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Aliases for HBBP1 Gene

Aliases for HBBP1 Gene

  • Hemoglobin Subunit Beta Pseudogene 1 2 3 5
  • Hemoglobin, Beta Pseudogene 1 2 3
  • Beta Globin Pseudogene 3
  • HBH1 3
  • HBHP 3

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 Subunit Beta Pseudogene 1) is a Pseudogene.

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

Promoters for HBBP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HBBP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HBBP1 Gene

Chromosome:
11
Start:
5,241,954 bp from pter
End:
5,243,592 bp from pter
Size:
1,639 bases
Orientation:
Minus strand

Genomic View for HBBP1 Gene

Genes around HBBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HBBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 & Families 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 , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HBBP1 Gene

Localization for HBBP1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HBBP1 Gene COMPARTMENTS Subcellular localization image for HBBP1 gene
Compartment Confidence
cytosol 1

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

Pathways & Interactions for HBBP1 Gene

SuperPathways for HBBP1 Gene

No Data Available

Interacting Proteins for HBBP1 Gene

Gene Ontology (GO) - Biological Process for HBBP1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for HBBP1 Gene

Drugs & Compounds for HBBP1 Gene

No Compound Related Data Available

Transcripts for HBBP1 Gene

mRNA/cDNA for HBBP1 Gene

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

Unigene Clusters for HBBP1 Gene

Hemoglobin, beta pseudogene 1:
Representative Sequences:

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

No ASD Table

Relevant External Links for HBBP1 Gene

GeneLoc Exon Structure for
HBBP1
ECgene alternative splicing isoforms for
HBBP1

Expression for HBBP1 Gene

mRNA expression in normal human tissues for HBBP1 Gene

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

This gene is overexpressed in Whole Blood (x52.0).

SOURCE GeneReport for Unigene cluster for HBBP1 Gene Hs.20205

genes like me logo Genes that share expression patterns with HBBP1: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for HBBP1 Gene

Orthologs for HBBP1 Gene

Evolution for HBBP1 Gene

ENSEMBL:
Gene Tree for HBBP1 (if available)
TreeFam:
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
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
HBBP1

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

Disorders for HBBP1 Gene

Relevant External Links for HBBP1

Genetic Association Database (GAD)
HBBP1
Human Genome Epidemiology (HuGE) Navigator
HBBP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HBBP1

No disorders were found for HBBP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HBBP1 Gene

Publications for HBBP1 Gene

  1. 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 67
  2. 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
  3. GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. (PMID: 23263863) Li J. … Sleiman P.M. (Hum. Mol. Genet. 2013) 3
  4. 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
  5. 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

Products for HBBP1 Gene

Sources for HBBP1 Gene

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