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fibroblast growth factor 14 isoform 1B [Homo sapiens]

NCBI Reference Sequence: NP_787125.1

Identical Proteins FASTA Graphics 

LOCUS       NP_787125                252 aa            linear   PRI 15-OCT-2024
DEFINITION  fibroblast growth factor 14 isoform 1B [Homo sapiens].
ACCESSION   NP_787125
VERSION     NP_787125.1
DBSOURCE    REFSEQ: accession NM_175929.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 252)
  AUTHORS   Mohren,L., Erdlenbruch,F., Leitao,E., Kilpert,F., Hones,G.S.,
            Kaya,S., Schroder,C., Thieme,A., Sturm,M., Park,J., Schluter,A.,
            Ruiz,M., Morales de la Prida,M., Casasnovas,C., Becker,K.,
            Roggenbuck,U., Pechlivanis,S., Kaiser,F.J., Synofzik,M., Wirth,T.,
            Anheim,M., Haack,T.B., Lockhart,P.J., Jockel,K.H., Pujol,A.,
            Klebe,S., Timmann,D. and Depienne,C.
  TITLE     Identification and characterisation of pathogenic and
            non-pathogenic FGF14 repeat expansions
  JOURNAL   Nat Commun 15 (1), 7665 (2024)
   PUBMED   39227614
  REMARK    GeneRIF: Identification and characterisation of pathogenic and
            non-pathogenic FGF14 repeat expansions.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 252)
  AUTHORS   Zheng,Z.H., Cao,C.Y., Cheng,B., Yuan,R.Y., Zeng,Y.H., Guo,Z.B.,
            Qiu,Y.S., Lv,W.Q., Liang,H., Li,J.L., Zhang,W.X., Fang,M.K.,
            Sun,Y.H., Lin,W., Hong,J.M., Gan,S.R., Wang,N., Chen,W.J., Du,G.Q.
            and Fang,L.
  TITLE     Characteristics of tandem repeat inheritance and sympathetic nerve
            involvement in GAA-FGF14 ataxia
  JOURNAL   J Hum Genet 69 (9), 433-440 (2024)
   PUBMED   38866925
  REMARK    GeneRIF: Characteristics of tandem repeat inheritance and
            sympathetic nerve involvement in GAA-FGF14 ataxia.
REFERENCE   3  (residues 1 to 252)
  AUTHORS   Pellerin,D., Del Gobbo,G.F., Couse,M., Dolzhenko,E.,
            Nageshwaran,S.K., Cheung,W.A., Xu,I.R.L., Dicaire,M.J.,
            Spurdens,G., Matos-Rodrigues,G., Stevanovski,I., Scriba,C.K.,
            Rebelo,A., Roth,V., Wandzel,M., Bonnet,C., Ashton,C., Agarwal,A.,
            Peter,C., Hasson,D., Tsankova,N.M., Dewar,K., Lamont,P.J.,
            Laing,N.G., Renaud,M., Houlden,H., Synofzik,M., Usdin,K.,
            Nussenzweig,A., Napierala,M., Chen,Z., Jiang,H., Deveson,I.W.,
            Ravenscroft,G., Akbarian,S., Eberle,M.A., Boycott,K.M.,
            Pastinen,T., Brais,B., Zuchner,S. and Danzi,M.C.
  CONSRTM   All of Us Research Program Long Read Working Group
  TITLE     A common flanking variant is associated with enhanced stability of
            the FGF14-SCA27B repeat locus
  JOURNAL   Nat Genet 56 (7), 1366-1370 (2024)
   PUBMED   38937606
  REMARK    GeneRIF: A common flanking variant is associated with enhanced
            stability of the FGF14-SCA27B repeat locus.
REFERENCE   4  (residues 1 to 252)
  AUTHORS   Ouyang,R., Wan,L., Pellerin,D., Long,Z., Hu,J., Jiang,Q., Wang,C.,
            Peng,L., Peng,H., He,L., Qiu,R., Wang,J., Guo,J., Shen,L.,
            Brais,B., Danzi,M.C., Zuchner,S., Tang,B., Chen,Z. and Jiang,H.
  TITLE     The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia
            in China: a large cohort study
  JOURNAL   EBioMedicine 102, 105077 (2024)
   PUBMED   38513302
  REMARK    GeneRIF: The genetic landscape and phenotypic spectrum of GAA-FGF14
            ataxia in China: a large cohort study.
REFERENCE   5  (residues 1 to 252)
  AUTHORS   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. and Heutink,P.
  TITLE     A mutation in the fibroblast growth factor 14 gene is associated
            with autosomal dominant cerebellar ataxia [corrected]
  JOURNAL   Am J Hum Genet 72 (1), 191-199 (2003)
   PUBMED   12489043
  REMARK    GeneRIF: A mutation in the fibroblast growth factor 14 gene is
            associated with autosomal dominant cerebral ataxia
            Erratum:[Am J Hum Genet. 2003 Apr;72(4):1078]
REFERENCE   6  (residues 1 to 252)
  AUTHORS   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., Riazanskaia,N., Rogaev,E.,
            Raeymaekers,P., Aerssens,J., Konings,F., Luyten,W., Macciardi,F.,
            Sham,P.C., Straub,R.E., Weinberger,D.R., Cohen,N. and Cohen,D.
  TITLE     Genetic and physiological data implicating the new human gene G72
            and the gene for D-amino acid oxidase in schizophrenia
  JOURNAL   Proc Natl Acad Sci U S A 99 (21), 13675-13680 (2002)
   PUBMED   12364586
  REMARK    Erratum:[Proc Natl Acad Sci U S A 2002 Dec 24;99(26):17221.
            Ouelette, G [corrected to Ouellette, G]; Realson, J [corrected to
            Raelson, J]]
REFERENCE   7  (residues 1 to 252)
  AUTHORS   Wang,Q., Bardgett,M.E., Wong,M., Wozniak,D.F., Lou,J., McNeil,B.D.,
            Chen,C., Nardi,A., Reid,D.C., Yamada,K. and Ornitz,D.M.
  TITLE     Ataxia and paroxysmal dyskinesia in mice lacking axonally
            transported FGF14
  JOURNAL   Neuron 35 (1), 25-38 (2002)
   PUBMED   12123606
REFERENCE   8  (residues 1 to 252)
  AUTHORS   Smallwood,P.M., Munoz-Sanjuan,I., Tong,P., Macke,J.P., Hendry,S.H.,
            Gilbert,D.J., Copeland,N.G., Jenkins,N.A. and Nathans,J.
  TITLE     Fibroblast growth factor (FGF) homologous factors: new members of
            the FGF family implicated in nervous system development
  JOURNAL   Proc Natl Acad Sci U S A 93 (18), 9850-9857 (1996)
   PUBMED   8790420
REFERENCE   9  (residues 1 to 252)
  AUTHORS   Pellerin,D., Danzi,M., Renaud,M., Houlden,H., Synofzik,M.,
            Zuchner,S. and Brais,B.
  TITLE     GAA-FGF14-Related Ataxia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   38271551
REFERENCE   10 (residues 1 to 252)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL356263.12, AL512629.7,
            AL591909.5 and AL160153.11.
            
            Summary: The protein encoded by this gene is a member of the
            fibroblast growth factor (FGF) family. FGF family members possess
            broad mitogenic and cell survival activities, and are involved in a
            variety of biological processes, including embryonic development,
            cell growth, morphogenesis, tissue repair, tumor growth and
            invasion. A mutation in this gene is associated with autosomal
            dominant cerebral ataxia. Alternatively spliced transcript variants
            have been found for this gene. [provided by RefSeq, Jul 2008].
            
            Sequence Note:.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.111100.1,
                                           SRR1803615.30879.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968968,
                                           SAMEA2142586 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..252
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q33.1"
     Protein         1..252
                     /product="fibroblast growth factor 14 isoform 1B"
                     /note="fibroblast growth factor homologous factor 4;
                     nystagmus 4, congenital autosomal dominant"
                     /calculated_mol_wt=28331
     Region          70..214
                     /region_name="beta-trefoil_FGF14"
                     /note="FGF domain, beta-trefoil fold, found in fibroblast
                     growth factor 14 (FGF14) and similar proteins; cd23330"
                     /db_xref="CDD:467016"
     CDS             1..252
                     /gene="FGF14"
                     /gene_synonym="FGF-14; FHF-4; FHF4; NYS4; SCA27; SCA27A;
                     SCA27B"
                     /coded_by="NM_175929.3:371..1129"
                     /note="isoform 1B is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS9500.1"
                     /db_xref="GeneID:2259"
                     /db_xref="HGNC:HGNC:3671"
                     /db_xref="MIM:601515"
ORIGIN      
        1 mvkpvplfrr tdfklllcnh kdlfflrvsk lldcfspksm wflwnifskg thmlqclcgk
       61 slkknknptd pqlkgivtrl ycrqgyylqm hpdgaldgtk ddstnstlfn lipvglrvva
      121 iqgvktglyi amngegylyp selftpeckf kesvfenyyv iyssmlyrqq esgrawflgl
      181 nkegqamkgn rvkktkpaah flpkplevam yrepslhdvg etvpkpgvtp skstsasaim
      241 nggkpvnksk tt
//
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