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Human protein and coding gene

DVL1

DVL1
All data from the card 18
Aliases
DVL1, DVL, DVL1L1, DVL1P1, DRS2, dishevelled segment polarity protein 1
External IDs
OMIM: 601365; MGI: 94941; GeneCards: DVL1
PDB
Ortholog search: PDBe RCSB
Chr.
Chromosome 1 (human)
Band
1p36.33
End
1,349,418 bp
Chr.
Chromosome 4 (mouse)
Band
4 E2|4 87.61 cM
End
155,943,760 bp
BioGPS
n/a
Databases
NCBI: entry; OMA: entry
Species
Human
Entrez
1855
Ensembl
ENSG00000107404
UniProt
O14640
RefSeq (mRNA)
NM_004421NM_181870NM_182779NM_001330311
RefSeq (protein)
NP_001317240NP_004412
Location (UCSC)
Chr 1: 1.34 – 1.35 Mb

Segment polarity protein dishevelled homolog DVL-1 is a protein that in humans is encoded by the DVL1 gene.

Function

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 processes involved in cell transformations involved in neuroblastoma. 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. Three transcript variants encoding three different isoforms have been found for this gene.

Interactions

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