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

Gene ID: 26959, updated on 12-Aug-2022

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
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Genomic context

See HBP1 in Genome Data Viewer
Location:
7q22.3
Exon count:
14
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (107169003..107202522)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (108485055..108518576)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (106809448..106842967)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes 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 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
  • 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

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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 

General protein information

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_001244262.2NP_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/Swiss-Prot
    O60381
    UniProtKB/TrEMBL
    B4DJ36
    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
    O60381, Q96AJ2
    UniProtKB/TrEMBL
    A0A024R722
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    Q96AJ2
    UniProtKB/TrEMBL
    A0A024R722
    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
    O60381, Q96AJ2
    UniProtKB/TrEMBL
    A0A024R722
    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
    Q96AJ2
    UniProtKB/TrEMBL
    A0A024R722
    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
    O60381, Q96AJ2
    UniProtKB/TrEMBL
    A0A024R722
    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)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

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