Seroatlas · Human Serome Atlas

DVL1

Segment polarity protein dishevelled homolog DVL-1

Also known as: DVL1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
O14640
Gene
DVL1
Ensembl
ENSG00000107404
Chromosome
1
Canonical length
695 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Vesicles,Plasma membrane,Focal adhesion sites
Quaternary structure
Homooligomer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

695 residues, UniProt reviewed canonical sequence.

>O14640|DVL1
     1  MAETKIIYHM DEEETPYLVK LPVAPERVTL ADFKNVLSNR PVHAYKFFFK SMDQDFGVVK
    61  EEIFDDNAKL PCFNGRVVSW LVLAEGAHSD AGSQGTDSHT DLPPPLERTG GIGDSRPPSF
   121  HPNVASSRDG MDNETGTESM VSHRRERARR RNREEAARTN GHPRGDRRRD VGLPPDSAST
   181  ALSSELESSS FVDSDEDGST SRLSSSTEQS TSSRLIRKHK RRRRKQRLRQ ADRASSFSSI
   241  TDSTMSLNIV TVTLNMERHH FLGISIVGQS NDRGDGGIYI GSIMKGGAVA ADGRIEPGDM
   301  LLQVNDVNFE NMSNDDAVRV LREIVSQTGP ISLTVAKCWD PTPRSYFTVP RADPVRPIDP
   361  AAWLSHTAAL TGALPRYGTS PCSSAVTRTS SSSLTSSVPG APQLEEAPLT VKSDMSAVVR
   421  VMQLPDSGLE IRDRMWLKIT IANAVIGADV VDWLYTHVEG FKERREARKY ASSLLKHGFL
   481  RHTVNKITFS EQCYYVFGDL CSNLATLNLN SGSSGTSDQD TLAPLPHPAA PWPLGQGYPY
   541  QYPGPPPCFP PAYQDPGFSY GSGSTGSQQS EGSKSSGSTR SSRRAPGREK ERRAAGAGGS
   601  GSESDHTAPS GVGSSWRERP AGQLSRGSSP RSQASATAPG LPPPHPTTKA YTVVGGPPGG
   661  PPVRELAAVP PELTGSRQSF QKAMGNPCEF FVDIM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DVL1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.56
Highest tissue expression
215 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 215 nTPM
  • cerebral cortex: 91 nTPM
  • hippocampal formation: 83 nTPM
  • amygdala: 82 nTPM
  • heart muscle: 68 nTPM
  • tongue: 65 nTPM

Single-cell type

  • esophageal apical cells: 92 nCPM
  • alveolar cells type 1: 78 nCPM
  • esophageal suprabasal cells: 47 nCPM
  • breast lactating cells: 45 nCPM
  • sertoli cells: 39 nCPM
  • pancreatic acinar cells: 39 nCPM

Immune cell

  • classical monocyte: 0.2 nTPM
  • gdT-cell: 0.2 nTPM
  • intermediate monocyte: 0.2 nTPM
  • memory B-cell: 0.2 nTPM
  • memory CD8 T-cell: 0.2 nTPM
  • naive CD4 T-cell: 0.2 nTPM

Brain region

  • cerebral cortex: 110 nTPM
  • hippocampal formation: 108 nTPM
  • amygdala: 105 nTPM
  • medulla oblongata: 88 nTPM
  • basal ganglia: 85 nTPM
  • white matter: 83 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DVL1.

Disease | AllUniProt

Conditions DVL1 is implicated in, by any mechanism.

  • Robinow syndrome, autosomal dominant 2 (DRS2) MIM:616331

Disease | GeneticClinVar

24 pathogenic / likely-pathogenic of 847 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.73
gnomAD pLI
0
gnomAD missense Z
-1.13
DepMap mean gene effect
-0.22
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DVL1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DVL1 as an antibody target. Whether an autoantibody or antibody against DVL1 could matter depends on whether native DVL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DVL1 is annotated at the cell surface, where native DVL1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label DVL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/DVL1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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