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

    Gene ID: 26959, updated on 18-Sep-2024

    Summary

    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, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 32.0), endometrium (RPKM 26.6) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001244262.2NP_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:224350
      AXH; domain in Ataxins and HMG containing proteins
      cd01388
      Location:443514
      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_012257.4NP_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:214340
      AXH; domain in Ataxins and HMG containing proteins
      cd01388
      Location:433504
      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_024446714.2XP_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:214340
      AXH; domain in Ataxins and HMG containing proteins
      cd01388
      Location:433504
      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_017011967.3XP_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:214340
      AXH; domain in Ataxins and HMG containing proteins
      cd01388
      Location:433504
      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_047420190.1XP_047276146.1  HMG box-containing protein 1 isoform X2

    4. XM_024446713.2XP_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:214340
      AXH; domain in Ataxins and HMG containing proteins
      cd01388
      Location:433504
      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_005250266.4XP_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:214340
      AXH; domain in Ataxins and HMG containing proteins
      cd01388
      Location:433504
      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_054332131.1XP_054188106.1  HMG box-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KVB7, O60381, Q8TBM1, Q8TE93, Q96AJ2
      UniProtKB/TrEMBL
      O14790
    2. XM_054332132.1XP_054188107.1  HMG box-containing protein 1 isoform X2

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

      UniProtKB/Swiss-Prot
      B3KVB7, O60381, Q8TBM1, Q8TE93, Q96AJ2
      UniProtKB/TrEMBL
      O14790
    4. XM_054332129.1XP_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_054357875.1XP_054213850.1  HMG box-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KVB7, O60381, Q8TBM1, Q8TE93, Q96AJ2
      UniProtKB/TrEMBL
      O14790
    2. XM_054357874.1XP_054213849.1  HMG box-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KVB7, O60381, Q8TBM1, Q8TE93, Q96AJ2
      UniProtKB/TrEMBL
      O14790
    3. XM_054357876.1XP_054213851.1  HMG box-containing protein 1 isoform X2

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

      UniProtKB/Swiss-Prot
      B3KVB7, O60381, Q8TBM1, Q8TE93, Q96AJ2
      UniProtKB/TrEMBL
      O14790
    5. XM_054357872.1XP_054213847.1  HMG box-containing protein 1 isoform X1

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