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    IGFN1 immunoglobulin like and fibronectin type III domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 91156, updated on 27-Nov-2024

    Summary

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    Official Symbol
    IGFN1provided by HGNC
    Official Full Name
    immunoglobulin like and fibronectin type III domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:24607
    See related
    Ensembl:ENSG00000163395 MIM:617309; AllianceGenome:HGNC:24607
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EEF1A2BP1
    Summary
    Predicted to be located in Z disc and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in endometrium (RPKM 9.4), testis (RPKM 3.4) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IGFN1 in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (201190824..201228952)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (200447715..200486213)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (201159952..201198080)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1686 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201084381-201084901 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:201095506-201096496 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:201096497-201097487 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:201103675-201103881 Neighboring gene achaete-scute family bHLH transcription factor 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2309 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1687 Neighboring gene transmembrane protein 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2310 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201194684-201195676 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:201252475-201253004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201271917-201272422 Neighboring gene plakophilin 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201290713-201291214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201315623-201316123 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:201316234-201317218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2311 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201322652-201323191 Neighboring gene uncharacterized LOC101929326

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Novel splicing in IGFN1 intron 15 and role of stable G-quadruplex in the regulation of splicing in renal cell carcinoma. Verma SP, et al. PLoS One, 2018. PMID 30335789, Free PMC Article
    2. Association of IGFN1 variant with polypoidal choroidal vasculopathy. Wen X, et al. J Gene Med, 2018 Feb. PMID 29323771
    3. Translation elongation factor eEF1A binds to a novel myosin binding protein-C-like protein. Mansilla F, et al. J Cell Biochem, 2008 Oct 15. PMID 18756455, Free PMC Article
    4. Filamin C interacts with the muscular dystrophy KY protein and is abnormally distributed in mouse KY deficient muscle fibres. Beatham J, et al. Hum Mol Genet, 2004 Nov 15. PMID 15385448
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A novel variant, c.6196A>G in the IGFN1 gene, was significantly associated with only Polypoidal choroidal vasculopathy (combined p = 7.1 x 10(-11) , odds ratio = 9.44), but not with neovascular age-related macular degeneration(combined p = 0.683, odds ratio = 1.30).
      Title: Association of IGFN1 variant with polypoidal choroidal vasculopathy.
    2. Study results in UOK146 renal cell carcinoma cell line provide evidence of novel splicing in intron 15 of IGFN1 leading to the formation of two more alternative spliced isoforms. Potential G-quadruplex forming sequence (PQS) in this intron forms a stable G-quadruplex which is involved in the alternative splicing and regulates splicing efficiency.
      Title: Novel splicing in IGFN1 intron 15 and role of stable G-quadruplex in the regulation of splicing in renal cell carcinoma.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. a model in which this increased expression of IGFN1 serves to down-regulate protein synthesis via interaction with eEF1A during denervation.
      Title: Translation elongation factor eEF1A binds to a novel myosin binding protein-C-like protein.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp434B1231

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Z disc ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    immunoglobulin-like and fibronectin type III domain-containing protein 1
    Names
    EEF1A2-binding protein 1
    KY-interacting protein 1
    eEF1A2 binding protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001164586.2 → NP_001158058.1  immunoglobulin-like and fibronectin type III domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001158058.1

      Status: VALIDATED

      Source sequence(s)
      AC103925
      Consensus CDS
      CCDS53455.1
      UniProtKB/Swiss-Prot
      Q86VF2
      Related
      ENSP00000334714.4, ENST00000335211.9
      Conserved Domains (5) summary
      cd00096
      Location:3633 → 3700
      Ig; Immunoglobulin domain
      smart00410
      Location:3415 → 3494
      IG_like; Immunoglobulin like
      cd00063
      Location:3302 → 3388
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:29 → 120
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:3017 → 3104
      Ig; Immunoglobulin domain

    2. NM_001367841.1 → NP_001354770.1  immunoglobulin-like and fibronectin type III domain-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC103925
      Consensus CDS
      CCDS91141.1
      UniProtKB/Swiss-Prot
      F8WAI1, Q86VF2, Q9NT72
      Related
      ENSP00000295591.9, ENST00000295591.12

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      201190824..201228952
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005245580.4 → XP_005245637.1  immunoglobulin-like and fibronectin type III domain-containing protein 1 isoform X1

      Conserved Domains (5) summary
      cd00096
      Location:3608 → 3675
      Ig; Immunoglobulin domain
      smart00410
      Location:3390 → 3469
      IG_like; Immunoglobulin like
      cd00063
      Location:3277 → 3363
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:29 → 120
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:3017 → 3104
      Ig; Immunoglobulin domain

    2. XM_017002787.2 → XP_016858276.1  immunoglobulin-like and fibronectin type III domain-containing protein 1 isoform X2

    3. XM_006711618.4 → XP_006711681.1  immunoglobulin-like and fibronectin type III domain-containing protein 1 isoform X3

      Conserved Domains (4) summary
      cd00096
      Location:2930 → 2998
      Ig; Immunoglobulin domain
      cd00063
      Location:3302 → 3388
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:29 → 120
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:3017 → 3104
      Ig; Immunoglobulin domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      200447715..200486213
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339540.1 → XP_054195515.1  immunoglobulin-like and fibronectin type III domain-containing protein 1 isoform X4

    2. XM_054339543.1 → XP_054195518.1  immunoglobulin-like and fibronectin type III domain-containing protein 1 isoform X1

    3. XM_054339544.1 → XP_054195519.1  immunoglobulin-like and fibronectin type III domain-containing protein 1 isoform X2

    4. XM_054339545.1 → XP_054195520.1  immunoglobulin-like and fibronectin type III domain-containing protein 1 isoform X3

    5. XM_054339541.1 → XP_054195516.1  immunoglobulin-like and fibronectin type III domain-containing protein 1 isoform X4

    6. XM_054339542.1 → XP_054195517.1  immunoglobulin-like and fibronectin type III domain-containing protein 1 isoform X4

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_178275.4: Suppressed sequence

      Description
      NM_178275.4: This RefSeq was permanently suppressed because the CDS was partial.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86VF2.2 GenPept UniProtKB/Swiss-Prot:Q86VF2

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