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

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; AllianceGenome:HGNC:3084
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: mouse all
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Genomic context

Location:: 1p36.33

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (1335278..1349418, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (766863..781044, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (1270658..1284798, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Wnt pathway protein Dvl1 targets somatostatin receptor 2 for lysosome-dependent degradation.
Title: The Wnt pathway protein Dvl1 targets somatostatin receptor 2 for lysosome-dependent degradation.
Dvl proteins regulate SMAD1, AHR, mTOR, BRD7 protein expression while differentially regulating canonical and non-canonical Wnt signaling pathways in CML cell lines.
Title: Dvl proteins regulate SMAD1, AHR, mTOR, BRD7 protein expression while differentially regulating canonical and non-canonical Wnt signaling pathways in CML cell lines.
FUBP1 promotes colorectal cancer stemness and metastasis via DVL1-mediated activation of Wnt/beta-catenin signaling.
Title: FUBP1 promotes colorectal cancer stemness and metastasis via DVL1-mediated activation of Wnt/β-catenin signaling.
DVL1 and DVL3 require nuclear localisation to regulate proliferation in human myoblasts.
Title: DVL1 and DVL3 require nuclear localisation to regulate proliferation in human myoblasts.
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
Title: Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome.
Title: Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome.
Identification of 4-methylation driven genes based prognostic signature in thyroid cancer: an integrative analysis based on the methylmix algorithm.
Title: Identification of 4-methylation driven genes based prognostic signature in thyroid cancer: an integrative analysis based on the methylmix algorithm.
Decoding the Role of DVL1 in Intracranial Meningioma.
Title: Decoding the Role of DVL1 in Intracranial Meningioma.
Pleiotropic tumor suppressor functions of WWOX antagonize metastasis.
Title: Pleiotropic tumor suppressor functions of WWOX antagonize metastasis.
Clinical and molecular characterization of four patients with Robinow syndrome from different families.
Title: Clinical and molecular characterization of four patients with Robinow syndrome from different families.

Submit: New GeneRIF Correction See all GeneRIFs (64)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal dominant Robinow syndrome 1 MedGen: C4551475 OMIM: 180700 GeneReviews: Autosomal Dominant Robinow Syndrome	Compare labs
Autosomal dominant Robinow syndrome 2 MedGen: C4225363 OMIM: 616331 GeneReviews: Autosomal Dominant Robinow Syndrome	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH68255 (e-PCR)
- UniSTS:44192

SHGC-74072 (e-PCR)
- UniSTS:77482

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables beta-catenin binding	IEA Inferred from Electronic Annotation more info
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables frizzled binding	IBA Inferred from Biological aspect of Ancestor more info
enables frizzled binding	IPI Inferred from Physical Interaction more info	PubMed
enables frizzled binding	TAS Traceable Author Statement more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway, planar cell polarity pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in Wnt signaling pathway, planar cell polarity pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in axon extension	IEA Inferred from Electronic Annotation more info
involved_in axon guidance	IEA Inferred from Electronic Annotation more info
involved_in canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in canonical Wnt signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in canonical Wnt signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in cochlea morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in collateral sprouting	IEA Inferred from Electronic Annotation more info
involved_in convergent extension involved in neural plate elongation	IEA Inferred from Electronic Annotation more info
involved_in cytoplasmic microtubule organization	IEA Inferred from Electronic Annotation more info
involved_in dendrite morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in dendritic spine morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in heart looping	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in neural tube development	IEP Inferred from Expression Pattern more info	PubMed
involved_in neuromuscular junction development	ISS Inferred from Sequence or Structural Similarity more info
involved_in neurotransmitter secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in non-canonical Wnt signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in outflow tract morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in planar cell polarity pathway involved in neural tube closure	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of excitatory postsynaptic potential	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron projection arborization	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neuron projection development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein localization to presynapse	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of protein phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in prepulse inhibition	IEA Inferred from Electronic Annotation more info
involved_in presynapse assembly	TAS Traceable Author Statement more info	PubMed
involved_in protein localization to microtubule	IEA Inferred from Electronic Annotation more info
involved_in protein localization to nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein stabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in receptor clustering	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of postsynapse organization	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein localization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of synaptic vesicle exocytosis	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle acetylcholine-gated channel clustering	IEA Inferred from Electronic Annotation more info
involved_in social behavior	IEA Inferred from Electronic Annotation more info
involved_in synapse organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in synaptic vesicle exocytosis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Schaffer collateral - CA1 synapse	IEA Inferred from Electronic Annotation more info
part_of Wnt signalosome	IEA Inferred from Electronic Annotation more info
located_in clathrin-coated vesicle	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in dendritic spine	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in growth cone	IDA Inferred from Direct Assay more info	PubMed
located_in lateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule	IEA Inferred from Electronic Annotation more info
located_in neuron projection	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in neuronal dense core vesicle	IEA Inferred from Electronic Annotation more info
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info
located_in presynapse	IEA Inferred from Electronic Annotation more info
located_in synapse	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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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)

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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

NG_008048.2 RefSeqGene

Range

4695..18835

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001330311.2 → NP_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, P54792, Q5TA33, Q5TA35

Related

ENSP00000368166.5, ENST00000378888.10
NM_004421.3 → NP_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

P54792

UniProtKB/TrEMBL

B7Z1E8

Related

ENSP00000368169.5, ENST00000378891.9

Conserved Domains (5) summary

smart00021
Location:1 → 85

DAX; Domain present in Dishevelled and axin

cd04438
Location:392 → 474

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:251 → 336

PDZ; PDZ domain (Also known as DHR or GLGF)

pfam02377
Location:90 → 247

Dishevelled; Dishevelled specific domain

pfam12316
Location:478 → 660

Dsh_C; Segment polarity protein dishevelled (Dsh) C terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

1335278..1349418 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005244733.5 → XP_005244790.1 segment polarity protein dishevelled homolog DVL-1 isoform X2

UniProtKB/TrEMBL

Q6PJD6

Conserved Domains (4) summary

smart00021
Location:1 → 85

DAX; Domain present in Dishevelled and axin

cd04438
Location:392 → 474

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:251 → 336

PDZ; PDZ domain (Also known as DHR or GLGF)

pfam02377
Location:90 → 247

Dishevelled; Dishevelled specific domain
XM_005244732.5 → XP_005244789.1 segment polarity protein dishevelled homolog DVL-1 isoform X1

UniProtKB/Swiss-Prot

P54792

Conserved Domains (4) summary

smart00021
Location:1 → 85

DAX; Domain present in Dishevelled and axin

cd04438
Location:417 → 499

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:251 → 336

PDZ; PDZ domain (Also known as DHR or GLGF)

pfam02377
Location:90 → 247

Dishevelled; Dishevelled specific domain
XM_047448090.1 → XP_047304046.1 segment polarity protein dishevelled homolog DVL-1 isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

766863..781044 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054334805.1 → XP_054190780.1 segment polarity protein dishevelled homolog DVL-1 isoform X2
XM_054334804.1 → XP_054190779.1 segment polarity protein dishevelled homolog DVL-1 isoform X1
XM_054334806.1 → XP_054190781.1 segment polarity protein dishevelled homolog DVL-1 isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.
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.