DBN1 drebrin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DBN1provided by HGNC
Official Full Name: drebrin 1provided by HGNC
Primary source: HGNC:HGNC:2695
See related: Ensembl:ENSG00000113758 MIM:126660; AllianceGenome:HGNC:2695
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: D0S117E
Summary: The protein encoded by this gene is a cytoplasmic actin-binding protein thought to play a role in the process of neuronal growth. It is a member of the drebrin family of proteins that are developmentally regulated in the brain. A decrease in the amount of this protein in the brain has been implicated as a possible contributing factor in the pathogenesis of memory disturbance in Alzheimer's disease. At least two alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in endometrium (RPKM 21.1), brain (RPKM 16.5) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q35.3

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (177456610..177473634, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (177999656..178023769, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (176883611..176900635, complement)

Chromosome 5 - NC_000005.10 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?

The well-developed actin cytoskeleton and Cthrc1 expression by actin-binding protein drebrin in myofibroblasts promote cardiac and hepatic fibrosis.
Title: The well-developed actin cytoskeleton and Cthrc1 expression by actin-binding protein drebrin in myofibroblasts promote cardiac and hepatic fibrosis.
Drebrin promotes lung adenocarcinoma cell migration through inducing integrin beta1 endocytosis.
Title: Drebrin promotes lung adenocarcinoma cell migration through inducing integrin β1 endocytosis.
Effects of neuronal drebrin on actin dynamics.
Title: Effects of neuronal drebrin on actin dynamics.
Physical interaction between BAALC and DBN1 induces chemoresistance in leukemia.
Title: Physical interaction between BAALC and DBN1 induces chemoresistance in leukemia.
Drebrin expression patterns in patients with refractory temporal lobe epilepsy and hippocampal sclerosis.
Title: Drebrin expression patterns in patients with refractory temporal lobe epilepsy and hippocampal sclerosis.
TFAP2A Induced ITPKA Serves as an Oncogene and Interacts with DBN1 in Lung Adenocarcinoma.
Title: TFAP2A Induced ITPKA Serves as an Oncogene and Interacts with DBN1 in Lung Adenocarcinoma.
we show that drebrin and hCDC14A regulate the recruitment of the actin organizer Arp2 to centrosomes. In addition, during ciliogenesis hCDC14A also regulates endocytosis and targeting of myosin Va vesicles to the basal body in a drebrin-independent manner, indicating that it impacts primary cilia formation in a multilayered manner.
Title: The human phosphatase CDC14A modulates primary cilium length by regulating centrosomal actin nucleation.
Study results showed that the vincristine resistant colon cancer cell line has reduced DBN1 expression which may be related to changes in the drug-target sites.
Title: Downregulation of DBN1 is related to vincristine resistance in colon cancer cells.
Drebrin may regulate activities of epigenetic reader ZMYND8 via its cytoplasmic sequestration.
Title: The Structure of the ZMYND8/Drebrin Complex Suggests a Cytoplasmic Sequestering Mechanism of ZMYND8 by Drebrin.
Inhibition of cortactin or dynamin-2 abrogated the increased virus entry observed in DBN1-deficient cells, suggesting that DBN1 suppresses dynamin-mediated endocytosis via interaction with cortactin.
Title: Drebrin restricts rotavirus entry by inhibiting dynamin-mediated endocytosis.

Submit: New GeneRIF Correction See all GeneRIFs (39)

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

EBI GWAS Catalog

Description
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	Overexpression of the N-terminal region of drebrin inhibits HIV-1 Env-induced membrane fusion. Downregulation of drebrin expression by siRNA increases HIV-1 syncytia formation and viral entry	PubMed
	env	Drebrin interacts and co-localizes with CD4 and CXCR4 during HIV-1 infection of CD4+ T cells in an Env-dependent manner	PubMed
	env	Accumulation of drebrin at Env-induced capping areas and Env-induced cellular contacts, but not at unspecific cell to cell contacts, illustrates the specificity of drebrin recruiment by HIV-1 Env	PubMed
Pr55(Gag)	gag	HIV-1 Gag co-localizes with drebrin in HIV-1-infected CD4+ T cells	PubMed
Tat	tat	Drebrin 1 (DBN1) is identified to interact with HIV-1 Tat mutant Nullbasic in HeLa cells by LC MS/MS	PubMed
	tat	Expression of HIV-1 Tat downregulates the abundance of drebrin 1 (DBN1) in the nucleoli of Jurkat T-cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A002E15 (e-PCR)
- UniSTS:57101

PMC343817P1 (e-PCR)
- UniSTS:273197

DBN1__4671 (e-PCR)
- UniSTS:463252

MARC_1067-1068:991929590:7 (e-PCR)
- UniSTS:230841

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	NAS Non-traceable Author Statement more info	PubMed
enables cadherin binding	HDA more info	PubMed
enables profilin binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell communication by chemical coupling	IEA Inferred from Electronic Annotation more info
involved_in cell communication by electrical coupling	IEA Inferred from Electronic Annotation more info
involved_in cytoplasmic sequestering of protein	IBA Inferred from Biological aspect of Ancestor more info
involved_in cytoplasmic sequestering of protein	IDA Inferred from Direct Assay more info	PubMed
involved_in generation of neurons	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in maintenance of protein location in cell	IEA Inferred from Electronic Annotation more info
involved_in neural precursor cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of dendritic spine morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of receptor localization to synapse	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of synaptic plasticity	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of dendrite development	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of neuronal synaptic plasticity	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in actin cytoskeleton	ISS Inferred from Sequence or Structural Similarity more info
located_in actomyosin	NAS Non-traceable Author Statement more info	PubMed
located_in cortical cytoskeleton	TAS Traceable Author Statement more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed
is_active_in cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	NAS Non-traceable Author Statement more info	PubMed
located_in gap junction	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in growth cone	ISS Inferred from Sequence or Structural Similarity more info
located_in postsynaptic cytosol	IEA Inferred from Electronic Annotation more info
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: drebrin

Names: developmentally-regulated brain protein; drebrin A; drebrin E; drebrin E2

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_001363541.2 → NP_001350470.2 drebrin isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate in-frame exon compared to variant 1. The resulting isoform (c) has the same N- and C-termini and is longer compared to isoform a.

Source sequence(s)

AC145098

Consensus CDS

CCDS87354.1

UniProtKB/TrEMBL

A0A2Z6ATB6

Related

ENSP00000377195.1, ENST00000393565.6

Conserved Domains (2) summary

cd11281
Location:4 → 139

ADF_drebrin_like; ADF homology domain of drebrin and actin-binding protein 1 (abp1)

PHA03247
Location:277 → 606

PHA03247; large tegument protein UL36; Provisional
NM_001364151.2 → NP_001351080.2 drebrin isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate in-frame splice junction and contains an alternate in-frame exon compared to variant 1. The resulting isoform (d) has the same N- and C-termini and is longer compared to isoform a. Variant 4 encodes the longest isoform (d).

Source sequence(s)

AC145098

UniProtKB/TrEMBL

A0A2Z6ATB6

Conserved Domains (2) summary

cd11281
Location:4 → 138

ADF_drebrin_like; ADF homology domain of drebrin and actin-binding protein 1 (abp1)

PHA03247
Location:276 → 605

PHA03247; large tegument protein UL36; Provisional
NM_001364152.2 → NP_001351081.2 drebrin isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (e) is shorter at the N-terminus compared to isoform a.

Source sequence(s)

AC145098

UniProtKB/TrEMBL

B7Z2Z0
NM_001393630.1 → NP_001380559.1 drebrin isoform f

Status: REVIEWED

Source sequence(s)

AC145098

UniProtKB/TrEMBL

A0A2Z6ATB6

Conserved Domains (1) summary

cd11281
Location:32 → 141

ADF_drebrin_like; ADF homology domain of drebrin and actin-binding protein 1 (abp1)
NM_001393631.1 → NP_001380560.1 drebrin isoform g

Status: REVIEWED

Source sequence(s)

AC145098

UniProtKB/TrEMBL

A0A2Z6ATB6

Conserved Domains (1) summary

cl15697
Location:1 → 76

ADF_gelsolin; Actin depolymerization factor/cofilin- and gelsolin-like domains
NM_004395.4 → NP_004386.3 drebrin isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the predominant isoform (a).

Source sequence(s)

AC145098

Consensus CDS

CCDS4420.1

UniProtKB/Swiss-Prot

A8MV58, B2RBG0, Q16643, Q9UFZ5

UniProtKB/TrEMBL

A0A2Z6ATB6

Related

ENSP00000308532.5, ENST00000309007.9

Conserved Domains (2) summary

cd11281
Location:4 → 139

ADF_drebrin_like; ADF homology domain of drebrin and actin-binding protein 1 (abp1)

PHA03247
Location:277 → 565

PHA03247; large tegument protein UL36; Provisional
NM_080881.3 → NP_543157.2 drebrin isoform b

Status: REVIEWED

Source sequence(s)

AC145098

Consensus CDS

CCDS4421.1

UniProtKB/TrEMBL

A0A2Z6ATB6

Related

ENSP00000292385.5, ENST00000292385.9

Conserved Domains (2) summary

cd11281
Location:32 → 141

ADF_drebrin_like; ADF homology domain of drebrin and actin-binding protein 1 (abp1)

PHA03247
Location:279 → 567

PHA03247; large tegument protein UL36; Provisional

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

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

177456610..177473634 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047416833.1 → XP_047272789.1 drebrin isoform X2

UniProtKB/TrEMBL

B3KSQ7
XM_017009139.2 → XP_016864628.1 drebrin isoform X1

UniProtKB/TrEMBL

A0A2Z6ATB6

Conserved Domains (1) summary

cd11281
Location:32 → 141

ADF_drebrin_like; ADF homology domain of drebrin and actin-binding protein 1 (abp1)