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Q92915

- FGF14_HUMAN

UniProt

Q92915 - FGF14_HUMAN

Protein

Fibroblast growth factor 14

Gene

FGF14

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 128 (01 Oct 2014)
      Sequence version 1 (01 Feb 1997)
      Previous versions | rss
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    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

    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-SubCell

    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.
    HOGENOMiHOG000290676.
    HOVERGENiHBG007580.
    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.
    PfamiPF00167. FGF. 1 hit.
    [Graphical view]
    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

    MAAAIASGLI RQKRQAREQH WDRPSASRRR SSPSKNRGLC NGNLVDIFSK    50
    VRIFGLKKRR LRRQDPQLKG IVTRLYCRQG YYLQMHPDGA LDGTKDDSTN 100
    STLFNLIPVG LRVVAIQGVK TGLYIAMNGE GYLYPSELFT PECKFKESVF 150
    ENYYVIYSSM LYRQQESGRA WFLGLNKEGQ AMKGNRVKKT KPAAHFLPKP 200
    LEVAMYREPS LHDVGETVPK PGVTPSKSTS ASAIMNGGKP VNKSKTT 247
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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.
    HOGENOMi HOG000290676.
    HOVERGENi HBG007580.
    KOi K04358.
    OMAi AKVESCI.
    OrthoDBi EOG7J447D.
    PhylomeDBi Q92915.
    TreeFami TF317805.

    Miscellaneous databases

    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.
    Pfami PF00167. FGF. 1 hit.
    [Graphical view ]
    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

    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: October 1, 2014
    This is version 128 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