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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GIGYF1 Gene

protein-coding   GIFtS: 51
GCID: GC07M100277

GRB10 interacting GYF protein 1

(Previous names: PERQ amino acid rich, with GYF domain 1 )
(Previous symbol: PERQ1)
 Explore 2 diseases affiliated with
GIGYF1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for GIGYF1    

Aliases
for GIGYF1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
GRB10 Interacting GYF Protein 11 2     GYF Domain Containing 12
PERQ11 2 3     PERQ Amino Acid-Rich With GYF Domain-Containing Protein 12
GYF11 2     Postmeiotic Segregation Increased 2-Like 122
PERQ Amino Acid Rich, With GYF Domain 11 2     CDS23
GRB10-Interacting GYF Protein 12 3     

External Ids:    HGNC: 91261   Entrez Gene: 645992   Ensembl: ENSG000001468307   OMIM: 6120645   UniProtKB: O754203   

Export aliases for GIGYF1 gene to outside databases

Previous GC identifers: GC07M100116 GC07M094907


Summaries
for GIGYF1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: PERQ1_HUMAN, O75420
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)




Genomic Views
for GIGYF1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007933.15  NT_079595.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GIGYF1 gene promoter:
         ER-alpha   ISGF-3   AP-1   Brachyury   ATF-2   CREB   POU2F1   POU2F1a   deltaCREB   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): GIGYF1 promoter sequence
   Search SABiosciences Chromatin IP Primers for GIGYF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GIGYF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q22   Ensembl cytogenetic band:  7q22.1   HGNC cytogenetic band: 7q22

GIGYF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GIGYF1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M100277:  view genomic region     (about GC identifiers)

Start:
 100,277,130 bp from pter      End:
 100,287,071 bp from pter
Size:
 9,942 bases      Orientation:
 minus strand

1 alternative location:
Chr7-,CRA_TCAG 99,636,735-99,646,475     

Proteins
for GIGYF1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: PERQ1_HUMAN, O75420 (See protein sequence)
Recommended Name: PERQ amino acid-rich with GYF domain-containing protein 1  
Size: 1035 amino acids; 114601 Da
Subunit: Interacts with GRB10. This transient binding is increased under IGF1 stimulation and leads to recruitment of
GIGYF1/GRB10 complex to IGF1 receptor (By similarity)
Sequence caution: Sequence=AAC78792.1; Type=Erroneous gene model prediction; Sequence=AAL55738.1; Type=Frameshift;
Positions=784, 856;
Secondary accessions: Q6Y7W7 Q8WZ38

Explore the universe of human proteins at neXtProt for GIGYF1: NX_O75420

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75420

    • GIGYF1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_072096.2  
    ENSEMBL proteins: 
     ENSP00000275732  

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    Protein Domains /
    Families
    for GIGYF1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    GIGYF1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR003169 GYF

    Graphical View of Domain Structure for InterPro Entry O75420

    ProtoNet protein and cluster: O75420

    1 Blocks protein family: IPB003169 CD2-binding protein

    UniProtKB/Swiss-Prot: PERQ1_HUMAN, O75420
    Domain: The GYF domain interacts with GRB10 (By similarity)
    Similarity: Belongs to the PERQ family
    Similarity: Contains 1 GYF domain


    Function
    for GIGYF1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: PERQ1_HUMAN, O75420
    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)

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----


    GIGYF1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for GIGYF1:
     Decreased homologous recombina  Proliferating cells 


    Pathways & Interactions
    for GIGYF1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GIGYF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/11 Interacting proteins for GIGYF1 (O754202, 3 ENSP000002757324) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATN1P542592, 3, ENSP000003490764MINT-2875806 I2D: score=3 STRING: ENSP00000349076
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    IGF1P050193, ENSP000003026654I2D: score=1 STRING: ENSP00000302665
    GRB10Q133223, ENSP000003817934I2D: score=4 STRING: ENSP00000381793
    CCBL2Q6YP213I2D: score=5 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0048009insulin-like growth factor receptor signaling pathway IEA--


    GIGYF1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for GIGYF1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GIGYF1
    Search CenterWatch for drugs/clinical trials and news about GIGYF1 / PERQ1 

    Transcripts
    for GIGYF1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for GIGYF1 gene: 
    NM_022574.4  

    Unigene Cluster for GIGYF1:

    GRB10 interacting GYF protein 1
    Hs.414396  [show with all ESTs]
    Unigene Representative Sequence: NM_022574
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000275732(uc003uwg.1) ENST00000472105 ENST00000471340 ENST00000464111


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    hsa-miR-3607-3p hsa-miR-520e hsa-miR-15a hsa-miR-106a hsa-miR-200a hsa-miR-30d hsa-miR-30a hsa-miR-637
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    Inhib. RNA
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    Additional cDNA sequence: 

    AF086157.1 AF088067.1 AF289554.1 AY176044.1 BC018563.1 BC036595.2 BC129991.1 

    7 DOTS entries:

    DT.111293  DT.97798907  DT.100025480  DT.100813994  DT.100813995  DT.95226684  DT.95363738 

    24/115 AceView cDNA sequences (see all 115):

    AA782185 W81502 AI553986 BM789051 AI659228 AW207128 AF088067 NM_022574 
    BU782755 AY176044 BQ071375 AI027669 AA282800 AF086157 AF289554 BM903514 
    BI021898 BQ267879 AI638333 BG698075 BF939359 AI591121 BM709569 AA325273 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for GIGYF1 (see all 8)    About this scheme

    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:                                                                                                                                                            


    ECgene alternative splicing isoforms for GIGYF1

    Expression
    for GIGYF1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GIGYF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGCCTGGAGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    GIGYF1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartAtrioventricular CanalAtrioventricular Canal CellsMyocardium
    HeartOutflow TractHeart
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor EN2 (Embryonic Progenitor Cell)

    See GIGYF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GIGYF1

    SOURCE GeneReport for Unigene cluster: Hs.414396
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    In Situ
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    Orthologs
    for GIGYF1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for GIGYF1 gene from 3/20 species (see all 20)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia GIGYF16
    		 --
    		 53(a)
    		 1 ↔ 1
    		 GL343926.1(90901-115086)
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC5685841 PERQ amino acid-rich with GYF domain-containing protein more 67.61(n)
    68.38(a)    		   568584  XM_001919904.3  XP_001919939.3 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG111486
    		 --
    		 15(a)
    		 possible ortholog
    		 4(876026-887652)


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

    Paralogs
    for GIGYF1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GIGYF1 gene
    GIGYF22  
    2 SIMAP similar genes for GIGYF1 using alignment to 2 protein entries:     PERQ1_HUMAN (see all proteins):
    PERQ1    GIGYF2

    GIGYF1 for paralogs           About GeneDecksing



    Genomic Variants
    for GIGYF1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/317 NCBI SNPs in GIGYF1 are shown (see all 317)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1888584881,2
    		--100277555(+) GGTGGA/GGGGGT 1 -- ut310--------
    rs751083961,2
    		--100277863(+) GGAAAA/GAAACG 1 -- ut310--------
    rs561489281,2
    		C,F,--100277868(+) GAAACG/AGGCCA 1 -- ut311Minor allele frequency- A:0.06NA 120
    rs1425744291,2
    		--100277932(+) GGCGAA/GGCCTT 1 -- ut310--------
    rs1453240961,2
    		--100277995(+) AACCC-/AAAAGAC 1 -- ut310--------
    rs1819476881,2
    		--100278026(+) AAATGA/GGCGGA 1 -- ut310--------
    rs1870433611,2
    		--100278090(+) CAGCCG/TCCTCT 1 -- ut310--------
    rs1894914571,2
    		--100278140(+) CCAACA/GGTAAA 1 -- ut310--------
    rs1166996781,2
    		F,--100278142(+) AACGGT/GAAAAA 1 -- ut311Minor allele frequency- G:0.03WA 118
    rs592680531,2
    		C,--100278165(+) AGACCC/TGGAAG 1 -- ut312Minor allele frequency- T:0.05WA 120

    HapMap Linkage Disequilibrium report for GIGYF1 (100277130 - 100287071 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for GIGYF1
         1 CNV: 4550
         1 Indel: 59370

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for GIGYF1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    GIGYF1 for disorders           About GeneDecksing

    OMIM gene information: 612064    OMIM disorders: --

    2 diseases for GIGYF1:    About MalaCards
    breast cancer    ataxia


    Export disorders for GIGYF1 gene to outside databases

    Publications
    for GIGYF1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GIGYF1 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with GIGYF1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Two novel proteins that are linked to insulin-like growth factor (IGF-I) receptors by the Grb10 adapter and modulate IGF-I signaling. (PubMed id 12771153)1, 2, 3 Giovannone B....Smith R.J. (2003)
    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. (PubMed id 9799793)1, 2, 3 Gloeckner G.... Rosenthal A. (1998)
    3. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    4. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
    5. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    6. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    7. Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns. (PubMed id 17672918)1 Szafranski K....Platzer M. (2007)
    8. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1 Beausoleil S.A.... Gygi S.P. (2006)
    9. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)1 Lim J.... Zoghbi H.Y. (2006)
    10. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)2 Wan D....Gu J. (2004)

    External Searches for GIGYF1 gene

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    Genome Databases showing GIGYF1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64599 HGNC: 9126 AceView: PERQ1 Ensembl:ENSG00000146830 euGenes: HUgn64599
    ECgene: GIGYF1 H-InvDB: GIGYF1

    Other Databases showing GIGYF1 gene

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    Specialized Databases showing GIGYF1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GIGYF1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for GIGYF1 gene

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