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
//