• Gene id: 1855

Gene Summary

• Gene Symbol: DVL1   Gene   UCSC   Ensembl
• Aliases: DRS2, DVL, DVL1L1, DVL1P1
• Gene name: dishevelled segment polarity protein 1
• Alternate names: segment polarity protein dishevelled homolog DVL-1, DSH homolog 1, dishevelled 1 (homologous to Drosophila dsh), dishevelled, dsh homolog 1, dishevelled-1,
• Gene location: 1p36.33 (59484442: 59505409)     Exons: 8     NC_000014.9
• Gene summary(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
• OMIM: 601365

Protein Summary

• Protein general information: O14640  
  • Name: Segment polarity protein dishevelled homolog DVL 1 (Dishevelled 1) (DSH homolog 1)
  • Length: 695  
  • Mass: 75187
• Sequence:

  MAETKIIYHMDEEETPYLVKLPVAPERVTLADFKNVLSNRPVHAYKFFFKSMDQDFGVVKEEIFDDNAKLPCFNG
  RVVSWLVLAEGAHSDAGSQGTDSHTDLPPPLERTGGIGDSRPPSFHPNVASSRDGMDNETGTESMVSHRRERARR
  RNREEAARTNGHPRGDRRRDVGLPPDSASTALSSELESSSFVDSDEDGSTSRLSSSTEQSTSSRLIRKHKRRRRK
  QRLRQADRASSFSSITDSTMSLNIVTVTLNMERHHFLGISIVGQSNDRGDGGIYIGSIMKGGAVAADGRIEPGDM
  LLQVNDVNFENMSNDDAVRVLREIVSQTGPISLTVAKCWDPTPRSYFTVPRADPVRPIDPAAWLSHTAALTGALP
  RYGTSPCSSAVTRTSSSSLTSSVPGAPQLEEAPLTVKSDMSAVVRVMQLPDSGLEIRDRMWLKITIANAVIGADV
  VDWLYTHVEGFKERREARKYASSLLKHGFLRHTVNKITFSEQCYYVFGDLCSNLATLNLNSGSSGTSDQDTLAPL
  PHPAAPWPLGQGYPYQYPGPPPCFPPAYQDPGFSYGSGSTGSQQSEGSKSSGSTRSSRRAPGREKERRAAGAGGS
  GSESDHTAPSGVGSSWRERPAGQLSRGSSPRSQASATAPGLPPPHPTTKAYTVVGGPPGGPPVRELAAVPPELTG
  SRQSFQKAMGNPCEFFVDIM

• Structural information:
  • Protein Domains: (1..8-)
    (/note="DIX-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00069-)
    (251..32-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (425..49-)
    (/note="DEP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00066"-)
  • Interpro: IPR000591  IPR024580  IPR008339  IPR003351  IPR001158   IPR038207  IPR015506  IPR008340  IPR001478  IPR036034  IPR029071  IPR036388  IPR036390  
  • Prosite: PS50186 PS50841 PS50106
  • DIP: 40773
  • STRING: ENSP00000368169
• Other Databases: GeneCards:  DVL1  Malacards:  DVL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005109	frizzled binding	TAS	molecular function
GO:0150012	positive regulation of neuron projection arborization	ISS	biological process
GO:0035567	non-canonical Wnt signaling pathway	TAS	biological process
GO:0060070	canonical Wnt signaling pathway	TAS	biological process
GO:0043005	neuron projection	IDA	cellular component
GO:1903827	regulation of cellular protein localization	IDA	biological process
GO:0050821	protein stabilization	IDA	biological process
GO:0099054	presynapse assembly	TAS	biological process
GO:0030426	growth cone	IDA	cellular component
GO:1905386	positive regulation of protein localization to presynapse	TAS	biological process
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	NAS	biological process
GO:0060070	canonical Wnt signaling pathway	IGI	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0090179	planar cell polarity pathway involved in neural tube closure	IBA	biological process
GO:0060070	canonical Wnt signaling pathway	IBA	biological process
GO:0005109	frizzled binding	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0090090	negative regulation of canonical Wnt signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:1904886	beta-catenin destruction complex disassembly	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060070	canonical Wnt signaling pathway	IDA	biological process
GO:0060070	canonical Wnt signaling pathway	IGI	biological process
GO:0060997	dendritic spine morphogenesis	IEA	biological process
GO:0048365	Rac GTPase binding	IEA	molecular function
GO:0043197	dendritic spine	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0030426	growth cone	IEA	cellular component
GO:0019901	protein kinase binding	IEA	molecular function
GO:0014069	postsynaptic density	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0099173	postsynapse organization	IEA	biological process
GO:0098793	presynapse	IEA	cellular component
GO:0090179	planar cell polarity pathway involved in neural tube closure	IEA	biological process
GO:0090103	cochlea morphogenesis	IEA	biological process
GO:0071340	skeletal muscle acetylcholine-gated channel clustering	IEA	biological process
GO:0060134	prepulse inhibition	IEA	biological process
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	IEA	biological process
GO:0060070	canonical Wnt signaling pathway	IEA	biological process
GO:0048668	collateral sprouting	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0043113	receptor clustering	IEA	biological process
GO:0035372	protein localization to microtubule	IEA	biological process
GO:0030136	clathrin-coated vesicle	IEA	cellular component
GO:0022007	convergent extension involved in neural plate elongation	IEA	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0014069	postsynaptic density	IEA	cellular component
GO:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0007409	axonogenesis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0001934	positive regulation of protein phosphorylation	IEA	biological process
GO:0001932	regulation of protein phosphorylation	IEA	biological process
GO:0001505	regulation of neurotransmitter levels	IEA	biological process
GO:2000463	positive regulation of excitatory postsynaptic potential	IEA	biological process
GO:0150012	positive regulation of neuron projection arborization	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0015630	microtubule cytoskeleton	IEA	cellular component
GO:2000300	regulation of synaptic vesicle exocytosis	IEA	biological process
GO:1990909	Wnt signalosome	IEA	cellular component
GO:0099054	presynapse assembly	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0060029	convergent extension involved in organogenesis	IEA	biological process
GO:0050821	protein stabilization	IEA	biological process
GO:0050808	synapse organization	IEA	biological process
GO:0048813	dendrite morphogenesis	IEA	biological process
GO:0048675	axon extension	IEA	biological process
GO:0035176	social behavior	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0031122	cytoplasmic microtubule organization	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0015630	microtubule cytoskeleton	IEA	cellular component
GO:0008013	beta-catenin binding	IEA	molecular function
GO:0007528	neuromuscular junction development	IEA	biological process
GO:0007269	neurotransmitter secretion	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0001933	negative regulation of protein phosphorylation	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0016328	lateral plasma membrane	IDA	cellular component
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0032091	negative regulation of protein binding	IDA	biological process
GO:0006469	negative regulation of protein kinase activity	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0060070	canonical Wnt signaling pathway	IDA	biological process
GO:0060070	canonical Wnt signaling pathway	IDA	biological process
GO:0060070	canonical Wnt signaling pathway	IDA	biological process
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	IDA	biological process
GO:0007269	neurotransmitter secretion	ISS	biological process
GO:0007528	neuromuscular junction development	ISS	biological process
GO:0031410	cytoplasmic vesicle	ISS	cellular component
GO:0021915	neural tube development	IEP	biological process
GO:0032436	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0034504	protein localization to nucleus	IMP	biological process
GO:0048813	dendrite morphogenesis	ISS	biological process
GO:0050808	synapse organization	ISS	biological process
GO:0001505	regulation of neurotransmitter levels	ISS	biological process
GO:0043113	receptor clustering	ISS	biological process
GO:0045202	synapse	ISS	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0005109	frizzled binding	IPI	molecular function
GO:0005109	frizzled binding	IPI	molecular function
GO:0005109	frizzled binding	IPI	molecular function
GO:0005109	frizzled binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005109	frizzled binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05010	Alzheimer disease
hsa05165	Human papillomavirus infection
hsa04310	Wnt signaling pathway
hsa04150	mTOR signaling pathway
hsa04390	Hippo signaling pathway
hsa05225	Hepatocellular carcinoma
hsa04934	Cushing syndrome
hsa05226	Gastric cancer
hsa04550	Signaling pathways regulating pluripotency of stem cells
hsa05224	Breast cancer
hsa04916	Melanogenesis
hsa05217	Basal cell carcinoma
hsa04330	Notch signaling pathway

Diseases

Associated diseases	References
Robinow syndrome	KEGG:H00485
Robinow syndrome	KEGG:H00485
DiGeorge syndrome	PMID:8644734
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq