DBP D-box binding PAR bZIP transcription factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: DBPprovided by HGNC
Official Full Name: D-box binding PAR bZIP transcription factorprovided by HGNC
Primary source: HGNC:HGNC:2697
See related: Ensembl:ENSG00000105516 MIM:124097
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DABP; taxREB302
Summary: The protein encoded by this gene is a member of the PAR bZIP transcription factor family and binds to specific sequences in the promoters of several genes, such as albumin, CYP2A4, and CYP2A5. The encoded protein can bind DNA as a homo- or heterodimer and is involved in the regulation of some circadian rhythm genes. [provided by RefSeq, Jul 2014]
Expression: Ubiquitous expression in ovary (RPKM 6.3), spleen (RPKM 6.2) and 25 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 19q13.33

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
109.20200228	current	GRCh38.p13 (GCF_000001405.39)	19	NC_000019.10 (48630030..48637379, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (49133817..49140639, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

the expression of DBP and MAPK in epilepsy patients was upregulated, suggesting a possible pathogenetic role in IE.
Title: Upregulation of D site of albumin promoter binding protein in the brain of patients with intractable epilepsy.
Lean individuals exhibited significant (P < 0.05) temporal changes of core clock (PER1, PER2, PER3, CRY2, BMAL1, and DBP) and metabolic (REVERBalpha, RIP140, and PGC1alpha) genes.
Title: Rhythmic diurnal gene expression in human adipose tissue from individuals who are lean, overweight, and type 2 diabetic.
Observational study of gene-disease association. (HuGE Navigator)
Title: Systematic analysis of circadian genes in a population-based sample reveals association of TIMELESS with depression and sleep disturbance.

Submit: New GeneRIF Correction

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

NHGRI GWAS Catalog

Description
Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. NHGRI GWA Catalog NHGRI GWA CatalogPubMed

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

RH47213 (e-PCR)
- UniSTS:52739

RH75877 (e-PCR)
- UniSTS:91408

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2279 (e-PCR)
- UniSTS:473907

D7S3207 (e-PCR)
- UniSTS:229489

RH36905 (e-PCR)
- UniSTS:87932

RH103095 (e-PCR)
- UniSTS:97429

Homology

Homologs of the DBP gene: The DBP gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, and frog.
Orthologs from Annotation Pipeline: 163 organisms have orthologs with human gene DBP
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
DNA-binding transcription factor activity, RNA polymerase II-specific	ISM Inferred from Sequence Model more info	PubMed
RNA polymerase II regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
RNA polymerase II regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
circadian rhythm	IEA Inferred from Electronic Annotation more info
liver development	IEA Inferred from Electronic Annotation more info
positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
regulation of transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
nuclear chromatin	ISA Inferred from Sequence Alignment more info
nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: D site-binding protein

Names: D site of albumin promoter (albumin D-box) binding protein; albumin D box-binding protein; albumin D-element-binding protein; tax-responsive enhancer element-binding protein 302

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_001352.5 → NP_001343.2 D site-binding protein

See identical proteins and their annotated locations for NP_001343.2

Status: REVIEWED

Source sequence(s)

AC022154, BC011965, CA425431, DA068934

Consensus CDS

CCDS12728.1

UniProtKB/Swiss-Prot

Q10586

Related

ENSP00000222122.4, ENST00000222122.10

Conserved Domains (1) summary

cd14695
Location:254 → 313

bZIP_HLF; Basic leucine zipper (bZIP) domain of Hepatic leukemia factor (HLF) and similar proteins: a DNA-binding and dimerization domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p13 Primary Assembly

Range

48630030..48637379 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017026388.2 → XP_016881877.1 D site-binding protein isoform X1

Conserved Domains (1) summary

cd14695
Location:111 → 170

bZIP_HLF; Basic leucine zipper (bZIP) domain of Hepatic leukemia factor (HLF) and similar proteins: a DNA-binding and dimerization domain