GIGYF1 (GRB10 interacting GYF protein 1)

Download as csv Download as pdf
Log in to bookmark this gene

Bookmark This Gene

Gene Gene information from NCBI Gene database.
Download as csvDownload as pdf
Entrez ID 64599
Gene name GRB10 interacting GYF protein 1
Gene symbol GIGYF1
Synonyms (NCBI Gene)
GYF1PERQ1
Chromosome 7
Chromosome location 7q22.1
Summary This gene encodes a member of the gyf family of adaptor proteins. The encoded protein contains a gyf protein interaction domain. It binds growth factor receptor bound 10, another adaptor protein that binds activated insulin-like growth factor 1 and insuli
miRNA miRNA information provided by mirtarbase database.
2424 Show/Hide all (2424)
Download as csvDownload as pdf
miRTarBase ID miRNA Experiments Reference
MIRT025203 hsa-miR-181a-5p Sequencing 20371350
MIRT031358 hsa-miR-18a-5p Sequencing 20371350
MIRT031358 hsa-miR-18a-5p CLASH 23622248
MIRT047013 hsa-miR-204-5p CLASH 23622248
MIRT045609 hsa-miR-149-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
Download as csvDownload as pdf
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20878056, 28698298, 31439631, 32296183, 33053355, 33961781, 36950384, 38225382, 39251607
GO:0005829 Component Cytosol IBA
GO:0032991 Component Protein-containing complex IDA 20878056
GO:0048009 Process Insulin-like growth factor receptor signaling pathway IBA
GO:0048009 Process Insulin-like growth factor receptor signaling pathway IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Download as csvDownload as pdf
MIM HGNC e!Ensembl
612064 9126 ENSG00000146830
Protein Protein information from UniProt database.
Download as csvDownload as pdf
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75420
Protein name GRB10-interacting GYF protein 1 (PERQ amino acid-rich with GYF domain-containing protein 1)
Protein 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). {ECO:0000250, ECO:0000269|PubMed:1277
PDB 5NVK , 7RUQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02213 GYF 477 → 521 GYF domain Domain
Sequence 
MAAETLNFGPEWLRALSGGGSVASPPPSPAMPKYKLADYRYGREEMLALYVKENKVPEEL
QDKEFAAVLQDEPLQPLALEPLTEEEQRNFSLSVNSVAVLRLMGKGAGPPLAGTSRGRGS
TRSRGRGRGDSCFYQRSIEEGDGAFGRSPREIQRSQSWDDRGERRFEKSARRDGARCGFE
EGGAGPRKEHARSDSENWRSLREEQEEEEEGSWRLGAGPRRDGDRWRSASPDGGPRSAGW
REHGERRRKFEFDLRGDRGGCGEEEGRGGGGSSHLRRCRAPEGFEEDKDGLPEWCLDDED
EEMGTFDASGAFLPLKKGPKEPIPEEQELDFQGLEEEEEPSEGLEEEGPEAGGKELTPLP
PQEEKSSSPSPLPTLGPLWGTNGDGDETAEKEPPAAEDDIRGIQLSPGVGSSAGPPGDLE
DDEGLKHLQQEAEKLVASLQDSSLEEEQFTAAMQTQGLRHSAAATALPLSHGAARKWFYK
DPQGEIQGPFTTQEMAEWFQAGYFSMSLLVKRGCDEGFQPLGEVIKMWGRVPFAPGPSPP
PLLGNMDQERLKKQQELAAAALYQQLQHQQFLQLVSSRQLPQCALREKAALGDLTPPPPP
PPQQQQQQLTAFLQQLQALKPPRGGDQNLLPTMSRSLSVPDSGRLWDVHTSASSQSGGEA
SLWDIPINSSTQGPILEQLQLQHKFQERREVELRAKREEEERKRREEKRRQQQQEEQKRR
QEEEELFRRKHVRQQELLLKLLQQQQAVPVPPAPSSPPPLWAGLAKQGLSMKTLLELQLE
GERQLHKQPPPREPARAQAPNHRVQLGGLGTAPLNQWVSEAGPLWGGPDKSGGGSSGLGL
WEDTPKSGGSLVRGLGLKNSRSSPSLSDSYSHLSGRPIRKKTEEEEKLLKLLQGIPRPQD
GFTQWCEQMLHTLSATGSLDVPMAVAILKEVESPYDVHDYIRSCLGDTLEAKEFAKQFLE
RRAKQKASQQRQQQQEAWLSSASLQTAFQANHSTKLGPGEGSKAKRRALMLHSDPSILGY
SLHGSSGEIESVDDY
Sequence length 1035
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Download as csvDownload as pdf
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autism spectrum disorder Pathogenic rs1163941038 RCV003127444
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GIGYF1-associated disorder Likely pathogenic rs142379458 RCV003494056
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GIGYF1-related disorder Likely pathogenic rs2486260795, rs2486276957, rs2486270150, rs2131385503 RCV003406069
RCV003982672
RCV003893813
RCV003914239
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder Pathogenic rs776212530 RCV002250014
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (16)
Phenotype Name Clinical Significance Source Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 35589863, 39023044
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE — GWAS catalog 30595370
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE — GWAS catalog 32581359, 37002690
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (15)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Bipolar Disorder Bipolar Disorder GWASCAT_DG 29064472
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 19724902
★★★★★
★☆☆☆☆
Found in Text Mining only
Congestive heart failure Congestive Heart Failure BEFREE 19001357
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes mellitus Pubtator 34732801 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 34234147, 34732801, 35177841, 37072623 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Heart failure Heart Failure BEFREE 19001357
★★★★★
★☆☆☆☆
Found in Text Mining only
Hypothyroidism Hypothyroidism Pubtator 34732801 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Impaired cognition Impaired Cognition BEFREE 30376373
★★★★★
★☆☆☆☆
Found in Text Mining only
Inflammatory Bowel Diseases Inflammatory bowel disease Pubtator 34758847 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 19724902
★★★★★
★☆☆☆☆
Found in Text Mining only
Sort by:
CAMK4 2 shared diseasesAutoimmune disease, Autoimmune thyroid disease 3 shared evidence sourcesGWAS catalog (Autoimmune disease), GWAS catalog (Autoimmune thyroid disease), GWAS catalog (Neurodevelopmental disorder) Related via 2 shared diseases including Autoimmune disease, Autoimmune thyroid disease — evidence mostly GWAS catalog. RAB5C 2 shared diseasesAutoimmune disease, Autoimmune thyroid disease 2 shared evidence sourcesGWAS catalog (Autoimmune disease), GWAS catalog (Autoimmune thyroid disease) Related via 2 shared diseases including Autoimmune disease, Autoimmune thyroid disease — evidence mostly GWAS catalog. CCN4 2 shared diseasesAutoimmune disease, Autoimmune thyroid disease 2 shared evidence sourcesGWAS catalog (Autoimmune disease), GWAS catalog (Autoimmune thyroid disease) Related via 2 shared diseases including Autoimmune disease, Autoimmune thyroid disease — evidence mostly GWAS catalog. LHX2 2 shared diseasesAutoimmune disease, complex neurodevelopmental disorder 3 shared evidence sourcesGWAS catalog (Autoimmune disease), GenCC (Neurodevelopmental disorder), ClinGen (complex neurodevelopmental disorder) Related via 2 shared diseases including Autoimmune disease, complex neurodevelopmental disorder — evidence mostly GWAS catalog. C12orf42 2 shared diseasesAutoimmune disease, Autoimmune thyroid disease 2 shared evidence sourcesGWAS catalog (Autoimmune disease), GWAS catalog (Autoimmune thyroid disease) Related via 2 shared diseases including Autoimmune disease, Autoimmune thyroid disease — evidence mostly GWAS catalog.
Diabetes mellitus type 2 Linked via 4 of 5 related genesCAMK4, CCN4, LHX2, C12orf42 Asthma Linked via 2 of 5 related genesCAMK4, LHX2 Intellectual developmental disorder Linked via 2 of 5 related genesCAMK4, RAB5C Rheumatoid arthritis Linked via 2 of 5 related genesCCN4, LHX2 Major depressive disorder Linked via 2 of 5 related genesLHX2, C12orf42