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

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: mouse all
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Genomic context

Location:: 7q22.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (107169003..107202522)
RS_2023_10	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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
HBP1 deficiency protects against stress-induced premature senescence of nucleus pulposus.
Title: HBP1 deficiency protects against stress-induced premature senescence of nucleus pulposus.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SGC34252 (e-PCR)
- UniSTS:10499

D7S1412 (e-PCR)
- UniSTS:62983

WI-17975 (e-PCR)
- UniSTS:21512

Hbp1 (e-PCR), detects polymorphism
- UniSTS:527383

SGC44497 (e-PCR)
- UniSTS:11333

G67890 (e-PCR)
- UniSTS:225618

D7S2108E (e-PCR)
- UniSTS:53609

RH46323 (e-PCR)
- UniSTS:10886

RH16458 (e-PCR)
- UniSTS:27546

STS-N63962 (e-PCR)
- UniSTS:35230

RH12237 (e-PCR)
- UniSTS:41659

G73140 (e-PCR)
- UniSTS:231370

MARC_5215-5216:996690139:1 (e-PCR)
- UniSTS:231370

D7S2333 (e-PCR)
- UniSTS:21746

A004F09 (e-PCR)
- UniSTS:7420

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
part_of 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)

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 ...
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

107169003..107202522

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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