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O94856

- NFASC_HUMAN

UniProt

O94856 - NFASC_HUMAN

Protein

Neurofascin

Gene

NFASC

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 136 (01 Oct 2014)
      Sequence version 4 (06 Dec 2005)
      Previous versions | rss
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    Functioni

    Cell adhesion, ankyrin-binding protein which may be involved in neurite extension, axonal guidance, synaptogenesis, myelination and neuron-glial cell interactions.By similarity

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. axon guidance Source: Reactome
    2. clustering of voltage-gated sodium channels Source: Ensembl
    3. heterotypic cell-cell adhesion Source: Ensembl
    4. myelination Source: BHF-UCL
    5. paranodal junction assembly Source: Ensembl
    6. peripheral nervous system development Source: BHF-UCL
    7. protein localization to juxtaparanode region of axon Source: Ensembl
    8. protein localization to paranode region of axon Source: Ensembl
    9. synapse organization Source: Ensembl
    10. transmission of nerve impulse Source: Ensembl

    Keywords - Biological processi

    Cell adhesion

    Enzyme and pathway databases

    ReactomeiREACT_22266. Interaction between L1 and Ankyrins.
    REACT_22312. Neurofascin interactions.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Neurofascin
    Gene namesi
    Name:NFASC
    Synonyms:KIAA0756
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:29866. NFASC.

    Subcellular locationi

    GO - Cellular componenti

    1. axon initial segment Source: BHF-UCL
    2. extracellular vesicular exosome Source: UniProt
    3. integral component of membrane Source: UniProtKB-KW
    4. intracellular Source: BHF-UCL
    5. node of Ranvier Source: BHF-UCL
    6. paranodal junction Source: Ensembl
    7. paranode region of axon Source: Ensembl
    8. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA128395771.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2424Sequence AnalysisAdd
    BLAST
    Chaini25 – 13471323NeurofascinPRO_0000015049Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi63 ↔ 1181 PublicationPROSITE-ProRule annotation
    Disulfide bondi162 ↔ 2131 PublicationPROSITE-ProRule annotation
    Disulfide bondi268 ↔ 3161 PublicationPROSITE-ProRule annotation
    Glycosylationi305 – 3051N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi358 ↔ 4081 PublicationPROSITE-ProRule annotation
    Glycosylationi409 – 4091N-linked (GlcNAc...)1 Publication
    Glycosylationi446 – 4461N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi452 ↔ 501PROSITE-ProRule annotation
    Modified residuei481 – 4811Phosphotyrosine1 Publication
    Glycosylationi483 – 4831N-linked (GlcNAc...)Sequence Analysis
    Modified residuei485 – 4851Phosphoserine1 Publication
    Disulfide bondi543 ↔ 592PROSITE-ProRule annotation
    Glycosylationi752 – 7521N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi778 – 7781N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi973 – 9731N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi988 – 9881N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiO94856.
    PaxDbiO94856.
    PRIDEiO94856.

    PTM databases

    PhosphoSiteiO94856.

    Expressioni

    Gene expression databases

    ArrayExpressiO94856.
    BgeeiO94856.
    GenevestigatoriO94856.

    Organism-specific databases

    HPAiHPA008832.

    Interactioni

    Subunit structurei

    Horseshoe-shaped homodimer. Probable constituent of a neurofascin/NRCAM/ankyrin-G complex. Associates with the sodium channel beta-1 (SCN1B) and beta-3 (SCN3B) subunits. Interacts with GLDN/gliomedin By similarity. Interacts with MYOC.By similarity2 Publications

    Protein-protein interaction databases

    BioGridi116737. 1 interaction.
    IntActiO94856. 5 interactions.

    Structurei

    Secondary structure

    1
    1347
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi43 – 464
    Beta strandi49 – 535
    Beta strandi55 – 573
    Beta strandi63 – 653
    Beta strandi72 – 776
    Helixi84 – 863
    Beta strandi94 – 963
    Turni104 – 1063
    Helixi109 – 1124
    Beta strandi114 – 1218
    Beta strandi126 – 13611
    Beta strandi150 – 1534
    Beta strandi158 – 1603
    Beta strandi172 – 1765
    Beta strandi187 – 1915
    Beta strandi197 – 2015
    Helixi205 – 2073
    Beta strandi211 – 2166
    Turni218 – 2203
    Beta strandi223 – 2253
    Beta strandi231 – 2344
    Beta strandi236 – 2383
    Beta strandi246 – 2494
    Beta strandi251 – 2599
    Beta strandi264 – 2674
    Beta strandi277 – 2826
    Turni289 – 2913
    Beta strandi292 – 2954
    Helixi296 – 2983
    Beta strandi300 – 3056
    Helixi308 – 3103
    Beta strandi312 – 3198
    Beta strandi324 – 34118
    Beta strandi346 – 3483
    Beta strandi354 – 3574
    Beta strandi359 – 3646
    Beta strandi367 – 3726
    Helixi377 – 3793
    Beta strandi386 – 3894
    Beta strandi392 – 3976
    Beta strandi405 – 4128
    Beta strandi415 – 42511

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3P3YX-ray2.60A25-428[»]
    3P40X-ray3.20A25-428[»]
    ProteinModelPortaliO94856.
    SMRiO94856. Positions 37-1036.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiO94856.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini25 – 12171193ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1239 – 1347109CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei1218 – 123821HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini41 – 13797Ig-like C2-type 1Add
    BLAST
    Domaini143 – 23088Ig-like C2-type 2Add
    BLAST
    Domaini244 – 33289Ig-like C2-type 3Add
    BLAST
    Domaini337 – 42488Ig-like C2-type 4Add
    BLAST
    Domaini429 – 51789Ig-like C2-type 5Add
    BLAST
    Domaini521 – 60383Ig-like C2-type 6Add
    BLAST
    Domaini630 – 72596Fibronectin type-III 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini730 – 82394Fibronectin type-III 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini828 – 930103Fibronectin type-III 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini934 – 103097Fibronectin type-III 4PROSITE-ProRule annotationAdd
    BLAST
    Domaini1114 – 120693Fibronectin type-III 5PROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi1031 – 110878Thr-richAdd
    BLAST

    Domaini

    Homophilic adhesion is primarily mediated by the interaction of the second Ig-like domains.

    Sequence similaritiesi

    Contains 5 fibronectin type-III domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG293951.
    HOVERGENiHBG000144.
    KOiK06757.
    OrthoDBiEOG7R56RM.
    PhylomeDBiO94856.
    TreeFamiTF351098.

    Family and domain databases

    Gene3Di2.60.40.10. 11 hits.
    InterProiIPR003961. Fibronectin_type3.
    IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR013098. Ig_I-set.
    IPR003599. Ig_sub.
    IPR003598. Ig_sub2.
    IPR026966. Neurofascin/L1/NrCAM_C.
    IPR026965. NFASC.
    [Graphical view]
    PANTHERiPTHR10489:SF41. PTHR10489:SF41. 1 hit.
    PfamiPF13882. Bravo_FIGEY. 1 hit.
    PF00041. fn3. 5 hits.
    PF07679. I-set. 5 hits.
    [Graphical view]
    SMARTiSM00060. FN3. 5 hits.
    SM00409. IG. 2 hits.
    SM00408. IGc2. 4 hits.
    [Graphical view]
    SUPFAMiSSF49265. SSF49265. 3 hits.
    PROSITEiPS50853. FN3. 5 hits.
    PS50835. IG_LIKE. 6 hits.
    [Graphical view]

    Sequences (13)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 13 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O94856-1) [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

    MARQPPPPWV HAAFLLCLLS LGGAIEIPMD PSIQNELTQP PTITKQSAKD     50
    HIVDPRDNIL IECEAKGNPA PSFHWTRNSR FFNIAKDPRV SMRRRSGTLV 100
    IDFRSGGRPE EYEGEYQCFA RNKFGTALSN RIRLQVSKSP LWPKENLDPV 150
    VVQEGAPLTL QCNPPPGLPS PVIFWMSSSM EPITQDKRVS QGHNGDLYFS 200
    NVMLQDMQTD YSCNARFHFT HTIQQKNPFT LKVLTTRGVA ERTPSFMYPQ 250
    GTASSQMVLR GMDLLLECIA SGVPTPDIAW YKKGGDLPSD KAKFENFNKA 300
    LRITNVSEED SGEYFCLASN KMGSIRHTIS VRVKAAPYWL DEPKNLILAP 350
    GEDGRLVCRA NGNPKPTVQW MVNGEPLQSA PPNPNREVAG DTIIFRDTQI 400
    SSRAVYQCNT SNEHGYLLAN AFVSVLDVPP RMLSPRNQLI RVILYNRTRL 450
    DCPFFGSPIP TLRWFKNGQG SNLDGGNYHV YENGSLEIKM IRKEDQGIYT 500
    CVATNILGKA ENQVRLEVKD PTRIYRMPED QVARRGTTVQ LECRVKHDPS 550
    LKLTVSWLKD DEPLYIGNRM KKEDDSLTIF GVAERDQGSY TCVASTELDQ 600
    DLAKAYLTVL ADQATPTNRL AALPKGRPDR PRDLELTDLA ERSVRLTWIP 650
    GDANNSPITD YVVQFEEDQF QPGVWHDHSK YPGSVNSAVL RLSPYVNYQF 700
    RVIAINEVGS SHPSLPSERY RTSGAPPESN PGDVKGEGTR KNNMEITWTP 750
    MNATSAFGPN LRYIVKWRRR ETREAWNNVT VWGSRYVVGQ TPVYVPYEIR 800
    VQAENDFGKG PEPESVIGYS GEDYPRAAPT EVKVRVMNST AISLQWNRVY 850
    SDTVQGQLRE YRAYYWRESS LLKNLWVSQK RQQASFPGDR LRGVVSRLFP 900
    YSNYKLEMVV VNGRGDGPRS ETKEFTTPEG VPSAPRRFRV RQPNLETINL 950
    EWDHPEHPNG IMIGYTLKYV AFNGTKVGKQ IVENFSPNQT KFTVQRTDPV 1000
    SRYRFTLSAR TQVGSGEAVT EESPAPPNEA TPTAAPPTLP PTTVGATGAV 1050
    SSTDATAIAA TTEATTVPII PTVAPTTIAT TTTVATTTTT TAAATTTTES 1100
    PPTTTSGTKI HESAPDEQSI WNVTVLPNSK WANITWKHNF GPGTDFVVEY 1150
    IDSNHTKKTV PVKAQAQPIQ LTDLYPGMTY TLRVYSRDNE GISSTVITFM 1200
    TSTAYTNNQA DIATQGWFIG LMCAIALLVL ILLIVCFIKR SRGGKYPVRE 1250
    KKDVPLGPED PKEEDGSFDY SDEDNKPLQG SQTSLDGTIK QQESDDSLVD 1300
    YGEGGEGQFN EDGSFIGQYT VKKDKEETEG NESSEATSPV NAIYSLA 1347

    Note: No experimental confirmation available.

    Length:1,347
    Mass (Da):150,027
    Last modified:December 6, 2005 - v4
    Checksum:i4DC555E5AA06C223
    GO
    Isoform 2 (identifier: O94856-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         611-619: ADQATPTNR → GNCPCSPWH
         620-1347: Missing.

    Note: May be due to intron retention.

    Show »
    Length:619
    Mass (Da):69,565
    Checksum:i19677F073EA3925E
    GO
    Isoform 3 (identifier: O94856-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         31-36: Missing.
         236-236: T → NHPYNDSSLRNHPDMYSA
         611-625: Missing.
         1030-1203: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,169
    Mass (Da):131,669
    Checksum:i227C4122ABA8EDAD
    GO
    Isoform 4 (identifier: O94856-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         824-930: Missing.
         931-931: V → L
         1030-1203: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,066
    Mass (Da):119,470
    Checksum:iB254170D9F282A75
    GO
    Isoform 5 (identifier: O94856-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         611-625: Missing.
         1030-1043: ATPTAAPPTLPPTT → GRCMAAAPGVKGPS

    Note: May be due to intron retention.

    Show »
    Length:1,332
    Mass (Da):148,444
    Checksum:iC8EB8885620764DF
    GO
    Isoform 6 (identifier: O94856-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1030-1152: Missing.
         1153-1153: S → G

    Note: No experimental confirmation available.

    Show »
    Length:1,224
    Mass (Da):137,531
    Checksum:i345949AF7828A247
    GO
    Isoform 7 (identifier: O94856-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1114-1203: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,257
    Mass (Da):139,881
    Checksum:i4E9F5630EAB43566
    GO
    Isoform 8 (identifier: O94856-8) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         31-36: Missing.
         236-236: T → NHPYNDSSLRNHPDMYSA
         611-625: Missing.
         1035-1203: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,174
    Mass (Da):132,111
    Checksum:iB298E5CBDF6A66B6
    GO
    Isoform 9 (identifier: O94856-9) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         824-930: Missing.
         931-931: V → L

    Note: No experimental confirmation available.

    Show »
    Length:1,240
    Mass (Da):137,609
    Checksum:i2A894288EB12B706
    GO
    Isoform 10 (identifier: O94856-10) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         31-36: Missing.
         611-625: Missing.
         1035-1203: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,157
    Mass (Da):130,112
    Checksum:iFD0DE3EBAA072F1F
    GO
    Isoform 11 (identifier: O94856-11) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         31-36: Missing.
         236-236: T → NHPYNDSSLRNHPDMYSA
         1035-1203: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,189
    Mass (Da):133,659
    Checksum:i0D8B3BD1CF541D66
    GO
    Isoform 12 (identifier: O94856-12) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         824-930: Missing.
         931-931: V → L
         1035-1203: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,071
    Mass (Da):119,911
    Checksum:i8D23FD7B6D7A4EE0
    GO
    Isoform 13 (identifier: O94856-13) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1035-1113: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,268
    Mass (Da):142,474
    Checksum:i860AFD7BD11A1BFE
    GO

    Sequence cautioni

    The sequence BAA34476.3 differs from that shown. Reason: Erroneous initiation.
    The sequence BAB55195.1 differs from that shown. Reason: Erroneous initiation.
    The sequence BAC87577.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti807 – 8071F → L in BAB55195. (PubMed:14702039)Curated
    Sequence conflicti972 – 9721F → V in AK127424. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti159 – 1591T → M.
    Corresponds to variant rs3795564 [ dbSNP | Ensembl ].
    VAR_017251

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei31 – 366Missing in isoform 3, isoform 8, isoform 10 and isoform 11. 2 PublicationsVSP_016424
    Alternative sequencei236 – 2361T → NHPYNDSSLRNHPDMYSA in isoform 3, isoform 8 and isoform 11. 2 PublicationsVSP_016425
    Alternative sequencei611 – 62515Missing in isoform 3, isoform 5, isoform 8 and isoform 10. 3 PublicationsVSP_008937Add
    BLAST
    Alternative sequencei611 – 6199ADQATPTNR → GNCPCSPWH in isoform 2. 2 PublicationsVSP_016426
    Alternative sequencei620 – 1347728Missing in isoform 2. 2 PublicationsVSP_008938Add
    BLAST
    Alternative sequencei824 – 930107Missing in isoform 4, isoform 9 and isoform 12. 1 PublicationVSP_016427Add
    BLAST
    Alternative sequencei931 – 9311V → L in isoform 4, isoform 9 and isoform 12. 1 PublicationVSP_016428
    Alternative sequencei1030 – 1203174Missing in isoform 3 and isoform 4. 2 PublicationsVSP_008940Add
    BLAST
    Alternative sequencei1030 – 1152123Missing in isoform 6. 1 PublicationVSP_016430Add
    BLAST
    Alternative sequencei1030 – 104314ATPTA…LPPTT → GRCMAAAPGVKGPS in isoform 5. 1 PublicationVSP_016429Add
    BLAST
    Alternative sequencei1035 – 1203169Missing in isoform 8, isoform 10, isoform 11 and isoform 12. CuratedVSP_016432Add
    BLAST
    Alternative sequencei1035 – 111379Missing in isoform 13. CuratedVSP_016431Add
    BLAST
    Alternative sequencei1114 – 120390Missing in isoform 7. 1 PublicationVSP_016433Add
    BLAST
    Alternative sequencei1153 – 11531S → G in isoform 6. 1 PublicationVSP_016434

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB018299 mRNA. Translation: BAA34476.3. Different initiation.
    AK027553 mRNA. Translation: BAB55195.1. Different initiation.
    AK090639 mRNA. Translation: BAG52203.1.
    AK127424 mRNA. No translation available.
    AK128699 mRNA. Translation: BAC87577.1. Different initiation.
    AC096675 Genomic DNA. No translation available.
    AL391822 Genomic DNA. Translation: CAI14656.1.
    AL391822 Genomic DNA. Translation: CAI14657.1.
    AL391822 Genomic DNA. Translation: CAI14658.1.
    AL391822 Genomic DNA. Translation: CAI14659.1.
    AL391822 Genomic DNA. Translation: CAI14660.1.
    AL391822 Genomic DNA. Translation: CAI14661.1.
    AL391822 Genomic DNA. Translation: CAI14662.1.
    AL391822 Genomic DNA. Translation: CAI14664.1.
    AL391822 Genomic DNA. Translation: CAI14665.1.
    AL391822 Genomic DNA. Translation: CAI14666.1.
    AL391822 Genomic DNA. Translation: CAI14667.1.
    BC008124 mRNA. Translation: AAH08124.2.
    BC117674 mRNA. Translation: AAI17675.2.
    BC137013 mRNA. Translation: AAI37014.1.
    BC144454 mRNA. Translation: AAI44455.1.
    AB177861 mRNA. Translation: BAD66839.1.
    BX537841 mRNA. Translation: CAD97852.1.
    CR749402 mRNA. Translation: CAH18247.1.
    CCDSiCCDS30982.1. [O94856-3]
    CCDS53460.1. [O94856-9]
    CCDS53461.1. [O94856-2]
    CCDS53462.1. [O94856-8]
    RefSeqiNP_001005388.2. NM_001005388.2. [O94856-9]
    NP_001005389.2. NM_001005389.1. [O94856-2]
    NP_001153803.1. NM_001160331.1. [O94856-11]
    NP_001153804.1. NM_001160332.1. [O94856-8]
    NP_001153805.1. NM_001160333.1.
    NP_055905.2. NM_015090.3. [O94856-3]
    UniGeneiHs.13349.

    Genome annotation databases

    EnsembliENST00000339876; ENSP00000344786; ENSG00000163531. [O94856-9]
    ENST00000360049; ENSP00000353154; ENSG00000163531. [O94856-3]
    ENST00000401399; ENSP00000385637; ENSG00000163531. [O94856-9]
    ENST00000403080; ENSP00000384875; ENSG00000163531. [O94856-2]
    ENST00000404076; ENSP00000385676; ENSG00000163531. [O94856-10]
    ENST00000404907; ENSP00000384061; ENSG00000163531. [O94856-8]
    ENST00000447819; ENSP00000416891; ENSG00000163531.
    ENST00000513543; ENSP00000425908; ENSG00000163531. [O94856-3]
    ENST00000539706; ENSP00000438614; ENSG00000163531. [O94856-8]
    GeneIDi23114.
    KEGGihsa:23114.
    UCSCiuc001hbh.3. human. [O94856-2]
    uc001hbi.3. human. [O94856-3]
    uc001hbj.3. human. [O94856-9]
    uc010pra.2. human. [O94856-8]
    uc010prb.2. human. [O94856-11]
    uc010prc.2. human. [O94856-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB018299 mRNA. Translation: BAA34476.3 . Different initiation.
    AK027553 mRNA. Translation: BAB55195.1 . Different initiation.
    AK090639 mRNA. Translation: BAG52203.1 .
    AK127424 mRNA. No translation available.
    AK128699 mRNA. Translation: BAC87577.1 . Different initiation.
    AC096675 Genomic DNA. No translation available.
    AL391822 Genomic DNA. Translation: CAI14656.1 .
    AL391822 Genomic DNA. Translation: CAI14657.1 .
    AL391822 Genomic DNA. Translation: CAI14658.1 .
    AL391822 Genomic DNA. Translation: CAI14659.1 .
    AL391822 Genomic DNA. Translation: CAI14660.1 .
    AL391822 Genomic DNA. Translation: CAI14661.1 .
    AL391822 Genomic DNA. Translation: CAI14662.1 .
    AL391822 Genomic DNA. Translation: CAI14664.1 .
    AL391822 Genomic DNA. Translation: CAI14665.1 .
    AL391822 Genomic DNA. Translation: CAI14666.1 .
    AL391822 Genomic DNA. Translation: CAI14667.1 .
    BC008124 mRNA. Translation: AAH08124.2 .
    BC117674 mRNA. Translation: AAI17675.2 .
    BC137013 mRNA. Translation: AAI37014.1 .
    BC144454 mRNA. Translation: AAI44455.1 .
    AB177861 mRNA. Translation: BAD66839.1 .
    BX537841 mRNA. Translation: CAD97852.1 .
    CR749402 mRNA. Translation: CAH18247.1 .
    CCDSi CCDS30982.1. [O94856-3 ]
    CCDS53460.1. [O94856-9 ]
    CCDS53461.1. [O94856-2 ]
    CCDS53462.1. [O94856-8 ]
    RefSeqi NP_001005388.2. NM_001005388.2. [O94856-9 ]
    NP_001005389.2. NM_001005389.1. [O94856-2 ]
    NP_001153803.1. NM_001160331.1. [O94856-11 ]
    NP_001153804.1. NM_001160332.1. [O94856-8 ]
    NP_001153805.1. NM_001160333.1.
    NP_055905.2. NM_015090.3. [O94856-3 ]
    UniGenei Hs.13349.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3P3Y X-ray 2.60 A 25-428 [» ]
    3P40 X-ray 3.20 A 25-428 [» ]
    ProteinModelPortali O94856.
    SMRi O94856. Positions 37-1036.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116737. 1 interaction.
    IntActi O94856. 5 interactions.

    PTM databases

    PhosphoSitei O94856.

    Proteomic databases

    MaxQBi O94856.
    PaxDbi O94856.
    PRIDEi O94856.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000339876 ; ENSP00000344786 ; ENSG00000163531 . [O94856-9 ]
    ENST00000360049 ; ENSP00000353154 ; ENSG00000163531 . [O94856-3 ]
    ENST00000401399 ; ENSP00000385637 ; ENSG00000163531 . [O94856-9 ]
    ENST00000403080 ; ENSP00000384875 ; ENSG00000163531 . [O94856-2 ]
    ENST00000404076 ; ENSP00000385676 ; ENSG00000163531 . [O94856-10 ]
    ENST00000404907 ; ENSP00000384061 ; ENSG00000163531 . [O94856-8 ]
    ENST00000447819 ; ENSP00000416891 ; ENSG00000163531 .
    ENST00000513543 ; ENSP00000425908 ; ENSG00000163531 . [O94856-3 ]
    ENST00000539706 ; ENSP00000438614 ; ENSG00000163531 . [O94856-8 ]
    GeneIDi 23114.
    KEGGi hsa:23114.
    UCSCi uc001hbh.3. human. [O94856-2 ]
    uc001hbi.3. human. [O94856-3 ]
    uc001hbj.3. human. [O94856-9 ]
    uc010pra.2. human. [O94856-8 ]
    uc010prb.2. human. [O94856-11 ]
    uc010prc.2. human. [O94856-1 ]

    Organism-specific databases

    CTDi 23114.
    GeneCardsi GC01P204797.
    HGNCi HGNC:29866. NFASC.
    HPAi HPA008832.
    MIMi 609145. gene.
    neXtProti NX_O94856.
    PharmGKBi PA128395771.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG293951.
    HOVERGENi HBG000144.
    KOi K06757.
    OrthoDBi EOG7R56RM.
    PhylomeDBi O94856.
    TreeFami TF351098.

    Enzyme and pathway databases

    Reactomei REACT_22266. Interaction between L1 and Ankyrins.
    REACT_22312. Neurofascin interactions.

    Miscellaneous databases

    ChiTaRSi NFASC. human.
    EvolutionaryTracei O94856.
    GeneWikii NFASC.
    GenomeRNAii 23114.
    NextBioi 44320.
    PROi O94856.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O94856.
    Bgeei O94856.
    Genevestigatori O94856.

    Family and domain databases

    Gene3Di 2.60.40.10. 11 hits.
    InterProi IPR003961. Fibronectin_type3.
    IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR013098. Ig_I-set.
    IPR003599. Ig_sub.
    IPR003598. Ig_sub2.
    IPR026966. Neurofascin/L1/NrCAM_C.
    IPR026965. NFASC.
    [Graphical view ]
    PANTHERi PTHR10489:SF41. PTHR10489:SF41. 1 hit.
    Pfami PF13882. Bravo_FIGEY. 1 hit.
    PF00041. fn3. 5 hits.
    PF07679. I-set. 5 hits.
    [Graphical view ]
    SMARTi SM00060. FN3. 5 hits.
    SM00409. IG. 2 hits.
    SM00408. IGc2. 4 hits.
    [Graphical view ]
    SUPFAMi SSF49265. SSF49265. 3 hits.
    PROSITEi PS50853. FN3. 5 hits.
    PS50835. IG_LIKE. 6 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Ishikawa K., Suyama M., Kikuno R., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 5:277-286(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
      Tissue: Brain.
    2. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
      Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
      DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SEQUENCE REVISION.
    3. "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 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 804-1347 (ISOFORMS 3/4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 931-1347 (ISOFORM 6), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 972-1347 (ISOFORM 1).
      Tissue: Teratocarcinoma and Uterus.
    4. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], ALTERNATIVE SPLICING.
    5. "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] (ISOFORMS 3 AND 9), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 326-1347 (ISOFORM 2).
      Tissue: Brain.
    6. "Alternative splice variants encoding unstable protein domains exist in the human brain."
      Homma K., Kikuno R.F., Nagase T., Ohara O., Nishikawa K.
      J. Mol. Biol. 343:1207-1220(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 193-1347 (ISOFORM 5).
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1040-1347 (ISOFORM 7), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1204-1347 (ISOFORMS 1/3/4/6/7).
      Tissue: Amygdala and Esophageal carcinoma.
    8. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-481 AND SER-485, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    9. "Myocilin mediates myelination in the peripheral nervous system through ErbB2/3 signaling."
      Kwon H.S., Johnson T.V., Joe M.K., Abu-Asab M., Zhang J., Chan C.C., Tomarev S.I.
      J. Biol. Chem. 288:26357-26371(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH MYOC.
    10. "Homophilic adhesion mechanism of neurofascin, a member of the L1 family of neural cell adhesion molecules."
      Liu H., Focia P.J., He X.
      J. Biol. Chem. 286:797-805(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 25-428, GLYCOSYLATION AT ASN-409, SUBUNIT, DISULFIDE BONDS.

    Entry informationi

    Entry nameiNFASC_HUMAN
    AccessioniPrimary (citable) accession number: O94856
    Secondary accession number(s): B2RNN8
    , B3KQZ1, B5MDP6, B5MDR6, B7ZMD8, Q149P5, Q5T2F0, Q5T2F1, Q5T2F2, Q5T2F3, Q5T2F4, Q5T2F5, Q5T2F6, Q5T2F7, Q5T2F9, Q5T2G0, Q5W9F8, Q68DH3, Q6ZQV6, Q7Z3K1, Q96HT1, Q96K50
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 14, 2003
    Last sequence update: December 6, 2005
    Last modified: October 1, 2014
    This is version 136 of the entry and version 4 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3