GIGYF1 (GRB10 interacting GYF protein 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64599
Gene name Gene Name - the full gene name approved by the HGNC.
GRB10 interacting GYF protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GIGYF1
Synonyms (NCBI Gene) Gene synonyms aliases
GYF1, PERQ1
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
612064 9126 ENSG00000146830
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hypothyroidism Hypothyroidism N/A N/A GWAS
Neurodevelopmental Disorders complex neurodevelopmental disorder, neurodevelopmental disorder N/A N/A GenCC
Schizophrenia Schizophrenia N/A N/A GWAS
Show/Hide Text Mining Associations (9)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Diabetes Mellitus Associate 34732801
Diabetes Mellitus Type 2 Associate 34234147, 34732801, 35177841, 37072623
Hypothyroidism Associate 34732801
Inflammatory Bowel Diseases Associate 34758847
Male sterility due to Y chromosome deletions Associate 34234147
Neoplasm Metastasis Inhibit 37484805
Neoplasms Associate 37484805
Neurologic Manifestations Associate 33053355
Stomach Neoplasms Associate 37484805