Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

O94856 (NFASC_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 134. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Neurofascin
Gene names
Name:NFASC
Synonyms:KIAA0756
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1347 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

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. Ref.9 Ref.10

Subcellular location

Cell membrane; Single-pass type I membrane protein.

Domain

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

Sequence similarities

Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family.

Contains 5 fibronectin type-III domains.

Contains 6 Ig-like C2-type (immunoglobulin-like) domains.

Sequence caution

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.

Ontologies

Keywords
   Biological processCell adhesion
   Cellular componentCell membrane
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainImmunoglobulin domain
Repeat
Signal
Transmembrane
Transmembrane helix
   PTMDisulfide bond
Glycoprotein
Phosphoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processaxon guidance

Traceable author statement. Source: Reactome

clustering of voltage-gated sodium channels

Inferred from electronic annotation. Source: Ensembl

heterotypic cell-cell adhesion

Inferred from electronic annotation. Source: Ensembl

myelination

Inferred from sequence or structural similarity. Source: BHF-UCL

paranodal junction assembly

Inferred from electronic annotation. Source: Ensembl

peripheral nervous system development

Inferred from sequence or structural similarity. Source: BHF-UCL

protein localization to juxtaparanode region of axon

Inferred from electronic annotation. Source: Ensembl

protein localization to paranode region of axon

Inferred from electronic annotation. Source: Ensembl

synapse organization

Inferred from electronic annotation. Source: Ensembl

transmission of nerve impulse

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentaxon initial segment

Inferred from sequence or structural similarity. Source: BHF-UCL

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

intracellular

Inferred from sequence or structural similarity. Source: BHF-UCL

node of Ranvier

Inferred from sequence or structural similarity. Source: BHF-UCL

paranodal junction

Inferred from electronic annotation. Source: Ensembl

paranode region of axon

Inferred from electronic annotation. Source: Ensembl

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_functionprotein binding

Inferred from physical interaction Ref.9. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 13 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O94856-1)

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.
Note: No experimental confirmation available.
Isoform 2 (identifier: O94856-2)

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.
Isoform 3 (identifier: O94856-3)

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.
Isoform 4 (identifier: O94856-4)

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.
Isoform 5 (identifier: O94856-5)

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.
Isoform 6 (identifier: O94856-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1030-1152: Missing.
     1153-1153: S → G
Note: No experimental confirmation available.
Isoform 7 (identifier: O94856-7)

The sequence of this isoform differs from the canonical sequence as follows:
     1114-1203: Missing.
Note: No experimental confirmation available.
Isoform 8 (identifier: O94856-8)

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.
Isoform 9 (identifier: O94856-9)

The sequence of this isoform differs from the canonical sequence as follows:
     824-930: Missing.
     931-931: V → L
Note: No experimental confirmation available.
Isoform 10 (identifier: O94856-10)

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.
Isoform 11 (identifier: O94856-11)

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.
Isoform 12 (identifier: O94856-12)

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.
Isoform 13 (identifier: O94856-13)

The sequence of this isoform differs from the canonical sequence as follows:
     1035-1113: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2424 Potential
Chain25 – 13471323Neurofascin
PRO_0000015049

Regions

Topological domain25 – 12171193Extracellular Potential
Transmembrane1218 – 123821Helical; Potential
Topological domain1239 – 1347109Cytoplasmic Potential
Domain41 – 13797Ig-like C2-type 1
Domain143 – 23088Ig-like C2-type 2
Domain244 – 33289Ig-like C2-type 3
Domain337 – 42488Ig-like C2-type 4
Domain429 – 51789Ig-like C2-type 5
Domain521 – 60383Ig-like C2-type 6
Domain630 – 72596Fibronectin type-III 1
Domain730 – 82394Fibronectin type-III 2
Domain828 – 930103Fibronectin type-III 3
Domain934 – 103097Fibronectin type-III 4
Domain1114 – 120693Fibronectin type-III 5
Compositional bias1031 – 110878Thr-rich

Amino acid modifications

Modified residue4811Phosphotyrosine Ref.8
Modified residue4851Phosphoserine Ref.8
Glycosylation3051N-linked (GlcNAc...) Potential
Glycosylation4091N-linked (GlcNAc...) Ref.10
Glycosylation4461N-linked (GlcNAc...) Potential
Glycosylation4831N-linked (GlcNAc...) Potential
Glycosylation7521N-linked (GlcNAc...) Potential
Glycosylation7781N-linked (GlcNAc...) Potential
Glycosylation9731N-linked (GlcNAc...) Potential
Glycosylation9881N-linked (GlcNAc...) Potential
Disulfide bond63 ↔ 118 Ref.10
Disulfide bond162 ↔ 213 Ref.10
Disulfide bond268 ↔ 316 Ref.10
Disulfide bond358 ↔ 408 Ref.10
Disulfide bond452 ↔ 501 Potential
Disulfide bond543 ↔ 592 Potential

Natural variations

Alternative sequence31 – 366Missing in isoform 3, isoform 8, isoform 10 and isoform 11.
VSP_016424
Alternative sequence2361T → NHPYNDSSLRNHPDMYSA in isoform 3, isoform 8 and isoform 11.
VSP_016425
Alternative sequence611 – 62515Missing in isoform 3, isoform 5, isoform 8 and isoform 10.
VSP_008937
Alternative sequence611 – 6199ADQATPTNR → GNCPCSPWH in isoform 2.
VSP_016426
Alternative sequence620 – 1347728Missing in isoform 2.
VSP_008938
Alternative sequence824 – 930107Missing in isoform 4, isoform 9 and isoform 12.
VSP_016427
Alternative sequence9311V → L in isoform 4, isoform 9 and isoform 12.
VSP_016428
Alternative sequence1030 – 1203174Missing in isoform 3 and isoform 4.
VSP_008940
Alternative sequence1030 – 1152123Missing in isoform 6.
VSP_016430
Alternative sequence1030 – 104314ATPTA…LPPTT → GRCMAAAPGVKGPS in isoform 5.
VSP_016429
Alternative sequence1035 – 1203169Missing in isoform 8, isoform 10, isoform 11 and isoform 12.
VSP_016432
Alternative sequence1035 – 111379Missing in isoform 13.
VSP_016431
Alternative sequence1114 – 120390Missing in isoform 7.
VSP_016433
Alternative sequence11531S → G in isoform 6.
VSP_016434
Natural variant1591T → M.
Corresponds to variant rs3795564 [ dbSNP | Ensembl ].
VAR_017251

Experimental info

Sequence conflict8071F → L in BAB55195. Ref.3
Sequence conflict9721F → V in AK127424. Ref.3

Secondary structure

................................................................................... 1347
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 6, 2005. Version 4.
Checksum: 4DC555E5AA06C223

FASTA1,347150,027
        10         20         30         40         50         60 
MARQPPPPWV HAAFLLCLLS LGGAIEIPMD PSIQNELTQP PTITKQSAKD HIVDPRDNIL 

        70         80         90        100        110        120 
IECEAKGNPA PSFHWTRNSR FFNIAKDPRV SMRRRSGTLV IDFRSGGRPE EYEGEYQCFA 

       130        140        150        160        170        180 
RNKFGTALSN RIRLQVSKSP LWPKENLDPV VVQEGAPLTL QCNPPPGLPS PVIFWMSSSM 

       190        200        210        220        230        240 
EPITQDKRVS QGHNGDLYFS NVMLQDMQTD YSCNARFHFT HTIQQKNPFT LKVLTTRGVA 

       250        260        270        280        290        300 
ERTPSFMYPQ GTASSQMVLR GMDLLLECIA SGVPTPDIAW YKKGGDLPSD KAKFENFNKA 

       310        320        330        340        350        360 
LRITNVSEED SGEYFCLASN KMGSIRHTIS VRVKAAPYWL DEPKNLILAP GEDGRLVCRA 

       370        380        390        400        410        420 
NGNPKPTVQW MVNGEPLQSA PPNPNREVAG DTIIFRDTQI SSRAVYQCNT SNEHGYLLAN 

       430        440        450        460        470        480 
AFVSVLDVPP RMLSPRNQLI RVILYNRTRL DCPFFGSPIP TLRWFKNGQG SNLDGGNYHV 

       490        500        510        520        530        540 
YENGSLEIKM IRKEDQGIYT CVATNILGKA ENQVRLEVKD PTRIYRMPED QVARRGTTVQ 

       550        560        570        580        590        600 
LECRVKHDPS LKLTVSWLKD DEPLYIGNRM KKEDDSLTIF GVAERDQGSY TCVASTELDQ 

       610        620        630        640        650        660 
DLAKAYLTVL ADQATPTNRL AALPKGRPDR PRDLELTDLA ERSVRLTWIP GDANNSPITD 

       670        680        690        700        710        720 
YVVQFEEDQF QPGVWHDHSK YPGSVNSAVL RLSPYVNYQF RVIAINEVGS SHPSLPSERY 

       730        740        750        760        770        780 
RTSGAPPESN PGDVKGEGTR KNNMEITWTP MNATSAFGPN LRYIVKWRRR ETREAWNNVT 

       790        800        810        820        830        840 
VWGSRYVVGQ TPVYVPYEIR VQAENDFGKG PEPESVIGYS GEDYPRAAPT EVKVRVMNST 

       850        860        870        880        890        900 
AISLQWNRVY SDTVQGQLRE YRAYYWRESS LLKNLWVSQK RQQASFPGDR LRGVVSRLFP 

       910        920        930        940        950        960 
YSNYKLEMVV VNGRGDGPRS ETKEFTTPEG VPSAPRRFRV RQPNLETINL EWDHPEHPNG 

       970        980        990       1000       1010       1020 
IMIGYTLKYV AFNGTKVGKQ IVENFSPNQT KFTVQRTDPV SRYRFTLSAR TQVGSGEAVT 

      1030       1040       1050       1060       1070       1080 
EESPAPPNEA TPTAAPPTLP PTTVGATGAV SSTDATAIAA TTEATTVPII PTVAPTTIAT 

      1090       1100       1110       1120       1130       1140 
TTTVATTTTT TAAATTTTES PPTTTSGTKI HESAPDEQSI WNVTVLPNSK WANITWKHNF 

      1150       1160       1170       1180       1190       1200 
GPGTDFVVEY IDSNHTKKTV PVKAQAQPIQ LTDLYPGMTY TLRVYSRDNE GISSTVITFM 

      1210       1220       1230       1240       1250       1260 
TSTAYTNNQA DIATQGWFIG LMCAIALLVL ILLIVCFIKR SRGGKYPVRE KKDVPLGPED 

      1270       1280       1290       1300       1310       1320 
PKEEDGSFDY SDEDNKPLQG SQTSLDGTIK QQESDDSLVD YGEGGEGQFN EDGSFIGQYT 

      1330       1340 
VKKDKEETEG NESSEATSPV NAIYSLA 

« Hide

Isoform 2 [UniParc].

Checksum: 19677F073EA3925E
Show »

FASTA61969,565
Isoform 3 [UniParc].

Checksum: 227C4122ABA8EDAD
Show »

FASTA1,169131,669
Isoform 4 [UniParc].

Checksum: B254170D9F282A75
Show »

FASTA1,066119,470
Isoform 5 [UniParc].

Checksum: C8EB8885620764DF
Show »

FASTA1,332148,444
Isoform 6 [UniParc].

Checksum: 345949AF7828A247
Show »

FASTA1,224137,531
Isoform 7 [UniParc].

Checksum: 4E9F5630EAB43566
Show »

FASTA1,257139,881
Isoform 8 [UniParc].

Checksum: B298E5CBDF6A66B6
Show »

FASTA1,174132,111
Isoform 9 [UniParc].

Checksum: 2A894288EB12B706
Show »

FASTA1,240137,609
Isoform 10 [UniParc].

Checksum: FD0DE3EBAA072F1F
Show »

FASTA1,157130,112
Isoform 11 [UniParc].

Checksum: 0D8B3BD1CF541D66
Show »

FASTA1,189133,659
Isoform 12 [UniParc].

Checksum: 8D23FD7B6D7A4EE0
Show »

FASTA1,071119,911
Isoform 13 [UniParc].

Checksum: 860AFD7BD11A1BFE
Show »

FASTA1,268142,474

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS30982.1. [O94856-3]
CCDS53460.1. [O94856-9]
CCDS53461.1. [O94856-2]
CCDS53462.1. [O94856-8]
RefSeqNP_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]
UniGeneHs.13349.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3P3YX-ray2.60A25-428[»]
3P40X-ray3.20A25-428[»]
ProteinModelPortalO94856.
SMRO94856. Positions 37-1036.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116737. 1 interaction.
IntActO94856. 5 interactions.

PTM databases

PhosphoSiteO94856.

Proteomic databases

MaxQBO94856.
PaxDbO94856.
PRIDEO94856.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000339876; 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]
GeneID23114.
KEGGhsa:23114.
UCSCuc001hbh.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

CTD23114.
GeneCardsGC01P204797.
HGNCHGNC:29866. NFASC.
HPAHPA008832.
MIM609145. gene.
neXtProtNX_O94856.
PharmGKBPA128395771.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG293951.
HOVERGENHBG000144.
KOK06757.
OrthoDBEOG7R56RM.
PhylomeDBO94856.
TreeFamTF351098.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.

Gene expression databases

ArrayExpressO94856.
BgeeO94856.
GenevestigatorO94856.

Family and domain databases

Gene3D2.60.40.10. 11 hits.
InterProIPR003961. 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]
PANTHERPTHR10489:SF41. PTHR10489:SF41. 1 hit.
PfamPF13882. Bravo_FIGEY. 1 hit.
PF00041. fn3. 5 hits.
PF07679. I-set. 5 hits.
[Graphical view]
SMARTSM00060. FN3. 5 hits.
SM00409. IG. 2 hits.
SM00408. IGc2. 4 hits.
[Graphical view]
SUPFAMSSF49265. SSF49265. 3 hits.
PROSITEPS50853. FN3. 5 hits.
PS50835. IG_LIKE. 6 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSNFASC. human.
EvolutionaryTraceO94856.
GeneWikiNFASC.
GenomeRNAi23114.
NextBio44320.
PROO94856.
SOURCESearch...

Entry information

Entry nameNFASC_HUMAN
AccessionPrimary (citable) accession number: O94856
Secondary accession number(s): B2RNN8 expand/collapse secondary AC list , B3KQZ1, B5MDP6, B5MDR6, B7ZMD8, Q149P5, Q5T2F0, Q5T2F1, Q5T2F2, Q5T2F3, Q5T2F4, Q5T2F5, Q5T2F6, Q5T2F7, Q5T2F9, Q5T2G0, Q5W9F8, Q68DH3, Q6ZQV6, Q7Z3K1, Q96HT1, Q96K50
Entry history
Integrated into UniProtKB/Swiss-Prot: November 14, 2003
Last sequence update: December 6, 2005
Last modified: July 9, 2014
This is version 134 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM