Reviewed, UniProtKB/Swiss-Prot Q92915 (FGF14_HUMAN)

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	247 AA.
Sequence status	Complete.
Protein existence	Evidence 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 component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Neurodegeneration Spinocerebellar ataxia
Molecular function	Growth factor
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	JNK cascade Inferred from physical interaction. Source: MGI cell death Inferred from electronic annotation. Source: UniProtKB-KW cell-cell signaling Ref.1 Traceable author statement. Source: ProtInc nervous system development Ref.1 Traceable author statement. Source: ProtInc
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	growth factor activity Ref.1 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
	Natural variant	44	1	W → C in a colorectal cancer sample.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 247	247	Fibroblast growth factor 14		PRO_0000147610
Natural variations
	Alternative sequence	1 – 64	64	MAAAI…RLRRQ → MVKPVPLFRRTDFKLLLCNH KDLFFLRVSKLLDCFSPKSM WFLWNIFSKGTHMLQCLCGK SLKKNKNPT in isoform 2.		VSP_029051
	Natural variant	42	1	G → C		VAR_022735
	Natural variant	145	1	F → S in SCA27. Ref.6		VAR_022736

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 1, 1997. Version 1. Checksum: 427C3373198B967E	FASTA	247	27,702
	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
	Isoform 2 (Isoform 1B). Checksum: 305B0B9A3F56D577	FASTA	252	28,462
	10 20 30 40 50 60 MVKPVPLFRR TDFKLLLCNH KDLFFLRVSK LLDCFSPKSM WFLWNIFSKG THMLQCLCGK 70 80 90 100 110 120 SLKKNKNPTD PQLKGIVTRL YCRQGYYLQM HPDGALDGTK DDSTNSTLFN LIPVGLRVVA 130 140 150 160 170 180 IQGVKTGLYI AMNGEGYLYP SELFTPECKF KESVFENYYV IYSSMLYRQQ ESGRAWFLGL 190 200 210 220 230 240 NKEGQAMKGN RVKKTKPAAH FLPKPLEVAM YREPSLHDVG ETVPKPGVTP SKSTSASAIM 250 NGGKPVNKSK TT

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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. AE014303 Genomic DNA. Translation: AAN16025.1. AL160153, AL512629, AL591909 Genomic DNA. Translation: CAC42528.2. AL160153 , AL356263, AL512629, AL591909 Genomic DNA. Translation: CAH73403.1. AL512629 , AL160153, AL356263, AL591909 Genomic DNA. Translation: CAI15768.1. AL512629, AL591909, AL160153 Genomic DNA. Translation: CAI15769.1. AL591909 , AL160153, AL356263, AL512629 Genomic DNA. Translation: CAI15872.1. AL591909, AL160153, AL512629 Genomic DNA. Translation: CAI15873.1. AL356263 , AL160153, AL512629, AL591909 Genomic DNA. Translation: CAI16837.1. BC100920 mRNA. Translation: AAI00921.1. BC100921 mRNA. Translation: AAI00922.1. BC100922 mRNA. Translation: AAI00923.1.
IPI	IPI00024253. IPI00329411.
RefSeq	NP_004106.1. NP_787125.1.
UniGene	Hs.508616
3D structure databases
SMR	Q92915. Positions 66-203.
ModBase	Search...
Protein-protein interaction databases
STRING	Q92915.
Proteomic databases
PRIDE	Q92915.
Genome annotation databases
Ensembl	ENST00000376143; ENSP00000365313; ENSG00000102466; Homo sapiens. [Genome view]
GeneID	2259.
KEGG	hsa:2259.
UCSC	uc001vpe.2. human. uc001vpf.2. human.
Organism-specific databases
CTD	2259.
GeneCards	GC13M101173.
HGNC	HGNC:3671. FGF14.
MIM	601515. gene. 609307. phenotype.
Orphanet	98764. Ataxia, spinocerebellar, type 27.
PharmGKB	PA28110.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG04782.
HOVERGEN	Q92915.
OMA	NSPSKNR.
OrthoDB	EOG9PP126.
Gene expression databases
ArrayExpress	Q92915.
Bgee	Q92915.
CleanEx	HS_FGF14.
Genevestigator	Q92915.
GermOnline	ENSG00000102466. Homo sapiens.
Family and domain databases
InterPro	IPR008996. Cytokine_IL1-like. IPR002209. GF_heparin_bd. IPR002348. IL1_HBGF. [Graphical view]
PANTHER	PTHR11486. IL1_HBGF. 1 hit.
Pfam	PF00167. FGF. 1 hit. [Graphical view]
PRINTS	PR00263. HBGFFGF. PR00262. IL1HBGF.
SMART	SM00442. FGF. 1 hit. [Graphical view]
PROSITE	PS00247. HBGF_FGF. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	9157.
SOURCE	Search...

Entry information

Entry name

FGF14_HUMAN

Accession

Primary (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 19, 2010
This is version 89 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.