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Aliases for SHANK1 Gene

Aliases for SHANK1 Gene

  • SH3 And Multiple Ankyrin Repeat Domains 1 2 3
  • Somatostatin Receptor-Interacting Protein 2 3 4
  • SSTRIP 3 4 6
  • SSTR-Interacting Protein 3 4
  • SH3 And Multiple Ankyrin Repeat Domains Protein 1 3
  • SPANK-1 3
  • Synamon 3
  • Shank1 4

External Ids for SHANK1 Gene

Summaries for SHANK1 Gene

GeneCards Summary for SHANK1 Gene

SHANK1 (SH3 And Multiple Ankyrin Repeat Domains 1) is a Protein Coding gene. Among its related pathways are Circadian entrainment. GO annotations related to this gene include identical protein binding and SH3 domain binding. An important paralog of this gene is SHANK2.

UniProtKB/Swiss-Prot for SHANK1 Gene

  • Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors via complexes with GKAP/PSD-95 and Homer, respectively, and the actin-based cytoskeleton. Plays a role in the structural and functional organization of the dendritic spine and synaptic junction

Gene Wiki entry for SHANK1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SHANK1 Gene

Genomics for SHANK1 Gene

Genomic Location for SHANK1 Gene

Start:
50,659,795 bp from pter
End:
50,719,783 bp from pter
Size:
59,989 bases
Orientation:
Minus strand

Genomic View for SHANK1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SHANK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SHANK1 Gene

Regulatory Elements for SHANK1 Gene

Proteins for SHANK1 Gene

  • Protein details for SHANK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y566-SHAN1_HUMAN
    Recommended name:
    SH3 and multiple ankyrin repeat domains protein 1
    Protein Accession:
    Q9Y566
    Secondary Accessions:
    • A8MXP5
    • B7WNY6
    • Q9NYW9

    Protein attributes for SHANK1 Gene

    Size:
    2161 amino acids
    Molecular mass:
    224959 Da
    Quaternary structure:
    • May homomultimerize via its SAM domain (By similarity). Interacts with the C-terminus of SSTR2 via the PDZ domain. Interacts with IGSF9, SHARPIN, SPTAN1, HOMER1 and DLGAP1/GKAP isoforms 1 and 2 (By similarity). Part of a complex with DLG4/PSD-95 and DLGAP1/GKAP (By similarity). Interacts with BAIAP2.

    Alternative splice isoforms for SHANK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SHANK1 Gene

Proteomics data for SHANK1 Gene at MOPED

Post-translational modifications for SHANK1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SHANK1 Gene

No data available for DME Specific Peptides for SHANK1 Gene

Domains for SHANK1 Gene

Gene Families for SHANK1 Gene

HGNC:
  • ANKRD :Ankyrin repeat domain containing
  • SAMD :Sterile alpha motif (SAM) domain containing

UniProtKB/Swiss-Prot:

SHAN1_HUMAN
Domain:
  • Contains 1 PDZ (DHR) domain.:
    • Q9Y566
  • Contains 1 SAM (sterile alpha motif) domain.:
    • Q9Y566
  • Contains 1 SH3 domain.:
    • Q9Y566
Family:
  • Belongs to the SHANK family.:
    • Q9Y566
Similarity:
  • Contains 6 ANK repeats.:
    • Q9Y566
genes like me logo Genes that share domains with SHANK1: view

Function for SHANK1 Gene

Molecular function for SHANK1 Gene

UniProtKB/Swiss-Prot Function: Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors via complexes with GKAP/PSD-95 and Homer, respectively, and the actin-based cytoskeleton. Plays a role in the structural and functional organization of the dendritic spine and synaptic junction

Gene Ontology (GO) - Molecular Function for SHANK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10551867
GO:0008022 protein C-terminus binding ISS --
GO:0017124 SH3 domain binding ISS --
GO:0030159 receptor signaling complex scaffold activity --
GO:0030160 GKAP/Homer scaffold activity ISS --
genes like me logo Genes that share ontologies with SHANK1: view

Phenotypes for SHANK1 Gene

genes like me logo Genes that share phenotypes with SHANK1: view

Animal Models for SHANK1 Gene

MGI Knock Outs for SHANK1:

miRNA for SHANK1 Gene

miRTarBase miRNAs that target SHANK1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SHANK1 Gene

Localization for SHANK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SHANK1 Gene

Cytoplasm. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell junction, synapse. Note=Colocalizes with alpha-latrotoxin receptor 1. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SHANK1 Gene COMPARTMENTS Subcellular localization image for SHANK1 gene
Compartment Confidence
cytoskeleton 3
cytosol 3
nucleus 3
plasma membrane 3

Gene Ontology (GO) - Cellular Components for SHANK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular NAS 10551867
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane ISS --
GO:0008328 colocalizes_with ionotropic glutamate receptor complex ISS --
GO:0016020 membrane IDA 10551867
genes like me logo Genes that share ontologies with SHANK1: view

Pathways for SHANK1 Gene

SuperPathways for SHANK1 Gene

Superpath Contained pathways
1 Circadian entrainment
genes like me logo Genes that share pathways with SHANK1: view

Pathways by source for SHANK1 Gene

1 KEGG pathway for SHANK1 Gene

Gene Ontology (GO) - Biological Process for SHANK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006461 protein complex assembly ISS --
GO:0007016 cytoskeletal anchoring at plasma membrane NAS 10551867
GO:0007616 long-term memory ISS --
GO:0008306 associative learning ISS --
GO:0030534 adult behavior IMP 22503632
genes like me logo Genes that share ontologies with SHANK1: view

Transcripts for SHANK1 Gene

Unigene Clusters for SHANK1 Gene

SH3 and multiple ankyrin repeat domains 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SHANK1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18
SP1:
SP2:
SP3: -
SP4:
SP5:
SP6:
SP7:

Relevant External Links for SHANK1 Gene

GeneLoc Exon Structure for
SHANK1
ECgene alternative splicing isoforms for
SHANK1

Expression for SHANK1 Gene

mRNA expression in normal human tissues for SHANK1 Gene

mRNA differential expression in normal tissues according to GTEx for SHANK1 Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (8.4), Brain - Amygdala (7.1), Brain - Hippocampus (6.9), Brain - Frontal Cortex (BA9) (6.2), and Brain - Cortex (5.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SHANK1 Gene

SOURCE GeneReport for Unigene cluster for SHANK1 Gene Hs.274255

mRNA Expression by UniProt/SwissProt for SHANK1 Gene

Q9Y566-SHAN1_HUMAN
Tissue specificity: Expressed in brain particularly in the amygdala, hippocampus, substantia nigra and thalamus. Isoform 2 seems to be expressed ubiquitously
genes like me logo Genes that share expressions with SHANK1: view

Orthologs for SHANK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SHANK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SHANK1 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SHANK1 36
  • 89.32 (n)
  • 93.81 (a)
SHANK1 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SHANK1 36
  • 92.29 (n)
  • 97.07 (a)
SHANK1 37
  • 65 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Shank1 36
  • 85.93 (n)
  • 94.01 (a)
Shank1 16
Shank1 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 55 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SHANK1 37
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Shank1 36
  • 85.54 (n)
  • 93.68 (a)
lizard
(Anolis carolinensis)
Reptilia SHANK1 37
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia shank1 36
  • 61.64 (n)
  • 65.94 (a)
zebrafish
(Danio rerio)
Actinopterygii SHANK1 (1 of 2) 37
  • 50 (a)
OneToMany
SHANK1 (2 of 2) 37
  • 65 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Prosap 37
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea shn-1 37
  • 29 (a)
OneToMany
C33B4.3 38
  • 44 (a)
Species with no ortholog for SHANK1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SHANK1 Gene

ENSEMBL:
Gene Tree for SHANK1 (if available)
TreeFam:
Gene Tree for SHANK1 (if available)

Paralogs for SHANK1 Gene

Paralogs for SHANK1 Gene

Selected SIMAP similar genes for SHANK1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SHANK1: view

Variants for SHANK1 Gene

Sequence variations from dbSNP and Humsavar for SHANK1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs750577 -- 50,667,721(+) GGGTC(C/T)GGCGG synonymous-codon, reference
rs750578 -- 50,667,931(+) TTGCC(A/G)GTCAG reference, synonymous-codon
rs751692 -- 50,696,083(-) TGCCT(C/T)TCGCT intron-variant
rs890864 -- 50,695,965(+) GCTGC(A/C)GGGCG intron-variant
rs890865 -- 50,710,645(+) TGGGG(G/T)TGTTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SHANK1 Gene

Variant ID Type Subtype PubMed ID
nsv828583 CNV Loss 20364138
nsv912285 CNV Loss 21882294
nsv912286 CNV Loss 21882294
esv2718744 CNV Deletion 23290073
esv2718745 CNV Deletion 23290073
esv2718746 CNV Deletion 23290073
esv2718747 CNV Deletion 23290073
nsv912287 CNV Loss 21882294

Relevant External Links for SHANK1 Gene

HapMap Linkage Disequilibrium report
SHANK1
Human Gene Mutation Database (HGMD)
SHANK1

Disorders for SHANK1 Gene

(1) University of Copenhagen DISEASES for SHANK1 Gene

genes like me logo Genes that share disorders with SHANK1: view

No data available for UniProtKB/Swiss-Prot for SHANK1 Gene

Publications for SHANK1 Gene

  1. Somatostatin receptor interacting protein defines a novel family of multidomain proteins present in human and rodent brain. (PMID: 10551867) Zitzer H. … Kreienkamp H.-J. (J. Biol. Chem. 1999) 2 3 4 23
  2. Identification of proteins interacting with the rat somatostatin receptor subtype 2. (PMID: 11087996) Kreienkamp H.J. … Richter D. (J. Physiol. Paris 2000) 3 23
  3. Shank1 mRNA: dendritic transport by kinesin and translational control by the 5'untranslated region. (PMID: 19416473) Falley K. … Kreienkamp H.J. (Traffic 2009) 3 23
  4. The insulin receptor substrate IRSp53 links postsynaptic shank1 to the small G-protein cdc42. (PMID: 12504591) Soltau M. … Kreienkamp H.-J. (Mol. Cell. Neurosci. 2002) 3 4
  5. The Shank family of scaffold proteins. (PMID: 10806096) Sheng M. … Kim E. (J. Cell Sci. 2000) 3 4

Products for SHANK1 Gene

Sources for SHANK1 Gene

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