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Aliases for HBBP1 Gene

Aliases for HBBP1 Gene

  • Hemoglobin, Beta Pseudogene 1 2 3
  • Beta Globin Pseudogene 3
  • HBH1 3
  • HBHP 3
  • HBB 6

External Ids for HBBP1 Gene

Previous GeneCards Identifiers for HBBP1 Gene

  • GC11M006011
  • GC11U900033
  • GC11M005222
  • GC11M005227
  • GC11M005219
  • GC11M005263
  • GC11M004924

Summaries for HBBP1 Gene

GeneCards Summary for HBBP1 Gene

HBBP1 (Hemoglobin, Beta Pseudogene 1) is a Pseudogene. Among its related pathways are Hemostasis and Metabolism.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HBBP1 Gene

Genomics for HBBP1 Gene

Regulatory Elements for HBBP1 Gene

Genomic Location for HBBP1 Gene

5,241,954 bp from pter
5,243,592 bp from pter
1,639 bases
Minus strand

Genomic View for HBBP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HBBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HBBP1 Gene

Proteins for HBBP1 Gene

Post-translational modifications for HBBP1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for HBBP1 Gene

Domains for HBBP1 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for HBBP1 Gene

Function for HBBP1 Gene

Molecular function for HBBP1 Gene

GENATLAS Biochemistry:
hemoglobin,beta,pseudogene 1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for HBBP1 Gene

Localization for HBBP1 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for HBBP1 Gene

Transcripts for HBBP1 Gene

mRNA/cDNA for HBBP1 Gene

(1) Selected AceView cDNA sequences:
(1) Additional mRNA sequences :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HBBP1 Gene

Hemoglobin, beta pseudogene 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HBBP1

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HBBP1 Gene

No ASD Table

Relevant External Links for HBBP1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HBBP1 Gene

mRNA expression in normal human tissues for HBBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HBBP1 Gene

This gene is overexpressed in Whole Blood (52.0).

SOURCE GeneReport for Unigene cluster for HBBP1 Gene Hs.20205

genes like me logo Genes that share expressions with HBBP1: view

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Expression partners for HBBP1 Gene

Orthologs for HBBP1 Gene

Evolution for HBBP1 Gene

Gene Tree for HBBP1 (if available)
Gene Tree for HBBP1 (if available)

No data available for Orthologs for HBBP1 Gene

Paralogs for HBBP1 Gene

No data available for Paralogs for HBBP1 Gene

Variants for HBBP1 Gene

Sequence variations from dbSNP and Humsavar for HBBP1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs2071348 -- 5,242,916(-) CTATG(A/C)ATAAT intron-variant
rs7934275 -- 5,243,699(+) TCAGT(A/G)AAATG upstream-variant-2KB
rs10128555 -- 5,242,347(+) TTTTT(C/G)ACCAG intron-variant
rs10128556 -- 5,242,453(+) CTATG(C/T)CAACT intron-variant
rs11036415 -- 5,241,552(+) TAAAT(A/C)ATAAA downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for HBBP1 Gene

Variant ID Type Subtype PubMed ID
nsv896929 CNV Loss 21882294

Relevant External Links for HBBP1 Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HBBP1 Gene

Disorders for HBBP1 Gene

(7) OMIM Diseases for HBBP1 Gene (141900)

Relevant External Links for HBBP1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator

No disorders were found for HBBP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for HBBP1 Gene

Publications for HBBP1 Gene

  1. A review of the molecular genetics of the human alpha-globin gene cluster. (PMID: 2649166) Higgs D.R. … Weatherall D.J. (Blood 1989) 2 3
  2. A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E. (PMID: 20183929) Nuinoon M. … Fucharoen S. (Hum. Genet. 2010) 3 48
  3. A single nucleotide polymorphism in the HBBP1 gene in the human I^-globin locus is associated with a mild I^-thalassemia disease phenotype. (PMID: 22943111) Giannopoulou E. … Patrinos G.P. (Hemoglobin 2012) 3
  4. Influence of BCL11A, HBS1L-MYB, HBBP1 single nucleotide polymorphisms and the HBG2 XmnI polymorphism On Hb F levels. (PMID: 23094636) Roy P. … Das M. (Hemoglobin 2012) 3
  5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3

Products for HBBP1 Gene

Sources for HBBP1 Gene

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