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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

GeneHancer (GH) Regulatory Elements for HBBP1 Gene

Promoters and enhancers for HBBP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J005242 Enhancer 1 Ensembl dbSUPER 600.7 +0.3 338 1.7 MLLT1 CDC5L BACH1 NCOA6 IKZF1 PKNOX1 LEF1 ZNF740 HDAC1 MTA2 HBBP1 HBD HBG2 TRIM68 HBG1 HBB GC11P005064
GH11J005244 Enhancer 0.7 Ensembl dbSUPER 600.7 -1.7 -1709 0.2 SMAD5 NFATC3 IKZF1 KDM1A L3MBTL2 GC11M005294 HBBP1 HBD BGLT3 GC11P005064
GH11J005241 Enhancer 0.5 Ensembl dbSUPER 600.7 +1.9 1891 0.2 ZNF316 HBBP1 HBD HBB GC11P005064
GH11J005274 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 12.2 -31.8 -31818 2.4 CC2D1A CBFA2T2 MLLT1 GTF2F1 TRIM24 ZNF639 SMARCA4 MTA1 GMEB1 DPF2 HBD HBG2 HBB HBG1 HBBP1 ENSG00000221031 OR51V1 OR51B4 GC11M005288 ENSG00000284931
GH11J005287 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.1 -46.0 -45973 4.9 CTCF CC2D1A ZKSCAN8 CBFA2T2 MLLT1 GTF2F1 BACH1 TRIM24 ZNF639 EGR1 HBD HBG2 HBG1 ENSG00000224091 HBBP1 HBB OR51V1 ENSG00000221031 FAM160A2 OR52A4P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HBBP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HBBP1 gene promoter:
  • c-Myb
  • GATA-1
  • IRF-1
  • STAT3
  • TBP
  • TFIID

Genomic Locations for HBBP1 Gene

Genomic Locations for HBBP1 Gene
chr11:5,241,105-5,243,592
(GRCh38/hg38)
Size:
2,488 bases
Orientation:
Minus strand
chr11:5,263,184-5,264,822
(GRCh37/hg19)
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

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

CRISPR 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

PathCards logo

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 to gene/alias where relevant :

Unigene Clusters for HBBP1 Gene

Hemoglobin, beta pseudogene 1:
Representative Sequences:

CRISPR Products

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 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:

HBBP1

SOURCE GeneReport for Unigene cluster for HBBP1 Gene:

Hs.20205
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

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 Variation AA Info Type
rs1000809009 -- 5,243,144(-) G/T non_coding_transcript_variant
rs1000870242 -- 5,242,969(-) C/T intron_variant
rs1001281019 -- 5,243,124(-) C/T non_coding_transcript_variant
rs1005714304 -- 5,244,968(-) A/G upstream_transcript_variant
rs1006594081 -- 5,245,099(-) G/A upstream_transcript_variant

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

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

Additional Variant Information for HBBP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HBBP1

SNP Genotyping and Copy Number Assay Products

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

Disorders for HBBP1 Gene

Additional Disease Information for HBBP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 58
  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 58
  3. A review of the molecular genetics of the human alpha-globin gene cluster. (PMID: 2649166) Higgs DR … Weatherall DJ (Blood 1989) 2 3 58
  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 58
  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 58

Products for HBBP1 Gene

Sources for HBBP1 Gene

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