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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)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
GRB10 Interacting GYF Protein 11 2     GYF12
PERQ11 2 3     PERQ Amino Acid-Rich With GYF Domain-Containing Protein 12
PERQ Amino Acid Rich, With GYF Domain 11 2     Postmeiotic Segregation Increased 2-Like 122
GYF Domain Containing 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


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

GeneCards Summary for GIGYF1 Gene: 
GIGYF1 (GRB10 interacting GYF protein 1) is a protein-coding gene. Diseases associated with GIGYF1 include breast cancer. An important paralog of this gene is GIGYF2.

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)




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NC_018918.2  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     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for GIGYF1 at MOPED 

Post-translational modifications:

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

  • GIGYF1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GIGYF1 Protein Expression
    REFSEQ proteins: NP_072096.2  
    ENSEMBL proteins: 
     ENSP00000275732  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR003169 GYF

    Graphical View of Domain Structure for InterPro Entry O75420

    ProtoNet protein and cluster: O75420

    1 Blocks protein domain: 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


    GIGYF1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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)

         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


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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for GIGYF1 
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    SwitchGear 3'UTR luciferase reporter plasmidGIGYF1 3' UTR sequence
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 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)

    5/12 Interacting proteins for GIGYF1 (O754202, 3 ENSP000002757324) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATN1P542592, 3, ENSP000003490764MINT-2875806 I2D: score=3 STRING: ENSP00000349076
    MEF2BQ020803I2D: score=2 
    MEF2BNB-MEF2BQ020803I2D: score=2 
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    IGF1P050193, ENSP000003026654I2D: score=1 STRING: ENSP00000302665
    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



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 (PERQ1)

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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, 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

    miRNA
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    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GIGYF1

    Additional mRNA 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):

    BM789051 AW207128 BU782755 AY176044 AI659228 W81502 AA782185 NM_022574 
    AI027669 AF088067 AI553986 BQ071375 BM930598 CA392627 BG698075 BU783759 
    BU608012 BQ423515 AI962391 AA425733 BC036595 BM709569 BQ894603 BM976971 

    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

    (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)      GIGYF1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCCTGGAGA
    GIGYF1 Expression
    About this image


    GIGYF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Atrioventricular Canal Cells Atrioventricular Canal
             Outflow Tract

    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
    Assay Products:
     

     
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    (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 and fungi.

    Orthologs for GIGYF1 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gigyf11 , 5 GRB10 interacting GYF protein 11, 5 87.97(n)1
    92.59(a)1
      5 (76.53 cM)5
    573301  NM_031408.21  NP_113596.21 
     1375188805 
    lizard
    (Anolis carolinensis)
    Reptilia GIGYF16
    Uncharacterized protein
    53(a)
    1 ↔ 1
    GL343926.1(88200-115086)
    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
    --
    12(a)
    1 → many
    4(876026-887652)
    worm
    (Caenorhabditis elegans)
    Secernentea C18H9.36
    Uncharacterized protein C18H9.2
    10(a)
    1 → many
    II(6684236-6691841)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SMY2(YBR172C)4 Protein of unknown function involved in COPII vesicle more   --   2(581372-579150) 852470  NP_009731.2 


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

    (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



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/512 SNPs in GIGYF1 are shown (see all 512)    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
    C--100277932(+) GGCGAA/GGCCTT 1 -- ut310--------
    rs1453240961,2
    C--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
    C,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
         Database of Genomic Variants (DGV) 10/11 variations for GIGYF1 (see all 11):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2734888CNV Deletion23290073
    nsv888792CNV Loss21882294
    nsv470381CNV Loss18288195
    nsv888791CNV Loss21882294
    nsv888779CNV Loss21882294
    nsv819414CNV Loss19587683
    dgv7401n71CNV Loss21882294
    dgv7399n71CNV Loss21882294
    nsv888795CNV Loss21882294
    nsv831072CNV Loss17160897

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 612064    OMIM disorders: --

    2 diseases for GIGYF1:    About MalaCards
    breast cancer    


    GIGYF1 for disorders           About GeneDecksing


    Export disorders for GIGYF1 gene to outside databases

    (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 17):
    (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. 14-3-3 proteins sequester a pool of soluble TRIM32 ubi quitin ligase to repress autoubiquitylation and cytoplasmic body formation. (PubMed id 23444366)1 Ichimura T....Hachiya N. (2013)
    4. A novel 4EHP-GIGYF2 translational repressor complex is essential for mammalian development. (PubMed id 22751931)1 Morita M....Sonenberg N. (2012)
    5. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    6. 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)
    7. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    8. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    9. 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)
    10. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1 Beausoleil S.A.... Gygi S.P. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (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

    (According to HUGE)
    About This Section
      --

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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GIGYF1 gene:
    Search GeneIP for patents involving GIGYF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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