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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.

Additional gene information for HBBP1 Gene

No data available for Entrez Gene Summary , CIViC 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
GH11H005274 1.5 FANTOM5 ENCODE dbSUPER 12.2 -32.0 -31950 2.2 HDAC1 HDGF TBP ATF1 TBL1XR1 ARNT CHAMP1 TCF12 GATA2 ELK1 HBD HBG2 HBB HBG1 HBBP1 ENSG00000221031 OR51V1 OR51B4 GC11M005280 GC11M005255
GH11H005287 1.6 FANTOM5 ENCODE dbSUPER 11.1 -45.2 -45150 3.2 HDGF PKNOX1 ATF1 TCF12 ZNF766 GATA2 FOS ATF7 SMARCB1 ZNF592 HBD HBG2 HBG1 ENSG00000224091 HBBP1 HBB OR51V1 ENSG00000221031 OR52A4P OR51M1
GH11H005288 1 ENCODE dbSUPER 11.1 -42.3 -42266 1.8 KLF1 TAL1 ZNF644 ZKSCAN1 RELA TCF12 CC2D1A ZNF316 POLR2A NCOR1 ENSG00000224091 HBB ENSG00000221031 HBBP1 HBD OR51V1 HBG1 OR51B5 GC11M005283 OR51AB1P
GH11H005272 0.7 dbSUPER 12.2 -29.3 -29270 1.6 HDGF CEBPB MAFG BACH1 CEBPG DPF2 ATF2 ZNF592 NFIC ZNF316 HBG1 HBBP1 HBD HBB ENSG00000221031 OR51V1 OR51B4 HBG2 GC11M005280 GC11M005254
GH11H005281 0.7 FANTOM5 dbSUPER 11.7 -35.3 -35323 0.2 NFYB NR2C1 ZNF592 HBD HBG2 HBG1 HBB ENSG00000221031 HBBP1 OR51B4 GC11M005280 GC11M005254 GC11M005255
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HBBP1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for HBBP1 Gene

Genomic Locations for HBBP1 Gene
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

Phenotypes From GWAS Catalog for HBBP1 Gene

Animal Model Products

Clone 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 , Subcellular locations from the Human Protein Atlas (HPA) 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

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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP 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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
rs1000809009 -- 5,243,144(+) ACAGT(G/T)CAGGT nc-transcript-variant
rs1000870242 -- 5,242,969(+) TAACT(C/T)TCAAA intron-variant
rs1001281019 -- 5,243,124(+) GGGTC(C/T)ACGTG nc-transcript-variant
rs1005714304 -- 5,244,968(+) GGCAG(A/G)GAGAA nc-transcript-variant, upstream-variant-2KB
rs1006594081 -- 5,245,099(+) CATGT(A/G)TATTT nc-transcript-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. Genome-wide analysis of aberrantly expressed lncRNAs and miRNAs with associated co-expression and ceRNA networks in β-thalassemia and hereditary persistence of fetal hemoglobin. (PMID: 28624809) Lai K … He Y (Oncotarget 2017) 2 3 60
  2. A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E. (PMID: 20183929) Nuinoon M … Fucharoen S (Human genetics 2010) 3 45 60
  3. A review of the molecular genetics of the human alpha-globin gene cluster. (PMID: 2649166) Higgs DR … Weatherall DJ (Blood 1989) 2 3 60
  4. GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. (PMID: 23263863) Li J … Sleiman PM (Human molecular genetics 2013) 3 60
  5. A single nucleotide polymorphism in the HBBP1 gene in the human β-globin locus is associated with a mild β-thalassemia disease phenotype. (PMID: 22943111) Giannopoulou E … Patrinos GP (Hemoglobin 2012) 3 60

Products for HBBP1 Gene

Sources for HBBP1 Gene

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