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DVL1 dishevelled segment polarity protein 1 [ Homo sapiens (human) ]

Gene ID: 1855, updated on 24-Nov-2020

Summary

Official Symbol
DVL1provided by HGNC
Official Full Name
dishevelled segment polarity protein 1provided by HGNC
Primary source
HGNC:HGNC:3084
See related
Ensembl:ENSG00000107404 MIM:601365
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
DVL; DRS2; DVL1L1; DVL1P1
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 16.9), fat (RPKM 14.7) and 25 other tissues See more
Orthologs

Genomic context

See DVL1 in Genome Data Viewer
Location:
1p36.33
Exon count:
16
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (1335278..1349418, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (1270658..1284509, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene integrator complex subunit 11 Neighboring gene microRNA 6727 Neighboring gene ceramide-1-phosphate transfer protein Neighboring gene taste 1 receptor member 3 Neighboring gene microRNA 6808 Neighboring gene matrix remodeling associated 8 Neighboring gene aurora kinase A interacting protein 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of dishevelled, dsh homolog 1 (DVL1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC54245

Gene Ontology Provided by GOA

Function Evidence Code Pubs
beta-catenin binding IEA
Inferred from Electronic Annotation
more info
 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
frizzled binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
frizzled binding IPI
Inferred from Physical Interaction
more info
PubMed 
frizzled binding TAS
Traceable Author Statement
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
small GTPase binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Wnt signaling pathway, planar cell polarity pathway IDA
Inferred from Direct Assay
more info
PubMed 
Wnt signaling pathway, planar cell polarity pathway NAS
Non-traceable Author Statement
more info
PubMed 
axon extension IEA
Inferred from Electronic Annotation
more info
 
axon guidance IEA
Inferred from Electronic Annotation
more info
 
beta-catenin destruction complex disassembly TAS
Traceable Author Statement
more info
 
canonical Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
canonical Wnt signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
canonical Wnt signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
canonical Wnt signaling pathway TAS
Traceable Author Statement
more info
PubMed 
cochlea morphogenesis IEA
Inferred from Electronic Annotation
more info
 
collateral sprouting IEA
Inferred from Electronic Annotation
more info
 
convergent extension involved in neural plate elongation IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic microtubule organization IEA
Inferred from Electronic Annotation
more info
 
dendrite morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
dendritic spine morphogenesis IEA
Inferred from Electronic Annotation
more info
 
heart development NAS
Non-traceable Author Statement
more info
PubMed 
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
negative regulation of canonical Wnt signaling pathway TAS
Traceable Author Statement
more info
 
negative regulation of protein binding IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
neural tube development IEP
Inferred from Expression Pattern
more info
PubMed 
neuromuscular junction development ISS
Inferred from Sequence or Structural Similarity
more info
 
neurotransmitter secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
non-canonical Wnt signaling pathway TAS
Traceable Author Statement
more info
PubMed 
planar cell polarity pathway involved in neural tube closure IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuron projection arborization ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein localization to presynapse TAS
Traceable Author Statement
more info
PubMed 
positive regulation of protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
prepulse inhibition IEA
Inferred from Electronic Annotation
more info
 
presynapse assembly TAS
Traceable Author Statement
more info
PubMed 
protein localization to microtubule IEA
Inferred from Electronic Annotation
more info
 
protein localization to nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein stabilization IDA
Inferred from Direct Assay
more info
PubMed 
receptor clustering ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cellular protein localization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of neurotransmitter levels ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
skeletal muscle acetylcholine-gated channel clustering IEA
Inferred from Electronic Annotation
more info
 
social behavior IEA
Inferred from Electronic Annotation
more info
 
synapse organization ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
Wnt signalosome IEA
Inferred from Electronic Annotation
more info
 
clathrin-coated vesicle IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
dendritic spine IEA
Inferred from Electronic Annotation
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
growth cone IDA
Inferred from Direct Assay
more info
PubMed 
lateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
microtubule IEA
Inferred from Electronic Annotation
more info
 
neuron projection IDA
Inferred from Direct Assay
more info
PubMed 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
presynapse IEA
Inferred from Electronic Annotation
more info
 
synapse ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
segment polarity protein dishevelled homolog DVL-1
Names
DSH homolog 1
dishevelled 1 (homologous to Drosophila dsh)
dishevelled, dsh homolog 1
dishevelled-1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_008048.2 RefSeqGene

    Range
    4695..18835
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001330311.2NP_001317240.1  segment polarity protein dishevelled homolog DVL-1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL139287
    Consensus CDS
    CCDS81252.1
    UniProtKB/Swiss-Prot
    O14640
    Related
    ENSP00000368166.5, ENST00000378888.10
  2. NM_004421.3NP_004412.2  segment polarity protein dishevelled homolog DVL-1 isoform 2

    See identical proteins and their annotated locations for NP_004412.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AL139287
    Consensus CDS
    CCDS22.1
    UniProtKB/Swiss-Prot
    O14640
    Related
    ENSP00000368169.5, ENST00000378891.9
    Conserved Domains (5) summary
    smart00021
    Location:185
    DAX; Domain present in Dishevelled and axin
    cd04438
    Location:392474
    DEP_dishevelled; DEP (Dishevelled, Egl-10, and Pleckstrin) domain found in dishevelled-like proteins. Dishevelled-like proteins play a key role in the transduction of the Wnt signal from the cell surface to the nucleus, which in turn is an important regulatory pathway ...
    pfam00595
    Location:251336
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam02377
    Location:90247
    Dishevelled; Dishevelled specific domain
    pfam12316
    Location:478660
    Dsh_C; Segment polarity protein dishevelled (Dsh) C terminal

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    1335278..1349418 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005244732.4XP_005244789.1  segment polarity protein dishevelled homolog DVL-1 isoform X1

    Conserved Domains (4) summary
    smart00021
    Location:185
    DAX; Domain present in Dishevelled and axin
    cd04438
    Location:417499
    DEP_dishevelled; DEP (Dishevelled, Egl-10, and Pleckstrin) domain found in dishevelled-like proteins. Dishevelled-like proteins play a key role in the transduction of the Wnt signal from the cell surface to the nucleus, which in turn is an important regulatory pathway ...
    pfam00595
    Location:251336
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam02377
    Location:90247
    Dishevelled; Dishevelled specific domain
  2. XM_005244733.4XP_005244790.1  segment polarity protein dishevelled homolog DVL-1 isoform X2

    Conserved Domains (4) summary
    smart00021
    Location:185
    DAX; Domain present in Dishevelled and axin
    cd04438
    Location:392474
    DEP_dishevelled; DEP (Dishevelled, Egl-10, and Pleckstrin) domain found in dishevelled-like proteins. Dishevelled-like proteins play a key role in the transduction of the Wnt signal from the cell surface to the nucleus, which in turn is an important regulatory pathway ...
    pfam00595
    Location:251336
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam02377
    Location:90247
    Dishevelled; Dishevelled specific domain

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_181870.1: Suppressed sequence

    Description
    NM_181870.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  2. NM_182779.3: Suppressed sequence

    Description
    NM_182779.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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