GENE VIEW

MOUSE GENE INFORMATION [PubMed]
Description SH3/ankyrin domain gene 1
Synonyms
Chromosome 7
Genetic Map Distance 28.83 cM
RefSeq Accessions NM_001034115; NP_001029287
NCBI Entrez Gene 243961 at chr7:51565634-51613723 (mm9) / chr7:44307933-44358353 (mm10)
Ensembl Gene ENSMUSG00000038738
VEGA Gene OTTMUSG00000016443
MGI Gene MGI:3613677
Mouse Protein (4)
UniProt ID Description Length (AA) Predicted # TMs
D3YYJ0 Uncharacterized protein 722 0
D3YZU1 Uncharacterized protein 2167 0
D3YZU4 Uncharacterized protein 2159 0
D3YZU5 Uncharacterized protein 2158 0
Pfam Domains Ank; Ank; Defensin_2; Ank; Ank; Ank; SH3_2; PDZ
Mouse alleles (1)
Allele Name Allele Type
Shank1tm1Shng Targeted (knock-out)
Human Homolog SHANK1 (SH3 and multiple ankyrin repeat domains 1)
Human synonyms SPANK-1; SSTRIP; synamon
Human cytoband 19q13.3
Known deafness gene No
Within mapped deafness loci No
Associated Human Disease in OMIM
None
Chicken homolog (0)
Gene Ontology
Biological Process (13) associative learning; dendritic spine morphogenesis; long-term memory; neuromuscular process controlling balance; regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; protein localization to synapse; negative regulation of actin filament bundle assembly; cell differentiation; nervous system development; protein complex assembly; positive regulation of excitatory postsynaptic membrane potential; synapse maturation; positive regulation of dendritic spine development
Cellular Component (13) excitatory synapse; membrane fraction; membrane fraction; cytoplasm; membrane; plasma membrane; cell junction; postsynaptic density; N-methyl-D-aspartate selective glutamate receptor complex; dendritic spine; synapse; postsynaptic membrane; postsynaptic membrane
Molecular Function (12) GKAP/Homer scaffold activity; GKAP/Homer scaffold activity; ionotropic glutamate receptor binding; ionotropic glutamate receptor binding; protein C-terminus binding; SH3 domain binding; receptor signaling complex scaffold activity; somatostatin receptor binding; protein complex binding; identical protein binding; ankyrin repeat binding; scaffold protein binding
FACS-Sorted Hair Cells
Shank1 is not detected by RNA-Seq.
Adult Cochlear Inner and Outer Hair Cells
Probeset ID IHC (mean ± sd) OHC (mean ± sd) [OHC replicate] Fold Change (OHC/IHC) False Discovery Rate (FDR)
17477428 10.35 ± 0.17 11.27 ± 1.44 [14.34] 1.09 0.501
Otic Progenitor Cells
Shank1 is not detected by RNA-Seq.
Chicken Stereocilium Proteomics
No chicken homolog has been identified for Shank1.
Auditory and Vestibular Ganglion Neurons
No probes available for Shank1 on Affymetrix MOE430_2.0 GeneChip.