DNMBP dynamin binding protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNMBPprovided by HGNC
Official Full Name: dynamin binding proteinprovided by HGNC
Primary source: HGNC:HGNC:30373
See related: Ensembl:ENSG00000107554 MIM:611282; AllianceGenome:HGNC:30373
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: TUBA; CTRCT48; ARHGEF36
Summary: This gene encodes a protein belonging to the guanine nucleotide exchange factor family, and which regulates the configuration of cell junctions. It contains multiple binding sites for dynamin and thus links dynamin to actin regulatory proteins. Polymorphisms in this gene have been linked to Alzheimer's disease in some populations, though there are conflicting reports of such linkages in other populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Expression: Ubiquitous expression in small intestine (RPKM 10.7), duodenum (RPKM 8.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q24.2

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (99875571..100009947, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (100759305..100893694, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (101635328..101769704, complement)

Chromosome 10 - NC_000010.11 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?

Autophagic degradation of KAT2A/GCN5 promotes directional migration of vascular smooth muscle cells by reducing TUBA/alpha-tubulin acetylation.
Title: Autophagic degradation of KAT2A/GCN5 promotes directional migration of vascular smooth muscle cells by reducing TUBA/α-tubulin acetylation.
DNMBP loss-of-function variants cause infantile-onset cataracts in humans.
Title: Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.
The rs3740058 in DNMBP was significantly differently in genotype between Alaheimer diease and control in APOE epsilon4epsilon4 subgroup, but showed no effect on Alzheimer disease risk, either did rs11190305 polymorphisms in DNMBP.
Title: Genetic association of CUGBP2 and DNMBP with Alzheimer' s disease in the Chinese Han population.
Cdc42 and its specific guanine nucleotide-exchange factor (GEF), Tuba, localize to linear invadosomes, and both are required for linear invadosome formation
Title: Discoidin domain receptor 1 controls linear invadosome formation via a Cdc42-Tuba pathway.
Polyproline region of N-WASP is required for the localization of Tuba at the pre-apical patch.
Title: Tuba and N-WASP function cooperatively to position the central lumen during epithelial cyst morphogenesis.
findings underscore a role for DNMBP in the genetic risk for late-onset Alzheimer's disease in the Belgian population
Title: DNMBP is genetically associated with Alzheimer dementia in the Belgian population.
Although DNMBP is an excellent candidate gene because of its role in the APP recycling pathways and being located within a chromosome 10 linkage region, we are unable to confirm that DNMBP is associated with LOAD
Title: Association analysis of dynamin-binding protein (DNMBP) on chromosome 10q with late onset Alzheimer's disease in a large caucasian UK sample.
We observed no association of statistical significance in either the total sample or the APOE*4 non-carriers for any of the SNPs of Dynamin Binding Protein.
Title: No association of dynamin binding protein (DNMBP) gene SNPs and Alzheimer's disease.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association analysis of dynamin-binding protein (DNMBP) on chromosome 10q with late onset Alzheimer's disease in a large caucasian UK sample.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: DNMBP is genetically associated with Alzheimer dementia in the Belgian population.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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

Associated conditions

Description	Tests
Cataract 48 MedGen: C5193082 OMIM: 618415 GeneReviews: Not available	Compare labs

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

G17439 (e-PCR)
- UniSTS:1329

SHGC-17231 (e-PCR)
- UniSTS:26185

G17409 (e-PCR)
- UniSTS:73105

RH93813 (e-PCR)
- UniSTS:84377

SHGC-142082 (e-PCR)
- UniSTS:171237

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables guanyl-nucleotide exchange factor activity	IDA Inferred from Direct Assay more info	PubMed
enables guanyl-nucleotide exchange factor activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell shape	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info
located_in Golgi stack	IEA Inferred from Electronic Annotation more info
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
located_in presynapse	ISS Inferred from Sequence or Structural Similarity more info
located_in synapse	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: dynamin-binding protein

Names: scaffold protein TUBA

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_001318326.2 → NP_001305255.1 dynamin-binding protein isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks four 5' exons but instead contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and initiates translation from an alternate start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.

Source sequence(s)

AB023227, AI023943, AK128576, AL627434

Consensus CDS

CCDS81495.1

UniProtKB/TrEMBL

A0A1B0GTX1

Related

ENSP00000489875.1, ENST00000636706.1

Conserved Domains (4) summary

cd07589
Location:649 → 840

BAR_DNMBP; The Bin/Amphiphysin/Rvs (BAR) domain of Dynamin Binding Protein

cd11798
Location:921 → 977

SH3_DNMBP_C1; First C-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba

cd12141
Location:1149 → 1205

SH3_DNMBP_C2; Second C-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba, and similar domains

pfam00621
Location:420 → 598

RhoGEF; RhoGEF domain
NM_001318327.1 → NP_001305256.1 dynamin-binding protein isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks four 5' exons but instead contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and initiates translation from an alternate start codon, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.

Source sequence(s)

AA194064, AB023227, AI023943, BC041628, BX501583

Consensus CDS

CCDS81494.1

UniProtKB/TrEMBL

A0A1C7CYY6, B3KY33

Related

ENSP00000443657.2, ENST00000543621.6

Conserved Domains (4) summary

cd07589
Location:305 → 496

BAR_DNMBP; The Bin/Amphiphysin/Rvs (BAR) domain of Dynamin Binding Protein

cd11798
Location:577 → 633

SH3_DNMBP_C1; First C-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba

cd12141
Location:805 → 861

SH3_DNMBP_C2; Second C-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba, and similar domains

pfam00621
Location:76 → 254

RhoGEF; RhoGEF domain
NM_015221.4 → NP_056036.1 dynamin-binding protein isoform a

See identical proteins and their annotated locations for NP_056036.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AB023227, AI023943, AL833283, DB481528

Consensus CDS

CCDS7485.1

UniProtKB/Swiss-Prot

Q6XZF7, Q8IVY3, Q9Y2L3

UniProtKB/TrEMBL

A0A2X0U4N6

Related

ENSP00000315659.4, ENST00000324109.9

Conserved Domains (8) summary

cd07589
Location:1017 → 1208

BAR_DNMBP; The Bin/Amphiphysin/Rvs (BAR) domain of Dynamin Binding Protein

cd11794
Location:6 → 56

SH3_DNMBP_N1; First N-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba

cd11795
Location:70 → 123

SH3_DNMBP_N2; Second N-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba

cd11796
Location:149 → 199

SH3_DNMBP_N3; Third N-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba

cd11797
Location:247 → 296

SH3_DNMBP_N4; Fourth N-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba

cd11798
Location:1289 → 1345

SH3_DNMBP_C1; First C-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba

cd12141
Location:1517 → 1573

SH3_DNMBP_C2; Second C-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba, and similar domains

pfam00621
Location:788 → 966

RhoGEF; RhoGEF domain

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_000010.11 Reference GRCh38.p14 Primary Assembly

Range

99875571..100009947 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011539559.3 → XP_011537861.1 dynamin-binding protein isoform X1

See identical proteins and their annotated locations for XP_011537861.1

UniProtKB/Swiss-Prot

Q6XZF7, Q8IVY3, Q9Y2L3

UniProtKB/TrEMBL

A0A2X0U4N6

Conserved Domains (8) summary

cd07589
Location:1017 → 1208

BAR_DNMBP; The Bin/Amphiphysin/Rvs (BAR) domain of Dynamin Binding Protein

cd11794
Location:6 → 56

SH3_DNMBP_N1; First N-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba

cd11795
Location:70 → 123

SH3_DNMBP_N2; Second N-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba

cd11796
Location:149 → 199

SH3_DNMBP_N3; Third N-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba

cd11797
Location:247 → 296

SH3_DNMBP_N4; Fourth N-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba

cd11798
Location:1289 → 1345

SH3_DNMBP_C1; First C-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba

cd12141
Location:1517 → 1573

SH3_DNMBP_C2; Second C-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba, and similar domains

pfam00621
Location:788 → 966

RhoGEF; RhoGEF domain
XM_047424910.1 → XP_047280866.1 dynamin-binding protein isoform X1

UniProtKB/Swiss-Prot

Q6XZF7, Q8IVY3, Q9Y2L3