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

    Gene ID: 9208, updated on 3-Nov-2024

    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; AllianceGenome:HGNC:6702
    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
    Summary
    Enables DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and protein homodimerization activity. Involved in negative regulation of transcription by RNA polymerase II. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in lung (RPKM 14.3), bone marrow (RPKM 12.6) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See LRRFIP1 in Genome Data Viewer
    Location:
    2q37.3
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (237627587..237781643)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (238117567..238271644)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (238536230..238690286)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238483169-238483868 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:238485267-238485965 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:238490210-238490844 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:238503899-238504617 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238504725-238505226 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:238512736-238513239 Neighboring gene RAB17, member RAS oncogene family Neighboring gene RAB17 divergent transcript Neighboring gene VISTA enhancer hs1945 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238539637-238540136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238540139-238540700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238558724-238559224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238559225-238559725 Neighboring gene NANOG hESC enhancer GRCh37_chr2:238571326-238571867 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238572854-238573422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238581723-238582348 Neighboring gene Sharpr-MPRA regulatory region 636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:238583717-238584263 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238595001-238595502 Neighboring gene uncharacterized LOC124906128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238595503-238596002 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:238599723-238600598 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12480 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17371 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17372 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17373 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17374 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:238611455-238612335 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:238612336-238613215 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238626179-238626695 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238630967-238631468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238631469-238631968 Neighboring gene Sharpr-MPRA regulatory region 7631 Neighboring gene Sharpr-MPRA regulatory region 7730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238653055-238653580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17376 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:238671072-238671284 Neighboring gene RNA binding motif protein 44 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238766078-238766866 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238766867-238767653 Neighboring gene small nucleolar RNA SNORD55/SNORD39 Neighboring gene receptor activity modifying protein 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A variant in the LRRFIP1 gene is associated with adiposity and inflammation.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ10063, MGC10947, MGC119738, MGC119739

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in 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)

    NEW Try the new Transcript table

    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_001137550.2NP_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, ENST00000308482.14
      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_001137551.2NP_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 (2) summary
      pfam09738
      Location:42319
      LRRFIP; LRRFIP family
      pfam11932
      Location:335394
      DUF3450; Protein of unknown function (DUF3450)
    3. NM_001137552.2NP_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
      E9PGZ2, O75766, O75799, Q32MZ4, Q32MZ5, Q53T49, Q6PKG2, Q9Y607
      Related
      ENSP00000375857.4, ENST00000392000.4
      Conserved Domains (1) summary
      pfam09738
      Location:42314
      DUF2051; Double stranded RNA binding protein (DUF2051)
    4. NM_001137553.2NP_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/TrEMBL
      A0A0F7NGI8
      Related
      ENSP00000289175.6, ENST00000289175.10
      Conserved Domains (1) summary
      pfam09738
      Location:42258
      DUF2051; Double stranded RNA binding protein (DUF2051)
    5. NM_004735.4NP_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, ENST00000244815.9
      Conserved Domains (1) summary
      pfam09738
      Location:42290
      DUF2051; Double stranded RNA binding protein (DUF2051)

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      237627587..237781643
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017005257.3XP_016860746.1  leucine-rich repeat flightless-interacting protein 1 isoform X34

    2. XM_017005260.3XP_016860749.1  leucine-rich repeat flightless-interacting protein 1 isoform X35

    3. XM_017005262.3XP_016860751.1  leucine-rich repeat flightless-interacting protein 1 isoform X36

    4. XM_005246141.5XP_005246198.1  leucine-rich repeat flightless-interacting protein 1 isoform X42

      Conserved Domains (1) summary
      pfam09738
      Location:52352
      DUF2051; Double stranded RNA binding protein (DUF2051)
    5. XM_017005263.3XP_016860752.1  leucine-rich repeat flightless-interacting protein 1 isoform X38

      UniProtKB/TrEMBL
      A0A8V8TLX7
    6. XM_005246142.3XP_005246199.1  leucine-rich repeat flightless-interacting protein 1 isoform X45

      Conserved Domains (1) summary
      pfam09738
      Location:52328
      DUF2051; Double stranded RNA binding protein (DUF2051)
    7. XM_047446293.1XP_047302249.1  leucine-rich repeat flightless-interacting protein 1 isoform X1

    8. XM_047446295.1XP_047302251.1  leucine-rich repeat flightless-interacting protein 1 isoform X3

    9. XM_047446303.1XP_047302259.1  leucine-rich repeat flightless-interacting protein 1 isoform X11

    10. XM_047446297.1XP_047302253.1  leucine-rich repeat flightless-interacting protein 1 isoform X5

    11. XM_047446306.1XP_047302262.1  leucine-rich repeat flightless-interacting protein 1 isoform X14

    12. XM_047446294.1XP_047302250.1  leucine-rich repeat flightless-interacting protein 1 isoform X2

    13. XM_047446296.1XP_047302252.1  leucine-rich repeat flightless-interacting protein 1 isoform X4

    14. XM_047446299.1XP_047302255.1  leucine-rich repeat flightless-interacting protein 1 isoform X7

    15. XM_047446312.1XP_047302268.1  leucine-rich repeat flightless-interacting protein 1 isoform X20

    16. XM_047446298.1XP_047302254.1  leucine-rich repeat flightless-interacting protein 1 isoform X6

    17. XM_047446309.1XP_047302265.1  leucine-rich repeat flightless-interacting protein 1 isoform X17

    18. XM_047446302.1XP_047302258.1  leucine-rich repeat flightless-interacting protein 1 isoform X10

    19. XM_047446317.1XP_047302273.1  leucine-rich repeat flightless-interacting protein 1 isoform X25

    20. XM_047446310.1XP_047302266.1  leucine-rich repeat flightless-interacting protein 1 isoform X18

    21. XM_047446318.1XP_047302274.1  leucine-rich repeat flightless-interacting protein 1 isoform X26

    22. XM_047446301.1XP_047302257.1  leucine-rich repeat flightless-interacting protein 1 isoform X9

    23. XM_047446316.1XP_047302272.1  leucine-rich repeat flightless-interacting protein 1 isoform X24

    24. XM_047446322.1XP_047302278.1  leucine-rich repeat flightless-interacting protein 1 isoform X30

    25. XM_047446307.1XP_047302263.1  leucine-rich repeat flightless-interacting protein 1 isoform X15

    26. XM_047446323.1XP_047302279.1  leucine-rich repeat flightless-interacting protein 1 isoform X31

    27. XM_047446315.1XP_047302271.1  leucine-rich repeat flightless-interacting protein 1 isoform X23

    28. XM_047446325.1XP_047302281.1  leucine-rich repeat flightless-interacting protein 1 isoform X33

    29. XM_047446326.1XP_047302282.1  leucine-rich repeat flightless-interacting protein 1 isoform X37

    30. XM_047446328.1XP_047302284.1  leucine-rich repeat flightless-interacting protein 1 isoform X40

    31. XM_047446329.1XP_047302285.1  leucine-rich repeat flightless-interacting protein 1 isoform X41

    32. XM_047446327.1XP_047302283.1  leucine-rich repeat flightless-interacting protein 1 isoform X39

    33. XM_047446330.1XP_047302286.1  leucine-rich repeat flightless-interacting protein 1 isoform X43

    34. XM_047446331.1XP_047302287.1  leucine-rich repeat flightless-interacting protein 1 isoform X44

    35. XM_047446314.1XP_047302270.1  leucine-rich repeat flightless-interacting protein 1 isoform X22

    36. XM_047446305.1XP_047302261.1  leucine-rich repeat flightless-interacting protein 1 isoform X13

    37. XM_047446320.1XP_047302276.1  leucine-rich repeat flightless-interacting protein 1 isoform X28

    38. XM_047446300.1XP_047302256.1  leucine-rich repeat flightless-interacting protein 1 isoform X8

    39. XM_047446313.1XP_047302269.1  leucine-rich repeat flightless-interacting protein 1 isoform X21

    40. XM_047446321.1XP_047302277.1  leucine-rich repeat flightless-interacting protein 1 isoform X29

    41. XM_047446304.1XP_047302260.1  leucine-rich repeat flightless-interacting protein 1 isoform X12

    42. XM_047446308.1XP_047302264.1  leucine-rich repeat flightless-interacting protein 1 isoform X16

    43. XM_047446311.1XP_047302267.1  leucine-rich repeat flightless-interacting protein 1 isoform X19

    44. XM_047446324.1XP_047302280.1  leucine-rich repeat flightless-interacting protein 1 isoform X32

    45. XM_047446319.1XP_047302275.1  leucine-rich repeat flightless-interacting protein 1 isoform X27

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      238117567..238271644
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344541.1XP_054200516.1  leucine-rich repeat flightless-interacting protein 1 isoform X34

    2. XM_054344542.1XP_054200517.1  leucine-rich repeat flightless-interacting protein 1 isoform X35

    3. XM_054344543.1XP_054200518.1  leucine-rich repeat flightless-interacting protein 1 isoform X36

    4. XM_054344549.1XP_054200524.1  leucine-rich repeat flightless-interacting protein 1 isoform X42

    5. XM_054344545.1XP_054200520.1  leucine-rich repeat flightless-interacting protein 1 isoform X38

    6. XM_054344552.1XP_054200527.1  leucine-rich repeat flightless-interacting protein 1 isoform X45

    7. XM_054344508.1XP_054200483.1  leucine-rich repeat flightless-interacting protein 1 isoform X1

    8. XM_054344510.1XP_054200485.1  leucine-rich repeat flightless-interacting protein 1 isoform X3

    9. XM_054344518.1XP_054200493.1  leucine-rich repeat flightless-interacting protein 1 isoform X11

    10. XM_054344512.1XP_054200487.1  leucine-rich repeat flightless-interacting protein 1 isoform X5

    11. XM_054344521.1XP_054200496.1  leucine-rich repeat flightless-interacting protein 1 isoform X14

    12. XM_054344509.1XP_054200484.1  leucine-rich repeat flightless-interacting protein 1 isoform X2

    13. XM_054344511.1XP_054200486.1  leucine-rich repeat flightless-interacting protein 1 isoform X4

    14. XM_054344514.1XP_054200489.1  leucine-rich repeat flightless-interacting protein 1 isoform X7

    15. XM_054344527.1XP_054200502.1  leucine-rich repeat flightless-interacting protein 1 isoform X20

    16. XM_054344513.1XP_054200488.1  leucine-rich repeat flightless-interacting protein 1 isoform X6

    17. XM_054344524.1XP_054200499.1  leucine-rich repeat flightless-interacting protein 1 isoform X17

    18. XM_054344517.1XP_054200492.1  leucine-rich repeat flightless-interacting protein 1 isoform X10

    19. XM_054344532.1XP_054200507.1  leucine-rich repeat flightless-interacting protein 1 isoform X25

    20. XM_054344525.1XP_054200500.1  leucine-rich repeat flightless-interacting protein 1 isoform X18

    21. XM_054344533.1XP_054200508.1  leucine-rich repeat flightless-interacting protein 1 isoform X26

    22. XM_054344516.1XP_054200491.1  leucine-rich repeat flightless-interacting protein 1 isoform X9

    23. XM_054344531.1XP_054200506.1  leucine-rich repeat flightless-interacting protein 1 isoform X24

    24. XM_054344537.1XP_054200512.1  leucine-rich repeat flightless-interacting protein 1 isoform X30

    25. XM_054344522.1XP_054200497.1  leucine-rich repeat flightless-interacting protein 1 isoform X15

    26. XM_054344538.1XP_054200513.1  leucine-rich repeat flightless-interacting protein 1 isoform X31

    27. XM_054344530.1XP_054200505.1  leucine-rich repeat flightless-interacting protein 1 isoform X23

    28. XM_054344540.1XP_054200515.1  leucine-rich repeat flightless-interacting protein 1 isoform X33

    29. XM_054344544.1XP_054200519.1  leucine-rich repeat flightless-interacting protein 1 isoform X37

    30. XM_054344547.1XP_054200522.1  leucine-rich repeat flightless-interacting protein 1 isoform X40

    31. XM_054344548.1XP_054200523.1  leucine-rich repeat flightless-interacting protein 1 isoform X41

    32. XM_054344546.1XP_054200521.1  leucine-rich repeat flightless-interacting protein 1 isoform X39

    33. XM_054344550.1XP_054200525.1  leucine-rich repeat flightless-interacting protein 1 isoform X43

    34. XM_054344551.1XP_054200526.1  leucine-rich repeat flightless-interacting protein 1 isoform X44

    35. XM_054344529.1XP_054200504.1  leucine-rich repeat flightless-interacting protein 1 isoform X22

    36. XM_054344520.1XP_054200495.1  leucine-rich repeat flightless-interacting protein 1 isoform X13

    37. XM_054344535.1XP_054200510.1  leucine-rich repeat flightless-interacting protein 1 isoform X28

    38. XM_054344515.1XP_054200490.1  leucine-rich repeat flightless-interacting protein 1 isoform X8

    39. XM_054344528.1XP_054200503.1  leucine-rich repeat flightless-interacting protein 1 isoform X21

    40. XM_054344536.1XP_054200511.1  leucine-rich repeat flightless-interacting protein 1 isoform X29

    41. XM_054344519.1XP_054200494.1  leucine-rich repeat flightless-interacting protein 1 isoform X12

    42. XM_054344523.1XP_054200498.1  leucine-rich repeat flightless-interacting protein 1 isoform X16

    43. XM_054344526.1XP_054200501.1  leucine-rich repeat flightless-interacting protein 1 isoform X19

    44. XM_054344539.1XP_054200514.1  leucine-rich repeat flightless-interacting protein 1 isoform X32

    45. XM_054344534.1XP_054200509.1  leucine-rich repeat flightless-interacting protein 1 isoform X27