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hemoglobin, beta pseudogene 1
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Aliases
for HBBP1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA
Quality score for the ORGUL clustered with this gene is 3
| Aliases |
|---|
| Hemoglobin, Beta Pseudogene 11 2 | | HBB5 |
| External Ids: | HGNC: 48281 | Entrez Gene: 30442 | Ensembl: ENSG000002299887 | OMIM: 1419005 | | ORGUL members: | |
|---|
| NONCODE:n405380 | |
Export aliases for HBBP1 gene to outside databasesPrevious GC identifers: GC11M006011 GC11U900033 GC11M005222 GC11M005227 GC11M005219 GC11M004924
|---|
Summaries
for HBBP1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
-- |
Genomic Views
for HBBP1 gene
(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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000011.9 NC_018922.1 NT_009237.18
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the HBBP1 gene promoter:
TBP TFIID c-Myb STAT3 IRF-1 GATA-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for HBBP1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 11p15.5HBBP1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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 |
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Proteins
for HBBP1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB: --
|
Protein
Domains /
Families
for HBBP1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| -- |
Function
for HBBP1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
Genatlas biochemistry entry for HBBP1:hemoglobin,beta,pseudogene 1
|
Pathways & Interactions
for HBBP1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HBBP1
|
Drugs & Compounds
for HBBP1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for HBBP1
Search CenterWatch for drugs/clinical trials and news about HBBP1 
|
Transcripts
for HBBP1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
Unigene Cluster for HBBP1: Hemoglobin, beta pseudogene 1 Hs.20205 [show with all ESTs]Unigene Representative Sequence: BX1097892 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000454892(uc001mag.3) ENST00000433329
Additional cDNA sequence: NR_001589.1 2 DOTS entries: DT.410242 DT.410243 1 AceView cDNA sequence: NR_001589
GeneLoc Exon Structure
|
Expression
for HBBP1 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| HBBP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
Genevestigator expression for HBBP1
SOURCE GeneReport for Unigene cluster: Hs.20205
SABiosciences Custom PCR Arrays for HBBP1
Primer
Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HBBP1
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat HBBP1 | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HBBP1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HBBP1 |
Orthologs
for HBBP1 gene
(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)
About This Section
|
--
ENSEMBL Gene Tree for HBBP1 (if available)
TreeFam Gene Tree for HBBP1 (if available) |
Paralogs
for HBBP1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for HBBP1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 11 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for HBBP1 (5263184 - 5264822 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for HBBP1: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HBBP1 |
|
Disorders
/ Diseases
for HBBP1 gene
(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.)
About This Section
|
HBBP1 for disorders About GeneDecksing
OMIM gene information: 141900
OMIM disorders: 603903 604131 140700 603902
11  diseases for HBBP1: About MalaCardsthalassemia-beta, dominant inclusion-body heinz body anemias, beta- heinz body anemia erythremias, beta-
hereditary persistence of fetal hemoglobin methemoglobinemias, beta- erythremia methemoglobinemia
thalassemia sickle cell anemia anemia
Human Genome Epidemiology (HuGE) Navigator: HBBP1 (2 documents)
Export disorders for HBBP1 gene to outside databases
|
Publications
for HBBP1 gene (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)
About This Section
|
PubMed articles for HBBP1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with HBBP1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- A review of the molecular genetics of the human alpha-globin gene cluster. (PubMed id 2649166)1, 3 Higgs D.R....Weatherall D.J. (1989)
- A single nucleotide polymorphism in the HBBP1 gene in the human b-globin locus is associated with a mild b-thalassemia disease phenoty pe. (PubMed id 22943111)1 Giannopoulou E....Patrinos G.P. (2012)
- A genome-wide association identified the common genet ic variants influence disease severity in beta0-thalassemia/hemoglobin E. (PubMed id 20183929)1 Nuinoon M....Fucharoen S. (2010)
- 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. (2004)
- 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. (1984)
- 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. (2002)
- The polydeoxyadenylate tract of Alu repetitive elemen ts is polymorphic in the human genome. (PubMed id 2326257)9 Economou E.P....Antonarakis S.E. (1990)
|
External Searches for HBBP1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing HBBP1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing HBBP1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing HBBP1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for HBBP1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| 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
|
Products
for HBBP1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 |
| | | | |
 |
 |
|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HBBP1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HBBP1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HBBP1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HBBP1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HBBP1 | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HBBP1 |
| |
 |  |  |  | |
| | | | Search Tocris compounds for HBBP1 |
| |  |  |  |  | | | | |
 |
 |
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 | | | | |  |  |  | | | | Search ThermoFisher Antibodies for HBBP1 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HBBP1 |
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Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013
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