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Shank1 Gene Detail
Summary
  • Symbol
    Shank1
  • Name
    SH3/ankyrin domain gene 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:3613677
    NCBI Gene: 243961
  • Gene Overview
    MyGene.info: SHANK1
Location & Maps
more
  • Sequence Map
    Chr7:44310253-44360572 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      50320 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 28.83 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    SHANK1, SH3 and multiple ankyrin repeat domains 1
  • Vertebrate Orthologs
    7
  • Human Ortholog
    SHANK1, SH3 and multiple ankyrin repeat domains 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    SPANK-1, SSTRIP, synamon
  • Links
    NCBI Gene ID: 50944
    neXtProt AC: NX_Q9Y566
    UniProt: Q9Y566

  • Chr Location
    19q13.33; chr19:50659257-50719779 (-)  GRCh38.p7
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    13 phenotypes from 1 allele in 1 genetic background
    6 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.
Homozygous mutation of this gene results in smaller pyramidal neuron dendritic spines, smaller and thinner postsynaptic density of central excitatory synapses, weaker synaptic transmission, increased anxiety-related behavior, and impaired contextual fearmemory, but enhanced spatial learning.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    52
  • GO References
    13
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    8
  • Tissues
    3
  • cDNA Data
    3
  • Literature Summary
    6
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016443 VEGA Gene Model | MGI Sequence Detail 50320 C57BL/6J ±  kb
transcript OTTMUST00000039587 VEGA | MGI Sequence Detail 9826 Not Applicable  
polypeptide OTTMUSP00000017680 VEGA | MGI Sequence Detail 2167 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    190 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 4
    cDNA 3
    Primer pair 1

    Microarray probesets 3
References
more
  • Summaries
    All 32
    Developmental Gene Expression 6
    Gene Ontology 13
    Phenotypes 6
  • Earliest
    J:107647 Thuret S, et al., Identification and developmental analysis of genes expressed by dopaminergic neurons of the substantia nigra pars compacta. Mol Cell Neurosci. 2004 Mar;25(3):394-405
  • Latest
    J:221584 Quesnel-Vallieres M, et al., Essential roles for the splicing regulator nSR100/SRRM4 during nervous system development. Genes Dev. 2015 Apr 1;29(7):746-59
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
09/12/2017
MGI 6.10 		The Jackson Laboratory