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Q8NES3

- LFNG_HUMAN

UniProt

Q8NES3 - LFNG_HUMAN

Protein

Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe

Gene

LFNG

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 113 (01 Oct 2014)
      Sequence version 2 (10 Jan 2003)
      Previous versions | rss
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    Functioni

    Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Decreases the binding of JAGGED1 to NOTCH2 but not that of DELTA1. Essential mediator of somite segmentation and patterning By similarity.By similarity

    Catalytic activityi

    Transfers a beta-D-GlcNAc residue from UDP-D-GlcNAc to the fucose residue of a fucosylated protein acceptor.

    Cofactori

    Manganese.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei86 – 872Cleavage; by furin-like proteaseSequence Analysis
    Binding sitei129 – 1291SubstrateBy similarity
    Binding sitei201 – 2011SubstrateBy similarity
    Metal bindingi202 – 2021ManganeseBy similarity
    Active sitei290 – 2901By similarity
    Metal bindingi314 – 3141ManganeseBy similarity

    GO - Molecular functioni

    1. metal ion binding Source: UniProtKB-KW
    2. O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity Source: UniProt

    GO - Biological processi

    1. compartment pattern specification Source: Ensembl
    2. female meiotic division Source: Ensembl
    3. metabolic process Source: GOC
    4. Notch signaling pathway Source: Reactome
    5. organ morphogenesis Source: UniProtKB
    6. ovarian follicle development Source: Ensembl
    7. positive regulation of Notch signaling pathway Source: Ensembl
    8. positive regulation of protein binding Source: Ensembl
    9. regulation of Notch signaling pathway Source: UniProt
    10. regulation of somitogenesis Source: UniProt
    11. somitogenesis Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein, Glycosyltransferase, Transferase

    Keywords - Ligandi

    Manganese, Metal-binding

    Enzyme and pathway databases

    ReactomeiREACT_118798. Pre-NOTCH Processing in Golgi.
    SignaLinkiQ8NES3.

    Protein family/group databases

    CAZyiGT31. Glycosyltransferase Family 31.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe (EC:2.4.1.222)
    Alternative name(s):
    O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
    Gene namesi
    Name:LFNG
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:6560. LFNG.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular region Source: UniProtKB
    2. integral component of Golgi membrane Source: InterPro

    Keywords - Cellular componenti

    Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Spondylocostal dysostosis 3, autosomal recessive (SCDO3) [MIM:609813]: A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti188 – 1881F → L in SCDO3; not localized to the correct compartment of the cell; unable to modulate Notch signaling in a cell-based assay; enzymatically inactive. 1 Publication
    VAR_025850

    Keywords - Diseasei

    Disease mutation, Dwarfism

    Organism-specific databases

    MIMi609813. phenotype.
    Orphaneti2311. Autosomal recessive spondylocostal dysostosis.
    PharmGKBiPA30336.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 379379Beta-1,3-N-acetylglucosaminyltransferase lunatic fringePRO_0000219176Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi167 – 1671N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi168 ↔ 179By similarity
    Disulfide bondi197 ↔ 260By similarity
    Disulfide bondi364 ↔ 373By similarity

    Post-translational modificationi

    A soluble form may be derived from the membrane form by proteolytic processing.Curated

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ8NES3.
    PRIDEiQ8NES3.

    PTM databases

    PhosphoSiteiQ8NES3.

    Expressioni

    Gene expression databases

    BgeeiQ8NES3.
    CleanExiHS_LFNG.
    GenevestigatoriQ8NES3.

    Interactioni

    Protein-protein interaction databases

    BioGridi110146. 3 interactions.
    STRINGi9606.ENSP00000222725.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NES3.
    SMRiQ8NES3. Positions 114-374.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 88CytoplasmicSequence Analysis
    Topological domaini30 – 379350LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei9 – 2921Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the glycosyltransferase 31 family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG70217.
    HOGENOMiHOG000046678.
    HOVERGENiHBG007986.
    InParanoidiQ8NES3.
    KOiK05948.
    OMAiPWASRGH.
    OrthoDBiEOG7ZSHTD.
    PhylomeDBiQ8NES3.
    TreeFamiTF324207.

    Family and domain databases

    InterProiIPR017374. Fringe.
    IPR003378. Fringe-like.
    [Graphical view]
    PfamiPF02434. Fringe. 1 hit.
    [Graphical view]
    PIRSFiPIRSF038073. B-acetylgalactosaminyltfrase. 1 hit.

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Note: Experimental confirmation may be lacking for some isoforms.

    Isoform 1 (identifier: Q8NES3-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MLKRCGRRLL LALAGALLAC LLVLTADPPP PPLPAERGRR ALRSLAGPAG    50
    AAPAPGLGAA AAAPGALVRD VHSLSEYFSL LTRARRDAGP PPGAAPRPAD 100
    GHPRPLAEPL APRDVFIAVK TTKKFHRARL DLLLETWISR HKEMTFIFTD 150
    GEDEALARHT GNVVITNCSA AHSRQALSCK MAVEYDRFIE SGRKWFCHVD 200
    DDNYVNLRAL LRLLASYPHT RDVYVGKPSL DRPIQAMERV SENKVRPVHF 250
    WFATGGAGFC ISRGLALKMS PWASGGHFMN TAERIRLPDD CTIGYIVEAL 300
    LGVPLIRSGL FHSHLENLQQ VPTSELHEQV TLSYGMFENK RNAVHVKGPF 350
    SVEADPSRFR SIHCHLYPDT PWCPRTAIF 379
    Length:379
    Mass (Da):41,773
    Last modified:January 10, 2003 - v2
    Checksum:i4400ECA731B36B45
    GO
    Isoform 2 (identifier: Q8NES3-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-129: Missing.
         130-145: LDLLLETWISRHKEMT → MTPGRCCLAADIQVET

    Show »
    Length:250
    Mass (Da):28,151
    Checksum:iE09162F8B0016412
    GO
    Isoform 3 (identifier: Q8NES3-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         359-361: FRS → WGN
         362-379: Missing.

    Show »
    Length:361
    Mass (Da):39,588
    Checksum:iAC5CE1662524395B
    GO
    Isoform 4 (identifier: Q8NES3-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-73: MLKRCGRRLL...PGALVRDVHS → MDEQTGRLRL...RSYGGGLSQQ
         74-144: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:308
    Mass (Da):35,266
    Checksum:i2FE290EDD113DD28
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti104 – 1041R → A in AAF07187. 1 PublicationCurated
    Sequence conflicti212 – 2121R → L in AAC51360. (PubMed:9187150)Curated
    Sequence conflicti221 – 2211R → L in AAC51360. (PubMed:9187150)Curated
    Sequence conflicti297 – 2971V → M in BAG53248. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti38 – 381G → R.1 Publication
    VAR_046785
    Natural varianti188 – 1881F → L in SCDO3; not localized to the correct compartment of the cell; unable to modulate Notch signaling in a cell-based assay; enzymatically inactive. 1 Publication
    VAR_025850
    Natural varianti346 – 3461V → M.1 Publication
    Corresponds to variant rs71647813 [ dbSNP | Ensembl ].
    VAR_046786

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 129129Missing in isoform 2. 1 PublicationVSP_001792Add
    BLAST
    Alternative sequencei1 – 7373MLKRC…RDVHS → MDEQTGRLRLDTYCMSAKQI WAWSKCSGRLWDEHMKWMEG WTDRWTDGWMDGWMDEWSPT PALRSYGGGLSQQ in isoform 4. 1 PublicationVSP_044850Add
    BLAST
    Alternative sequencei74 – 14471Missing in isoform 4. 1 PublicationVSP_044851Add
    BLAST
    Alternative sequencei130 – 14516LDLLL…HKEMT → MTPGRCCLAADIQVET in isoform 2. 1 PublicationVSP_001793Add
    BLAST
    Alternative sequencei359 – 3613FRS → WGN in isoform 3. 2 PublicationsVSP_001794
    Alternative sequencei362 – 37918Missing in isoform 3. 2 PublicationsVSP_001795Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK096284 mRNA. Translation: BAG53248.1.
    AC092488 Genomic DNA. No translation available.
    U94354 mRNA. Translation: AAC51360.1.
    AY124582 Genomic DNA. Translation: AAM93542.1.
    AF193612 mRNA. Translation: AAF07187.1.
    BC014851 mRNA. Translation: AAH14851.1.
    CCDSiCCDS34586.1. [Q8NES3-3]
    CCDS34587.1. [Q8NES3-1]
    CCDS55081.1. [Q8NES3-4]
    CCDS55082.1. [Q8NES3-2]
    RefSeqiNP_001035257.1. NM_001040167.1. [Q8NES3-1]
    NP_001035258.1. NM_001040168.1. [Q8NES3-3]
    NP_001159827.1. NM_001166355.1. [Q8NES3-4]
    NP_002295.1. NM_002304.2. [Q8NES3-2]
    UniGeneiHs.159142.

    Genome annotation databases

    EnsembliENST00000222725; ENSP00000222725; ENSG00000106003. [Q8NES3-1]
    ENST00000338732; ENSP00000343095; ENSG00000106003. [Q8NES3-2]
    ENST00000359574; ENSP00000352579; ENSG00000106003. [Q8NES3-3]
    ENST00000402045; ENSP00000384786; ENSG00000106003. [Q8NES3-2]
    ENST00000402506; ENSP00000385764; ENSG00000106003. [Q8NES3-4]
    GeneIDi3955.
    KEGGihsa:3955.
    UCSCiuc003smf.3. human. [Q8NES3-1]
    uc003smg.3. human. [Q8NES3-3]
    uc021zyx.1. human. [Q8NES3-2]

    Polymorphism databases

    DMDMi27734417.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    GGDB

    GlycoGene database

    Functional Glycomics Gateway - GTase

    Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK096284 mRNA. Translation: BAG53248.1 .
    AC092488 Genomic DNA. No translation available.
    U94354 mRNA. Translation: AAC51360.1 .
    AY124582 Genomic DNA. Translation: AAM93542.1 .
    AF193612 mRNA. Translation: AAF07187.1 .
    BC014851 mRNA. Translation: AAH14851.1 .
    CCDSi CCDS34586.1. [Q8NES3-3 ]
    CCDS34587.1. [Q8NES3-1 ]
    CCDS55081.1. [Q8NES3-4 ]
    CCDS55082.1. [Q8NES3-2 ]
    RefSeqi NP_001035257.1. NM_001040167.1. [Q8NES3-1 ]
    NP_001035258.1. NM_001040168.1. [Q8NES3-3 ]
    NP_001159827.1. NM_001166355.1. [Q8NES3-4 ]
    NP_002295.1. NM_002304.2. [Q8NES3-2 ]
    UniGenei Hs.159142.

    3D structure databases

    ProteinModelPortali Q8NES3.
    SMRi Q8NES3. Positions 114-374.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110146. 3 interactions.
    STRINGi 9606.ENSP00000222725.

    Protein family/group databases

    CAZyi GT31. Glycosyltransferase Family 31.

    PTM databases

    PhosphoSitei Q8NES3.

    Polymorphism databases

    DMDMi 27734417.

    Proteomic databases

    PaxDbi Q8NES3.
    PRIDEi Q8NES3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000222725 ; ENSP00000222725 ; ENSG00000106003 . [Q8NES3-1 ]
    ENST00000338732 ; ENSP00000343095 ; ENSG00000106003 . [Q8NES3-2 ]
    ENST00000359574 ; ENSP00000352579 ; ENSG00000106003 . [Q8NES3-3 ]
    ENST00000402045 ; ENSP00000384786 ; ENSG00000106003 . [Q8NES3-2 ]
    ENST00000402506 ; ENSP00000385764 ; ENSG00000106003 . [Q8NES3-4 ]
    GeneIDi 3955.
    KEGGi hsa:3955.
    UCSCi uc003smf.3. human. [Q8NES3-1 ]
    uc003smg.3. human. [Q8NES3-3 ]
    uc021zyx.1. human. [Q8NES3-2 ]

    Organism-specific databases

    CTDi 3955.
    GeneCardsi GC07P002552.
    GeneReviewsi LFNG.
    HGNCi HGNC:6560. LFNG.
    MIMi 602576. gene.
    609813. phenotype.
    neXtProti NX_Q8NES3.
    Orphaneti 2311. Autosomal recessive spondylocostal dysostosis.
    PharmGKBi PA30336.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG70217.
    HOGENOMi HOG000046678.
    HOVERGENi HBG007986.
    InParanoidi Q8NES3.
    KOi K05948.
    OMAi PWASRGH.
    OrthoDBi EOG7ZSHTD.
    PhylomeDBi Q8NES3.
    TreeFami TF324207.

    Enzyme and pathway databases

    Reactomei REACT_118798. Pre-NOTCH Processing in Golgi.
    SignaLinki Q8NES3.

    Miscellaneous databases

    ChiTaRSi LFNG. human.
    GeneWikii LFNG.
    GenomeRNAii 3955.
    NextBioi 15517.
    PROi Q8NES3.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8NES3.
    CleanExi HS_LFNG.
    Genevestigatori Q8NES3.

    Family and domain databases

    InterProi IPR017374. Fringe.
    IPR003378. Fringe-like.
    [Graphical view ]
    Pfami PF02434. Fringe. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF038073. B-acetylgalactosaminyltfrase. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
    2. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "A family of mammalian Fringe genes implicated in boundary determination and the Notch pathway."
      Johnston S.H., Rauskolb C., Wilson R., Prabhakaran B., Irvine K.D., Vogt T.F.
      Development 124:2245-2254(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 105-361 (ISOFORM 3).
    4. "Clock regulatory elements control cyclic expression of Lunatic fringe during somitogenesis."
      Cole S.E., Levorse J.M., Tilghman S.M., Vogt T.F.
      Dev. Cell 3:75-84(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-144 (ISOFORM 1).
    5. "Homo sapiens fringe gene homolog."
      Holloway J., Blumberg H., Jelinek L., Whitmore T., Jaspers S., Gross J., Haldeman B., Taft D., O'Hara P.
      Submitted (NOV-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 104-361 (ISOFORM 3).
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Kidney.
    7. "Manic fringe and lunatic fringe modify different sites of the Notch2 extracellular region, resulting in different signaling modulation."
      Shimizu K., Chiba S., Saito T., Kumano K., Takahashi T., Hirai H.
      J. Biol. Chem. 276:25753-25758(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION.
    8. "Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype."
      Sparrow D.B., Chapman G., Wouters M.A., Whittock N.V., Ellard S., Fatkin D., Turnpenny P.D., Kusumi K., Sillence D., Dunwoodie S.L.
      Am. J. Hum. Genet. 78:28-37(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SCDO3 LEU-188, CHARACTERIZATION OF VARIANT SCDO3 LEU-188.
    9. Cited for: VARIANTS ARG-38 AND MET-346.

    Entry informationi

    Entry nameiLFNG_HUMAN
    AccessioniPrimary (citable) accession number: Q8NES3
    Secondary accession number(s): B3KTY6
    , B5MCR5, O00589, Q96C39, Q9UJW5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 10, 2003
    Last sequence update: January 10, 2003
    Last modified: October 1, 2014
    This is version 113 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 7
      Human chromosome 7: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3