DNMBP
entrez
23268
canonical
uniprot
Q6XZF7
canonical
ensembl
ENSG00000107554
resolver
ensp
ENSP00000315659
resolver
ensp
ENSP00000443657
resolver
ensp
ENSP00000489875
resolver
ensp
ENSP00000527023
resolver
ensp
ENSP00000527024
resolver
enst
ENST00000543621
resolver
enst
ENST00000636706
resolver
genesymbol
DNMBP
resolver
genesymbol_syn
ARHGEF36
resolver
genesymbol_syn
KIAA1010
resolver
genesymbol_syn
TUBA
resolver
hgnc
HGNC:30373
resolver
uniprot
A0A1B0GTX1
resolver
uniprot
A0A1C7CYY6
resolver
uniprot
B3KY33
resolver
uniprot
B4E0Q3
resolver
uniprot
Q8IVY3
resolver
uniprot
Q9Y2L3
resolver
uniprot_entry
A0A1B0GTX1_HUMAN
resolver
uniprot_entry
A0A1C7CYY6_HUMAN
resolver
uniprot_entry
B3KY33_HUMAN
resolver
uniprot_entry
B4E0Q3_HUMAN
resolver
uniprot_entry
DNMBP_HUMAN
resolver
uniprot_sec
Q8IVY3
resolver
uniprot_sec
Q9Y2L3
resolver
amino_acid_sequence
MEAGSVVRAIFDFCPSVSEELPLFVGDIIEVLAVVDEFWLLGKKEDVTGQFPSSFVEIVTIPSLKEGERLFVCICEFTSQELDNLPLHRGDLVILDGIPTAGWLQGRSCWGARGFFPSSCVRELCLSSQSRQWHSQSALFQIPEYSMGQARALMGLSAQLDEELDFREGDVITIIGVPEPGWFEGELEGRRGIFPEGFVELLGPLRTVDESVSSGNQDDCIVNGEVDTPVGEEEIGPDEDEEEPGTYGVALYRFQALEPNELDFEVGDKIRILATLEDGWLEGSLKGRTGIFPYRFVKLCPDTRVEETMALPQEGSLARIPETSLDCLENTLGVEEQRHETSDHEAEEPDCIISEAPTSPLGHLTSEYDTDRNSYQDEDTAGGPPRSPGVEWEMPLATDSPTSDPTEVVNGISSQPQVPFHPNLQKSQYYSTVGGSHPHSEQYPDLLPLEARTRDYASLPPKRMYSQLKTLQKPVLPLYRGSSVSASRVVKPRQSSPQLHNLASYTKKHHTSSVYSISERLEMKPGPQAQGLVMEAATHSQGDGSTDLDSKLTQQLIEFEKSLAGPGTEPDKILRHFSIMDFNSEKDIVRGSSKLITEQELPERRKALRPPPPRPCTPVSTSPHLLVDQNLKPAPPLVVRPSRPAPLPPSAQQRTNAVSPKLLSRHRPTCETLEKEGPGHMGRSLDQTSPCPLVLVRIEEMERDLDMYSRAQEELNLMLEEKQDESSRAETLEDLKFCESNIESLNMELQQLREMTLLSSQSSSLVAPSGSVSAENPEQRMLEKRAKVIEELLQTERDYIRDLEMCIERIMVPMQQAQVPNIDFEGLFGNMQMVIKVSKQLLAALEISDAVGPVFLGHRDELEGTYKIYCQNHDEAIALLEIYEKDEKIQKHLQDSLADLKSLYNEWGCTNYINLGSFLIKPVQRVMRYPLLLMELLNSTPESHPDKVPLTNAVLAVKEINVNINEYKRRKDLVLKYRKGDEDSLMEKISKLNIHSIIKKSNRVSSHLKHLTGFAPQIKDEVFEETEKNFRMQERLIKSFIRDLSLYLQHIRESACVKVVAAVSMWDVCMERGHRDLEQFERVHRYISDQLFTNFKERTERLVISPLNQLLSMFTGPHKLVQKRFDKLLDFYNCTERAEKLKDKKTLEELQSARNNYEALNAQLLDELPKFHQYAQGLFTNCVHGYAEAHCDFVHQALEQLKPLLSLLKVAGREGNLIAIFHEEHSRVLQQLQVFTFFPESLPATKKPFERKTIDRQSARKPLLGLPSYMLQSEELRASLLARYPPEKLFQAERNFNAAQDLDVSLLEGDLVGVIKKKDPMGSQNRWLIDNGVTKGFVYSSFLKPYNPRRSHSDASVGSHSSTESEHGSSSPRFPRQNSGSTLTFNPSSMAVSFTSGSCQKQPQDASPPPKECDQGTLSASLNPSNSESSPSRCPSDPDSTSQPRSGDSADVARDVKQPTATPRSYRNFRHPEIVGYSVPGRNGQSQDLVKGCARTAQAPEDRSTEPDGSEAEGNQVYFAVYTFKARNPNELSVSANQKLKILEFKDVTGNTEWWLAEVNGKKGYVPSNYIRKTEYT
uniprot
proteins
disease_involvement
DISEASE: Cataract 48 (CTRCT48) [MIM:618415]: A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT48 is an autosomal recessive form characterized by infantile or early-childhood onset. {ECO:0000269|PubMed:30290152}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a critical role as a guanine nucleotide exchange factor (GEF) for CDC42 in several intracellular processes associated with the actin and microtubule cytoskeleton. Regulates the structure of apical junctions through F-actin organization in epithelial cells (PubMed:17015620, PubMed:19767742). Participates in the normal lumenogenesis of epithelial cell cysts by regulating spindle orientation (PubMed:20479467). Plays a role in ciliogenesis (By similarity). May play a role in membrane trafficking between the cell surface and the Golgi (By similarity). {ECO:0000250|UniProtKB:E2RP94, ECO:0000250|UniProtKB:Q6TXD4, ECO:0000269|PubMed:17015620, ECO:0000269|PubMed:19767742, ECO:0000269|PubMed:20479467}.
uniprot
proteins
mass_dalton
177347
uniprot
proteins
mutagenesis
MUTAGEN 1521; /note="V->R: Decreased interaction of SH3 domain 6 with L.monocytogenes InlC."; /evidence="ECO:0000269|PubMed:24332715"; MUTAGEN 1529; /note="P->A: Wild-type interaction of SH3 domain 6 with L.monocytogenes InlC."; /evidence="ECO:0000269|PubMed:24332715"; MUTAGEN 1569; /note="N->R: Decreased interaction of SH3 domain 6 with L.monocytogenes InlC."; /evidence="ECO:0000269|PubMed:24332715
uniprot
proteins
pubmed
10231032
uniprot
proteins
pubmed
14506234
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17015620
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19767742
uniprot
proteins
pubmed
19807924
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20479467
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24332715
uniprot
proteins
pubmed
30290152
uniprot
proteins
sequence_length
1577
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17015620}. Golgi apparatus, Golgi stack {ECO:0000250|UniProtKB:Q6TXD4}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q6TXD4}. Synapse {ECO:0000250|UniProtKB:M0R4F8}. Cell junction {ECO:0000269|PubMed:17015620}. Note=Localizes to the apical junction, colocalizes with TJP1. {ECO:0000269|PubMed:17015620}.
uniprot
proteins