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O94856

- NFASC_HUMAN

UniProt

O94856 - NFASC_HUMAN

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Protein

Neurofascin

Gene

NFASC

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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 - 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
Complete GO annotation...

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. focal adhesion Source: UniProtKB
  4. integral component of membrane Source: UniProtKB-KW
  5. intracellular Source: BHF-UCL
  6. node of Ranvier Source: BHF-UCL
  7. paranodal junction Source: Ensembl
  8. paranode region of axon Source: Ensembl
  9. plasma membrane Source: Reactome
Complete GO annotation...

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

BgeeiO94856.
ExpressionAtlasiO94856. baseline and differential.
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.
GeneTreeiENSGT00760000118840.
HOVERGENiHBG000144.
InParanoidiO94856.
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

        10         20         30         40         50
MARQPPPPWV HAAFLLCLLS LGGAIEIPMD PSIQNELTQP PTITKQSAKD
60 70 80 90 100
HIVDPRDNIL IECEAKGNPA PSFHWTRNSR FFNIAKDPRV SMRRRSGTLV
110 120 130 140 150
IDFRSGGRPE EYEGEYQCFA RNKFGTALSN RIRLQVSKSP LWPKENLDPV
160 170 180 190 200
VVQEGAPLTL QCNPPPGLPS PVIFWMSSSM EPITQDKRVS QGHNGDLYFS
210 220 230 240 250
NVMLQDMQTD YSCNARFHFT HTIQQKNPFT LKVLTTRGVA ERTPSFMYPQ
260 270 280 290 300
GTASSQMVLR GMDLLLECIA SGVPTPDIAW YKKGGDLPSD KAKFENFNKA
310 320 330 340 350
LRITNVSEED SGEYFCLASN KMGSIRHTIS VRVKAAPYWL DEPKNLILAP
360 370 380 390 400
GEDGRLVCRA NGNPKPTVQW MVNGEPLQSA PPNPNREVAG DTIIFRDTQI
410 420 430 440 450
SSRAVYQCNT SNEHGYLLAN AFVSVLDVPP RMLSPRNQLI RVILYNRTRL
460 470 480 490 500
DCPFFGSPIP TLRWFKNGQG SNLDGGNYHV YENGSLEIKM IRKEDQGIYT
510 520 530 540 550
CVATNILGKA ENQVRLEVKD PTRIYRMPED QVARRGTTVQ LECRVKHDPS
560 570 580 590 600
LKLTVSWLKD DEPLYIGNRM KKEDDSLTIF GVAERDQGSY TCVASTELDQ
610 620 630 640 650
DLAKAYLTVL ADQATPTNRL AALPKGRPDR PRDLELTDLA ERSVRLTWIP
660 670 680 690 700
GDANNSPITD YVVQFEEDQF QPGVWHDHSK YPGSVNSAVL RLSPYVNYQF
710 720 730 740 750
RVIAINEVGS SHPSLPSERY RTSGAPPESN PGDVKGEGTR KNNMEITWTP
760 770 780 790 800
MNATSAFGPN LRYIVKWRRR ETREAWNNVT VWGSRYVVGQ TPVYVPYEIR
810 820 830 840 850
VQAENDFGKG PEPESVIGYS GEDYPRAAPT EVKVRVMNST AISLQWNRVY
860 870 880 890 900
SDTVQGQLRE YRAYYWRESS LLKNLWVSQK RQQASFPGDR LRGVVSRLFP
910 920 930 940 950
YSNYKLEMVV VNGRGDGPRS ETKEFTTPEG VPSAPRRFRV RQPNLETINL
960 970 980 990 1000
EWDHPEHPNG IMIGYTLKYV AFNGTKVGKQ IVENFSPNQT KFTVQRTDPV
1010 1020 1030 1040 1050
SRYRFTLSAR TQVGSGEAVT EESPAPPNEA TPTAAPPTLP PTTVGATGAV
1060 1070 1080 1090 1100
SSTDATAIAA TTEATTVPII PTVAPTTIAT TTTVATTTTT TAAATTTTES
1110 1120 1130 1140 1150
PPTTTSGTKI HESAPDEQSI WNVTVLPNSK WANITWKHNF GPGTDFVVEY
1160 1170 1180 1190 1200
IDSNHTKKTV PVKAQAQPIQ LTDLYPGMTY TLRVYSRDNE GISSTVITFM
1210 1220 1230 1240 1250
TSTAYTNNQA DIATQGWFIG LMCAIALLVL ILLIVCFIKR SRGGKYPVRE
1260 1270 1280 1290 1300
KKDVPLGPED PKEEDGSFDY SDEDNKPLQG SQTSLDGTIK QQESDDSLVD
1310 1320 1330 1340
YGEGGEGQFN EDGSFIGQYT VKKDKEETEG NESSEATSPV NAIYSLA

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.
GeneTreei ENSGT00760000118840.
HOVERGENi HBG000144.
InParanoidi O94856.
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

Bgeei O94856.
ExpressionAtlasi O94856. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 137 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