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Aliases for SHANK1 Gene

Aliases for SHANK1 Gene

  • SH3 And Multiple Ankyrin Repeat Domains 1 2 3 5
  • Somatostatin Receptor-Interacting Protein 2 3 4
  • SSTR-Interacting Protein 3 4
  • SSTRIP 3 4
  • SH3 And Multiple Ankyrin Repeat Domains Protein 1 3
  • SPANK-1 3
  • Synamon 3
  • Shank1 4

External Ids for SHANK1 Gene

Previous GeneCards Identifiers for SHANK1 Gene

  • GC19M051793
  • GC19M051526
  • GC19M055841
  • GC19M055856
  • GC19M055818
  • GC19M051165
  • GC19M047499

Summaries for SHANK1 Gene

Entrez Gene Summary for SHANK1 Gene

  • This gene encodes a member of the SHANK (SH3 domain and ankyrin repeat containing) family of proteins. Members of this family act as scaffold proteins that are required for the development and function of neuronal synapses. Deletions in this gene may be associated with autism spectrum disorder in males. [provided by RefSeq, Apr 2016]

GeneCards Summary for SHANK1 Gene

SHANK1 (SH3 And Multiple Ankyrin Repeat Domains 1) is a Protein Coding gene. Diseases associated with SHANK1 include Autism Spectrum Disorder and Diabetic Encephalopathy. Among its related pathways are Protein-protein interactions at synapses and Transmission across Chemical Synapses. GO annotations related to this gene include identical protein binding and protein C-terminus binding. An important paralog of this gene is SHANK3.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SHANK1 Gene

Genomics for SHANK1 Gene

Regulatory Elements for SHANK1 Gene

Enhancers for SHANK1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F050720 1.3 FANTOM5 ENCODE 4.2 -3.6 -3574 5.7 HDGF PKNOX1 CREB3L1 ARNT SIN3A ZNF2 ZNF766 FOS KLF13 ZNF263 CLEC11A C19orf48 GPR32 SNORD88A SNORD88B SNORD88C LINC01869 KLK1 KLK15 SPACA6P-AS
GH19F050721 1.3 FANTOM5 ENCODE 4.1 +1.4 1368 0.5 MAZ RFX1 SP3 BHLHE40 ZNF316 GLIS2 GLIS1 ZBTB26 EMSY TCF7L2 SYT3 LRRC4B ASPDH SHANK1 KCNC3 PIR41386
GH19F050695 0.6 FANTOM5 3.9 +24.4 24410 0.4 SP3 NRF1 MIER2 REST ZNF48 ZBTB7A GABPA ELK1 POLR2A MXD3 ASPDH SYT3 KCNC3 LRRC4B SHANK1 KLK6 PIR41386
GH19F050507 0.9 FANTOM5 1.5 +212.6 212639 0.2 HIC1 ZFHX2 ZFP3 CDC5L FOS EGR2 ASPDH KLKP1 C19orf81 KLK4 ACPT SHANK1 SYT3 JOSD2 LOC100506114
GH19F050508 0.6 FANTOM5 1.3 +210.8 210818 0.3 ZNF664 POLR2A ZEB1 EGR2 SYT3 SHANK1 KLK6 JOSD2 LOC100506114
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SHANK1 on UCSC Golden Path with GeneCards custom track

Promoters for SHANK1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001818563 683 1801 KLF1 KLF17 ZNF316 ZFHX2 GLIS2 PATZ1 KLF8 TCF7L2 EZH2 EGR2

Genomic Location for SHANK1 Gene

Chromosome:
19
Start:
50,659,264 bp from pter
End:
50,719,783 bp from pter
Size:
60,520 bases
Orientation:
Minus strand

Genomic View for SHANK1 Gene

Genes around SHANK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SHANK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SHANK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

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 & Families for SHANK1 Gene

Suggested Antigen Peptide Sequences for SHANK1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y566

UniProtKB/Swiss-Prot:

SHAN1_HUMAN :
  • Contains 1 PDZ (DHR) domain.
  • Belongs to the SHANK family.
  • Contains 6 ANK repeats.
Domain:
  • Contains 1 PDZ (DHR) domain.
  • Contains 1 SAM (sterile alpha motif) domain.
  • Contains 1 SH3 domain.
Family:
  • Belongs to the SHANK family.
Similarity:
  • Contains 6 ANK repeats.
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 IEA --
GO:0030160 GKAP/Homer scaffold activity ISS --
genes like me logo Genes that share ontologies with SHANK1: view
genes like me logo Genes that share phenotypes with SHANK1: view

Animal Models for SHANK1 Gene

MGI Knock Outs for SHANK1:

Animal Model Products

miRNA for SHANK1 Gene

miRTarBase miRNAs that target SHANK1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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
nucleus 4
plasma membrane 4
cytosol 3
cytoskeleton 2

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 IEA,ISS --
GO:0008328 colocalizes_with ionotropic glutamate receptor complex ISS --
GO:0014069 postsynaptic density IEA,ISS --
genes like me logo Genes that share ontologies with SHANK1: view

Pathways & Interactions for SHANK1 Gene

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

Pathways by source 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:0007399 nervous system development IEA --
GO:0007616 long-term memory ISS --
GO:0008306 associative learning ISS --
genes like me logo Genes that share ontologies with SHANK1: view

No data available for SIGNOR curated interactions for SHANK1 Gene

Transcripts for SHANK1 Gene

Unigene Clusters for SHANK1 Gene

SH3 and multiple ankyrin repeat domains 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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) (x8.4), Brain - Amygdala (x7.1), Brain - Hippocampus (x6.9), Brain - Frontal Cortex (BA9) (x6.2), and Brain - Cortex (x5.3).

Protein differential expression in normal tissues from HIPED for SHANK1 Gene

This gene is overexpressed in Cerebrospinal fluid (35.3), Urine (12.8), and Breast (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SHANK1 Gene



NURSA nuclear receptor signaling pathways regulating expression of SHANK1 Gene:

SHANK1

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 expression patterns with SHANK1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for SHANK1 Gene

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 35
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SHANK1 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SHANK1 34 35
  • 92.29 (n)
cow
(Bos Taurus)
Mammalia SHANK1 34 35
  • 89.32 (n)
mouse
(Mus musculus)
Mammalia Shank1 34 16 35
  • 85.93 (n)
rat
(Rattus norvegicus)
Mammalia Shank1 34
  • 85.54 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 55 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia SHANK1 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia shank1 34
  • 61.64 (n)
zebrafish
(Danio rerio)
Actinopterygii SHANK1 (2 of 2) 35
  • 65 (a)
OneToMany
SHANK1 (1 of 2) 35
  • 50 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Prosap 35
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C33B4.3 36
  • 44 (a)
shn-1 35
  • 29 (a)
OneToMany
Species where no ortholog for SHANK1 was found in the sources mined by GeneCards:
  • 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

(3) 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
rs200040610 A colorectal cancer sample 50,662,375(+) GGGTC(C/T)GGAAG reference, missense
VAR_036541 A colorectal cancer sample
rs10404678 -- 50,718,043(+) CCCCC(A/C)ACACC intron-variant, upstream-variant-2KB
rs10406993 -- 50,689,889(+) TCCCA(A/G)GAACC intron-variant
rs10409337 -- 50,676,548(+) GAGTG(A/G)GTAGG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1801n106 CNV deletion 24896259
esv2718744 CNV deletion 23290073
esv2718745 CNV deletion 23290073
esv2718746 CNV deletion 23290073
esv2718747 CNV deletion 23290073
esv3574587 CNV gain 25503493
esv3583462 CNV loss 25503493
nsv1071941 CNV deletion 25765185
nsv1140251 OTHER inversion 24896259
nsv579950 CNV loss 21841781
nsv828583 CNV loss 20364138
nsv953605 CNV deletion 24416366

Variation tolerance for SHANK1 Gene

Gene Damage Index Score: 5.63; 72.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SHANK1 Gene

Human Gene Mutation Database (HGMD)
SHANK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SHANK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SHANK1 Gene

Disorders for SHANK1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SHANK1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
autism spectrum disorder
  • asd
diabetic encephalopathy
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SHANK1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SHANK1
genes like me logo Genes that share disorders with SHANK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 22 64
  2. Shank1 mRNA: dendritic transport by kinesin and translational control by the 5'untranslated region. (PMID: 19416473) Falley K. … Kreienkamp H.J. (Traffic 2009) 3 22 64
  3. Differential expression and dendritic transcript localization of Shank family members: identification of a dendritic targeting element in the 3' untranslated region of Shank1 mRNA. (PMID: 15121189) BAPckers T.M. … Kreienkamp H.J. (Mol. Cell. Neurosci. 2004) 3 22 64
  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 64
  5. The Shank family of scaffold proteins. (PMID: 10806096) Sheng M. … Kim E. (J. Cell Sci. 2000) 3 4 64

Products for SHANK1 Gene

Sources for SHANK1 Gene

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