Aliases for HBP1 Gene

Aliases for HBP1 Gene

  • HMG-Box Transcription Factor 1 2 3 5
  • High Mobility Group Box Transcription Factor 1 3 4
  • HMG Box-Containing Protein 1 3 4
  • HMG Box Transcription Factor 1 4
  • HBP1 5

External Ids for HBP1 Gene

Previous GeneCards Identifiers for HBP1 Gene

  • GC07P105293
  • GC07P106356
  • GC07P106369
  • GC07P106403
  • GC07P106596
  • GC07P106809
  • GC07P101170

Summaries for HBP1 Gene

GeneCards Summary for HBP1 Gene

HBP1 (HMG-Box Transcription Factor 1) is a Protein Coding gene. Diseases associated with HBP1 include 46,Xx Sex Reversal 3. Among its related pathways are Regulation of Wnt-mediated beta catenin signaling and target gene transcription and E2F transcription factor network. Gene Ontology (GO) annotations related to this gene include RNA binding.

UniProtKB/Swiss-Prot Summary for HBP1 Gene

  • Transcriptional repressor that binds to the promoter region of target genes. Plays a role in the regulation of the cell cycle and of the Wnt pathway. Binds preferentially to the sequence 5'-TTCATTCATTCA-3'. Binding to the histone H1.0 promoter is enhanced by interaction with RB1. Disrupts the interaction between DNA and TCF4.

Gene Wiki entry for HBP1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HBP1 Gene

Genomics for HBP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HBP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HBP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HBP1

Top Transcription factor binding sites by QIAGEN in the HBP1 gene promoter:
  • AML1a

Genomic Locations for HBP1 Gene

Genomic Locations for HBP1 Gene
chr7:107,168,961-107,202,529
(GRCh38/hg38)
Size:
33,569 bases
Orientation:
Plus strand
chr7:106,809,406-106,842,974
(GRCh37/hg19)
Size:
33,569 bases
Orientation:
Plus strand

Genomic View for HBP1 Gene

Genes around HBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HBP1 Gene

Proteins for HBP1 Gene

  • Protein details for HBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60381-HBP1_HUMAN
    Recommended name:
    HMG box-containing protein 1
    Protein Accession:
    O60381
    Secondary Accessions:
    • B3KVB7
    • Q8TBM1
    • Q8TE93
    • Q96AJ2

    Protein attributes for HBP1 Gene

    Size:
    514 amino acids
    Molecular mass:
    57645 Da
    Quaternary structure:
    • Binds the second PAH repeat of SIN3A (Probable). Binds TCF4 (PubMed:11500377). Binds RB1 (PubMed:10958660).
    SequenceCaution:
    • Sequence=BAB85059.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HBP1 Gene

    Alternative splice isoforms for HBP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HBP1 Gene

Post-translational modifications for HBP1 Gene

  • Ubiquitinated by the CTLH E3 ubiquitin-protein ligase complex, leading to subsequent proteasomal degradation.
  • Ubiquitination at Lys16 and Lys398
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for HBP1

No data available for DME Specific Peptides for HBP1 Gene

Domains & Families for HBP1 Gene

Gene Families for HBP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for HBP1 Gene

Suggested Antigen Peptide Sequences for HBP1 Gene

GenScript: Design optimal peptide antigens:
  • High mobility group box transcription factor 1 (HBP1_HUMAN)
genes like me logo Genes that share domains with HBP1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for HBP1 Gene

Function for HBP1 Gene

Molecular function for HBP1 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor that binds to the promoter region of target genes. Plays a role in the regulation of the cell cycle and of the Wnt pathway. Binds preferentially to the sequence 5'-TTCATTCATTCA-3'. Binding to the histone H1.0 promoter is enhanced by interaction with RB1. Disrupts the interaction between DNA and TCF4.
GENATLAS Biochemistry:
histone hairpin binding protein 1,31kDa,involved in replication-dependent histone gene expression

Phenotypes From GWAS Catalog for HBP1 Gene

Gene Ontology (GO) - Molecular Function for HBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IBA 21873635
GO:0003677 DNA binding IEA --
GO:0003723 RNA binding IEA --
genes like me logo Genes that share ontologies with HBP1: view
genes like me logo Genes that share phenotypes with HBP1: view

Animal Model Products

CRISPR Products

miRNA for HBP1 Gene

miRTarBase miRNAs that target HBP1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HBP1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HBP1 Gene

Localization for HBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HBP1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HBP1 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0016607 nuclear speck IDA --
genes like me logo Genes that share ontologies with HBP1: view

Pathways & Interactions for HBP1 Gene

genes like me logo Genes that share pathways with HBP1: view

SIGNOR curated interactions for HBP1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for HBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007050 cell cycle arrest NAS 9030690
GO:0016055 Wnt signaling pathway IEA --
genes like me logo Genes that share ontologies with HBP1: view

Drugs & Compounds for HBP1 Gene

No Compound Related Data Available

Transcripts for HBP1 Gene

mRNA/cDNA for HBP1 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HBP1

Alternative Splicing Database (ASD) splice patterns (SP) for HBP1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b · 11c ^
SP1: - -
SP2: - - - - - - -
SP3: -
SP4: -
SP5: - - - - - - -
SP6: - - - - - - - - - - - - - -
SP7: - - -
SP8: - - - - -
SP9: - - -
SP10: - - - - -
SP11: - - - - - -
SP12:
SP13:

ExUns: 12a · 12b · 12c ^ 13a · 13b ^ 14a · 14b
SP1: - -
SP2: - -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11:
SP12:
SP13:

Relevant External Links for HBP1 Gene

GeneLoc Exon Structure for
HBP1

Expression for HBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HBP1 Gene

This gene is overexpressed in Pancreatic juice (27.0), Urine (25.5), and Peripheral blood mononuclear cells (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HBP1 Gene



Protein tissue co-expression partners for HBP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HBP1

SOURCE GeneReport for Unigene cluster for HBP1 Gene:

Hs.162032

Evidence on tissue expression from TISSUES for HBP1 Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Lung(2.6)
  • Skin(2.2)
  • Heart(2.2)
  • Kidney(2.1)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with HBP1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HBP1 Gene

Orthologs for HBP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HBP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HBP1 30 31
  • 99.87 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HBP1 30 31
  • 94.19 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HBP1 30 31
  • 92.78 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Hbp1 30 17 31
  • 92.37 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hbp1 30
  • 90.87 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia HBP1 31
  • 86 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HBP1 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HBP1 30 31
  • 81.41 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HBP1 31
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hbp1 30
  • 75.98 (n)
Str.1878 30
African clawed frog
(Xenopus laevis)
Amphibia hbp1-A 30
Zebrafish
(Danio rerio)
Actinopterygii hbp1 30 31
  • 66.6 (n)
OneToOne
Species where no ortholog for HBP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for HBP1 Gene

ENSEMBL:
Gene Tree for HBP1 (if available)
TreeFam:
Gene Tree for HBP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HBP1: view image

Paralogs for HBP1 Gene

(17) SIMAP similar genes for HBP1 Gene using alignment to 9 proteins:

  • HBP1_HUMAN
  • C9J5U3_HUMAN
  • C9J8V6_HUMAN
  • C9JAW1_HUMAN
  • C9JPK6_HUMAN
  • C9JQU7_HUMAN
  • H7C4S2_HUMAN
  • H7C574_HUMAN
  • U3KQE5_HUMAN
genes like me logo Genes that share paralogs with HBP1: view

No data available for Paralogs for HBP1 Gene

Variants for HBP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HBP1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
908663 Uncertain Significance: Congenital disorder of glycosylation type 2i 107,202,273(+) A/G THREE_PRIME_UTR_VARIANT
911613 Uncertain Significance: Congenital disorder of glycosylation type 2i 107,201,774(+) C/T THREE_PRIME_UTR_VARIANT
911614 Uncertain Significance: Congenital disorder of glycosylation type 2i 107,202,048(+) C/A THREE_PRIME_UTR_VARIANT
911615 Uncertain Significance: Congenital disorder of glycosylation type 2i 107,202,067(+) C/T THREE_PRIME_UTR_VARIANT
911616 Uncertain Significance: Congenital disorder of glycosylation type 2i 107,202,090(+) T/C THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for HBP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for HBP1 Gene

Variant ID Type Subtype PubMed ID
esv3614455 CNV loss 21293372
nsv831087 CNV gain 17160897

Variation tolerance for HBP1 Gene

Residual Variation Intolerance Score: 16.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.51; 29.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HBP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HBP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HBP1 Gene

Disorders for HBP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HBP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
46,xx sex reversal 3
  • srxx3
- elite association - COSMIC cancer census association via MalaCards
Search HBP1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with HBP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HBP1 Gene

Publications for HBP1 Gene

  1. Negative regulation of the Wnt-beta-catenin pathway by the transcriptional repressor HBP1. (PMID: 11500377) Sampson EM … Yee AS (The EMBO journal 2001) 2 3 4 23
  2. Human HMG box transcription factor HBP1: a role in hCD2 LCR function. (PMID: 10562551) Zhuma T … Kioussis D (The EMBO journal 1999) 3 4 23
  3. HBP1: a HMG box transcriptional repressor that is targeted by the retinoblastoma family. (PMID: 9030690) Tevosian SG … Yee AS (Genes & development 1997) 2 3 23
  4. The multi-subunit GID/CTLH E3 ubiquitin ligase promotes cell proliferation and targets the transcription factor Hbp1 for degradation. (PMID: 29911972) Lampert F … Peter M (eLife 2018) 3 4
  5. Macrophage migration inhibitory factor is a direct target of HBP1-mediated transcriptional repression that is overexpressed in prostate cancer. (PMID: 20383199) Chen YC … Mao ZB (Oncogene 2010) 3 23

Products for HBP1 Gene

  • Signalway ELISA kits for HBP1
  • Signalway Proteins for HBP1

Sources for HBP1 Gene