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Q92915

- FGF14_HUMAN

UniProt

Q92915 - FGF14_HUMAN

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Protein

Fibroblast growth factor 14

Gene

FGF14

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Probably involved in nervous system development and function.

GO - Molecular functioni

  1. growth factor activity Source: ProtInc
  2. heparin binding Source: MGI

GO - Biological processi

  1. adult locomotory behavior Source: Ensembl
  2. cell-cell signaling Source: ProtInc
  3. cell death Source: UniProtKB-KW
  4. JNK cascade Source: MGI
  5. nervous system development Source: ProtInc
  6. neuromuscular process Source: Ensembl
  7. positive regulation of sodium ion transport Source: Ensembl
  8. signal transduction Source: ProtInc
  9. synaptic transmission Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Growth factor

Names & Taxonomyi

Protein namesi
Recommended name:
Fibroblast growth factor 14
Short name:
FGF-14
Alternative name(s):
Fibroblast growth factor homologous factor 4
Short name:
FHF-4
Gene namesi
Name:FGF14
Synonyms:FHF4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 13

Organism-specific databases

HGNCiHGNC:3671. FGF14.

Subcellular locationi

Nucleus Curated

GO - Cellular componenti

  1. extracellular region Source: InterPro
  2. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Spinocerebellar ataxia 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti145 – 1451F → S in SCA27. 1 Publication
VAR_022736

Keywords - Diseasei

Disease mutation, Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

MIMi609307. phenotype.
Orphaneti98764. Spinocerebellar ataxia type 27.
PharmGKBiPA28110.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 247247Fibroblast growth factor 14PRO_0000147610Add
BLAST

Proteomic databases

PaxDbiQ92915.
PRIDEiQ92915.

PTM databases

PhosphoSiteiQ92915.

Expressioni

Tissue specificityi

Nervous system.

Gene expression databases

BgeeiQ92915.
CleanExiHS_FGF14.
GenevestigatoriQ92915.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000365301.

Structurei

3D structure databases

ProteinModelPortaliQ92915.
SMRiQ92915. Positions 66-203.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiNOG308177.
GeneTreeiENSGT00760000118859.
HOGENOMiHOG000290676.
HOVERGENiHBG007580.
InParanoidiQ92915.
KOiK04358.
OMAiAKVESCI.
OrthoDBiEOG7J447D.
PhylomeDBiQ92915.
TreeFamiTF317805.

Family and domain databases

InterProiIPR008996. Cytokine_IL1-like.
IPR028284. FGF14.
IPR002209. Fibroblast_GF_fam.
IPR028142. IL-1_fam/FGF_fam.
[Graphical view]
PANTHERiPTHR11486. PTHR11486. 1 hit.
PTHR11486:SF18. PTHR11486:SF18. 1 hit.
PRINTSiPR00263. HBGFFGF.
PR00262. IL1HBGF.
SMARTiSM00442. FGF. 1 hit.
[Graphical view]
SUPFAMiSSF50353. SSF50353. 1 hit.
PROSITEiPS00247. HBGF_FGF. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q92915-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MAAAIASGLI RQKRQAREQH WDRPSASRRR SSPSKNRGLC NGNLVDIFSK
60 70 80 90 100
VRIFGLKKRR LRRQDPQLKG IVTRLYCRQG YYLQMHPDGA LDGTKDDSTN
110 120 130 140 150
STLFNLIPVG LRVVAIQGVK TGLYIAMNGE GYLYPSELFT PECKFKESVF
160 170 180 190 200
ENYYVIYSSM LYRQQESGRA WFLGLNKEGQ AMKGNRVKKT KPAAHFLPKP
210 220 230 240
LEVAMYREPS LHDVGETVPK PGVTPSKSTS ASAIMNGGKP VNKSKTT
Length:247
Mass (Da):27,702
Last modified:February 1, 1997 - v1
Checksum:i427C3373198B967E
GO
Isoform 2 (identifier: Q92915-2) [UniParc]FASTAAdd to Basket

Also known as: Isoform 1B

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

Show »
Length:252
Mass (Da):28,462
Checksum:i305B0B9A3F56D577
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti42 – 421G → C.1 Publication
Corresponds to variant rs141304687 [ dbSNP | Ensembl ].
VAR_022735
Natural varianti145 – 1451F → S in SCA27. 1 Publication
VAR_022736
Isoform 2 (identifier: Q92915-2)
Natural varianti44 – 441W → C in a colorectal cancer sample.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 6464MAAAI…RLRRQ → MVKPVPLFRRTDFKLLLCNH KDLFFLRVSKLLDCFSPKSM WFLWNIFSKGTHMLQCLCGK SLKKNKNPT in isoform 2. 2 PublicationsVSP_029051Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
, 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.
CCDSiCCDS9500.1. [Q92915-2]
CCDS9501.1. [Q92915-1]
RefSeqiNP_004106.1. NM_004115.3. [Q92915-1]
NP_787125.1. NM_175929.2. [Q92915-2]
UniGeneiHs.508616.

Genome annotation databases

EnsembliENST00000376131; ENSP00000365301; ENSG00000102466. [Q92915-2]
ENST00000376143; ENSP00000365313; ENSG00000102466. [Q92915-1]
GeneIDi2259.
KEGGihsa:2259.
UCSCiuc001vpe.2. human. [Q92915-1]
uc001vpf.2. human. [Q92915-2]

Polymorphism databases

DMDMi2494463.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
, 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 .
CCDSi CCDS9500.1. [Q92915-2 ]
CCDS9501.1. [Q92915-1 ]
RefSeqi NP_004106.1. NM_004115.3. [Q92915-1 ]
NP_787125.1. NM_175929.2. [Q92915-2 ]
UniGenei Hs.508616.

3D structure databases

ProteinModelPortali Q92915.
SMRi Q92915. Positions 66-203.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000365301.

PTM databases

PhosphoSitei Q92915.

Polymorphism databases

DMDMi 2494463.

Proteomic databases

PaxDbi Q92915.
PRIDEi Q92915.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000376131 ; ENSP00000365301 ; ENSG00000102466 . [Q92915-2 ]
ENST00000376143 ; ENSP00000365313 ; ENSG00000102466 . [Q92915-1 ]
GeneIDi 2259.
KEGGi hsa:2259.
UCSCi uc001vpe.2. human. [Q92915-1 ]
uc001vpf.2. human. [Q92915-2 ]

Organism-specific databases

CTDi 2259.
GeneCardsi GC13M102373.
HGNCi HGNC:3671. FGF14.
MIMi 601515. gene.
609307. phenotype.
neXtProti NX_Q92915.
Orphaneti 98764. Spinocerebellar ataxia type 27.
PharmGKBi PA28110.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG308177.
GeneTreei ENSGT00760000118859.
HOGENOMi HOG000290676.
HOVERGENi HBG007580.
InParanoidi Q92915.
KOi K04358.
OMAi AKVESCI.
OrthoDBi EOG7J447D.
PhylomeDBi Q92915.
TreeFami TF317805.

Miscellaneous databases

ChiTaRSi FGF14. human.
GeneWikii FGF14.
GenomeRNAii 2259.
NextBioi 9157.
PROi Q92915.
SOURCEi Search...

Gene expression databases

Bgeei Q92915.
CleanExi HS_FGF14.
Genevestigatori Q92915.

Family and domain databases

InterProi IPR008996. Cytokine_IL1-like.
IPR028284. FGF14.
IPR002209. Fibroblast_GF_fam.
IPR028142. IL-1_fam/FGF_fam.
[Graphical view ]
PANTHERi PTHR11486. PTHR11486. 1 hit.
PTHR11486:SF18. PTHR11486:SF18. 1 hit.
PRINTSi PR00263. HBGFFGF.
PR00262. IL1HBGF.
SMARTi SM00442. FGF. 1 hit.
[Graphical view ]
SUPFAMi SSF50353. SSF50353. 1 hit.
PROSITEi PS00247. HBGF_FGF. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: VARIANT SCA27 SER-145.
  7. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT CYS-42.
  8. Cited for: VARIANT [LARGE SCALE ANALYSIS] CYS-44 (ISOFORM 2).

Entry informationi

Entry nameiFGF14_HUMAN
AccessioniPrimary (citable) accession number: Q92915
Secondary accession number(s): Q86YN7, Q96QX6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: February 1, 1997
Last modified: November 26, 2014
This is version 130 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3