Skip Header

Contribute Send feedback
Read comments (?) or add your own

Q92915 (FGF14_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 104. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Fibroblast growth factor 14
Short name=FGF-14
Alternative name(s):
Fibroblast growth factor homologous factor 4
Short name=FHF-4
Gene names
Name:FGF14
Synonyms:FHF4
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length247 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Probably involved in nervous system development and function.

Subcellular location

Nucleus Probable.

Tissue specificity

Nervous system.

Involvement in 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. Ref.6

Sequence similarities

Belongs to the heparin-binding growth factors family.

Ontologies

Keywords
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
Neurodegeneration
Spinocerebellar ataxia
   Molecular functionGrowth factor
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological processJNK cascade

Inferred from physical interaction. Source: MGI

cell death

Inferred from electronic annotation. Source: UniProtKB-KW

cell-cell signaling

Traceable author statement. Source: ProtInc

nervous system development

Traceable author statement. Source: ProtInc

signal transduction

Traceable author statement. Source: ProtInc

   Cellular componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular functiongrowth factor activity

Traceable author statement. Source: ProtInc

heparin binding

Inferred from direct assay. Source: MGI

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q92915-1)

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.
Isoform 2 (identifier: Q92915-2)

Also known as: Isoform 1B;

The sequence of this isoform differs from the canonical sequence as follows:
     1-64: MAAAIASGLI...GLKKRRLRRQ → MVKPVPLFRR...KSLKKNKNPT

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier
Natural variant441W → C in a colorectal cancer sample.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 247247Fibroblast growth factor 14
PRO_0000147610

Natural variations

Alternative sequence1 – 6464MAAAI…RLRRQ → MVKPVPLFRRTDFKLLLCNH KDLFFLRVSKLLDCFSPKSM WFLWNIFSKGTHMLQCLCGK SLKKNKNPT in isoform 2.
VSP_029051
Natural variant421G → C. Ref.8
VAR_022735
Natural variant1451F → S in SCA27. Ref.6
VAR_022736

Sequences

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

Last modified February 1, 1997. Version 1.
Checksum: 427C3373198B967E

FASTA24727,702
        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

« Hide

Isoform 2 (Isoform 1B) [UniParc].

Checksum: 305B0B9A3F56D577
Show »

FASTA25228,462

References

« Hide 'large scale' references
[1]"Fibroblast growth factor (FGF) homologous factors: new members of the FGF family implicated in nervous system development."
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.
Proc. Natl. Acad. Sci. U.S.A. 93:9850-9857(1996) [PubMed: 8790420] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Retina.
[2]Bonner T.I.
Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Brain.
[3]"Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia."
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. expand/collapse author list , 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.
Proc. Natl. Acad. Sci. U.S.A. 99:13675-13680(2002) [PubMed: 12364586] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]"The DNA sequence and analysis of human chromosome 13."
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. expand/collapse author list , 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.
Nature 428:522-528(2004) [PubMed: 15057823] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[6]"A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar (sic) ataxia."
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. 72:191-199(2003) [PubMed: 12489043] [Abstract]
Cited for: VARIANT SCA27 SER-145.
[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]"Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias."
Dalski A., Atici J., Kreuz F.R., Hellenbroich Y., Schwinger E., Zuehlke C.
Eur. J. Hum. Genet. 13:118-120(2005) [PubMed: 15470364] [Abstract]
Cited for: VARIANT CYS-42.
[9]"The consensus coding sequences of human breast and colorectal cancers."
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. expand/collapse author list , 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.
Science 314:268-274(2006) [PubMed: 16959974] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] CYS-44 (ISOFORM 2).
+Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ		U66200 mRNA. Translation: AAB18916.1.
AY188178 mRNA. Translation: AAO31806.1.
AE014293 Genomic DNA. Translation: AAN16025.1.
AL160153, AL512629, AL591909 Genomic DNA. Translation: CAC42528.2.
AL160153 expand/collapse EMBL AC list , AL356263, AL512629, AL591909 Genomic DNA. Translation: CAH73403.1.
AL512629 expand/collapse EMBL AC list , AL160153, AL356263, AL591909 Genomic DNA. Translation: CAI15768.1.
AL512629, AL591909, AL160153 Genomic DNA. Translation: CAI15769.1.
AL591909 expand/collapse EMBL AC list , AL160153, AL356263, AL512629 Genomic DNA. Translation: CAI15872.1.
AL591909, AL160153, AL512629 Genomic DNA. Translation: CAI15873.1.
AL356263 expand/collapse EMBL AC list , AL160153, AL512629, AL591909 Genomic DNA. Translation: CAI16837.1.
BC100920 mRNA. Translation: AAI00921.1.
BC100921 mRNA. Translation: AAI00922.1.
BC100922 mRNA. Translation: AAI00923.1.
IPIIPI00024253.
IPI00329411.
RefSeqNP_004106.1. NM_004115.3.
NP_787125.1. NM_175929.2.
UniGeneHs.508616.

3D structure databases

ProteinModelPortalQ92915.
SMRQ92915. Positions 66-203.
ModBaseSearch...

Protein-protein interaction databases

STRINGQ92915.

Polymorphism databases

DMDM2494463.

Proteomic databases

PRIDEQ92915.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000376143; ENSP00000365313; ENSG00000102466.
GeneID2259.
KEGGhsa:2259.
UCSCuc001vpe.2. human.
uc001vpf.2. human.

Organism-specific databases

CTD2259.
GeneCardsGC13M102373.
HGNCHGNC:3671. FGF14.
MIM601515. gene.
609307. phenotype.
neXtProtNX_Q92915.
Orphanet98764. Spinocerebellar ataxia type 27.
PharmGKBPA28110.
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG04782.
GeneTreeENSGT00590000082822.
HOVERGENHBG007580.
OMANSPSKNR.
OrthoDBEOG4NGGNC.

Gene expression databases

ArrayExpressQ92915.
BgeeQ92915.
CleanExHS_FGF14.
GenevestigatorQ92915.
GermOnlineENSG00000102466. Homo sapiens.

Family and domain databases

InterProIPR008996. Cytokine_IL1-like.
IPR002209. GF_heparin-bd.
IPR002348. IL1_HBGF.
[Graphical view]
KOK04358.
PANTHERPTHR11486. IL1_HBGF. 1 hit.
PfamPF00167. FGF. 1 hit.
[Graphical view]
PRINTSPR00263. HBGFFGF.
PR00262. IL1HBGF.
SMARTSM00442. FGF. 1 hit.
[Graphical view]
SUPFAMSSF50353. Cytok_IL1_like. 1 hit.
PROSITEPS00247. HBGF_FGF. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio9157.
SOURCESearch...

Entry information

Entry nameFGF14_HUMAN
AccessionPrimary (citable) accession number: Q92915
Secondary accession number(s): Q86YN7, Q96QX6
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: February 1, 1997
Last modified: January 25, 2012
This is version 104 of the entry and version 1 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

Human chromosome 13

Human chromosome 13: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

SIMILARITY comments

Index of protein domains and families

to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·Documents