs752441711,2
C,F--5262990(+) AGAGAC/TGATTT 1 -- ds50012Minor allele frequency- T:0.02NS WA 488
rs169122031,2
C,F,H--5262991(+) GAGACG/AATTTC 1 -- ds500112Minor allele frequency- A:0.11NA NS EA WA CSA 1057
rs1856483791,2
--5263005(+) TTCCTA/GGGAGT 1 -- ds50010--------

HapMap Linkage Disequilibrium report for HBBP1 (5263184 - 5264822 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for HBBP1:    About this table    
Variant IDTypeSubtypePubMed ID
nsv896929CNV Loss21882294

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing HBBP1
DNA2.0 Custom Variant and Variant Library Synthesis for HBBP1

(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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OMIM gene information: 141900   
OMIM disorders: 603903  613985  140700  603902  141749  611162  
10 diseases for HBBP1:    
About MalaCards
heinz body anemias, beta-    thalassemia-beta, dominant inclusion-body    thalassemias, beta-    heinz body anemias
heinz body anemia    hereditary persistence of fetal hemoglobin    methemoglobinemia    sickle cell anemia
thalassemia    obesity


HBBP1 for disorders           About GeneDecksing

Genetic Association Database (GAD): HBBP1
Human Genome Epidemiology (HuGE) Navigator: HBBP1 (2 documents)

Export disorders for HBBP1 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 HBBP1 gene, integrated from 10 sources (see all 11):
(articles sorted by number of sources associating them with HBBP1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E. (PubMed id 20183929)1, 4 Nuinoon M....Fucharoen S. (Hum. Genet. 2010)
  2. A review of the molecular genetics of the human alpha-globin gene cluster. (PubMed id 2649166)1, 3 Higgs D.R....Weatherall D.J. (Blood 1989)
  3. GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. (PubMed id 23263863)1 Li J....Sleiman P.M. (Hum. Mol. Genet. 2013)
  4. A single nucleotide polymorphism in the HBBP1 gene in the human I^-globin locus is associated with a mild I^-thalassemia disease phenotype. (PubMed id 22943111)1 Giannopoulou E....Patrinos G.P. (Hemoglobin 2012)
  5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
  6. Influence of BCL11A, HBS1L-MYB, HBBP1 single nucleotide polymorphisms and the HBG2 XmnI polymorphism On Hb F levels. (PubMed id 23094636)1 Roy P....Das M. (Hemoglobin 2012)
  7. Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis. (PubMed id 15108284)1 Vrettou C....Kanavakis E. (Hum. Mutat. 2004)
  8. Isolation and nucleotide sequence analysis of the beta-type globin pseudogene from human, gorilla and chimpanzee. (PubMed id 6098690)1 Chang L.Y. and Slightom J.L. (J. Mol. Biol. 1984)
  9. (PubMed id 19924444)4 
  10. Confirmation of the potential usefulness of two human beta globin pseudogene markers to estimate gene flows to and from sub-Saharan Africans. (PubMed id 12030652)9 Ciminelli B.M....Pardo M.G. (Hum. Biol. 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: 3044 HGNC: 4828 AceView: HBBP1 Ensembl:ENSG00000229988 euGenes: HUgn3044
ECgene: HBBP1 H-InvDB: HBBP1

(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 HBBP1 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 HBBP1 gene:
Search GeneIP for patents involving HBBP1

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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