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Aliases for LRRFIP1 Gene

Aliases for LRRFIP1 Gene

  • Leucine Rich Repeat (In FLII) Interacting Protein 1 2 3
  • GC-Binding Factor 2 2 3 4
  • LRR FLII-Interacting Protein 1 3 4
  • TAR RNA-Interacting Protein 3 4
  • TRIP 3 4
  • GCF2 3 4
  • NEDD8-Conjugating Enzyme 3
  • FLIIAP1 3
  • FLAP-1 3
  • HUFI-1 3
  • FLAP1 3
  • GCF-2 3

External Ids for LRRFIP1 Gene

Previous GeneCards Identifiers for LRRFIP1 Gene

  • GC02P236649
  • GC02P237282
  • GC02P238617
  • GC02P238823
  • GC02P238887
  • GC02P238382
  • GC02P238265
  • GC02P230392
  • GC02P238536

Summaries for LRRFIP1 Gene

GeneCards Summary for LRRFIP1 Gene

LRRFIP1 (Leucine Rich Repeat (In FLII) Interacting Protein 1) is a Protein Coding gene. Diseases associated with LRRFIP1 include gingival recession. Among its related pathways are Immune System and Signaling by FGFR1 in disease. GO annotations related to this gene include protein homodimerization activity and double-stranded RNA binding.

UniProtKB/Swiss-Prot for LRRFIP1 Gene

  • Transcriptional repressor which preferentially binds to the GC-rich consensus sequence (5-AGCCCCCGGCG-3) and may regulate expression of TNF, EGFR and PDGFA. May control smooth muscle cells proliferation following artery injury through PDGFA repression. May also bind double-stranded RNA. Positively regulates Toll-like receptor (TLR) signaling in response to agonist probably by competing with the negative FLII regulator for MYD88-binding.

Gene Wiki entry for LRRFIP1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRRFIP1 Gene

Genomics for LRRFIP1 Gene

Regulatory Elements for LRRFIP1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for LRRFIP1 Gene

Chromosome:
2
Start:
237,627,576 bp from pter
End:
237,813,682 bp from pter
Size:
186,107 bases
Orientation:
Plus strand

Genomic View for LRRFIP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LRRFIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRRFIP1 Gene

Proteins for LRRFIP1 Gene

  • Protein details for LRRFIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q32MZ4-LRRF1_HUMAN
    Recommended name:
    Leucine-rich repeat flightless-interacting protein 1
    Protein Accession:
    Q32MZ4
    Secondary Accessions:
    • E9PGZ2
    • O75766
    • O75799
    • Q32MZ5
    • Q53T49
    • Q6PKG2
    • Q9Y607

    Protein attributes for LRRFIP1 Gene

    Size:
    808 amino acids
    Molecular mass:
    89253 Da
    Quaternary structure:
    • Homodimer. May also form higher oligomers. Interacts with FLII. Interacts with MYD88. Competes with FLII for MyD88-binding, even in the absence of LPS.
    SequenceCaution:
    • Sequence=AAH01385.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAY14672.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for LRRFIP1 Gene

    Alternative splice isoforms for LRRFIP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LRRFIP1 Gene

Proteomics data for LRRFIP1 Gene at MOPED

Post-translational modifications for LRRFIP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for LRRFIP1 Gene

Domains & Families for LRRFIP1 Gene

Protein Domains for LRRFIP1 Gene

Suggested Antigen Peptide Sequences for LRRFIP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q32MZ4

UniProtKB/Swiss-Prot:

LRRF1_HUMAN :
  • The DNA-binding domain is intrinsically unstructured.
  • Belongs to the LRRFIP family.
Domain:
  • The DNA-binding domain is intrinsically unstructured.
  • The coiled coil mediates dimerization.
Family:
  • Belongs to the LRRFIP family.
genes like me logo Genes that share domains with LRRFIP1: view

No data available for Gene Families for LRRFIP1 Gene

Function for LRRFIP1 Gene

Molecular function for LRRFIP1 Gene

GENATLAS Biochemistry:
leucine rich repeat in FLII-interacting protein 1,identical to the TAR RNA interacting protein,with specific alternatively spliced transcripts,mainly expressed in heart and skeletal muscle
UniProtKB/Swiss-Prot Function:
Transcriptional repressor which preferentially binds to the GC-rich consensus sequence (5-AGCCCCCGGCG-3) and may regulate expression of TNF, EGFR and PDGFA. May control smooth muscle cells proliferation following artery injury through PDGFA repression. May also bind double-stranded RNA. Positively regulates Toll-like receptor (TLR) signaling in response to agonist probably by competing with the negative FLII regulator for MYD88-binding.

Gene Ontology (GO) - Molecular Function for LRRFIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IDA 23099021
GO:0003725 double-stranded RNA binding TAS 9671805
GO:0005515 protein binding IPI 9671805
GO:0042803 protein homodimerization activity IDA 23099021
genes like me logo Genes that share ontologies with LRRFIP1: view

Phenotypes for LRRFIP1 Gene

genes like me logo Genes that share phenotypes with LRRFIP1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LRRFIP1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for LRRFIP1 Gene

Localization for LRRFIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRRFIP1 Gene

Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LRRFIP1 Gene COMPARTMENTS Subcellular localization image for LRRFIP1 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 4
plasma membrane 4

Gene Ontology (GO) - Cellular Components for LRRFIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005634 nucleus NAS 9705290
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton TAS 9671805
genes like me logo Genes that share ontologies with LRRFIP1: view

Pathways & Interactions for LRRFIP1 Gene

genes like me logo Genes that share pathways with LRRFIP1: view

Gene Ontology (GO) - Biological Process for LRRFIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter TAS 9705290
GO:0008150 biological_process ND --
GO:0032481 positive regulation of type I interferon production TAS --
GO:0045087 innate immune response TAS --
genes like me logo Genes that share ontologies with LRRFIP1: view

No data available for SIGNOR curated interactions for LRRFIP1 Gene

Drugs & Compounds for LRRFIP1 Gene

No Compound Related Data Available

Transcripts for LRRFIP1 Gene

Unigene Clusters for LRRFIP1 Gene

Leucine rich repeat (in FLII) interacting protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LRRFIP1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LRRFIP1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c ^ 17a ·
SP1: - - - - - -
SP2: - -
SP3: -
SP4: - -
SP5: - - - - - - - -
SP6: - - -
SP7: - - -
SP8:
SP9:
SP10: - -
SP11: - -
SP12:
SP13:
SP14:

ExUns: 17b ^ 18 ^ 19 ^ 20a · 20b
SP1:
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:
SP13: -
SP14:

Relevant External Links for LRRFIP1 Gene

GeneLoc Exon Structure for
LRRFIP1
ECgene alternative splicing isoforms for
LRRFIP1

Expression for LRRFIP1 Gene

mRNA expression in normal human tissues for LRRFIP1 Gene

Protein differential expression in normal tissues from HIPED for LRRFIP1 Gene

This gene is overexpressed in Nasal epithelium (19.0), Peripheral blood mononuclear cells (9.3), and Lymph node (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for LRRFIP1 Gene



SOURCE GeneReport for Unigene cluster for LRRFIP1 Gene Hs.471779

mRNA Expression by UniProt/SwissProt for LRRFIP1 Gene

Q32MZ4-LRRF1_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expression patterns with LRRFIP1: view

Protein tissue co-expression partners for LRRFIP1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for LRRFIP1 Gene

Orthologs for LRRFIP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for LRRFIP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LRRFIP1 35
  • 89.31 (n)
  • 94.08 (a)
LRRFIP1 36
  • 41 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LRRFIP1 35
  • 90.66 (n)
  • 92.7 (a)
LRRFIP1 36
  • 43 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lrrfip1 35
  • 86.32 (n)
  • 91.48 (a)
Lrrfip1 16
Lrrfip1 36
  • 41 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LRRFIP1 36
  • 39 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LRRFIP1 36
  • 38 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LRRFIP1 36
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRRFIP1 35
  • 78.36 (n)
  • 84.04 (a)
LRRFIP1 36
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LRRFIP1 36
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrrfip1 35
  • 70.4 (n)
  • 75.96 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15436 35
zebrafish
(Danio rerio)
Actinopterygii lrrfip1b 35
  • 64.33 (n)
  • 67.56 (a)
lrrfip1a 36
  • 38 (a)
OneToMany
lrrfip1b 36
  • 34 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG8578 36
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea flap-1 36
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5234 36
  • 14 (a)
OneToMany
Species with no ortholog for LRRFIP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LRRFIP1 Gene

ENSEMBL:
Gene Tree for LRRFIP1 (if available)
TreeFam:
Gene Tree for LRRFIP1 (if available)

Paralogs for LRRFIP1 Gene

(2) SIMAP similar genes for LRRFIP1 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for LRRFIP1 Gene

genes like me logo Genes that share paralogs with LRRFIP1: view

No data available for Paralogs for LRRFIP1 Gene

Variants for LRRFIP1 Gene

Sequence variations from dbSNP and Humsavar for LRRFIP1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs9928 -- 237,765,700(-) AAAAA(A/T)TTTTT intron-variant, utr-variant-3-prime
rs15232 -- 237,763,297(+) GGCAA(C/T)TGTCA intron-variant, reference, synonymous-codon
rs733579 -- 237,753,189(-) AGCAA(A/G)TGGAT intron-variant
rs734388 -- 237,762,474(+) TTCTC(A/G)TGACT intron-variant
rs868119 -- 237,762,685(-) TGTTG(C/T)TCTTT intron-variant, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for LRRFIP1 Gene

Variant ID Type Subtype PubMed ID
nsv876057 CNV Gain 21882294
nsv876058 CNV Loss 21882294
nsv508893 CNV Insertion 20534489
nsv876059 CNV Loss 21882294
esv2660099 CNV Deletion 23128226
esv23602 CNV Loss 19812545
esv2721737 CNV Deletion 23290073
esv1004389 CNV Deletion 20482838
nsv3230 CNV Insertion 18451855
nsv507077 CNV Insertion 20534489
esv997081 CNV Insertion 20482838
nsv876060 CNV Loss 21882294
esv2721738 CNV Deletion 23290073
esv24426 CNV Loss 19812545
nsv518573 CNV Gain 19592680
nsv519961 CNV Loss 19592680
esv4182 CNV Deletion 18987735
esv2664469 CNV Deletion 23128226

Variation tolerance for LRRFIP1 Gene

Residual Variation Intolerance Score: 68.45% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.41; 77.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LRRFIP1 Gene

HapMap Linkage Disequilibrium report
LRRFIP1
Human Gene Mutation Database (HGMD)
LRRFIP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRRFIP1 Gene

Disorders for LRRFIP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LRRFIP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
gingival recession
  • gingival recession, unspecified
- elite association

Relevant External Links for LRRFIP1

Genetic Association Database (GAD)
LRRFIP1
Human Genome Epidemiology (HuGE) Navigator
LRRFIP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LRRFIP1
genes like me logo Genes that share disorders with LRRFIP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LRRFIP1 Gene

Publications for LRRFIP1 Gene

  1. A polymorphism in the EAAT2 promoter is associated with higher glutamate concentrations and higher frequency of progressing stroke. (PMID: 16520390) Mallolas J. … DA!valos A. (J. Exp. Med. 2006) 23 67
  2. GCF2/LRRFIP1 represses tumor necrosis factor alpha expression. (PMID: 16199883) Suriano A.R. … Sullivan K.E. (Mol. Cell. Biol. 2005) 2 67
  3. GCF2: expression and molecular analysis of repression. (PMID: 14522076) Rikiyama T. … Johnson A.C. (Biochim. Biophys. Acta 2003) 23 67
  4. Novel proteins interacting with the leucine-rich repeat domain of human flightless-I identified by the yeast two-hybrid system. (PMID: 10366446) Fong K.S.K. … de Couet H.G. (Genomics 1999) 23 67
  5. Identification of the binding partners for flightless I, a novel protein bridging the leucine-rich repeat and the gelsolin superfamilies. (PMID: 9525888) Liu Y.-T. … Yin H.L. (J. Biol. Chem. 1998) 2 67

Products for LRRFIP1 Gene

Sources for LRRFIP1 Gene

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