FGF14_HUMAN
ID FGF14_HUMAN Reviewed; 247 AA.
AC Q92915; Q86YN7; Q96QX6;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 01-FEB-1997, sequence version 1.
DT 03-AUG-2022, entry version 180.
DE RecName: Full=Fibroblast growth factor 14;
DE Short=FGF-14;
DE AltName: Full=Fibroblast growth factor homologous factor 4;
DE Short=FHF-4;
GN Name=FGF14; Synonyms=FHF4;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Retina;
RX PubMed=8790420; DOI=10.1073/pnas.93.18.9850;
RA Smallwood P.M., Munoz-Sanjuan I., Tong P., Macke J.P., Hendry S.H.,
RA Gilbert D.J., Copeland N.G., Jenkins N.A., Nathans J.;
RT "Fibroblast growth factor (FGF) homologous factors: new members of the FGF
RT family implicated in nervous system development.";
RL Proc. Natl. Acad. Sci. U.S.A. 93:9850-9857(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RC TISSUE=Brain;
RA Bonner T.I.;
RL Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=12364586; DOI=10.1073/pnas.182412499;
RA Chumakov I., Blumenfeld M., Guerassimenko O., Cavarec L., Palicio M.,
RA Abderrahim H., Bougueleret L., Barry C., Tanaka H., La Rosa P., Puech A.,
RA Tahri N., Cohen-Akenine A., Delabrosse S., Lissarrague S., Picard F.-P.,
RA Maurice K., Essioux L., Millasseau P., Grel P., Debailleul V., Simon A.-M.,
RA Caterina D., Dufaure I., Malekzadeh K., Belova M., Luan J.-J., Bouillot M.,
RA Sambucy J.-L., Primas G., Saumier M., Boubkiri N., Martin-Saumier S.,
RA Nasroune M., Peixoto H., Delaye A., Pinchot V., Bastucci M., Guillou S.,
RA Chevillon M., Sainz-Fuertes R., Meguenni S., Aurich-Costa J., Cherif D.,
RA Gimalac A., Van Duijn C., Gauvreau D., Ouellette G., Fortier I.,
RA Raelson J., Sherbatich T., Riazanskay N., Rogaev E., Raeymaekers P.,
RA Aerssens J., Konings F., Luyten W., Macciardi F., Sham P.C., Straub R.E.,
RA Weinberger D.R., Cohen N., Cohen D.;
RT "Genetic and physiological data implicating the new human gene G72 and the
RT gene for D-amino acid oxidase in schizophrenia.";
RL Proc. Natl. Acad. Sci. U.S.A. 99:13675-13680(2002).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057823; DOI=10.1038/nature02379;
RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA Rogers J., Ross M.T.;
RT "The DNA sequence and analysis of human chromosome 13.";
RL Nature 428:522-528(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP INTERACTION WITH SCN8A.
RX PubMed=26900580; DOI=10.1002/acn3.276;
RA Wagnon J.L., Barker B.S., Hounshell J.A., Haaxma C.A., Shealy A., Moss T.,
RA Parikh S., Messer R.D., Patel M.K., Meisler M.H.;
RT "Pathogenic mechanism of recurrent mutations of SCN8A in epileptic
RT encephalopathy.";
RL Ann. Clin. Transl. Neurol. 3:114-123(2016).
RN [7]
RP VARIANT SCA27 SER-145.
RX PubMed=12489043; DOI=10.1086/345488;
RA van Swieten J.C., Brusse E., de Graaf B.M., Krieger E., van de Graaf R.,
RA de Koning I., Maat-Kievit A., Leegwater P., Dooijes D., Oostra B.A.,
RA Heutink P.;
RT "A mutation in the fibroblast growth factor 14 gene is associated with
RT autosomal dominant cerebellar (sic) ataxia.";
RL Am. J. Hum. Genet. 72:191-199(2003).
RN [8]
RP ERRATUM OF PUBMED:12489043.
RA van Swieten J.C., Brusse E., de Graaf B.M., Krieger E., van de Graaf R.,
RA de Koning I., Maat-Kievit A., Leegwater P., Dooijes D., Oostra B.A.,
RA Heutink P.;
RL Am. J. Hum. Genet. 72:1078-1078(2003).
RN [9]
RP VARIANT CYS-42.
RX PubMed=15470364; DOI=10.1038/sj.ejhg.5201286;
RA Dalski A., Atici J., Kreuz F.R., Hellenbroich Y., Schwinger E., Zuehlke C.;
RT "Mutation analysis in the fibroblast growth factor 14 gene: frameshift
RT mutation and polymorphisms in patients with inherited ataxias.";
RL Eur. J. Hum. Genet. 13:118-120(2005).
RN [10]
RP VARIANT [LARGE SCALE ANALYSIS] CYS-44 (ISOFORM 2).
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: Probably involved in nervous system development and function.
CC -!- SUBUNIT: Interacts with SCN8A (PubMed:26900580).
CC {ECO:0000269|PubMed:26900580}.
CC -!- INTERACTION:
CC Q92915; P05067: APP; NbExp=3; IntAct=EBI-10489272, EBI-77613;
CC Q92915-2; Q13085-4: ACACA; NbExp=3; IntAct=EBI-12836320, EBI-12562760;
CC Q92915-2; Q92843: BCL2L2; NbExp=3; IntAct=EBI-12836320, EBI-707714;
CC Q92915-2; P35222: CTNNB1; NbExp=3; IntAct=EBI-12836320, EBI-491549;
CC Q92915-2; Q15438: CYTH1; NbExp=3; IntAct=EBI-12836320, EBI-997830;
CC Q92915-2; Q08426: EHHADH; NbExp=3; IntAct=EBI-12836320, EBI-2339219;
CC Q92915-2; Q9NWN3: FBXO34; NbExp=3; IntAct=EBI-12836320, EBI-719816;
CC Q92915-2; Q14318: FKBP8; NbExp=3; IntAct=EBI-12836320, EBI-724839;
CC Q92915-2; Q9BWH2: FUNDC2; NbExp=3; IntAct=EBI-12836320, EBI-714482;
CC Q92915-2; Q99525: H4C7; NbExp=3; IntAct=EBI-12836320, EBI-10294329;
CC Q92915-2; P35452-2: HOXD12; NbExp=3; IntAct=EBI-12836320, EBI-17244356;
CC Q92915-2; P27338: MAOB; NbExp=3; IntAct=EBI-12836320, EBI-3911344;
CC Q92915-2; Q14D33: RTP5; NbExp=3; IntAct=EBI-12836320, EBI-10217913;
CC Q92915-2; Q9UQD0: SCN8A; NbExp=3; IntAct=EBI-12836320, EBI-2682072;
CC Q92915-2; Q14683: SMC1A; NbExp=3; IntAct=EBI-12836320, EBI-80690;
CC Q92915-2; Q17RD7: SYT16; NbExp=3; IntAct=EBI-12836320, EBI-10238936;
CC Q92915-2; P49638: TTPA; NbExp=3; IntAct=EBI-12836320, EBI-10210710;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q92915-1; Sequence=Displayed;
CC Name=2; Synonyms=Isoform 1B;
CC IsoId=Q92915-2; Sequence=VSP_029051;
CC -!- TISSUE SPECIFICITY: Nervous system.
CC -!- DISEASE: Spinocerebellar ataxia 27 (SCA27) [MIM:609307]:
CC Spinocerebellar ataxia is a clinically and genetically heterogeneous
CC group of cerebellar disorders. Patients show progressive incoordination
CC of gait and often poor coordination of hands, speech and eye movements,
CC due to degeneration of the cerebellum with variable involvement of the
CC brainstem and spinal cord. SCA27 is an autosomal dominant cerebellar
CC ataxia (ADCA). It is a slowly progressive disorder, with onset in late-
CC childhood to early adulthood, characterized by ataxia with tremor,
CC orofacial dyskinesia, psychiatric symptoms and cognitive deficits.
CC {ECO:0000269|PubMed:12489043}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the heparin-binding growth factors family.
CC {ECO:0000305}.
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DR EMBL; U66200; AAB18916.1; -; mRNA.
DR EMBL; AY188178; AAO31806.1; -; mRNA.
DR EMBL; AE014293; AAN16025.1; -; Genomic_DNA.
DR EMBL; AL160153; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL512629; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL591909; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL356263; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC100920; AAI00921.1; -; mRNA.
DR EMBL; BC100921; AAI00922.1; -; mRNA.
DR EMBL; BC100922; AAI00923.1; -; mRNA.
DR CCDS; CCDS9500.1; -. [Q92915-2]
DR CCDS; CCDS9501.1; -. [Q92915-1]
DR RefSeq; NP_004106.1; NM_004115.3. [Q92915-1]
DR RefSeq; NP_787125.1; NM_175929.2. [Q92915-2]
DR AlphaFoldDB; Q92915; -.
DR SMR; Q92915; -.
DR BioGRID; 108550; 42.
DR IntAct; Q92915; 18.
DR STRING; 9606.ENSP00000365301; -.
DR BindingDB; Q92915; -.
DR ChEMBL; CHEMBL4739699; -.
DR iPTMnet; Q92915; -.
DR PhosphoSitePlus; Q92915; -.
DR BioMuta; FGF14; -.
DR DMDM; 2494463; -.
DR MassIVE; Q92915; -.
DR PaxDb; Q92915; -.
DR PeptideAtlas; Q92915; -.
DR PRIDE; Q92915; -.
DR ProteomicsDB; 75600; -. [Q92915-1]
DR ProteomicsDB; 75601; -. [Q92915-2]
DR Antibodypedia; 35193; 209 antibodies from 34 providers.
DR DNASU; 2259; -.
DR Ensembl; ENST00000376131.8; ENSP00000365301.3; ENSG00000102466.16. [Q92915-2]
DR Ensembl; ENST00000376143.5; ENSP00000365313.4; ENSG00000102466.16. [Q92915-1]
DR GeneID; 2259; -.
DR KEGG; hsa:2259; -.
DR MANE-Select; ENST00000376143.5; ENSP00000365313.4; NM_004115.4; NP_004106.1.
DR UCSC; uc001vpe.3; human. [Q92915-1]
DR CTD; 2259; -.
DR DisGeNET; 2259; -.
DR GeneCards; FGF14; -.
DR HGNC; HGNC:3671; FGF14.
DR HPA; ENSG00000102466; Tissue enhanced (brain, cervix).
DR MalaCards; FGF14; -.
DR MIM; 601515; gene.
DR MIM; 609307; phenotype.
DR neXtProt; NX_Q92915; -.
DR OpenTargets; ENSG00000102466; -.
DR Orphanet; 98764; Spinocerebellar ataxia type 27.
DR PharmGKB; PA28110; -.
DR VEuPathDB; HostDB:ENSG00000102466; -.
DR eggNOG; KOG3885; Eukaryota.
DR GeneTree; ENSGT00940000156984; -.
DR HOGENOM; CLU_081609_2_0_1; -.
DR InParanoid; Q92915; -.
DR OMA; XAMYREP; -.
DR OrthoDB; 1192273at2759; -.
DR PhylomeDB; Q92915; -.
DR TreeFam; TF317805; -.
DR PathwayCommons; Q92915; -.
DR Reactome; R-HSA-5576892; Phase 0 - rapid depolarisation.
DR SignaLink; Q92915; -.
DR SIGNOR; Q92915; -.
DR BioGRID-ORCS; 2259; 6 hits in 1067 CRISPR screens.
DR ChiTaRS; FGF14; human.
DR GeneWiki; FGF14; -.
DR GenomeRNAi; 2259; -.
DR Pharos; Q92915; Tbio.
DR PRO; PR:Q92915; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; Q92915; protein.
DR Bgee; ENSG00000102466; Expressed in secondary oocyte and 136 other tissues.
DR Genevisible; Q92915; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005576; C:extracellular region; IEA:InterPro.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0008083; F:growth factor activity; TAS:ProtInc.
DR GO; GO:0008201; F:heparin binding; IDA:MGI.
DR GO; GO:0017080; F:sodium channel regulator activity; IBA:GO_Central.
DR GO; GO:0007267; P:cell-cell signaling; TAS:ProtInc.
DR GO; GO:0007254; P:JNK cascade; IPI:MGI.
DR GO; GO:0007399; P:nervous system development; TAS:ProtInc.
DR GO; GO:1905150; P:regulation of voltage-gated sodium channel activity; IBA:GO_Central.
DR GO; GO:0007165; P:signal transduction; TAS:ProtInc.
DR CDD; cd00058; FGF; 1.
DR InterPro; IPR028284; FGF14.
DR InterPro; IPR002209; Fibroblast_GF_fam.
DR InterPro; IPR008996; IL1/FGF.
DR PANTHER; PTHR11486; PTHR11486; 1.
DR PANTHER; PTHR11486:SF18; PTHR11486:SF18; 1.
DR Pfam; PF00167; FGF; 1.
DR PRINTS; PR00263; HBGFFGF.
DR SMART; SM00442; FGF; 1.
DR SUPFAM; SSF50353; SSF50353; 1.
DR PROSITE; PS00247; HBGF_FGF; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Disease variant; Growth factor; Neurodegeneration;
KW Nucleus; Reference proteome; Spinocerebellar ataxia.
FT CHAIN 1..247
FT /note="Fibroblast growth factor 14"
FT /id="PRO_0000147610"
FT REGION 1..38
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 214..247
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 13..29
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 222..247
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..64
FT /note="MAAAIASGLIRQKRQAREQHWDRPSASRRRSSPSKNRGLCNGNLVDIFSKVR
FT IFGLKKRRLRRQ -> MVKPVPLFRRTDFKLLLCNHKDLFFLRVSKLLDCFSPKSMWFL
FT WNIFSKGTHMLQCLCGKSLKKNKNPT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334, ECO:0000303|Ref.2"
FT /id="VSP_029051"
FT VARIANT 42
FT /note="G -> C (in dbSNP:rs141304687)"
FT /evidence="ECO:0000269|PubMed:15470364"
FT /id="VAR_022735"
FT VARIANT 145
FT /note="F -> S (in SCA27; dbSNP:rs104894393)"
FT /evidence="ECO:0000269|PubMed:12489043"
FT /id="VAR_022736"
FT VARIANT Q92915-2:44
FT /note="W -> C (in a colorectal cancer)"
FT /evidence="ECO:0000305"
FT /id="VAR_082821"
SQ SEQUENCE 247 AA; 27702 MW; 427C3373198B967E CRC64;
MAAAIASGLI RQKRQAREQH WDRPSASRRR SSPSKNRGLC NGNLVDIFSK VRIFGLKKRR
LRRQDPQLKG IVTRLYCRQG YYLQMHPDGA LDGTKDDSTN STLFNLIPVG LRVVAIQGVK
TGLYIAMNGE GYLYPSELFT PECKFKESVF ENYYVIYSSM LYRQQESGRA WFLGLNKEGQ
AMKGNRVKKT KPAAHFLPKP LEVAMYREPS LHDVGETVPK PGVTPSKSTS ASAIMNGGKP
VNKSKTT
