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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SHANK1
SH3 and multiple ankyrin repeat domains 1
Chromosome 19 Β· 19q13.33
NCBI Gene: 50944Ensembl: ENSG00000161681.17HGNC: HGNC:15474UniProt: H9KV90
49PubMed Papers
20Diseases
0Drugs
19Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
membraneplasma membraneadult behaviorprotein bindingIntellectual disabilityNeurodevelopmental disorderautismgenetic disorder
✦AI Summary

SHANK1 encodes a postsynaptic scaffolding protein that functions as a critical adapter in excitatory synapses, interconnecting glutamate receptors with the actin cytoskeleton and organizing dendritic spine structure 1. The protein serves as a core component of the postsynaptic density (PSD), facilitating synaptic maturation and proper neural circuit function through protein-protein interactions 2. SHANK1 operates within the Neurexin-Neuroligin-Shank pathway, which is essential for synapse formation, maturation, and maintenance 2. Functionally, SHANK1 contains a C-terminal domain that binds to Homer1, a critical linker protein, and proper synaptic localization is required for normal function 3. Clinically, de novo truncating mutations in SHANK1 are associated with autism spectrum disorders and broader neurodevelopmental disorders 43. These mutations disrupt protein-protein networks in dendritic spines and impair synaptic localization 3. Mouse models demonstrate that Shank1 knockout produces ASD-relevant behavioral phenotypes including deficits in social behavior, communication, and repetitive behaviors 5. Additionally, SHANK1 has been implicated in other conditions including Alzheimer's disease through brain iron regulation 6 and unexpectedly shows oncogenic properties in colon cancer 7, suggesting diverse cellular functions beyond synaptic scaffolding.

Sources cited
1
SHANK1 is a postsynaptic scaffolding protein present at glutamatergic synapses in the CNS
PMID: 28179641
2
SHANK proteins function as core components of the postsynaptic density and operate within the NRXN-NLGN-SHANK pathway
PMID: 26335738
3
Truncating SHANK1 variants lose binding with Homer1 and show impaired synaptic localization, associated with neurodevelopmental disorders
PMID: 34113010
4
De novo mutations in SHANK1 are found in autism spectrum disorder patients
PMID: 27824329
5
Shank1 knockout mouse models display ASD-relevant behavioral phenotypes
PMID: 28963042
6
SHANK1 is associated with brain iron regulation and Alzheimer's disease
PMID: 38956042
7
SHANK1 shows abnormally high expression in colon cancer and has oncogenic properties
PMID: 32356303
Disease Associationsβ“˜20
Intellectual disabilityOpen Targets
0.55Moderate
Neurodevelopmental disorderOpen Targets
0.51Moderate
autismOpen Targets
0.51Moderate
genetic disorderOpen Targets
0.47Moderate
complex neurodevelopmental disorderOpen Targets
0.44Moderate
autism spectrum disorderOpen Targets
0.37Weak
alcohol drinkingOpen Targets
0.13Weak
Hearing impairmentOpen Targets
0.12Weak
multiple congenital anomalies/dysmorphic syndromeOpen Targets
0.12Weak
non-small cell lung carcinomaOpen Targets
0.08Suggestive
chronic lymphocytic leukemiaOpen Targets
0.08Suggestive
Young adult-onset ParkinsonismOpen Targets
0.05Suggestive
Cognitive impairmentOpen Targets
0.05Suggestive
atypical juvenile parkinsonismOpen Targets
0.05Suggestive
spinocerebellar ataxia type 12Open Targets
0.05Suggestive
Rapid-onset dystonia-parkinsonismOpen Targets
0.04Suggestive
Basal ganglia calcificationOpen Targets
0.04Suggestive
bilateral striopallidodentate calcinosisOpen Targets
0.04Suggestive
X-linked spinocerebellar ataxia type 4Open Targets
0.04Suggestive
Huntington disease-like syndrome due to C9ORF72 expansionsOpen Targets
0.04Suggestive
Pathogenic Variants19
NM_016148.5(SHANK1):c.2137C>T (p.Arg713Ter)Pathogenic
not provided|Intellectual disability
β˜…β˜…β˜†β˜†2025β†’ Residue 713
NM_016148.5(SHANK1):c.2149C>T (p.Arg717Ter)Pathogenic
See cases|SHANK1-related Neurodevelopmental Disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 717
NM_016148.5(SHANK1):c.3142C>T (p.Arg1048Ter)Pathogenic
not provided|SHANK1-associated disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 1048
NM_016148.5(SHANK1):c.3894C>A (p.Tyr1298Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 1298
NM_016148.5(SHANK1):c.2741_2742del (p.Val914fs)Likely pathogenic
Complex neurodevelopmental disorder
β˜…β˜†β˜†β˜†2025β†’ Residue 914
NM_016148.5(SHANK1):c.1366del (p.Ala456fs)Pathogenic
Neurodevelopmental disorder
β˜…β˜†β˜†β˜†2025β†’ Residue 456
NM_016148.5(SHANK1):c.4714G>T (p.Glu1572Ter)Likely pathogenic
Intellectual disability
β˜…β˜†β˜†β˜†2025β†’ Residue 1572
NM_016148.5(SHANK1):c.1207C>T (p.Arg403Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 403
NM_016148.5(SHANK1):c.1198C>T (p.Arg400Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 400
NM_016148.5(SHANK1):c.4663del (p.Asp1555fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 1555
NM_016148.5(SHANK1):c.5531dup (p.Pro1847fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 1847
NM_016148.5(SHANK1):c.4337_4343dup (p.Thr1451fs)Likely pathogenic
Neurodevelopmental disorder
β˜…β˜†β˜†β˜†2024β†’ Residue 1451
NM_016148.5(SHANK1):c.3595_3599del (p.Ser1199fs)Pathogenic
SHANK1-related Neurodevelopmental Disorder
β˜…β˜†β˜†β˜†2024β†’ Residue 1199
NM_016148.5(SHANK1):c.4407del (p.His1470fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 1470
NM_016148.5(SHANK1):c.733C>T (p.Arg245Trp)Likely pathogenic
SHANK1-related autism
β˜…β˜†β˜†β˜†2023β†’ Residue 245
NM_016148.5(SHANK1):c.1776G>A (p.Trp592Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 592
NM_016148.5(SHANK1):c.1882_1883del (p.Lys628fs)Likely pathogenic
Intellectual disability
β˜…β˜†β˜†β˜†2022β†’ Residue 628
NM_016148.5(SHANK1):c.5709del (p.Asp1903fs)Likely pathogenic
Intellectual disability
β˜…β˜†β˜†β˜†2021β†’ Residue 1903
NM_016148.5(SHANK1):c.2397delinsAA (p.Gln800fs)Likely pathogenic
SHANK1-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 800
View on ClinVar β†—
Related Genes
ARHGEF7Protein interaction96%GRM1Protein interaction90%HOMER3Protein interaction90%HOMER2Protein interaction90%HOMER1Protein interaction90%DLG2Protein interaction88%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
49%
Ovary
8%
Heart
2%
Liver
1%
Lung
1%
Gene Interaction Network
Click a node to explore
SHANK1ARHGEF7GRM1HOMER3HOMER2HOMER1DLG2
PROTEIN STRUCTURE
Preparing viewer…
PDB6YX0 Β· 1.57 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.38Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.29 [0.22–0.38]
RankingsWhere SHANK1 stands among ~20K protein-coding genes
  • #9,015of 20,598
    Most Researched49
  • #2,246of 5,498
    Most Pathogenic Variants19
  • #1,858of 17,882
    Most Constrained (LOEUF)0.38 Β· top quartile
Genes detectedSHANK1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
De novo genic mutations among a Chinese autism spectrum disorder cohort.
PMID: 27824329
Nat Commun Β· 2016
1.00
2
SHANK proteins: roles at the synapse and in autism spectrum disorder.
PMID: 28179641
Nat Rev Neurosci Β· 2017
0.90
3
SHANK1 and autism spectrum disorders.
PMID: 26335738
Sci China Life Sci Β· 2015
0.80
4
Whole-exome sequencing identifies protein-coding variants associated with brain iron in 29,828 individuals.
PMID: 38956042
Nat Commun Β· 2024
0.70
5
Behavioral phenotypes and neurobiological mechanisms in the Shank1 mouse model for autism spectrum disorder: A translational perspective.
PMID: 28963042
Behav Brain Res Β· 2018
0.60