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DNMBP dynamin binding protein [ Homo sapiens (human) ]

Gene ID: 23268, updated on 26-May-2016
Official Symbol
DNMBPprovided by HGNC
Official Full Name
dynamin binding proteinprovided by HGNC
Primary source
HGNC:HGNC:30373
See related
Ensembl:ENSG00000107554 HPRD:10918; MIM:611282; Vega:OTTHUMG00000018897
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; 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]
Orthologs
Location:
10q24.2
Exon count:
19
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 10 NC_000010.11 (99875576..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 COX15 cytochrome c oxidase assembly homolog Neighboring gene cutC copper transporter Neighboring gene Nanog homeobox pseudogene 6 Neighboring gene ATP binding cassette subfamily C member 2 Neighboring gene DNMBP antisense RNA 1 Neighboring gene carboxypeptidase N subunit 1 Neighboring gene uncharacterized LOC105378451

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA1010

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rho guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of Rho protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi stack IEA
Inferred from Electronic Annotation
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
synapse IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
dynamin-binding protein
Names
scaffold protein TUBA

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_001318326.1NP_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)
    AA194064, AB023227, AI023943, AK128576, AL627434
    UniProtKB/Swiss-Prot
    Q6XZF7
    UniProtKB/TrEMBL
    B3KY33
    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
    cd00160
    Location:417597
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
  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
    UniProtKB/Swiss-Prot
    Q6XZF7
    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
    cd00160
    Location:73253
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
  3. NM_015221.3NP_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)
    AA194064, AB023227, AI023943, AL833283, DB481528
    Consensus CDS
    CCDS7485.1
    UniProtKB/Swiss-Prot
    Q6XZF7
    Related
    ENSP00000315659, OTTHUMP00000020271, ENST00000324109, OTTHUMT00000049832
    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
    cd00160
    Location:785965
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p2 Primary Assembly

    Range
    99875576..100009948 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006717735.2XP_006717798.1  

    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
    cd00160
    Location:785965
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
  2. XM_011539559.1XP_011537861.1  

    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
    cd00160
    Location:785965
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
  3. XM_011539560.1XP_011537862.1  

    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
    cd00160
    Location:417597
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
  4. XM_006717736.2XP_006717799.1  

    Conserved Domains (5) summary
    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
    cd00160
    Location:785965
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cl17036
    Location:247296
    SH3; Src Homology 3 domain superfamily

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 Alternate CHM1_1.1

    Range
    101918170..102052972 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)