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    HBP1 HMG-box transcription factor 1 [ Homo sapiens (human) ]

    Gene ID: 26959, updated on 10-Dec-2024

    Summary

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    Official Symbol
    HBP1provided by HGNC
    Official Full Name
    HMG-box transcription factor 1provided by HGNC
    Primary source
    HGNC:HGNC:23200
    See related
    Ensembl:ENSG00000105856 MIM:616714; AllianceGenome:HGNC:23200
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of lipid transport; negative regulation of reactive oxygen species biosynthetic process; and negative regulation of transcription by RNA polymerase II. Located in nuclear speck. Biomarker of osteoarthritis. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 32.0), endometrium (RPKM 26.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HBP1 in Genome Data Viewer
    Location:
    7q22.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (107169003..107202522)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (108485055..108518576)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (106809448..106842967)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26490 Neighboring gene phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma Neighboring gene CRISPRi-validated cis-regulatory element chr7.4040 Neighboring gene CRISPRi-validated cis-regulatory element chr7.4041 Neighboring gene CRISPRi-validated cis-regulatory element chr7.4042 Neighboring gene CRISPRi-validated cis-regulatory element chr7.4045 Neighboring gene CRISPRi-validated cis-regulatory element chr7.4046 Neighboring gene CRISPRi-validated cis-regulatory element chr7.4048 Neighboring gene CRISPRi-validated cis-regulatory element chr7.4050 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:106681203-106681414 Neighboring gene Sharpr-MPRA regulatory region 8060 Neighboring gene PRKAR2B antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 12069 Neighboring gene protein kinase cAMP-dependent type II regulatory subunit beta Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:106792322-106793521 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:106808976-106809549 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18537 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18538 Neighboring gene uncharacterized LOC124901720 Neighboring gene uncharacterized LOC124901721 Neighboring gene component of oligomeric golgi complex 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Transcription Factor HBP1 Enhances Radiosensitivity by Inducing Apoptosis in Prostate Cancer Cell Lines. Chen Y, et al. Anal Cell Pathol (Amst), 2016. PMID 26942107, Free PMC Article
    2. Involvement of retinoblastoma protein and HBP1 in histone H1(0) gene expression. Lemercier C, et al. Mol Cell Biol, 2000 Sep. PMID 10958660, Free PMC Article
    3. HBP1 deficiency protects against stress-induced premature senescence of nucleus pulposus. Liu W, et al. Eur Rev Med Pharmacol Sci, 2020 Sep. PMID 32964956
    4. Regulatory role of transcription factor HBP1 in anticancer efficacy of EGFR inhibitor erlotinib in HNSCC. Chan CY, et al. Head Neck, 2020 Oct. PMID 32677158
    5. Effects of overexpression of HBP1 upon growth and differentiation of leukemic myeloid cells. Yao CJ, et al. Leukemia, 2005 Nov. PMID 16179914

    See all (69) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Targeting of HBP1/TIMP3 axis as a novel strategy against breast cancer.
      Title: Targeting of HBP1/TIMP3 axis as a novel strategy against breast cancer.
    2. UHRF1 regulates the transcriptional repressor HBP1 through MIF in T acute lymphoblastic leukemia.
      Title: UHRF1 regulates the transcriptional repressor HBP1 through MIF in T acute lymphoblastic leukemia.
    3. miR-146b Functions as an Oncogene in Oral Squamous Cell Carcinoma by Targeting HBP1.
      Title: miR-146b Functions as an Oncogene in Oral Squamous Cell Carcinoma by Targeting HBP1.
    4. Regulatory role of transcription factor HBP1 in anticancer efficacy of EGFR inhibitor erlotinib in HNSCC.
      Title: Regulatory role of transcription factor HBP1 in anticancer efficacy of EGFR inhibitor erlotinib in HNSCC.
    5. HBP1 deficiency protects against stress-induced premature senescence of nucleus pulposus.
      Title: HBP1 deficiency protects against stress-induced premature senescence of nucleus pulposus.
    6. Suppression of p38/HBP1 pathway alleviates hyperosmotic stress-induced senescent progression of chondrocyte senescence.
      Title: Suppression of p38/HBP1 pathway alleviates hyperosmotic stress-induced senescent progression of chondrocyte senescence.
    7. Reduced HBP1 expression and subsequent MMP-13 upregulation may play a pivotal role in the invasiveness of oral cancer.
      Title: Matrix metalloproteinase-13 is a target gene of high-mobility group box-containing protein 1 in modulating oral cancer cell invasion.
    8. MDM2 facilitates HBP1 proteasomal degradation by ubiquitinating HBP1, regardless of p53 status, thus attenuating the transcriptional inhibition of HBP1 in the expression of its target genes, such as the DNA methyltransferase DNMT1 and histone methyltransferase EZH2, which results in global DNA hypermethylation and histone hypermethylation and ultimately genome instability.
      Title: MDM2 promotes genome instability by ubiquitinating the transcription factor HBP1.
    9. Our experiment also verified the target relationship between miR-21 and HBP1. MiR-21 may affect migration and invasion ability of drug-resistant lung adenocarcinoma cells by targeting HBP1, therefore modulating EMT.
      Title: MiR-21 improves invasion and migration of drug-resistant lung adenocarcinoma cancer cell and transformation of EMT through targeting HBP1.
    10. HBP1 functions as a tumor suppressor, and its ectopic expression hindered cell proliferation of non-small-cell lung cancer (NSCLC). AFAP1-AS1 repressed HBP1 expression by recruiting LSD1 to the HBP1 promoter regions in NSCLC cell lines.
      Title: Long noncoding RNA actin filament-associated protein 1 antisense RNA 1 promotes malignant phenotype through binding with lysine-specific demethylase 1 and repressing HMG box-containing protein 1 in non-small-cell lung cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (43)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ16340

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cell cycle NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    HMG box-containing protein 1
    Names
    high mobility group box transcription factor 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001244262.2 → NP_001231191.1  HMG box-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001231191.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK295910, BC017069
      UniProtKB/TrEMBL
      B4DJ36, O14790
      Conserved Domains (2) summary
      smart00536
      Location:224 → 350
      AXH; domain in Ataxins and HMG containing proteins
      cd01388
      Location:443 → 514
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...

    2. NM_012257.4 → NP_036389.2  HMG box-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_036389.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' exon and uses a downstream start codon, compared to variant 1. Isoform 2 has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC004492, AF182038, BC017069
      Consensus CDS
      CCDS5741.1
      UniProtKB/Swiss-Prot
      B3KVB7, O60381, Q8TBM1, Q8TE93, Q96AJ2
      UniProtKB/TrEMBL
      O14790
      Related
      ENSP00000222574.4, ENST00000222574.9
      Conserved Domains (2) summary
      smart00536
      Location:214 → 340
      AXH; domain in Ataxins and HMG containing proteins
      cd01388
      Location:433 → 504
      SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      107169003..107202522
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446714.2 → XP_024302482.1  HMG box-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KVB7, O60381, Q8TBM1, Q8TE93, Q96AJ2
      UniProtKB/TrEMBL
      O14790
      Conserved Domains (2) summary
      smart00536
      Location:214 → 340
      AXH; domain in Ataxins and HMG containing proteins
      cd01388
      Location:433 → 504
      SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...

    2. XM_017011967.3 → XP_016867456.1  HMG box-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KVB7, O60381, Q8TBM1, Q8TE93, Q96AJ2
      UniProtKB/TrEMBL
      O14790
      Conserved Domains (2) summary
      smart00536
      Location:214 → 340
      AXH; domain in Ataxins and HMG containing proteins
      cd01388
      Location:433 → 504
      SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...

    3. XM_047420190.1 → XP_047276146.1  HMG box-containing protein 1 isoform X2

    4. XM_024446713.2 → XP_024302481.1  HMG box-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KVB7, O60381, Q8TBM1, Q8TE93, Q96AJ2
      UniProtKB/TrEMBL
      O14790
      Conserved Domains (2) summary
      smart00536
      Location:214 → 340
      AXH; domain in Ataxins and HMG containing proteins
      cd01388
      Location:433 → 504
      SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...

    5. XM_005250266.4 → XP_005250323.1  HMG box-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005250323.1

      UniProtKB/Swiss-Prot
      B3KVB7, O60381, Q8TBM1, Q8TE93, Q96AJ2
      UniProtKB/TrEMBL
      O14790
      Related
      ENSP00000418738.1, ENST00000485846.5
      Conserved Domains (2) summary
      smart00536
      Location:214 → 340
      AXH; domain in Ataxins and HMG containing proteins
      cd01388
      Location:433 → 504
      SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_017852930.1 Reference GRCh38.p14 PATCHES

      Range
      14525..48044
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332131.1 → XP_054188106.1  HMG box-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KVB7, O60381, Q8TBM1, Q8TE93, Q96AJ2
      UniProtKB/TrEMBL
      O14790

    2. XM_054332132.1 → XP_054188107.1  HMG box-containing protein 1 isoform X2

    3. XM_054332130.1 → XP_054188105.1  HMG box-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KVB7, O60381, Q8TBM1, Q8TE93, Q96AJ2
      UniProtKB/TrEMBL
      O14790

    4. XM_054332129.1 → XP_054188104.1  HMG box-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KVB7, O60381, Q8TBM1, Q8TE93, Q96AJ2
      UniProtKB/TrEMBL
      O14790

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      108485055..108518576
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357875.1 → XP_054213850.1  HMG box-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KVB7, O60381, Q8TBM1, Q8TE93, Q96AJ2
      UniProtKB/TrEMBL
      O14790

    2. XM_054357874.1 → XP_054213849.1  HMG box-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KVB7, O60381, Q8TBM1, Q8TE93, Q96AJ2
      UniProtKB/TrEMBL
      O14790

    3. XM_054357876.1 → XP_054213851.1  HMG box-containing protein 1 isoform X2

    4. XM_054357873.1 → XP_054213848.1  HMG box-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KVB7, O60381, Q8TBM1, Q8TE93, Q96AJ2
      UniProtKB/TrEMBL
      O14790

    5. XM_054357872.1 → XP_054213847.1  HMG box-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KVB7, O60381, Q8TBM1, Q8TE93, Q96AJ2
      UniProtKB/TrEMBL
      O14790
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60381.2 GenPept UniProtKB/Swiss-Prot:O60381

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