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LRRFIP1 LRR binding FLII interacting protein 1 [ Homo sapiens (human) ]

Gene ID: 9208, updated on 12-Aug-2018

Summary

Official Symbol
LRRFIP1provided by HGNC
Official Full Name
LRR binding FLII interacting protein 1provided by HGNC
Primary source
HGNC:HGNC:6702
See related
Ensembl:ENSG00000124831 MIM:603256; Vega:OTTHUMG00000133339
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
GCF2; TRIP; FLAP1; GCF-2; FLAP-1; HUFI-1; FLIIAP1
Expression
Ubiquitous expression in lung (RPKM 14.3), bone marrow (RPKM 12.6) and 25 other tissues See more
Orthologs

Genomic context

See LRRFIP1 in Genome Data Viewer
Location:
2q37.3
Exon count:
29
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (237627576..237781647)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (238536224..238690290)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373958 Neighboring gene VISTA enhancer hs1945 Neighboring gene RNA binding motif protein 44 Neighboring gene receptor activity modifying protein 1 Neighboring gene VISTA enhancer hs1968

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Cytosolic sensors of pathogen-associated DNA, organism-specific biosystem (from REACTOME)
    Cytosolic sensors of pathogen-associated DNA, organism-specific biosystemPresence of pathogen-associated DNA in cytosol induces type I IFN production. Several intracellular receptors have been implicated to some degree. These include DNA-dependent activator of interferon ...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
    Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
  • FGFR1 mutant receptor activation, organism-specific biosystem (from REACTOME)
    FGFR1 mutant receptor activation, organism-specific biosystemThe FGFR1 gene has been shown to be subject to activating mutations, chromosomal rearrangements and gene amplification leading to a variety of proliferative and developmental disorders depending on w...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production, organism-specific biosystem (from REACTOME)
    LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production, organism-specific biosystemLeucine-rich repeat flightless-interacting protein 1 (LRRFIP1) can bind exogenous double-stranded RNA and double-stranded DNA (Wilson SA et al. 1998; Yang P et al. 2010). LRRFIP1 was shown to mediate...
  • Signaling by FGFR in disease, organism-specific biosystem (from REACTOME)
    Signaling by FGFR in disease, organism-specific biosystemA number of skeletal and developmental diseases have been shown to arise as a result of mutations in the FGFR1, 2 and 3 genes. These include dwarfism syndromes (achondroplasia, hypochondroplasia and...
  • Signaling by FGFR1 in disease, organism-specific biosystem (from REACTOME)
    Signaling by FGFR1 in disease, organism-specific biosystemThe FGFR1 gene has been shown to be subject to activating mutations, chromosomal rearrangements and gene amplification leading to a variety of proliferative and developmental disorders depending on w...
  • Signaling by cytosolic FGFR1 fusion mutants, organism-specific biosystem (from REACTOME)
    Signaling by cytosolic FGFR1 fusion mutants, organism-specific biosystem8p11 myeloproliferative syndrome (EMS) is an aggressive disorder that is associated with a translocation event at the FGFR1 gene on chromosome 8p11. Typical symptoms upon diagnosis include eosinophi...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10063, MGC10947, MGC119738, MGC119739

Gene Ontology Provided by GOA

Component Evidence Code Pubs
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
leucine-rich repeat flightless-interacting protein 1
Names
GC-binding factor 2
LRR FLII-interacting protein 1
NEDD8-conjugating enzyme
TAR RNA-interacting protein
leucine rich repeat (in FLII) interacting protein 1

NCBI Reference Sequences (RefSeq)

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_001137550.1NP_001131022.1  leucine-rich repeat flightless-interacting protein 1 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) differs in the 5' and 3' UTRs, and has multiple coding region differences, compared to variant 3. The resulting isoform (1) has a longer and distinct N-terminus, three additional internal segments and a shorter and distinct C-terminus, compared to isoform 3.
    Source sequence(s)
    AA975133, AC012076, AF115510, BG699031
    Consensus CDS
    CCDS46551.1
    UniProtKB/Swiss-Prot
    Q32MZ4
    Related
    ENSP00000310109.9, OTTHUMP00000164478, ENST00000308482.13, OTTHUMT00000257169
    Conserved Domains (2) summary
    COG1340
    Location:362632
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cl12057
    Location:362439
    Seryl_tRNA_N; Seryl-tRNA synthetase N-terminal domain
  2. NM_001137551.1NP_001131023.1  leucine-rich repeat flightless-interacting protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001131023.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks three internal coding exons and the 3' terminal exon, but has several additional coding exons near to an alternate 3' terminal exon, compared to variant 3. The resulting isoform (2) lacks two internal segments and has a shorter and distinct C-terminus, compared to isoform 3.
    Source sequence(s)
    AA975133, AC012076, AK298270, BE390005
    UniProtKB/TrEMBL
    B4DPC0
    Conserved Domains (1) summary
    pfam09738
    Location:42318
    DUF2051; Double stranded RNA binding protein (DUF2051)
  3. NM_001137552.1NP_001131024.1  leucine-rich repeat flightless-interacting protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001131024.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) encodes the longest isoform (3).
    Source sequence(s)
    AC012076, BC108914, BE390005, BU685896
    Consensus CDS
    CCDS46552.1
    UniProtKB/Swiss-Prot
    Q32MZ4
    Related
    ENSP00000375857.4, OTTHUMP00000196808, ENST00000392000.4, OTTHUMT00000317198
    Conserved Domains (1) summary
    pfam09738
    Location:42314
    DUF2051; Double stranded RNA binding protein (DUF2051)
  4. NM_001137553.1NP_001131025.1  leucine-rich repeat flightless-interacting protein 1 isoform 5

    See identical proteins and their annotated locations for NP_001131025.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks three internal exons in the coding region, but maintains the reading frame, compared to variant 3. The resulting isoform (5) lacks two internal segments, compared to isoform 3.
    Source sequence(s)
    AC012076, BC108913, BE390005, BU685896
    Consensus CDS
    CCDS46553.1
    UniProtKB/Swiss-Prot
    Q32MZ4
    UniProtKB/TrEMBL
    A0A0F7NGI8
    Related
    ENSP00000289175.6, OTTHUMP00000196809, ENST00000289175.10, OTTHUMT00000317199
    Conserved Domains (1) summary
    pfam09738
    Location:42258
    DUF2051; Double stranded RNA binding protein (DUF2051)
  5. NM_004735.3NP_004726.2  leucine-rich repeat flightless-interacting protein 1 isoform 4

    See identical proteins and their annotated locations for NP_004726.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an in-frame exon in the coding region, compared to variant 3. The resulting isoform (4) lacks an internal segment, compared to isoform 3.
    Source sequence(s)
    AC012076, AJ223075, AK307485, BE390005, BU685896
    Consensus CDS
    CCDS2521.1
    UniProtKB/Swiss-Prot
    Q32MZ4
    Related
    ENSP00000244815.5, OTTHUMP00000164477, ENST00000244815.9, OTTHUMT00000257168
    Conserved Domains (1) summary
    pfam09738
    Location:42290
    DUF2051; Double stranded RNA binding protein (DUF2051)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    237627576..237781647
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005253.2XP_016860742.1  leucine-rich repeat flightless-interacting protein 1 isoform X1

  2. XM_017005254.2XP_016860743.1  leucine-rich repeat flightless-interacting protein 1 isoform X2

  3. XM_017005256.2XP_016860745.1  leucine-rich repeat flightless-interacting protein 1 isoform X4

  4. XM_017005258.2XP_016860747.1  leucine-rich repeat flightless-interacting protein 1 isoform X6

  5. XM_017005255.2XP_016860744.1  leucine-rich repeat flightless-interacting protein 1 isoform X3

  6. XM_017005257.2XP_016860746.1  leucine-rich repeat flightless-interacting protein 1 isoform X5

  7. XM_017005260.2XP_016860749.1  leucine-rich repeat flightless-interacting protein 1 isoform X7

  8. XM_017005261.2XP_016860750.1  leucine-rich repeat flightless-interacting protein 1 isoform X8

  9. XM_017005262.2XP_016860751.1  leucine-rich repeat flightless-interacting protein 1 isoform X9

  10. XM_005246142.2XP_005246199.1  leucine-rich repeat flightless-interacting protein 1 isoform X12

    Conserved Domains (1) summary
    pfam09738
    Location:52328
    DUF2051; Double stranded RNA binding protein (DUF2051)
  11. XM_005246141.4XP_005246198.1  leucine-rich repeat flightless-interacting protein 1 isoform X11

    Conserved Domains (1) summary
    pfam09738
    Location:52352
    DUF2051; Double stranded RNA binding protein (DUF2051)
  12. XM_017005263.2XP_016860752.1  leucine-rich repeat flightless-interacting protein 1 isoform X10

RNA

  1. XR_001739039.2 RNA Sequence

  2. XR_001739073.2 RNA Sequence

  3. XR_001739047.2 RNA Sequence

  4. XR_001739044.2 RNA Sequence

  5. XR_001739042.2 RNA Sequence

  6. XR_001739049.2 RNA Sequence

  7. XR_001739056.2 RNA Sequence

  8. XR_001739051.2 RNA Sequence

  9. XR_001739059.2 RNA Sequence

  10. XR_001739041.2 RNA Sequence

  11. XR_001739045.2 RNA Sequence

  12. XR_001739050.2 RNA Sequence

  13. XR_001739052.2 RNA Sequence

  14. XR_001739055.2 RNA Sequence

  15. XR_002959364.1 RNA Sequence

  16. XR_001739071.1 RNA Sequence

  17. XR_001739043.1 RNA Sequence

  18. XR_001739054.1 RNA Sequence

  19. XR_001739060.1 RNA Sequence

  20. XR_001739063.1 RNA Sequence

  21. XR_001739067.1 RNA Sequence

  22. XR_001739046.1 RNA Sequence

  23. XR_001739070.1 RNA Sequence

  24. XR_001739064.1 RNA Sequence

  25. XR_001739072.1 RNA Sequence

  26. XR_001739062.1 RNA Sequence

  27. XR_001739069.1 RNA Sequence

  28. XR_001739065.1 RNA Sequence

  29. XR_001739058.1 RNA Sequence

  30. XR_001739040.1 RNA Sequence

  31. XR_001739048.1 RNA Sequence

  32. XR_001739053.1 RNA Sequence

  33. XR_001739057.1 RNA Sequence

  34. XR_001739066.1 RNA Sequence

  35. XR_001739061.1 RNA Sequence

  36. XR_001739068.1 RNA Sequence

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