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Wasf1 Gene Detail
Summary
  • Symbol
    Wasf1
  • Name
    WASP family, member 1
  • Synonyms
    Scar, WAVE, WAVE-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1890563
    NCBI Gene: 83767
  • Alliance
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:40759476-40814565 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 10, 22.07 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1643 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1890563
protein coding gene Chr10:40759471-40814566 (+)
129S1/SvImJ MGP_129S1SvImJ_G0017168
protein coding gene Chr10:39502307-39566424 (+)
A/J MGP_AJ_G0017145
protein coding gene Chr10:38402366-38457910 (+)
AKR/J MGP_AKRJ_G0017105
protein coding gene Chr10:38958188-39029837 (+)
BALB/cJ MGP_BALBcJ_G0017107
protein coding gene Chr10:38483437-38538759 (+)
C3H/HeJ MGP_C3HHeJ_G0016928
protein coding gene Chr10:39282384-39340152 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017566
protein coding gene Chr10:40712919-40770861 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015262
protein coding gene Chr10:36364250-36421731 (+)
CAST/EiJ MGP_CASTEiJ_G0016507
protein coding gene Chr10:39483996-39539291 (+)
CBA/J MGP_CBAJ_G0016902
protein coding gene Chr10:42572741-42630017 (+)
DBA/2J MGP_DBA2J_G0017007
protein coding gene Chr10:37916823-37971624 (+)
FVB/NJ MGP_FVBNJ_G0017002
protein coding gene Chr10:37415641-37470066 (+)
LP/J MGP_LPJ_G0017084
protein coding gene Chr10:39483674-39547093 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0017032
protein coding gene Chr10:43386530-43443744 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017603
protein coding gene Chr10:38939391-38996586 (+)
PWK/PhJ MGP_PWKPhJ_G0016287
protein coding gene Chr10:37806971-37862544 (+)
SPRET/EiJ MGP_SPRETEiJ_G0016071
protein coding gene Chr10:38777770-38840421 (+)
WSB/EiJ MGP_WSBEiJ_G0016570
protein coding gene Chr10:39280994-39341080 (+)



Homology
more
  • Human Ortholog
    WASF1, WASP family member 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    WASF1, WASP family member 1
  • Synonyms
    NEDALVS, SCAR1, WAVE, WAVE1
  • Links
    NCBI Gene ID: 8936
    neXtProt AC: NX_Q92558
    UniProt: Q92558

  • Chr Location
    6q21; chr6:110099819-110180004 (-)  GRCh38

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    34 phenotypes from 3 alleles in 2 genetic backgrounds
    27 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mutation of this gene has been associated with both morphological and functional defects of the central nervous system. Targeted mutagenesis has resulted in mice that display sensorimotor and cognitive defects similar to those exhibited by patients with 3p-syndrome mental retardation.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic 83767 NCBI Gene Model | MGI Sequence Detail 55090 C57BL/6J ±  kb
    transcript NM_001379453 RefSeq | MGI Sequence Detail 2718 ZRU/MplStud  
    polypeptide Q8R5H6 UniProt | EBI | MGI Sequence Detail 559 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 29
      cDNA 23
      Primer pair 4
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2143538, MGI:2143675
    References
    more
    • Summaries
      All 82
      Developmental Gene Expression 12
      Gene Ontology 16
      Phenotypes 27
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:354447 Zhang Y, et al., Neurodevelopmental disorder-associated CYFIP2 regulates membraneless organelles and eIF2alpha phosphorylation via protein interactors and actin cytoskeleton. Hum Mol Genet. 2024 Sep 19;33(19):1671-1687

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    last database update
    12/10/2024
    MGI 6.24
    The Jackson Laboratory