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Aliases for GIGYF1 Gene

Aliases for GIGYF1 Gene

  • GRB10 Interacting GYF Protein 1 2 3 5
  • PERQ Amino Acid-Rich With GYF Domain-Containing Protein 1 3 4
  • PERQ1 3 4
  • Postmeiotic Segregation Increased 2-Like 12 3
  • PERQ Amino Acid Rich, With GYF Domain 1 2
  • GRB10-Interacting GYF Protein 1 3
  • GYF Domain Containing 1 2
  • GYF1 3
  • CDS2 4

External Ids for GIGYF1 Gene

Previous HGNC Symbols for GIGYF1 Gene

  • PERQ1

Previous GeneCards Identifiers for GIGYF1 Gene

  • GC07M100116
  • GC07M100277
  • GC07M094907

Summaries for GIGYF1 Gene

Entrez Gene Summary for GIGYF1 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 insulin receptors and regulates receptor signaling. [provided by RefSeq, Apr 2017]

GeneCards Summary for GIGYF1 Gene

GIGYF1 (GRB10 Interacting GYF Protein 1) is a Protein Coding gene. An important paralog of this gene is GIGYF2.

UniProtKB/Swiss-Prot for GIGYF1 Gene

  • 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).

Additional gene information for GIGYF1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GIGYF1 Gene

Genomics for GIGYF1 Gene

GeneHancer (GH) Regulatory Elements for GIGYF1 Gene

Promoters and enhancers for GIGYF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I100690 Enhancer 1.4 Ensembl ENCODE dbSUPER 577.5 +0.6 591 5.7 HDGF PKNOX1 CLOCK ARID4B SIN3A ZNF48 YY1 ZNF121 GLIS2 E2F8 GIGYF1 ZAN ZNF3 TRIM4 ZSCAN21 MOSPD3 STAG3L5P SRRT AP4M1 PCOLCE
GH07I100691 Promoter/Enhancer 0.7 EPDnew dbSUPER 550.8 +4.9 4875 0.1 GIGYF1 GC07M100687 PIR58923
GH07I100672 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 84.9 +17.3 17276 8.6 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF548 GNB2 GC07P100676 TRIM4 ZNF3 GIGYF1 SRRT PCOLCE STAG3L5P PPP1R35 ENSG00000242798
GH07I100475 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 83.4 +216.5 216513 4.4 HDGF PKNOX1 FOXA2 SMAD1 ARNT ZFP64 ARID4B SIN3A FEZF1 ZNF2 TSC22D4 ZSCAN25 SRRT TRIM4 ZNF655 GIGYF1 ZNF3 ENSG00000242798 STAG3L5P PILRA
GH07I100427 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 64 +261.1 261069 10.8 CLOCK ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 PPP1R35 MEPCE PIR54054 ZCWPW1 ZSCAN25 TRIM4 SRRT GIGYF1 ZNF3 PILRA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GIGYF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GIGYF1 gene promoter:

Genomic Locations for GIGYF1 Gene

Genomic Locations for GIGYF1 Gene
chr7:100,679,507-100,694,268
(GRCh38/hg38)
Size:
14,762 bases
Orientation:
Minus strand
chr7:100,277,130-100,287,071
(GRCh37/hg19)

Genomic View for GIGYF1 Gene

Genes around GIGYF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GIGYF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GIGYF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GIGYF1 Gene

Proteins for GIGYF1 Gene

  • Protein details for GIGYF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75420-GGYF1_HUMAN
    Recommended name:
    GRB10-interacting GYF protein 1
    Protein Accession:
    O75420
    Secondary Accessions:
    • Q6Y7W7
    • Q8WZ38

    Protein attributes for GIGYF1 Gene

    Size:
    1035 amino acids
    Molecular mass:
    114601 Da
    Quaternary structure:
    • Interacts with GRB10. This transient binding is increased under IGF1 stimulation and leads to recruitment of GIGYF1/GRB10 complex to IGF1 receptor (By similarity).
    SequenceCaution:
    • Sequence=AAC78792.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAL55738.1; Type=Frameshift; Positions=784, 856; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GIGYF1 Gene

neXtProt entry for GIGYF1 Gene

Post-translational modifications for GIGYF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GIGYF1 Gene

Domains & Families for GIGYF1 Gene

Gene Families for GIGYF1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GIGYF1 Gene

Suggested Antigen Peptide Sequences for GIGYF1 Gene

Graphical View of Domain Structure for InterPro Entry

O75420

UniProtKB/Swiss-Prot:

GGYF1_HUMAN :
  • The GYF domain interacts with GRB10.
  • Belongs to the GIGYF family.
Domain:
  • The GYF domain interacts with GRB10.
Family:
  • Belongs to the GIGYF family.
genes like me logo Genes that share domains with GIGYF1: view

Function for GIGYF1 Gene

Molecular function for GIGYF1 Gene

UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for GIGYF1 Gene

Gene Ontology (GO) - Molecular Function for GIGYF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20878056
genes like me logo Genes that share ontologies with GIGYF1: view
genes like me logo Genes that share phenotypes with GIGYF1: view

Animal Model Products

miRNA for GIGYF1 Gene

miRTarBase miRNAs that target GIGYF1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GIGYF1 Gene

Localization for GIGYF1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GIGYF1 gene
Compartment Confidence
nucleus 3
cytoskeleton 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubules (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GIGYF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043234 protein complex IDA 20878056
genes like me logo Genes that share ontologies with GIGYF1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GIGYF1 Gene

Pathways & Interactions for GIGYF1 Gene

SuperPathways for GIGYF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GIGYF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0048009 insulin-like growth factor receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with GIGYF1: view

No data available for Pathways by source and SIGNOR curated interactions for GIGYF1 Gene

Drugs & Compounds for GIGYF1 Gene

No Compound Related Data Available

Transcripts for GIGYF1 Gene

Unigene Clusters for GIGYF1 Gene

GRB10 interacting GYF protein 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GIGYF1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for GIGYF1 Gene

GeneLoc Exon Structure for
GIGYF1
ECgene alternative splicing isoforms for
GIGYF1

Expression for GIGYF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GIGYF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GIGYF1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (23.7) and Adrenal (14.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GIGYF1 Gene



Protein tissue co-expression partners for GIGYF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GIGYF1 Gene:

GIGYF1

SOURCE GeneReport for Unigene cluster for GIGYF1 Gene:

Hs.414396

Evidence on tissue expression from TISSUES for GIGYF1 Gene

  • Liver(4.1)
genes like me logo Genes that share expression patterns with GIGYF1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GIGYF1 Gene

Orthologs for GIGYF1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GIGYF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GIGYF1 34 33
  • 99.26 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GIGYF1 34 33
  • 90 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GIGYF1 34 33
  • 89.17 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gigyf1 33
  • 86.98 (n)
mouse
(Mus musculus)
Mammalia Gigyf1 34 16 33
  • 86.93 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GIGYF1 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GIGYF1 34
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GIGYF1 34
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gigyf1 33
  • 64.58 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC568584 33
  • 65.15 (n)
GIGYF1 (1 of 3) 34
  • 58 (a)
OneToMany
GIGYF1 (2 of 3) 34
  • 56 (a)
OneToMany
GIGYF1 (3 of 3) 34
  • 50 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG11148 34
  • 14 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMY2 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 23 (a)
OneToMany
Species where no ortholog for GIGYF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GIGYF1 Gene

ENSEMBL:
Gene Tree for GIGYF1 (if available)
TreeFam:
Gene Tree for GIGYF1 (if available)

Paralogs for GIGYF1 Gene

Paralogs for GIGYF1 Gene

(2) SIMAP similar genes for GIGYF1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GIGYF1: view

Variants for GIGYF1 Gene

Sequence variations from dbSNP and Humsavar for GIGYF1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs199624326 likely-benign, not provided 100,685,330(-) T/A intron_variant
rs1000185194 -- 100,692,260(-) C/A genic_upstream_transcript_variant, intron_variant
rs1000464705 -- 100,680,397(-) A/G 3_prime_UTR_variant
rs1000522463 -- 100,693,263(-) A/T genic_upstream_transcript_variant, intron_variant
rs1001059743 -- 100,688,586(-) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for GIGYF1 Gene

Variant ID Type Subtype PubMed ID
esv2734888 CNV deletion 23290073
nsv470381 CNV loss 18288195
nsv607933 CNV gain 21841781
nsv8184 CNV loss 18304495
nsv819414 CNV loss 19587683
nsv831072 CNV loss 17160897
nsv951386 CNV deletion 24416366
nsv951387 CNV deletion 24416366

Variation tolerance for GIGYF1 Gene

Residual Variation Intolerance Score: 0.952% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.74; 83.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GIGYF1 Gene

Human Gene Mutation Database (HGMD)
GIGYF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GIGYF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GIGYF1 Gene

Disorders for GIGYF1 Gene

Additional Disease Information for GIGYF1

No disorders were found for GIGYF1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GIGYF1 Gene

Publications for GIGYF1 Gene

  1. Two novel proteins that are linked to insulin-like growth factor (IGF-I) receptors by the Grb10 adapter and modulate IGF-I signaling. (PMID: 12771153) Giovannone B … Smith RJ (The Journal of biological chemistry 2003) 2 3 4 58
  2. Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes. (PMID: 9799793) Glöckner G … Rosenthal A (Genome research 1998) 2 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 58
  5. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta GD … Pelletier L (Cell 2015) 3 58

Products for GIGYF1 Gene

Sources for GIGYF1 Gene

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