HGNC Family | Ankyrin repeat domain containing (ANKRD), Sterile alpha motif (SAM) domain containing (SAMD) |
Name | SH3 and multiple ankyrin repeat domains 1 |
Description | 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] |
Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nSHANK1 encodes a postsynaptic scaffolding protein that is critical for the formation and regulation of neuronal synapses. Disruptions in SHANK1, including microdeletions and missense or truncating mutations, have been associated with neurodevelopmental disorders such as autism spectrum disorder (ASD) and schizophrenia. For example, hemizygous SHANK1 deletions segregate with ASD in families—particularly affecting males—while specific promoter variants have been linked to working memory deficits in schizophrenia."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Animal models have further substantiated these findings: Shank1 knockout mice exhibit behavioral phenotypes relevant to the core symptoms of ASD and alterations in synaptic morphology that parallel observations in human patients."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAt the molecular level, SHANK1 plays a significant role in the regulation of local protein synthesis in dendrites. Its mRNA is not only subject to sophisticated transport mechanisms along microtubules via kinesin motor complexes and RNA-binding proteins but is also tightly controlled at the translational level through complex 5′ untranslated regions containing upstream open reading frames and non-canonical initiation sites. Moreover, SHANK1 mRNA is a target of fragile X mental retardation protein (FMRP), with G-quadruplex structures in its 3′UTR mediating high-affinity FMRP binding—a mechanism that may influence synaptic plasticity and contribute to the pathophysiology seen in fragile X syndrome."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "7"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its classical postsynaptic roles, SHANK1 has been implicated in other cellular processes. Beyond the neuronal context, SHANK1 participates in the modulation of integrin activation by sequestering active Rap1 and R-Ras through conserved domains shared with other SHANK family members, thereby influencing cell migration, spreading, and invasion."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": " Furthermore, aberrant overexpression of SHANK1 in colon cancer tissues has been linked to enhanced cell survival and proliferation via the AKT/mTOR signaling pathway, suggesting that SHANK1 may also function as an oncogene in non-neuronal tissues."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nLastly, while common SHANK1 polymorphisms alone do not appear to confer increased risk for ASD in certain populations, interaction analyses among SHANK family genes indicate that synergistic effects may modulate disease susceptibility."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": " Significantly, an ASD-specific recurrent missense mutation in SHANK1 has been shown to disrupt postsynaptic signaling, including the downregulation of mGluR1-IP3R1-mediated calcium release and impairments in synaptic plasticity, directly linking SHANK1 dysfunction to the core symptoms of ASD."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Daisuke Sato, Anath C Lionel, Claire S Leblond, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SHANK1 Deletions in Males with Autism Spectrum Disorder."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2012.03.017"}], "href": "https://doi.org/10.1016/j.ajhg.2012.03.017"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22503632"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22503632"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Leonhard Lennertz, Michael Wagner, Wolfgang Wölwer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A promoter variant of SHANK1 affects auditory working memory in schizophrenia patients and in subjects clinically at risk for psychosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur Arch Psychiatry Clin Neurosci (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00406-011-0233-3"}], "href": "https://doi.org/10.1007/s00406-011-0233-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21901269"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21901269"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "A Özge Sungur, Rainer K W Schwarting, Markus Wöhr "}, {"type": "b", "children": [{"type": "t", "text": "Behavioral phenotypes and neurobiological mechanisms in the Shank1 mouse model for autism spectrum disorder: A translational perspective."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Behav Brain Res (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbr.2017.09.038"}], "href": "https://doi.org/10.1016/j.bbr.2017.09.038"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28963042"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28963042"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Halie J May, Jaehoon Jeong, Anya Revah-Politi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Med (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41436-021-01222-w"}], "href": "https://doi.org/10.1038/s41436-021-01222-w"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34113010"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34113010"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Katrin Falley, Janin Schütt, Peter Iglauer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Shank1 mRNA: dendritic transport by kinesin and translational control by the 5'untranslated region."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Traffic (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1600-0854.2009.00912.x"}], "href": "https://doi.org/10.1111/j.1600-0854.2009.00912.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19416473"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19416473"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Katrin Studtmann, Janin Olschläger-Schütt, Friedrich Buck, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A non-canonical initiation site is required for efficient translation of the dendritically localized Shank1 mRNA."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0088518"}], "href": "https://doi.org/10.1371/journal.pone.0088518"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24533096"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24533096"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Yang Zhang, Christian M Gaetano, Kathryn R Williams, et al. "}, {"type": "b", "children": [{"type": "t", "text": "FMRP interacts with G-quadruplex structures in the 3'-UTR of its dendritic target Shank1 mRNA."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "RNA Biol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1080/15476286.2014.996464"}], "href": "https://doi.org/10.1080/15476286.2014.996464"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25692235"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25692235"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Johanna Lilja, Thomas Zacharchenko, Maria Georgiadou, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SHANK proteins limit integrin activation by directly interacting with Rap1 and R-Ras."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Cell Biol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncb3487"}], "href": "https://doi.org/10.1038/ncb3487"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28263956"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28263956"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Yujiao Fu, Du Liu, Jialing Guo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Dynamic Change of Shanks Gene mRNA Expression and DNA Methylation in Epileptic Rat Model and Human Patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Neurobiol (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s12035-020-01968-5"}], "href": "https://doi.org/10.1007/s12035-020-01968-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32564287"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32564287"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Shuang Qiu, Yan Li, Ye Bai, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SHANK1 polymorphisms and SNP-SNP interactions among SHANK family: A possible cue for recognition to autism spectrum disorder in infant age."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Autism Res (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/aur.2065"}], "href": "https://doi.org/10.1002/aur.2065"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30629339"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30629339"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Yue Qin, Yasong Du, Liqiang Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A recurrent SHANK1 mutation implicated in autism spectrum disorder causes autistic-like core behaviors in mice via downregulation of mGluR1-IP3R1-calcium signaling."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Psychiatry (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41380-022-01539-1"}], "href": "https://doi.org/10.1038/s41380-022-01539-1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35388181"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35388181"}]}]}]}
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Synonyms | SYNAMON, SSTRIP, SPANK-1 |
Proteins | SHAN1_HUMAN |
NCBI Gene ID | 50944 |
API | |
Download Associations | |
Predicted Functions |
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Co-expressed Genes |
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Expression in Tissues and Cell Lines |
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SHANK1 has 4,250 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 104 datasets.
Click the + buttons to view associations for SHANK1 from the datasets below.
If available, associations are ranked by standardized value
Dataset | Summary | |
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Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of SHANK1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. | |
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray | tissue samples with high or low expression of SHANK1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset. | |
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq | tissue samples with high or low expression of SHANK1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset. | |
Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of SHANK1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
BioGPS Cell Line Gene Expression Profiles | cell lines with high or low expression of SHANK1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset. | |
BioGPS Human Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of SHANK1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset. | |
BioGPS Mouse Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of SHANK1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset. | |
CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of SHANK1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
CCLE Cell Line Gene Expression Profiles | cell lines with high or low expression of SHANK1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
CellMarker Gene-Cell Type Associations | cell types associated with SHANK1 gene from the CellMarker Gene-Cell Type Associations dataset. | |
ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of SHANK1 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
ChEA Transcription Factor Targets | transcription factors binding the promoter of SHANK1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of SHANK1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
CMAP Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of SHANK1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing SHANK1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing SHANK1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 | cellular components containing SHANK1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset. | |
COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with SHANK1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with SHANK1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
COSMIC Cell Line Gene CNV Profiles | cell lines with high or low copy number of SHANK1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
COSMIC Cell Line Gene Mutation Profiles | cell lines with SHANK1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset. | |
CTD Gene-Chemical Interactions | chemicals interacting with SHANK1 gene/protein from the curated CTD Gene-Chemical Interactions dataset. | |
CTD Gene-Disease Associations | diseases associated with SHANK1 gene/protein from the curated CTD Gene-Disease Associations dataset. | |
DepMap CRISPR Gene Dependency | cell lines with fitness changed by SHANK1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with SHANK1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. | |
DISEASES Text-mining Gene-Disease Association Evidence Scores | diseases co-occuring with SHANK1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. | |
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with SHANK1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
DisGeNET Gene-Disease Associations | diseases associated with SHANK1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
DisGeNET Gene-Phenotype Associations | phenotypes associated with SHANK1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at SHANK1 gene from the ENCODE Histone Modification Site Profiles dataset. | |
ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of SHANK1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
ENCODE Transcription Factor Targets | transcription factors binding the promoter of SHANK1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
ESCAPE Omics Signatures of Genes and Proteins for Stem Cells | PubMedIDs of publications reporting gene signatures containing SHANK1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
GDSC Cell Line Gene Expression Profiles | cell lines with high or low expression of SHANK1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset. | |
GeneRIF Biological Term Annotations | biological terms co-occuring with SHANK1 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. | |
GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing SHANK1 from the GeneSigDB Published Gene Signatures dataset. | |
GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of SHANK1 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. | |
GEO Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of SHANK1 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of SHANK1 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations | transcription factor perturbations changing expression of SHANK1 gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Viral Infections | virus perturbations changing expression of SHANK1 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
GO Biological Process Annotations 2015 | biological processes involving SHANK1 gene from the curated GO Biological Process Annotations 2015 dataset. | |
GO Biological Process Annotations 2023 | biological processes involving SHANK1 gene from the curated GO Biological Process Annotations 2023 dataset. | |
GO Biological Process Annotations 2025 | biological processes involving SHANK1 gene from the curated GO Biological Process Annotations2025 dataset. | |
GO Cellular Component Annotations 2015 | cellular components containing SHANK1 protein from the curated GO Cellular Component Annotations 2015 dataset. | |
GO Cellular Component Annotations 2023 | cellular components containing SHANK1 protein from the curated GO Cellular Component Annotations 2023 dataset. | |
GO Cellular Component Annotations 2025 | cellular components containing SHANK1 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
GO Molecular Function Annotations 2015 | molecular functions performed by SHANK1 gene from the curated GO Molecular Function Annotations 2015 dataset. | |
GO Molecular Function Annotations 2023 | molecular functions performed by SHANK1 gene from the curated GO Molecular Function Annotations 2023 dataset. | |
GO Molecular Function Annotations 2025 | molecular functions performed by SHANK1 gene from the curated GO Molecular Function Annotations 2025 dataset. | |
GTEx Tissue Gene Expression Profiles | tissues with high or low expression of SHANK1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of SHANK1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
GTEx Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of SHANK1 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
GTEx Tissue-Specific Aging Signatures | tissue samples with high or low expression of SHANK1 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
GWASdb SNP-Disease Associations | diseases associated with SHANK1 gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. | |
GWASdb SNP-Phenotype Associations | phenotypes associated with SHANK1 gene in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. | |
Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles | cell lines with high or low expression of SHANK1 gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset. | |
HPA Cell Line Gene Expression Profiles | cell lines with high or low expression of SHANK1 gene relative to other cell lines from the HPA Cell Line Gene Expression Profiles dataset. | |
HPA Tissue Gene Expression Profiles | tissues with high or low expression of SHANK1 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
HPA Tissue Protein Expression Profiles | tissues with high or low expression of SHANK1 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset. | |
HPA Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of SHANK1 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
Hub Proteins Protein-Protein Interactions | interacting hub proteins for SHANK1 from the curated Hub Proteins Protein-Protein Interactions dataset. | |
HuGE Navigator Gene-Phenotype Associations | phenotypes associated with SHANK1 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by SHANK1 gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
InterPro Predicted Protein Domain Annotations | protein domains predicted for SHANK1 protein from the InterPro Predicted Protein Domain Annotations dataset. | |
JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of SHANK1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
Kinase Library Serine Threonine Kinome Atlas | kinases that phosphorylate SHANK1 protein from the Kinase Library Serine Threonine Atlas dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of SHANK1 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles | cell lines with SHANK1 gene mutations from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset. | |
KnockTF Gene Expression Profiles with Transcription Factor Perturbations | transcription factor perturbations changing expression of SHANK1 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of SHANK1 gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
LOCATE Curated Protein Localization Annotations | cellular components containing SHANK1 protein in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset. | |
LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain SHANK1 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by SHANK1 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
MiRTarBase microRNA Targets | microRNAs targeting SHANK1 gene in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset. | |
MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of SHANK1 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
MPO Gene-Phenotype Associations | phenotypes of transgenic mice caused by SHANK1 gene mutations from the MPO Gene-Phenotype Associations dataset. | |
MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations | gene perturbations changing expression of SHANK1 gene from the MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations dataset. | |
NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of SHANK1 gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
NURSA Protein Complexes | protein complexs containing SHANK1 protein recovered by IP-MS from the NURSA Protein Complexes dataset. | |
NURSA Protein-Protein Interactions | interacting proteins for SHANK1 from the NURSA Protein-Protein Interactions dataset. | |
PANTHER Pathways | pathways involving SHANK1 protein from the PANTHER Pathways dataset. | |
Pathway Commons Protein-Protein Interactions | interacting proteins for SHANK1 from the Pathway Commons Protein-Protein Interactions dataset. | |
PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of SHANK1 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations | gene perturbations changing expression of SHANK1 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
PFOCR Pathway Figure Associations 2023 | pathways involving SHANK1 protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
PFOCR Pathway Figure Associations 2024 | pathways involving SHANK1 protein from the Wikipathways PFOCR 2024 dataset. | |
Reactome Pathways 2024 | pathways involving SHANK1 protein from the Reactome Pathways 2024 dataset. | |
Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles | cell types and tissues with high or low DNA methylation of SHANK1 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset. | |
Roadmap Epigenomics Cell and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of SHANK1 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue Gene Expression Profiles dataset. | |
Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at SHANK1 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of SHANK1 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of SHANK1 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
SynGO Synaptic Gene Annotations | synaptic terms associated with SHANK1 gene from the SynGO Synaptic Gene Annotations dataset. | |
TargetScan Predicted Conserved microRNA Targets | microRNAs regulating expression of SHANK1 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset. | |
TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of SHANK1 gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset. | |
TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of SHANK1 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
TISSUES Curated Tissue Protein Expression Evidence Scores | tissues with high expression of SHANK1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of SHANK1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
TISSUES Experimental Tissue Protein Expression Evidence Scores | tissues with high expression of SHANK1 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of SHANK1 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with SHANK1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with SHANK1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
WikiPathways Pathways 2024 | pathways involving SHANK1 protein from the WikiPathways Pathways 2024 dataset. | |