DVL1
entrez
1855
canonical
uniprot
O14640
canonical
ensembl
ENSG00000107404
resolver
ensp
ENSP00000368166
resolver
ensp
ENSP00000368169
resolver
ensp
ENSP00000701556
resolver
ensp
ENSP00000701559
resolver
genesymbol
DVL1
resolver
hgnc
HGNC:3084
resolver
uniprot
Q5TA33
resolver
uniprot
Q5TA35
resolver
uniprot_entry
DVL1_HUMAN
resolver
uniprot_sec
Q5TA33
resolver
uniprot_sec
Q5TA35
resolver
amino_acid_sequence
MAETKIIYHMDEEETPYLVKLPVAPERVTLADFKNVLSNRPVHAYKFFFKSMDQDFGVVKEEIFDDNAKLPCFNGRVVSWLVLAEGAHSDAGSQGTDSHTDLPPPLERTGGIGDSRPPSFHPNVASSRDGMDNETGTESMVSHRRERARRRNREEAARTNGHPRGDRRRDVGLPPDSASTALSSELESSSFVDSDEDGSTSRLSSSTEQSTSSRLIRKHKRRRRKQRLRQADRASSFSSITDSTMSLNIVTVTLNMERHHFLGISIVGQSNDRGDGGIYIGSIMKGGAVAADGRIEPGDMLLQVNDVNFENMSNDDAVRVLREIVSQTGPISLTVAKCWDPTPRSYFTVPRADPVRPIDPAAWLSHTAALTGALPRYGTSPCSSAVTRTSSSSLTSSVPGAPQLEEAPLTVKSDMSAVVRVMQLPDSGLEIRDRMWLKITIANAVIGADVVDWLYTHVEGFKERREARKYASSLLKHGFLRHTVNKITFSEQCYYVFGDLCSNLATLNLNSGSSGTSDQDTLAPLPHPAAPWPLGQGYPYQYPGPPPCFPPAYQDPGFSYGSGSTGSQQSEGSKSSGSTRSSRRAPGREKERRAAGAGGSGSESDHTAPSGVGSSWRERPAGQLSRGSSPRSQASATAPGLPPPHPTTKAYTVVGGPPGGPPVRELAAVPPELTGSRQSFQKAMGNPCEFFVDIM
uniprot
proteins
disease_involvement
DISEASE: Robinow syndrome, autosomal dominant 2 (DRS2) [MIM:616331]: A rare skeletal dysplasia syndrome characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, costovertebral segmentation defects, and renal anomalies. {ECO:0000269|PubMed:25817014, ECO:0000269|PubMed:25817016}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Required for LEF1 activation upon WNT1 and WNT3A signaling. DVL1 and PAK1 form a ternary complex with MUSK which is important for MUSK-dependent regulation of AChR clustering during the formation of the neuromuscular junction (NMJ).
uniprot
proteins
mass_dalton
75187
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated; undergoes both 'Lys-48'-linked ubiquitination, leading to its subsequent degradation by the ubiquitin-proteasome pathway, and 'Lys-63'-linked ubiquitination. The interaction with INVS is required for ubiquitination. Deubiquitinated by CYLD, which acts on 'Lys-63'-linked ubiquitin chains (By similarity). {ECO:0000250}.
uniprot
proteins
protein_family
DSH family
uniprot
proteins
pubmed
11742073
uniprot
proteins
pubmed
14750955
uniprot
proteins
pubmed
15454084
uniprot
proteins
pubmed
15852005
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
21044957
uniprot
proteins
pubmed
25557784
uniprot
proteins
pubmed
25805136
uniprot
proteins
pubmed
25817014
uniprot
proteins
pubmed
25817016
uniprot
proteins
pubmed
26126266
uniprot
proteins
pubmed
27214281
uniprot
proteins
pubmed
9192851
uniprot
proteins
sequence_length
695
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cytoplasm, cytosol {ECO:0000250}. Cytoplasmic vesicle {ECO:0000250}. Note=Localizes at the cell membrane upon interaction with frizzled family members. {ECO:0000250}.
uniprot
proteins