GIGYF1 (GRB10 interacting GYF protein 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2424)
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
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (5)
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.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
612064 9126 ENSG00000146830
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Causal Diseases (4)
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)
Show/Hide Unknown Diseases (16)
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.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (9)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Diabetes Mellitus Associate 34732801
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Associate 34234147, 34732801, 35177841, 37072623
★★★★★
★☆☆☆☆
Found in Text Mining only
Hypothyroidism Associate 34732801
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases Associate 34758847
★★★★★
★☆☆☆☆
Found in Text Mining only
Male sterility due to Y chromosome deletions Associate 34234147
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasm Metastasis Inhibit 37484805
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 37484805
★★★★★
★☆☆☆☆
Found in Text Mining only
Neurologic Manifestations Associate 33053355
★★★★★
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Associate 37484805
★★★★★
★☆☆☆☆
Found in Text Mining only