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

Gene ID: 91156, updated on 5-Mar-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 involved in homophilic cell adhesion via plasma membrane adhesion molecules; retina layer formation; and synapse assembly. Predicted to be located in Z disc and nucleus. Predicted to be active in synapse. [provided by Alliance of Genome Resources, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (201190824..201228952)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (200447715..200486213)
105.20220307 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)

Genotypes

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 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
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_2023_10

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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