protein
GRB10-interacting GYF protein 1
Gene
GIGYF1
Organism
Homo sapiens(9606)
Length
1035 aa
Mass
114,601 Da
GIGYF1 (GRB10-interacting GYF protein 1) is a 1,035-amino acid protein encoded by the GIGYF1 gene in humans (UniProt: O75420). The protein functions in the regulation of tyrosine kinase receptor signaling, potentially acting cooperatively with GRB10 to modulate receptor-mediated signaling cascades. It may enhance IGF1 receptor phosphorylation in response to IGF1 stimulation and facilitate phosphorylation of downstream signaling molecules including IRS1 and SHC1.
GIGYF1 is involved in growth factor signaling pathways, particularly those mediated by insulin-like growth factor 1 (IGF1) and related receptor tyrosine kinases. These pathways are critical for cell proliferation, differentiation, and metabolism. The protein's interaction with GRB10 suggests a role in fine-tuning growth-related signal transduction.
GIGYF1 is classified as SFARI Category 1 (SFARI Cat 1), indicating it is a high-confidence autism spectrum disorder (ASD) risk gene supported by strong genetic evidence. This classification suggests the protein may play an important role in neurodevelopmental processes relevant to autism pathogenesis, though the specific molecular mechanisms linking GIGYF1 dysfunction to ASD phenotypes require further investigation.
Generated from the curated entity record below. May contain errors — verify against source links.
Proteomics Evidence · AD
↓ Down in ADP3
-0.333
P2
not detected
S2
not detected
S3
not detected
Mean log₂FC across detected fractions: -0.3328 (1 of 4 fractions detected)
Human post-mortem AD brain vs age-matched controls, TMT-labeled, 4 subcellular fractions (P2, P3, S2, S3), DDA proteomics.
Genetic Evidence · ASD
High confidence — strong genetic evidence from multiple studies
Source: SFARI Gene database · gene.sfari.org
This protein is implicated in both ASD and Alzheimer's Disease. View all cross-disease proteins →
Related Publications
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Dujardin Simon et al.Nature medicine2020PMID 32572268Deep Multilayer Brain Proteomics Identifies Molecular Networks in Alzheimer's Disease Progression.
Bai Bing et al.Neuron2020PMID 31926610A Multi-network Approach Identifies Protein-Specific Co-expression in Asymptomatic and Symptomatic Alzheimer's Disease.
Seyfried Nicholas T et al.Cell systems2017PMID 27989508Large-scale deep multi-layer analysis of Alzheimer's disease brain reveals strong proteomic disease-related changes not observed at the RNA level.
Johnson Erik C B et al.Nature neuroscience2022PMID 35115731Organization and regulation of gene transcription.
Cramer PatrickNature2019PMID 31462772Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
May act cooperatively with GRB10 to regulate tyrosine kinase receptor signaling. May increase IGF1 receptor phosphorylation under IGF1 stimulation as well as phosphorylation of IRS1 and SHC1 (By similarity)
Sources
Last updated 5/8/2026, 1:06:37 AM