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Shank1
Gene Detail
 Symbol
Name
ID
Shank1
SH3/ankyrin domain gene 1
MGI:3613677
Feature Type protein coding gene
Genetic Map
Chromosome 7
28.83 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr7:44310253-44358351 bp, + strand
From VEGA annotation of GRCm38

  48099 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:22949  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog

Gene Tree: Shank1

Human
homologs
Human Homolog SHANK1, SH3 and multiple ankyrin repeat domains 1
NCBI Gene ID 50944
neXtProt AC  NX_Q9Y566
Human Synonyms  SPANK-1, SSTRIP, synamon
Human Chr (Location)  19q13.3; chr19:50659795-50719783 (-)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Gene trapped(3) Targeted(1)
Incidental mutations (data from Mutagenetix , APF )
 
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 fear memory, but enhanced spatial learning.
 
Interactions
Shank1 interacts with 179 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (51 annotations)
Process adult behavior, associative learning, ...
Component cell junction, cytoplasm, ...
Function ankyrin repeat binding, GKAP/Homer scaffold activity, ...
Expression
Literature Summary: (4 records)
Data Summary: Results (8)    Tissues (3)   
Theiler Stages: 23, 27, 28
Assay TypeResults
RNA in situ 3
RT-PCR 5
cDNA source data(3)
External Resources: GEO   Expression Atlas
Molecular
reagents
All nucleic(4) cDNA(3) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000016443 (Evidence)
Ensembl Gene ModelENSMUSG00000038738 (Evidence)
Entrez Gene243961 (Evidence)
DFCITC1610297, TC1623648, TC1630417, TC1650067
DoTSDT.101129176, DT.55275547, DT.60100690, DT.91334530
NIA Mouse Gene IndexU210815
Consensus CDS ProjectCCDS52229.1
International Mouse Knockout Project StatusShank1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016443 VEGA Gene Model | MGI Sequence Detail 48099 C57BL/6J ±  kb
transcript OTTMUST00000039587 VEGA | MGI Sequence Detail 7605 Not Applicable 
polypeptide OTTMUSP00000017680 VEGA | MGI Sequence Detail 2167 Not Applicable 

For the selected sequences
All sequences(67) RefSeq(28) UniProt(3)
Polymorphisms SNPs within 2kb(177 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002110 Ankyrin repeat
InterPro IPR020683 Ankyrin repeat-containing domain
InterPro IPR001478 PDZ domain
InterPro IPR001452 Src homology-3 domain
InterPro IPR001660 Sterile alpha motif domain
InterPro IPR013761 Sterile alpha motif/pointed domain
InterPro IPR021129 Sterile alpha motif, type 1
InterPro IPR011511 Variant SH3
Protein Ontology PR:000014831 SH3 and multiple ankyrin repeat domains protein 1
References (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:197901 Jiang YH, et al., Modeling autism by SHANK gene mutations in mice. Neuron. 2013 Apr 10;78(1):8-27
All references(33)

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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last database update
09/23/2014
MGI 5.19
The Jackson Laboratory