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DVL1
HPA
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  • DVL1
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

DVL1
Synonyms
Gene descriptioni

Full gene name according to HGNC.

Dishevelled segment polarity protein 1
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Human disease related genes
Plasma proteins
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 1
Cytoband p36.33
Chromosome location (bp) 1335276 - 1349418
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

4
Ensembl ENSG00000107404 (version 109)
Entrez gene 1855
HGNC HGNC:3084
UniProt O14640 (UniProt - Evidence at protein level)
neXtProt NX_O14640
GeneCards DVL1
Antibodypedia DVL1 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

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).... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Developmental protein
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Wnt signaling pathway
Gene summary (Entrez)i

Useful information about the gene from Entrez

DVL1, the human homolog of the Drosophila dishevelled gene (dsh) encodes a cytoplasmic phosphoprotein that regulates cell proliferation, acting as a transducer molecule for developmental processes, including segmentation and neuroblast specification. DVL1 is a candidate gene for neuroblastomatous transformation. The Schwartz-Jampel syndrome and Charcot-Marie-Tooth disease type 2A have been mapped to the same region as DVL1. The phenotypes of these diseases may be consistent with defects which might be expected from aberrant expression of a DVL gene during development. [provided by RefSeq, Jul 2008]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
DVL1-201
ENSP00000368166
ENST00000378888
O14640
[Direct mapping] Segment polarity protein dishevelled homolog DVL-1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Human disease related genes
   Congenital malformations
   Other congenital malformations
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001505 [regulation of neurotransmitter levels]
GO:0001932 [regulation of protein phosphorylation]
GO:0001933 [negative regulation of protein phosphorylation]
GO:0001934 [positive regulation of protein phosphorylation]
GO:0001947 [heart looping]
GO:0003151 [outflow tract morphogenesis]
GO:0005109 [frizzled binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005874 [microtubule]
GO:0005886 [plasma membrane]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006469 [negative regulation of protein kinase activity]
GO:0007269 [neurotransmitter secretion]
GO:0007409 [axonogenesis]
GO:0007411 [axon guidance]
GO:0007528 [neuromuscular junction development]
GO:0008013 [beta-catenin binding]
GO:0010976 [positive regulation of neuron projection development]
GO:0014069 [postsynaptic density]
GO:0015630 [microtubule cytoskeleton]
GO:0016020 [membrane]
GO:0016055 [Wnt signaling pathway]
GO:0016328 [lateral plasma membrane]
GO:0019899 [enzyme binding]
GO:0019901 [protein kinase binding]
GO:0021915 [neural tube development]
GO:0022007 [convergent extension involved in neural plate elongation]
GO:0022603 [regulation of anatomical structure morphogenesis]
GO:0030136 [clathrin-coated vesicle]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
GO:0031122 [cytoplasmic microtubule organization]
GO:0031267 [small GTPase binding]
GO:0031410 [cytoplasmic vesicle]
GO:0032091 [negative regulation of protein binding]
GO:0032436 [positive regulation of proteasomal ubiquitin-dependent protein catabolic process]
GO:0032880 [regulation of protein localization]
GO:0034504 [protein localization to nucleus]
GO:0035176 [social behavior]
GO:0035372 [protein localization to microtubule]
GO:0035556 [intracellular signal transduction]
GO:0035567 [non-canonical Wnt signaling pathway]
GO:0042802 [identical protein binding]
GO:0043005 [neuron projection]
GO:0043025 [neuronal cell body]
GO:0043113 [receptor clustering]
GO:0043197 [dendritic spine]
GO:0045202 [synapse]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0048668 [collateral sprouting]
GO:0048675 [axon extension]
GO:0048813 [dendrite morphogenesis]
GO:0050790 [regulation of catalytic activity]
GO:0050808 [synapse organization]
GO:0050821 [protein stabilization]
GO:0060029 [convergent extension involved in organogenesis]
GO:0060070 [canonical Wnt signaling pathway]
GO:0060071 [Wnt signaling pathway, planar cell polarity pathway]
GO:0060134 [prepulse inhibition]
GO:0060997 [dendritic spine morphogenesis]
GO:0071340 [skeletal muscle acetylcholine-gated channel clustering]
GO:0090103 [cochlea morphogenesis]
GO:0090179 [planar cell polarity pathway involved in neural tube closure]
GO:0098685 [Schaffer collateral - CA1 synapse]
GO:0098793 [presynapse]
GO:0098978 [glutamatergic synapse]
GO:0098992 [neuronal dense core vesicle]
GO:0099054 [presynapse assembly]
GO:0099173 [postsynapse organization]
GO:0099175 [regulation of postsynapse organization]
GO:0150012 [positive regulation of neuron projection arborization]
GO:1905386 [positive regulation of protein localization to presynapse]
GO:1990909 [Wnt signalosome]
GO:2000300 [regulation of synaptic vesicle exocytosis]
GO:2000463 [positive regulation of excitatory postsynaptic potential]
Show all
695 aa
75.2 kDa
No 0
DVL1-202
ENSP00000368169
ENST00000378891
O14640
[Direct mapping] Segment polarity protein dishevelled homolog DVL-1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Human disease related genes
   Congenital malformations
   Other congenital malformations
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001505 [regulation of neurotransmitter levels]
GO:0001947 [heart looping]
GO:0003151 [outflow tract morphogenesis]
GO:0005109 [frizzled binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006469 [negative regulation of protein kinase activity]
GO:0007269 [neurotransmitter secretion]
GO:0007528 [neuromuscular junction development]
GO:0016020 [membrane]
GO:0016055 [Wnt signaling pathway]
GO:0016328 [lateral plasma membrane]
GO:0019899 [enzyme binding]
GO:0019901 [protein kinase binding]
GO:0021915 [neural tube development]
GO:0022603 [regulation of anatomical structure morphogenesis]
GO:0030426 [growth cone]
GO:0031410 [cytoplasmic vesicle]
GO:0032091 [negative regulation of protein binding]
GO:0032436 [positive regulation of proteasomal ubiquitin-dependent protein catabolic process]
GO:0032880 [regulation of protein localization]
GO:0034504 [protein localization to nucleus]
GO:0035556 [intracellular signal transduction]
GO:0035567 [non-canonical Wnt signaling pathway]
GO:0042802 [identical protein binding]
GO:0043005 [neuron projection]
GO:0043113 [receptor clustering]
GO:0045202 [synapse]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0048813 [dendrite morphogenesis]
GO:0050790 [regulation of catalytic activity]
GO:0050808 [synapse organization]
GO:0050821 [protein stabilization]
GO:0060070 [canonical Wnt signaling pathway]
GO:0060071 [Wnt signaling pathway, planar cell polarity pathway]
GO:0090179 [planar cell polarity pathway involved in neural tube closure]
GO:0099054 [presynapse assembly]
GO:0150012 [positive regulation of neuron projection arborization]
GO:1905386 [positive regulation of protein localization to presynapse]
Show all
670 aa
72.9 kDa
No 0
DVL1-204
ENSP00000488181
ENST00000631679
A0A0J9YWZ5
[Direct mapping] Segment polarity protein dishevelled homolog DVL-1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Other congenital malformations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0016055 [Wnt signaling pathway]
GO:0035556 [intracellular signal transduction]
Show all
251 aa
27.7 kDa
No 0
DVL1-205
ENSP00000488888
ENST00000632445
A0A0J9YYK1
[Direct mapping] Segment polarity protein dishevelled homolog DVL-1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Other congenital malformations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0016055 [Wnt signaling pathway]
GO:0035556 [intracellular signal transduction]
Show all
217 aa
23.3 kDa
No 0

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