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UniProtKB/Swiss-Prot entry Q92915


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name FGF14_HUMAN
Primary accession number Q92915
Secondary accession numbers Q86YN7 Q96QX6
Integrated into Swiss-Prot on November 1, 1997
Sequence was last modified on February 1, 1997 (Sequence version 1)
Annotations were last modified on    September 23, 2008 (Entry version 74)
Name and origin of the protein
Protein name Fibroblast growth factor 14
Synonyms FGF-14
Fibroblast growth factor homologous factor 4
FHF-4
Gene name
Name: FGF14
Synonyms: FHF4
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Retina;
DOI=10.1073/pnas.93.18.9850; PubMed=8790420 [NCBI, ExPASy, EBI, Israel, Japan]
Smallwood P.M., Munoz-Sanjuan I., Tong P., Macke J.P., Hendry S.H., Gilbert D.J., Copeland N.G., Jenkins N.A., Nathans J.;
"Fibroblast growth factor (FGF) homologous factors: new members of the FGF family implicated in nervous system development.";
Proc. Natl. Acad. Sci. U.S.A. 93:9850-9857(1996).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
TISSUE=Brain;
Bonner T.I.;
Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1073/pnas.182412499; PubMed=12364586 [NCBI, ExPASy, EBI, Israel, Japan]
Chumakov I., Blumenfeld M., Guerassimenko O., Cavarec L., Palicio M., Abderrahim H., Bougueleret L., Barry C., Tanaka H., La Rosa P., Puech A., Tahri N., Cohen-Akenine A., Delabrosse S., Lissarrague S., Picard F.-P., Maurice K., Essioux L., Millasseau P., Grel P., Debailleul V., Simon A.-M., Caterina D., Dufaure I., Malekzadeh K., Belova M., Luan J.-J., Bouillot M., Sambucy J.-L., Primas G., Saumier M., Boubkiri N., Martin-Saumier S., Nasroune M., Peixoto H., Delaye A., Pinchot V., Bastucci M., Guillou S., Chevillon M., Sainz-Fuertes R., Meguenni S., Aurich-Costa J., Cherif D., Gimalac A., Van Duijn C., Gauvreau D., Ouellette G., Fortier I., Raelson J., Sherbatich T., Riazanskay N., Rogaev E., Raeymaekers P., Aerssens J., Konings F., Luyten W., Macciardi F., Sham P.C., Straub R.E., Weinberger D.R., Cohen N., Cohen D.;
"Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia.";
Proc. Natl. Acad. Sci. U.S.A. 99:13675-13680(2002).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature02379; PubMed=15057823 [NCBI, ExPASy, EBI, Israel, Japan]
Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.;
"The DNA sequence and analysis of human chromosome 13.";
Nature 428:522-528(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
VARIANT SCA27 SER-145.
DOI=10.1086/345488; PubMed=12489043 [NCBI, ExPASy, EBI, Israel, Japan]
van Swieten J.C., Brusse E., de Graaf B.M., Krieger E., van de Graaf R., de Koning I., Maat-Kievit A., Leegwater P., Dooijes D., Oostra B.A., Heutink P.;
"A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar (sic) ataxia.";
Am. J. Hum. Genet. 72:191-199(2003).
[7]
ERRATUM.
van Swieten J.C., Brusse E., de Graaf B.M., Krieger E., van de Graaf R., de Koning I., Maat-Kievit A., Leegwater P., Dooijes D., Oostra B.A., Heutink P.;
Am. J. Hum. Genet. 72:1078-1078(2003).
[8]
VARIANT CYS-42.
DOI=10.1038/sj.ejhg.5201286; PubMed=15470364 [NCBI, ExPASy, EBI, Israel, Japan]
Dalski A., Atici J., Kreuz F.R., Hellenbroich Y., Schwinger E., Zuehlke C.;
"Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias.";
Eur. J. Hum. Genet. 13:118-120(2005).
[9]
VARIANT [LARGE SCALE ANALYSIS] CYS-44 (ISOFORM 2).
DOI=10.1126/science.1133427; PubMed=16959974 [NCBI, ExPASy, EBI, Israel, Japan]
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.;
"The consensus coding sequences of human breast and colorectal cancers.";
Science 314:268-274(2006).
Comments
  • FUNCTION: Probably involved in nervous system development and function.
  • SUBCELLULAR LOCATION: Nucleus (Probable).
  • ALTERNATIVE PRODUCTS: 2 named isoforms [FASTA] produced by alternative splicing.
    Name1
    Isoform IDQ92915-1
    This is the isoform sequence displayed in this entry.
    Name2
    SynonymsIsoform 1B
    Isoform IDQ92915-2
    Note: Variant in position: 44:W->C (in a colorectal cancer sample).
    Features which should be applied to build the isoform sequence: VSP_029051.
  • TISSUE SPECIFICITY: Nervous system.
  • DISEASE: Defects in FGF14 are the cause of spinocerebellar ataxia type 27 (SCA27) [MIM:609307]. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA27 is an autosomal dominant cerebellar ataxia (ADCA). It is a slowly progressive disorder, with onset in late-childhood to early adulthood, characterized by ataxia with tremor, orofacial dyskinesia, psychiatric symptoms and cognitive deficits.
  • SIMILARITY: Belongs to the heparin-binding growth factors family.
  • WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=FGF14";.
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
U66200; AAB18916.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AY188178; AAO31806.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AE014303; AAN16025.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL160153; CAC42528.2; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL512629; CAC42528.2; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL591909; CAC42528.2; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL160153; CAH73403.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL356263; CAH73403.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL512629; CAH73403.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL591909; CAH73403.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL512629; CAI15768.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL160153; CAI15768.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL356263; CAI15768.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL591909; CAI15768.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL512629; CAI15769.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL591909; CAI15769.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL160153; CAI15769.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL591909; CAI15872.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL160153; CAI15872.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL356263; CAI15872.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL512629; CAI15872.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL591909; CAI15873.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL160153; CAI15873.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL512629; CAI15873.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL356263; CAI16837.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL160153; CAI16837.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL512629; CAI16837.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL591909; CAI16837.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC100920; AAI00921.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC100921; AAI00922.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC100922; AAI00923.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
RefSeq NP_004106.1; -.
NP_787125.1; -.
UniGene Hs.696392
3D structure databases
HSSP P08620; 1IJT. [HSSP ENTRY / PDB]
SMR Q92915; 66-203.
ModBase Q92915.
Organism-specific databases
HGNC HGNC:3671; FGF14.
GenAtlas FGF14.
MIM 601515; gene. [NCBI / EBI]
609307; phenotype. [NCBI / EBI]
Orphanet 99; Cerebellar ataxia, autosomal dominant.
PharmGKB PA28110; -.
GeneCards Q92915.
Gene expression databases
ArrayExpress Q92915; -.
CleanEx HS_FGF14; -.
GermOnline ENSG00000102466; Homo sapiens.
Ontologies
GO
GO:0008083; Molecular function: growth factor activity (traceable author statement from ProtInc).
GO:0007267; Biological process: cell-cell signaling (traceable author statement from ProtInc).
GO:0007399; Biological process: nervous system development (traceable author statement from ProtInc).
GO:0007165; Biological process: signal transduction (traceable author statement from ProtInc).
QuickGo view.
Family and domain databases
InterPro IPR002209; GF_heparin_bd.
IPR002348; IL1_HBGF.
Graphical view of domain structure.
PANTHER PTHR11486; IL1_HBGF; 1.
Pfam PF00167; FGF; 1.
Pfam graphical view of domain structure.
PRINTS PR00263; HBGFFGF.
PR00262; IL1HBGF.
ProDom PD000831; IL1_HBGF; 1.
[Domain structure / List of seq. sharing at least 1 domain]
SMART SM00442; FGF; 1.
SMART graphical view of domain structure.
PROSITE PS00247; HBGF_FGF; 1.
BLOCKS Q92915.
Genome annotation databases
Ensembl ENSG00000102466; Homo sapiens. [Contig view]
GeneID 2259; -.
KEGG hsa:2259; -.
Phylogenomic databases
HOVERGEN Q92915; -.
Other
SOURCE FGF14; Homo sapiens.
ProtoNet Q92915.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Alternative splicing; Disease mutation; Growth factor; Neurodegeneration; Nucleus; Polymorphism; Spinocerebellar ataxia.
Features
SEVIEWER logo Feature table viewer
KeyFrom   To Length Description FTId
CHAIN   1   247  247     Fibroblast growth factor 14. PRO_0000147610
VAR_SEQ   1    64        MAAAIASGLIRQKRQAREQHWDRPSASRRRSSPSKNRGLC NGNLVDIFSKVRIFGLKKRRLRRQ -> MVKPVPLFRRTDFKLLLCNHKDLFFLRVSKLLDCFSPKSM WFLWNIFSKGTHMLQCLCGKSLKKNKNPT (in isoform 2). VSP_029051
VARIANT   42    42  1     G -> C. VAR_022735 
VARIANT   145   145  1     F -> S (in SCA27). VAR_022736 
Sequence information
Length: 247 AA [This is the length of the unprocessed precursor] Molecular weight: 27702 Da [This is the MW of the unprocessed precursor] CRC64: 427C3373198B967E [This is a checksum on the sequence]
        10         20         30         40         50         60 
MAAAIASGLI RQKRQAREQH WDRPSASRRR SSPSKNRGLC NGNLVDIFSK VRIFGLKKRR 

        70         80         90        100        110        120 
LRRQDPQLKG IVTRLYCRQG YYLQMHPDGA LDGTKDDSTN STLFNLIPVG LRVVAIQGVK 

       130        140        150        160        170        180 
TGLYIAMNGE GYLYPSELFT PECKFKESVF ENYYVIYSSM LYRQQESGRA WFLGLNKEGQ 

       190        200        210        220        230        240 
AMKGNRVKKT KPAAHFLPKP LEVAMYREPS LHDVGETVPK PGVTPSKSTS ASAIMNGGKP 


VNKSKTT 

Q92915 in FASTA format

View entry in original UniProtKB/Swiss-Prot format
View entry in raw text format (no links)
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