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Shank1 Gene Detail
Summary
  • Symbol
    Shank1
  • Name
    SH3 and multiple ankyrin repeat domains 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:3613677
    NCBI Gene: 243961
  • Alliance
    genome feature page
  • Transcription Start Sites
    21 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:43959677-44009996 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 28.83 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    820 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3613677
 protein coding gene Chr7:43958343-44009996 (+)
129S1/SvImJ ENSMUSG00200022631
 protein coding gene Chr7:31553756-31601680 (+)
A/J ENSMUSG00195045219
 protein coding gene Chr7:35582248-35630144 (+)
AKR/J ENSMUSG00220053252
 protein coding gene Chr7:29886698-29934590 (+)
BALB/cJ ENSMUSG00180033684
 protein coding gene Chr7:32457678-32505565 (+)
C3H/HeJ ENSMUSG00175030063
 protein coding gene Chr7:32989700-33037621 (+)
C57BL/6NJ ENSMUSG00215042225
 protein coding gene Chr7:32251386-32299313 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029655
 protein coding gene Chr7:46254395-46304667 (+)
CAST/EiJ ENSTCUG00005045054
 protein coding gene Chr7:35968027-36016424 (+)
CBA/J ENSMUSG00210043872
 protein coding gene Chr7:33361086-33409012 (+)
DBA/2J ENSMUSG00185038728
 protein coding gene Chr7:37227830-37275958 (+)
FVB/NJ ENSMUSG00205042059
 protein coding gene Chr7:32906302-32954227 (+)
JF1/MsJ ENSUMUG00000050014
 protein coding gene Chr7:41714946-41763056 (+)
LP/J ENSMUSG00230050697
 protein coding gene Chr7:42656765-42704637 (+)
NOD/ShiLtJ ENSMUSG00190043422
 protein coding gene Chr7:33228529-33276441 (+)
NZO/HlLtJ ENSMUSG00225015944
 protein coding gene Chr7:40867654-40915730 (+)
PWK/PhJ ENSLUMG00010044293
 protein coding gene Chr7:32183219-32231144 (+)
SPRET/EiJ ENSMSPG00010032837
 protein coding gene Chr7:31973459-32021681 (+)
WSB/EiJ ENSIUOG00005026435
 protein coding gene Chr7:33779291-33827220 (+)



Homology
more
  • Human Ortholog
    SHANK1, SH3 and multiple ankyrin repeat domains 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SHANK1, SH3 and multiple ankyrin repeat domains 1
  • Synonyms
    SPANK-1, SSTRIP, synamon
  • Links
    NCBI Gene ID: 50944
    UniProt: Q9Y566

  • Chr Location
    19q13.33; chr19:50659255-50719802 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    26 phenotypes from 2 alleles in 2 genetic backgrounds
    19 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
less
  • All GO Annotations
    119
  • GO References
    18
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
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
    626
  • Tissues
    9
  • cDNA Data
    3
  • Literature Summary
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000038738 Ensembl Gene Model | MGI Sequence Detail 50320 C57BL/6J ±  kb
    transcript ENSMUST00000107938 Ensembl | MGI Sequence Detail 9826 Not Applicable  
    polypeptide ENSMUSP00000103571 Ensembl | MGI Sequence Detail 2167 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 6
      cDNA 3
      Primer pair 3
      Antibodies 2

      Microarray probesets 3
    References
    more
    • Summaries
      All 66
      Developmental Gene Expression 12
      Gene Ontology 18
      Phenotypes 19
    • 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:389864 Murata K, et al., A novel miniTurbo knock-in mouse reveals a protein interaction network of USP46 in the brain. Exp Anim. 2026 Jan 1;75(1):63-72
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/01/2026
    MGI 6.24     		The Jackson Laboratory