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

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

Alleles and phenotypes

All 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.

 

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 (2)   
Theiler Stages: 23, 28

Assay Type	Results
RNA in situ	3
RT-PCR	5

cDNA source data(3)
External Resources: GEO   ArrayExpress

Molecular reagents

All nucleic(4) cDNA(3) Primer pair(1)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000016443 (Evidence)
Ensembl Gene Model	ENSMUSG00000038738 (Evidence)
Entrez Gene	243961 (Evidence)
DFCI	TC1610297, TC1623648, TC1630417, TC1650067
DoTS	DT.101129176, DT.55275547, DT.60100690, DT.91334530
NIA Mouse Gene Index	U210815
Consensus CDS Project	CCDS52229.1
International Mouse Knockout Project Status	Shank1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000016443	VEGA Gene Model | MGI Sequence Detail	48099	C57BL/6J
transcript	OTTMUST00000039587	VEGA | MGI Sequence Detail	7605	Not Applicable
polypeptide	OTTMUSP00000017680	VEGA | MGI Sequence Detail	2167	Not Applicable

All sequences(67) RefSeq(28) UniProt(3)

Polymorphisms

SNPs within 2kb(177 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
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)