ID   FGF14_HUMAN             Reviewed;         247 AA.
AC   Q92915; Q86YN7; Q96QX6;
DT   01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT   01-FEB-1997, sequence version 1.
DT   25-JAN-2012, entry version 104.
DE   RecName: Full=Fibroblast growth factor 14;
DE            Short=FGF-14;
DE   AltName: Full=Fibroblast growth factor homologous factor 4;
DE            Short=FHF-4;
GN   Name=FGF14; Synonyms=FHF4;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC   TISSUE=Retina;
RX   MEDLINE=96382556; PubMed=8790420; DOI=10.1073/pnas.93.18.9850;
RA   Smallwood P.M., Munoz-Sanjuan I., Tong P., Macke J.P., Hendry S.H.,
RA   Gilbert D.J., Copeland N.G., Jenkins N.A., Nathans J.;
RT   "Fibroblast growth factor (FGF) homologous factors: new members of the
RT   FGF family implicated in nervous system development.";
RL   Proc. Natl. Acad. Sci. U.S.A. 93:9850-9857(1996).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RC   TISSUE=Brain;
RA   Bonner T.I.;
RL   Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX   MEDLINE=22269935; PubMed=12364586; DOI=10.1073/pnas.182412499;
RA   Chumakov I., Blumenfeld M., Guerassimenko O., Cavarec L., Palicio M.,
RA   Abderrahim H., Bougueleret L., Barry C., Tanaka H., La Rosa P.,
RA   Puech A., Tahri N., Cohen-Akenine A., Delabrosse S., Lissarrague S.,
RA   Picard F.-P., Maurice K., Essioux L., Millasseau P., Grel P.,
RA   Debailleul V., Simon A.-M., Caterina D., Dufaure I., Malekzadeh K.,
RA   Belova M., Luan J.-J., Bouillot M., Sambucy J.-L., Primas G.,
RA   Saumier M., Boubkiri N., Martin-Saumier S., Nasroune M., Peixoto H.,
RA   Delaye A., Pinchot V., Bastucci M., Guillou S., Chevillon M.,
RA   Sainz-Fuertes R., Meguenni S., Aurich-Costa J., Cherif D., Gimalac A.,
RA   Van Duijn C., Gauvreau D., Ouellette G., Fortier I., Raelson J.,
RA   Sherbatich T., Riazanskay N., Rogaev E., Raeymaekers P., Aerssens J.,
RA   Konings F., Luyten W., Macciardi F., Sham P.C., Straub R.E.,
RA   Weinberger D.R., Cohen N., Cohen D.;
RT   "Genetic and physiological data implicating the new human gene G72 and
RT   the gene for D-amino acid oxidase in schizophrenia.";
RL   Proc. Natl. Acad. Sci. U.S.A. 99:13675-13680(2002).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15057823; DOI=10.1038/nature02379;
RA   Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA   Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E.,
RA   Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E.,
RA   Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.,
RA   Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R.,
RA   Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S.,
RA   Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA   Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M.,
RA   Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J.,
RA   Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E.,
RA   Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L.,
RA   Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J.,
RA   Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S.,
RA   Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J.,
RA   Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M.,
RA   King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A.,
RA   Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S.,
RA   Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA   Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I.,
RA   Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S.,
RA   Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A.,
RA   Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B.,
RA   Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L.,
RA   Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M.,
RA   Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.;
RT   "The DNA sequence and analysis of human chromosome 13.";
RL   Nature 428:522-528(2004).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [6]
RP   VARIANT SCA27 SER-145.
RX   PubMed=12489043; DOI=10.1086/345488;
RA   van Swieten J.C., Brusse E., de Graaf B.M., Krieger E.,
RA   van de Graaf R., de Koning I., Maat-Kievit A., Leegwater P.,
RA   Dooijes D., Oostra B.A., Heutink P.;
RT   "A mutation in the fibroblast growth factor 14 gene is associated with
RT   autosomal dominant cerebellar (sic) ataxia.";
RL   Am. J. Hum. Genet. 72:191-199(2003).
RN   [7]
RP   ERRATUM.
RA   van Swieten J.C., Brusse E., de Graaf B.M., Krieger E.,
RA   van de Graaf R., de Koning I., Maat-Kievit A., Leegwater P.,
RA   Dooijes D., Oostra B.A., Heutink P.;
RL   Am. J. Hum. Genet. 72:1078-1078(2003).
RN   [8]
RP   VARIANT CYS-42.
RX   PubMed=15470364; DOI=10.1038/sj.ejhg.5201286;
RA   Dalski A., Atici J., Kreuz F.R., Hellenbroich Y., Schwinger E.,
RA   Zuehlke C.;
RT   "Mutation analysis in the fibroblast growth factor 14 gene: frameshift
RT   mutation and polymorphisms in patients with inherited ataxias.";
RL   Eur. J. Hum. Genet. 13:118-120(2005).
RN   [9]
RP   VARIANT [LARGE SCALE ANALYSIS] CYS-44 (ISOFORM 2).
RX   PubMed=16959974; DOI=10.1126/science.1133427;
RA   Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA   Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
RA   Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
RA   Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
RA   Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
RA   Vogelstein B., Kinzler K.W., Velculescu V.E.;
RT   "The consensus coding sequences of human breast and colorectal
RT   cancers.";
RL   Science 314:268-274(2006).
CC   -!- FUNCTION: Probably involved in nervous system development and
CC       function.
CC   -!- SUBCELLULAR LOCATION: Nucleus (Probable).
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q92915-1; Sequence=Displayed;
CC       Name=2; Synonyms=Isoform 1B;
CC         IsoId=Q92915-2; Sequence=VSP_029051;
CC         Note=Variant in position: 44:W->C (in a colorectal cancer
CC         sample);
CC   -!- TISSUE SPECIFICITY: Nervous system.
CC   -!- DISEASE: Defects in FGF14 are the cause of spinocerebellar ataxia
CC       type 27 (SCA27) [MIM:609307]. Spinocerebellar ataxia is a
CC       clinically and genetically heterogeneous group of cerebellar
CC       disorders. Patients show progressive incoordination of gait and
CC       often poor coordination of hands, speech and eye movements, due to
CC       degeneration of the cerebellum with variable involvement of the
CC       brainstem and spinal cord. SCA27 is an autosomal dominant
CC       cerebellar ataxia (ADCA). It is a slowly progressive disorder,
CC       with onset in late-childhood to early adulthood, characterized by
CC       ataxia with tremor, orofacial dyskinesia, psychiatric symptoms and
CC       cognitive deficits.
CC   -!- SIMILARITY: Belongs to the heparin-binding growth factors family.
CC   -!- WEB RESOURCE: Name=GeneReviews;
CC       URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FGF14";
CC   -----------------------------------------------------------------------
CC   Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC   Distributed under the Creative Commons Attribution-NoDerivs License
CC   -----------------------------------------------------------------------
DR   EMBL; U66200; AAB18916.1; -; mRNA.
DR   EMBL; AY188178; AAO31806.1; -; mRNA.
DR   EMBL; AE014293; AAN16025.1; -; Genomic_DNA.
DR   EMBL; AL160153; CAC42528.2; -; Genomic_DNA.
DR   EMBL; AL512629; CAC42528.2; JOINED; Genomic_DNA.
DR   EMBL; AL591909; CAC42528.2; JOINED; Genomic_DNA.
DR   EMBL; AL160153; CAH73403.1; -; Genomic_DNA.
DR   EMBL; AL356263; CAH73403.1; JOINED; Genomic_DNA.
DR   EMBL; AL512629; CAH73403.1; JOINED; Genomic_DNA.
DR   EMBL; AL591909; CAH73403.1; JOINED; Genomic_DNA.
DR   EMBL; AL512629; CAI15768.1; -; Genomic_DNA.
DR   EMBL; AL160153; CAI15768.1; JOINED; Genomic_DNA.
DR   EMBL; AL356263; CAI15768.1; JOINED; Genomic_DNA.
DR   EMBL; AL591909; CAI15768.1; JOINED; Genomic_DNA.
DR   EMBL; AL512629; CAI15769.1; -; Genomic_DNA.
DR   EMBL; AL591909; CAI15769.1; JOINED; Genomic_DNA.
DR   EMBL; AL160153; CAI15769.1; JOINED; Genomic_DNA.
DR   EMBL; AL591909; CAI15872.1; -; Genomic_DNA.
DR   EMBL; AL160153; CAI15872.1; JOINED; Genomic_DNA.
DR   EMBL; AL356263; CAI15872.1; JOINED; Genomic_DNA.
DR   EMBL; AL512629; CAI15872.1; JOINED; Genomic_DNA.
DR   EMBL; AL591909; CAI15873.1; -; Genomic_DNA.
DR   EMBL; AL160153; CAI15873.1; JOINED; Genomic_DNA.
DR   EMBL; AL512629; CAI15873.1; JOINED; Genomic_DNA.
DR   EMBL; AL356263; CAI16837.1; -; Genomic_DNA.
DR   EMBL; AL160153; CAI16837.1; JOINED; Genomic_DNA.
DR   EMBL; AL512629; CAI16837.1; JOINED; Genomic_DNA.
DR   EMBL; AL591909; CAI16837.1; JOINED; Genomic_DNA.
DR   EMBL; BC100920; AAI00921.1; -; mRNA.
DR   EMBL; BC100921; AAI00922.1; -; mRNA.
DR   EMBL; BC100922; AAI00923.1; -; mRNA.
DR   IPI; IPI00024253; -.
DR   IPI; IPI00329411; -.
DR   RefSeq; NP_004106.1; NM_004115.3.
DR   RefSeq; NP_787125.1; NM_175929.2.
DR   UniGene; Hs.508616; -.
DR   ProteinModelPortal; Q92915; -.
DR   SMR; Q92915; 66-203.
DR   STRING; Q92915; -.
DR   DMDM; 2494463; -.
DR   PRIDE; Q92915; -.
DR   Ensembl; ENST00000376143; ENSP00000365313; ENSG00000102466.
DR   GeneID; 2259; -.
DR   KEGG; hsa:2259; -.
DR   UCSC; uc001vpe.2; human.
DR   UCSC; uc001vpf.2; human.
DR   CTD; 2259; -.
DR   GeneCards; GC13M102373; -.
DR   HGNC; HGNC:3671; FGF14.
DR   MIM; 601515; gene.
DR   MIM; 609307; phenotype.
DR   neXtProt; NX_Q92915; -.
DR   Orphanet; 98764; Spinocerebellar ataxia type 27.
DR   PharmGKB; PA28110; -.
DR   eggNOG; prNOG04782; -.
DR   GeneTree; ENSGT00590000082822; -.
DR   HOVERGEN; HBG007580; -.
DR   OMA; NSPSKNR; -.
DR   OrthoDB; EOG4NGGNC; -.
DR   NextBio; 9157; -.
DR   ArrayExpress; Q92915; -.
DR   Bgee; Q92915; -.
DR   CleanEx; HS_FGF14; -.
DR   Genevestigator; Q92915; -.
DR   GermOnline; ENSG00000102466; Homo sapiens.
DR   GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR   GO; GO:0008083; F:growth factor activity; TAS:ProtInc.
DR   GO; GO:0008201; F:heparin binding; IDA:MGI.
DR   GO; GO:0008219; P:cell death; IEA:UniProtKB-KW.
DR   GO; GO:0007267; P:cell-cell signaling; TAS:ProtInc.
DR   GO; GO:0007254; P:JNK cascade; IPI:MGI.
DR   GO; GO:0007399; P:nervous system development; TAS:ProtInc.
DR   GO; GO:0007165; P:signal transduction; TAS:ProtInc.
DR   InterPro; IPR008996; Cytokine_IL1-like.
DR   InterPro; IPR002209; GF_heparin-bd.
DR   InterPro; IPR002348; IL1_HBGF.
DR   KO; K04358; -.
DR   PANTHER; PTHR11486; IL1_HBGF; 1.
DR   Pfam; PF00167; FGF; 1.
DR   PRINTS; PR00263; HBGFFGF.
DR   PRINTS; PR00262; IL1HBGF.
DR   SMART; SM00442; FGF; 1.
DR   SUPFAM; SSF50353; Cytok_IL1_like; 1.
DR   PROSITE; PS00247; HBGF_FGF; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Complete proteome; Disease mutation;
KW   Growth factor; Neurodegeneration; Nucleus; Polymorphism;
KW   Reference proteome; Spinocerebellar ataxia.
FT   CHAIN         1    247       Fibroblast growth factor 14.
FT                                /FTId=PRO_0000147610.
FT   VAR_SEQ       1     64       MAAAIASGLIRQKRQAREQHWDRPSASRRRSSPSKNRGLCN
FT                                GNLVDIFSKVRIFGLKKRRLRRQ -> MVKPVPLFRRTDFK
FT                                LLLCNHKDLFFLRVSKLLDCFSPKSMWFLWNIFSKGTHMLQ
FT                                CLCGKSLKKNKNPT (in isoform 2).
FT                                /FTId=VSP_029051.
FT   VARIANT      42     42       G -> C.
FT                                /FTId=VAR_022735.
FT   VARIANT     145    145       F -> S (in SCA27).
FT                                /FTId=VAR_022736.
SQ   SEQUENCE   247 AA;  27702 MW;  427C3373198B967E CRC64;
     MAAAIASGLI RQKRQAREQH WDRPSASRRR SSPSKNRGLC NGNLVDIFSK VRIFGLKKRR
     LRRQDPQLKG IVTRLYCRQG YYLQMHPDGA LDGTKDDSTN STLFNLIPVG LRVVAIQGVK
     TGLYIAMNGE GYLYPSELFT PECKFKESVF ENYYVIYSSM LYRQQESGRA WFLGLNKEGQ
     AMKGNRVKKT KPAAHFLPKP LEVAMYREPS LHDVGETVPK PGVTPSKSTS ASAIMNGGKP
     VNKSKTT
//