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DNMBP dynamin binding protein [ Homo sapiens (human) ]

Gene ID: 23268, updated on 20-Dec-2019

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
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

Genomic context

See DNMBP in Genome Data Viewer
Location:
10q24.2
Exon count:
20
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (99875571..100009948, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (101635334..101769676, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ABCC2 intron CAGE-defined mid-level expression enhancer Neighboring gene Nanog homeobox pseudogene 6 Neighboring gene ATP binding cassette subfamily C member 2 Neighboring gene DNMBP antisense RNA 1 Neighboring gene MT-ATP8 pseudogene 4 Neighboring gene carboxypeptidase N subunit 1 Neighboring gene cytochrome P450 family 2 subfamily C member 23, pseudogene Neighboring gene tropomyosin 4 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1010

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rho guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Rho guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
aging IEA
Inferred from Electronic Annotation
more info
 
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
regulation of Rho protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
regulation of cell shape IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
 
Golgi stack IEA
Inferred from Electronic Annotation
more info
 
cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
presynapse ISS
Inferred from Sequence or Structural Similarity
more info
 
synapse ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
dynamin-binding protein
Names
scaffold protein TUBA

NCBI Reference Sequences (RefSeq)

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_001318326.2NP_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/Swiss-Prot
    Q6XZF7
    UniProtKB/TrEMBL
    A0A1B0GTX1, B3KY33
    Related
    ENSP00000489875.1, ENST00000636706.1
    Conserved Domains (4) summary
    cd07589
    Location:649840
    BAR_DNMBP; The Bin/Amphiphysin/Rvs (BAR) domain of Dynamin Binding Protein
    cd11798
    Location:921977
    SH3_DNMBP_C1; First C-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba
    cd12141
    Location:11491205
    SH3_DNMBP_C2; Second C-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba, and similar domains
    pfam00621
    Location:420598
    RhoGEF; RhoGEF domain
  2. NM_001318327.1NP_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/Swiss-Prot
    Q6XZF7
    UniProtKB/TrEMBL
    A0A1C7CYY6
    Related
    ENSP00000443657.2, ENST00000543621.6
    Conserved Domains (4) summary
    cd07589
    Location:305496
    BAR_DNMBP; The Bin/Amphiphysin/Rvs (BAR) domain of Dynamin Binding Protein
    cd11798
    Location:577633
    SH3_DNMBP_C1; First C-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba
    cd12141
    Location:805861
    SH3_DNMBP_C2; Second C-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba, and similar domains
    pfam00621
    Location:76254
    RhoGEF; RhoGEF domain
  3. NM_015221.4NP_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
    Related
    ENSP00000315659.4, ENST00000324109.9
    Conserved Domains (8) summary
    cd07589
    Location:10171208
    BAR_DNMBP; The Bin/Amphiphysin/Rvs (BAR) domain of Dynamin Binding Protein
    cd11794
    Location:656
    SH3_DNMBP_N1; First N-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba
    cd11795
    Location:70123
    SH3_DNMBP_N2; Second N-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba
    cd11796
    Location:149199
    SH3_DNMBP_N3; Third N-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba
    cd11797
    Location:247296
    SH3_DNMBP_N4; Fourth N-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba
    cd11798
    Location:12891345
    SH3_DNMBP_C1; First C-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba
    cd12141
    Location:15171573
    SH3_DNMBP_C2; Second C-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba, and similar domains
    pfam00621
    Location:788966
    RhoGEF; RhoGEF domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    99875571..100009948 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011539559.2XP_011537861.1  dynamin-binding protein isoform X1

    See identical proteins and their annotated locations for XP_011537861.1

    UniProtKB/Swiss-Prot
    Q6XZF7
    Conserved Domains (8) summary
    cd07589
    Location:10171208
    BAR_DNMBP; The Bin/Amphiphysin/Rvs (BAR) domain of Dynamin Binding Protein
    cd11794
    Location:656
    SH3_DNMBP_N1; First N-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba
    cd11795
    Location:70123
    SH3_DNMBP_N2; Second N-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba
    cd11796
    Location:149199
    SH3_DNMBP_N3; Third N-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba
    cd11797
    Location:247296
    SH3_DNMBP_N4; Fourth N-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba
    cd11798
    Location:12891345
    SH3_DNMBP_C1; First C-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba
    cd12141
    Location:15171573
    SH3_DNMBP_C2; Second C-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba, and similar domains
    pfam00621
    Location:788966
    RhoGEF; RhoGEF domain
  2. XM_006717735.3XP_006717798.1  dynamin-binding protein isoform X2

    Conserved Domains (8) summary
    cd07589
    Location:10171165
    BAR_DNMBP; The Bin/Amphiphysin/Rvs (BAR) domain of Dynamin Binding Protein
    cd11794
    Location:656
    SH3_DNMBP_N1; First N-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba
    cd11795
    Location:70123
    SH3_DNMBP_N2; Second N-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba
    cd11796
    Location:149199
    SH3_DNMBP_N3; Third N-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba
    cd11797
    Location:247296
    SH3_DNMBP_N4; Fourth N-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba
    cd11798
    Location:12461302
    SH3_DNMBP_C1; First C-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba
    cd12141
    Location:14741530
    SH3_DNMBP_C2; Second C-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba, and similar domains
    pfam00621
    Location:788966
    RhoGEF; RhoGEF domain
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