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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

Enhancers for HBBP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F005274 1.2 FANTOM5 ENCODE 12.2 -32.0 -31950 2.2 TBP HDAC1 CBX3 ATF1 ARNT TBL1XR1 CHAMP1 GATA2 CREM ZBTB2 HBD HBG2 HBB HBG1 HBBP1 ENSG00000221031 OR51V1 OR51B4 GC11M005280 ENSG00000279346
GH11F005287 1.3 FANTOM5 ENCODE 11.1 -45.2 -45150 3.2 YBX3 TBP HDAC1 CBX3 ATF1 ARNT TBL1XR1 GATA2 FOS CREM HBD HBG2 HBG1 ENSG00000224091 HBBP1 HBB OR51V1 ENSG00000221031 OR52A4P OR51M1
GH11F005284 0.8 ENCODE 11.1 -42.3 -42266 1.8 TAL1 RELA ZKSCAN1 ZNF316 NCOR1 POLR2A NR2F6 STAT1 ZBTB11 NCOA1 ENSG00000224091 HBB ENSG00000221031 HBBP1 HBD OR51V1 HBG1 OR51B5 GC11M005283 LCRB
GH11F005278 0.4 FANTOM5 11.6 -35.3 -35323 0.2 NFYB HBD HBG2 HBG1 HBB ENSG00000221031 HBBP1 OR51B4 GC11M005280 ENSG00000279346
GH11F005242 0.9 Ensembl 0.8 -0.7 -705 3.4 HDAC1 CBX3 PKNOX1 ZBTB40 CHAMP1 GATA2 SIRT6 CREM SMARCA5 SMAD5 HBG2 HBG1 GC11M005252 HBBP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HBBP1 on UCSC Golden Path with GeneCards custom track

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

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

Animal Model Products

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS 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


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

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
ECgene alternative splicing isoforms for

Expression for HBBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HBBP1 Gene

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

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

NURSA nuclear receptor signaling pathways regulating expression of HBBP1 Gene:


SOURCE GeneReport for Unigene cluster for HBBP1 Gene:

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

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
rs10128555 -- 5,242,347(+) TTTTT(C/G)ACCAG intron-variant
rs10128556 -- 5,242,453(+) CTATG(C/T)CAACT intron-variant
rs1047122 -- 5,244,895(-) CATGA(G/T)ACACG nc-transcript-variant, upstream-variant-2KB
rs11036415 -- 5,241,552(+) TAAAT(A/C)ATAAA downstream-variant-500B
rs11036431 -- 5,244,450(+) GGTGT(A/G)AGCCA intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv1036997 CNV gain 25217958
dgv183e214 CNV loss 21293372
dgv1041n100 CNV loss 25217958

Relevant External Links for HBBP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:

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 46 64
  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 64
  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 64
  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 64
  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 64

Products for HBBP1 Gene

Sources for HBBP1 Gene

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