Free for academic non-profit institutions. Other users need a Commercial license

Aliases for LRRFIP1 Gene

Aliases for LRRFIP1 Gene

  • LRR Binding FLII Interacting Protein 1 2 3 5
  • GC-Binding Factor 2 2 3 4
  • Leucine Rich Repeat (In FLII) Interacting Protein 1 2 3
  • LRR FLII-Interacting Protein 1 3 4
  • TAR RNA-Interacting Protein 3 4
  • GCF2 3 4
  • TRIP 3 4
  • Leucine-Rich Repeat Flightless-Interacting Protein 1 3
  • 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 (LRR Binding FLII Interacting Protein 1) is a Protein Coding gene. Diseases associated with LRRFIP1 include Gingival Recession. Among its related pathways are HIV Life Cycle and FGFR1 mutant receptor activation. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and double-stranded RNA binding. An important paralog of this gene is LRRFIP2.

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

Additional gene information for LRRFIP1 Gene

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

Genomics for LRRFIP1 Gene

GeneHancer (GH) Regulatory Elements for LRRFIP1 Gene

Promoters and enhancers for LRRFIP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J237685 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 667.8 +64.8 64808 13.1 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 LRRFIP1 ILKAP RAB17 LOC105373958 PRLH RNU6-1140P RBM44 ESPNL UBE2F PIR56300
GH02J237624 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 655.2 +1.4 1441 9.9 ELF3 PKNOX1 ARID4B SIN3A RAD21 THRB RARA YY1 ZNF335 RXRA LRRFIP1 RAB17 LOC105373958 ENSG00000227107 RBM44 PIR56300
GH02J237508 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 650.1 -116.3 -116340 5.4 FOXA2 ARID4B NEUROD1 SIN3A ZNF2 ZNF48 YY1 ZNF143 RXRA MIER2 MIR6811 LRRFIP1 MLPH RNU6-1140P PRLH LOC105373958 RAB17 ENSG00000222022 COL6A3
GH02J237672 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 21.9 +48.5 48471 7.1 PKNOX1 FOXA2 ZFP64 ARID4B SIN3A IRF4 YY1 ZNF207 ZNF143 FOS LRRFIP1 MLPH UBE2F PIR56300
GH02J237699 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 10.7 +75.2 75239 6.4 PKNOX1 FEZF1 ZNF121 GLIS2 ATF7 FOS RUNX3 SP3 REST ZNF592 RAB17 LOC105373958 LRRFIP1 RBM44 MLPH PIR56300
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LRRFIP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LRRFIP1 gene promoter:
  • HNF-4alpha1
  • HNF-4alpha2
  • GR-alpha
  • GR
  • Max1
  • COUP-TF
  • COUP-TF1
  • COUP

Genomic Locations for LRRFIP1 Gene

Genomic Locations for LRRFIP1 Gene
chr2:237,627,576-237,813,682
(GRCh38/hg38)
Size:
186,107 bases
Orientation:
Plus strand
chr2:238,536,219-238,722,325
(GRCh37/hg19)
Size:
186,107 bases
Orientation:
Plus strand

Genomic View for LRRFIP1 Gene

Genes around LRRFIP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRRFIP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for LRRFIP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for LRRFIP1 Gene

Domains & Families for LRRFIP1 Gene

Gene Families for LRRFIP1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for LRRFIP1 Gene

InterPro:
ProtoNet:

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

Function for LRRFIP1 Gene

Molecular function for LRRFIP1 Gene

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.
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

Phenotypes From GWAS Catalog for LRRFIP1 Gene

Gene Ontology (GO) - Molecular Function for LRRFIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 14522076
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISA --
GO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA 14522076
GO:0003677 DNA binding IDA,IEA 23099021
GO:0003725 double-stranded RNA binding TAS 9671805
genes like me logo Genes that share ontologies with LRRFIP1: view
genes like me logo Genes that share phenotypes with LRRFIP1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRRFIP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LRRFIP1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
cytoskeleton 4
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for LRRFIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS,TAS 9705290
GO:0005737 cytoplasm TAS 9671805
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton TAS 9671805
GO:0005886 plasma membrane IDA --
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:0000122 negative regulation of transcription by RNA polymerase II IDA 14522076
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II TAS 9705290
GO:0032481 positive regulation of type I interferon production 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRRFIP1

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for LRRFIP1 Gene



Protein tissue co-expression partners for LRRFIP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of LRRFIP1 Gene:

LRRFIP1

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.

Evidence on tissue expression from TISSUES for LRRFIP1 Gene

  • Liver(4.4)
  • Heart(4.3)
  • Lung(3.4)
  • Skin(3)
  • Muscle(2.3)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with LRRFIP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
dog
(Canis familiaris)
Mammalia LRRFIP1 34 33
  • 90.66 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LRRFIP1 34 33
  • 89.31 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Lrrfip1 16 34 33
  • 86.32 (n)
chimpanzee
(Pan troglodytes)
Mammalia LRRFIP1 34
  • 46 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LRRFIP1 34
  • 39 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LRRFIP1 34
  • 38 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRRFIP1 34 33
  • 78.36 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LRRFIP1 34
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrrfip1 33
  • 70.4 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15436 33
zebrafish
(Danio rerio)
Actinopterygii lrrfip1b 34 33
  • 64.33 (n)
OneToMany
lrrfip1a 34
  • 38 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG8578 34
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea flap-1 34
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5234 34
  • 14 (a)
OneToMany
Species where no ortholog for LRRFIP1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for LRRFIP1: view image

Paralogs for LRRFIP1 Gene

Paralogs for LRRFIP1 Gene

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

  • LRRF1_HUMAN
  • C9JTC6_HUMAN
  • Q05D04_HUMAN
  • Q9BSL6_HUMAN

Pseudogenes.org Pseudogenes for LRRFIP1 Gene

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

Variants for LRRFIP1 Gene

Sequence variations from dbSNP and Humsavar for LRRFIP1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
VAR_036037 A breast cancer sample p.Ser68Cys
rs1000030698 -- 237,749,804(+) A/G intron_variant
rs1000056249 -- 237,752,387(+) C/G intron_variant
rs1000061402 -- 237,703,292(+) C/T intron_variant
rs1000063739 -- 237,642,383(+) G/A/T genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv1221e212 CNV loss 25503493
dgv2181n106 CNV deletion 24896259
dgv7345n54 CNV loss 21841781
dgv7346n54 CNV loss 21841781
dgv7347n54 CNV loss 21841781
esv1004389 CNV deletion 20482838
esv23602 CNV loss 19812545
esv24426 CNV loss 19812545
esv2660099 CNV deletion 23128226
esv2664469 CNV deletion 23128226
esv2721737 CNV deletion 23290073
esv2721738 CNV deletion 23290073
esv3561236 CNV deletion 23714750
esv3594748 CNV loss 21293372
esv4182 CNV loss 18987735
esv997081 CNV insertion 20482838
nsv1000252 CNV loss 25217958
nsv1010093 CNV gain 25217958
nsv1073026 CNV deletion 25765185
nsv1122022 CNV deletion 24896259
nsv3230 CNV insertion 18451855
nsv507077 OTHER sequence alteration 20534489
nsv508893 CNV insertion 20534489
nsv518573 CNV gain 19592680
nsv519961 CNV loss 19592680
nsv584746 CNV loss 21841781
nsv584752 CNV loss 21841781
nsv584753 CNV loss 21841781
nsv963784 CNV duplication 23825009

Variation tolerance for LRRFIP1 Gene

Residual Variation Intolerance Score: 68.5% 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)

Additional Variant Information for LRRFIP1 Gene

Human Gene Mutation Database (HGMD)
LRRFIP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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: HGMD and DISEASES

Disorder Aliases PubMed IDs
gingival recession
  • gingival recession, localized
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for LRRFIP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. GCF2/LRRFIP1 represses tumor necrosis factor alpha expression. (PMID: 16199883) Suriano AR … Sullivan KE (Molecular and cellular biology 2005) 2 3 4 58
  2. GCF2: expression and molecular analysis of repression. (PMID: 14522076) Rikiyama T … Johnson AC (Biochimica et biophysica acta 2003) 3 4 22 58
  3. Novel proteins interacting with the leucine-rich repeat domain of human flightless-I identified by the yeast two-hybrid system. (PMID: 10366446) Fong KS … de Couet HG (Genomics 1999) 3 4 22 58
  4. Molecular cloning and characterization of a transcription regulator with homology to GC-binding factor. (PMID: 9705290) Reed AL … Johnson AC (The Journal of biological chemistry 1998) 2 3 4 58
  5. Crystal structure of the dimeric coiled-coil domain of the cytosolic nucleic acid sensor LRRFIP1. (PMID: 23099021) Nguyen JB … Modis Y (Journal of structural biology 2013) 3 4 58

Products for LRRFIP1 Gene

Sources for LRRFIP1 Gene

Content
Loading form....