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

IGFN1 Gene

protein-coding   GIFtS: 47
GCID: GC01P201159

Immunoglobulin-Like And Fibronectin Type III Domain Containing...

  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
Immunoglobulin-Like And Fibronectin Type III Domain Containing 11 2     EEF1A2 Binding Protein2
EEF1A2BP12 3     Immunoglobulin-Like And Fibronectin Type III Domain-Containing Protein 12
EEF1A2-Binding Protein 12 3     KYIP13
KY-Interacting Protein 12 3     

External Ids:    HGNC: 246071   Entrez Gene: 911562   Ensembl: ENSG000001633957   UniProtKB: Q86VF23   

Export aliases for IGFN1 gene to outside databases

Previous GC identifers: GC01P199448 GC01P172326


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

GeneCards Summary for IGFN1 Gene: 
IGFN1 (immunoglobulin-like and fibronectin type III domain containing 1) is a protein-coding gene. Diseases associated with IGFN1 include muscular dystrophy. An important paralog of this gene is MYOM1.


(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_000001.10  NC_018912.2  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the IGFN1 gene promoter:
         USF1   RelA   Nkx2-5   NF-kappaB   E47   N-Myc   USF-1   Zic1   Chx10   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIGFN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for IGFN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IGFN1


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

Entrez Gene cytogenetic band: 1q32.1   Ensembl cytogenetic band:  1q32.1   HGNC cytogenetic band: 1q32.1

IGFN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IGFN1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P201159:  view genomic region     (about GC identifiers)

Start:
201,159,953 bp from pter      End:
201,198,080 bp from pter
Size:
38,128 bases      Orientation:
plus strand

(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: IGFN1_HUMAN, Q86VF2 (See protein sequence)
Recommended Name: Immunoglobulin-like and fibronectin type III domain-containing protein 1  
Size: 1251 amino acids; 137763 Da
Subunit: Interacts with FLNC (By similarity). Interacts with KY
Subcellular location: Nucleus (By similarity). Cytoplasm, myofibril, sarcomere, Z line (By similarity)
Secondary accessions: F8WAI1 Q9NT72
Alternative splicing: 5 isoforms:  Q86VF2-1   Q86VF2-2   Q86VF2-3   Q86VF2-4   Q86VF2-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for IGFN1: NX_Q86VF2

Explore proteomics data for IGFN1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q86VF2

  • IGFN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    IGFN1 Protein Expression
    REFSEQ proteins: NP_001158058.1  
    ENSEMBL proteins: 
     ENSP00000399041   ENSP00000387975   ENSP00000334714   ENSP00000398386   ENSP00000295591  

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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for IGFN1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0030018Z disc ISS--

    IGFN1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    FN3: Fibronectin type III domain containing
    ISET: Immunoglobulin superfamily / I-set domain containing

    5/6 InterPro protein domains (see all 6):
     IPR003598 Ig_sub2
     IPR003961 Fibronectin_type3
     IPR013098 Ig_I-set
     IPR013783 Ig-like_fold
     IPR007110 Ig-like_dom

    Graphical View of Domain Structure for InterPro Entry Q86VF2

    ProtoNet protein and cluster: Q86VF2

    2 Blocks protein domains:
    IPB003598 Immunoglobulin C-2 type
    IPB013098 Immunoglobulin I-set


    UniProtKB/Swiss-Prot: IGFN1_HUMAN, Q86VF2
    Similarity: Contains 4 fibronectin type-III domains
    Similarity: Contains 5 Ig-like (immunoglobulin-like) domains


    IGFN1 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    IGFN1 for ontologies           About GeneDecksing


    Animal Models:
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IGFN1


    (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 IGFN1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for IGFN1 (Q86VF23 ENSP000003347144) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KYQ8NBH23, ENSP000003975984I2D: score=1 STRING: ENSP00000397598
    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:0008150biological_process ND--

    IGFN1 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 IGFN1

    Search CenterWatch for drugs/clinical trials and news about IGFN1

    (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 IGFN1 gene (2 alternative transcripts): 
    NM_001164586.1  NM_178275.4  

    Unigene Cluster for IGFN1:

    Immunoglobulin-like and fibronectin type III domain containing 1
    Hs.519024  [show with all ESTs]
    Unigene Representative Sequence: NM_001164586
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000437879 ENST00000444705 ENST00000412892 ENST00000473483 ENST00000335211(uc001gwc.3 uc001gwb.3)
    ENST00000451870 ENST00000295591
    miRNA
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    hsa-miR-4283 hsa-miR-612 hsa-miR-1285
    SwitchGear 3'UTR luciferase reporter plasmidIGFN1 3' UTR sequence
    Inhib. RNA
    Products:
         
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    Additional mRNA sequence: 

    AL137493.1 AY245430.2 BC028184.1 BC033185.1 BC131529.1 

    5 DOTS entries:

    DT.100742766  DT.410139  DT.95099792  DT.95186603  DT.91744136 

    24/31 AceView cDNA sequences (see all 31):

    AA211777 AI247998 AA180838 AA441900 BG418952 BC028184 BX105048 BQ188954 
    BC033185 BG166404 BF510813 AA776394 NM_178275 AY245430 AL137493 CB529233 
    BI005570 AA180179 AA678805 AI039158 BG423214 AI076730 AW732600 R98454 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for IGFN1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13
    SP1:                                                                                          
    SP2:                                                              -                           


    ECgene alternative splicing isoforms for IGFN1

    (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

    IGFN1 expression in normal human tissues (normalized intensities)      IGFN1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCTGTGCCG
    IGFN1 Expression
    About this image


    IGFN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Skeletal Muscle (Muscoskeletal System)
             vastus lateralis   
     
     Bone (Muscoskeletal System)
             Notch-transfected mesenchymal stromal cells (SB623)
     
     Mesenchymal Stem Cells
             Notch-transfected mesenchymal stromal cells (SB623)
     
     Thyroid (Endocrine System)

    See IGFN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IGFN1

    SOURCE GeneReport for Unigene cluster: Hs.519024

    UniProtKB/Swiss-Prot: IGFN1_HUMAN, Q86VF2
    Tissue specificity: Expressed in skeletal muscle

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IGFN1

    (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 chordates.

    Orthologs for IGFN1 gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Igfn11 , 5 immunoglobulin-like and fibronectin type III domain more1, 5 65.15(n)1
    53.63(a)1
      1 (59.44 cM)5
    2264381  NM_177642.31  NP_808310.21 
     1359535785 
    chicken
    (Gallus gallus)
    Aves IGFN16
    immunoglobulin-like and fibronectin type III domai...
    45(a)
    1 ↔ 1
    26(853960-876469)
    lizard
    (Anolis carolinensis)
    Reptilia IGFN16
    immunoglobulin-like and fibronectin type III domai...
    48(a)
    1 ↔ 1
    4(131157664-131211879)
    zebrafish
    (Danio rerio)
    Actinopterygii IGFN1 (1 of 3)6
    IGFN1 (3 of 3)6
    (see all 3)
    immunoglobulin-like and fibronectin type III domai...
    immunoglobulin-like and fibronectin type III domai...
    (see all 3)
    36(a)
    33(a)
    (see all 3)
    1 ↔ many
    1 ↔ many
    (see all 3)
    6(46680604-46699591)
    6(46709329-46722632)


    ENSEMBL Gene Tree for IGFN1 (if available)
    TreeFam Gene Tree for IGFN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for IGFN1 gene
    MYOM12  IGSF222  MYBPH2  MYBPC22  MYBPC12  MYBPC32  MYBPHL2  MYOM32  
    MYOM22  
    2 SIMAP similar genes for IGFN1 using alignment to 3 protein entries:     IGFN1_HUMAN (see all proteins):
    MUSK    TTN

    IGFN1 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

    10/1219 SNPs in IGFN1 are shown (see all 1219)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1130466981,2
    C,F--201157977(+) CGATAG/AGGATC 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1169952661,2
    F--201157980(+) TAGGGA/TTCCAT 1 -- us2k11Minor allele frequency- T:0.04EA 120
    rs1887939291,2
    --201157988(+) CATGTA/GTGACA 1 -- us2k10--------
    rs1812073551,2
    --201157997(+) CACAGC/TGCAGA 1 -- us2k10--------
    rs1160270421,2
    C,F--201158008(+) GAGGAG/TTAGGT 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1862575641,2
    --201158011(+) GAGTAG/TGTCCC 1 -- us2k10--------
    rs1113249181,2
    C,F--201158155(+) GGCAAG/AATCTC 1 -- us2k12Minor allele frequency- A:0.02NA 122
    rs1915682381,2
    --201158271(+) GCACAC/TGGGCT 1 -- us2k10--------
    rs168480071,2
    C,F--201158340(+) ACAGCC/GTCCTC 1 -- us2k1 trp35Minor allele frequency- G:0.21NA EA 368
    rs1408793351,2
    C--201158371(+) CAGCC-/TCCTCCTTCCCCCT
    CCTGGAATGATGCAGCA
    TCCTC
    1 -- us2k10--------

    HapMap Linkage Disequilibrium report for IGFN1 (201159953 - 201198080 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for IGFN1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2721417CNV Deletion23290073
    esv1570400CNV Deletion17803354
    esv2721406CNV Deletion23290073
    esv1754216CNV Insertion17803354
    nsv518716CNV Loss19592680
    nsv428301CNV Gain18775914
    esv25305CNV Gain19812545

    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
    2 diseases for IGFN1:    About MalaCards
    muscular dystrophy    


    IGFN1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): IGFN1
    Human Genome Epidemiology (HuGE) Navigator: IGFN1 (1 document)

    Export disorders for IGFN1 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 IGFN1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with IGFN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    2. Filamin C interacts with the muscular dystrophy KY protein and is abnormally distributed in mouse KY deficient muscle fibres. (PubMed id 15385448)1, 2 Beatham J....Blanco G. (2004)
    3. Translation elongation factor eEF1A binds to a novel myosin binding protein-C-like protein. (PubMed id 18756455)1 Mansilla F....Knudsen C.R. (2008)
    4. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    8. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 91156 HGNC: 24607 AceView: DKFZp434B1231 Ensembl:ENSG00000163395 euGenes: HUgn91156
    ECgene: IGFN1 H-InvDB: IGFN1

    (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 IGFN1 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 IGFN1 gene:
    Search GeneIP for patents involving IGFN1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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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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    (GIFtS: 73)
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