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DNMBP dynamin binding protein [ Homo sapiens (human) ]

Gene ID: 23268, updated on 3-Apr-2024

Summary

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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
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Genomic context

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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_000010.11Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak1067 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2698 Neighboring gene cutC copper transporter Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:101544125-101545324 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:101545341-101545842 Neighboring gene Nanog homeobox pseudogene 6 Neighboring gene ATP binding cassette subfamily C member 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:101589748-101590947 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:101593724-101594923 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:101609623-101610303 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3873 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:101650885-101651744 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:101665689-101666888 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:101673033-101673655 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:101673656-101674278 Neighboring gene DNMBP antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:101716073-101716720 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:101716721-101717367 Neighboring gene uncharacterized LOC124902490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3874 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3877 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2699 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3878 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3879 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2700 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:101804113-101804939 Neighboring gene MT-ATP8 pseudogene 4 Neighboring gene carboxypeptidase N subunit 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. No association of dynamin binding protein (DNMBP) gene SNPs and Alzheimer's disease. Minster RL, et al. Neurobiol Aging, 2008 Oct. PMID 17442457, Free PMC Article
  2. Autophagic degradation of KAT2A/GCN5 promotes directional migration of vascular smooth muscle cells by reducing TUBA/α-tubulin acetylation. Ouyang C, et al. Autophagy, 2020 Oct. PMID 31878840, Free PMC Article
  3. The proline-rich region of glyceraldehyde-3-phosphate dehydrogenase from human sperm may bind SH3 domains, as revealed by a bioinformatic study of low-complexity protein segments. Tatjewski M, et al. Mol Reprod Dev, 2016 Feb. PMID 26660717
  4. Genetic association of CUGBP2 and DNMBP with Alzheimer' s disease in the Chinese Han population. Yang P, et al. Curr Alzheimer Res, 2015. PMID 25801238
  5. Tuba and N-WASP function cooperatively to position the central lumen during epithelial cyst morphogenesis. Kovacs EM, et al. Cell Adh Migr, 2011 Jul-Aug. PMID 21677511, Free PMC Article

See all (56) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. DNMBP loss-of-function variants cause infantile-onset cataracts in humans.
    Title: Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1010

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)

  1. 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

  2. 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

  3. 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

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    99875571..100009947 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. XM_047424910.1 → XP_047280866.1  dynamin-binding protein isoform X1

    UniProtKB/Swiss-Prot
    Q6XZF7, Q8IVY3, Q9Y2L3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    100759305..100893694 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054365349.1 → XP_054221324.1  dynamin-binding protein isoform X1

  2. XM_054365350.1 → XP_054221325.1  dynamin-binding protein isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6XZF7.1 GenPept UniProtKB/Swiss-Prot:Q6XZF7

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