ID FGF13_HUMAN Reviewed; 245 AA. AC Q92913; O95830; DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot. DT 01-FEB-1997, sequence version 1. DT 03-NOV-2009, entry version 87. DE RecName: Full=Fibroblast growth factor 13; DE Short=FGF-13; DE AltName: Full=Fibroblast growth factor homologous factor 2; DE Short=FHF-2; GN Name=FGF13; Synonyms=FHF2; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1A). RC TISSUE=Retina; RX MEDLINE=96382556; 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 RT FGF family implicated in nervous system development."; RL Proc. Natl. Acad. Sci. U.S.A. 93:9850-9857(1996). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1A AND 1B). RC TISSUE=Brain; RX MEDLINE=99168751; PubMed=10071193; DOI=10.1007/s004390050910; RA Gecz J., Baker E., Donnelly A., Ming J.E., McDonnald-McGinn D.M., RA Spinner N.B., Zackai E.H., Sutherland G.R., Mulley J.C.; RT "Fibroblast growth factor homologous factor 2 (FHF2): gene structure, RT expression and mapping to the Borjeson-Forssman-Lehmann syndrome RT region in Xq26 delineated by a duplication breakpoint in a BFLS-like RT patient."; RL Hum. Genet. 104:56-63(1999). RN [3] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT GLN-197. RG NIEHS SNPs program; RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases. RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1A). RC TISSUE=Lung, and Skin; 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 RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). CC -!- FUNCTION: Probably involved in nervous system development and CC function. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1A; CC IsoId=Q92913-1; Sequence=Displayed; CC Name=1B; CC IsoId=Q92913-2; Sequence=VSP_001529; CC -!- TISSUE SPECIFICITY: Nervous system. CC -!- SIMILARITY: Belongs to the heparin-binding growth factors family. CC -!- WEB RESOURCE: Name=NIEHS-SNPs; CC URL="http://egp.gs.washington.edu/data/fgf13/"; CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; U66198; AAB18914.1; -; mRNA. DR EMBL; AF100143; AAD16400.1; -; mRNA. DR EMBL; AF100144; AAD16401.1; -; mRNA. DR EMBL; AY672645; AAT70720.1; -; Genomic_DNA. DR EMBL; BC012347; AAH12347.1; -; mRNA. DR EMBL; BC034340; AAH34340.1; -; mRNA. DR IPI; IPI00024251; -. DR IPI; IPI00066574; -. DR RefSeq; NP_001132970.1; -. DR RefSeq; NP_001132972.1; -. DR RefSeq; NP_001132973.1; -. DR RefSeq; NP_001132974.1; -. DR RefSeq; NP_004105.1; -. DR RefSeq; NP_378668.1; -. DR UniGene; Hs.6540; -. DR PDB; 3HBW; X-ray; 1.90 A; A/B=53-245. DR PDBsum; 3HBW; -. DR SMR; Q92913; 64-201. DR IntAct; Q92913; 1. DR STRING; Q92913; -. DR PRIDE; Q92913; -. DR Ensembl; ENST00000305414; ENSP00000303391; ENSG00000129682; Homo sapiens. DR Ensembl; ENST00000315930; ENSP00000322390; ENSG00000129682; Homo sapiens. DR Ensembl; ENST00000370603; ENSP00000359635; ENSG00000129682; Homo sapiens. DR Ensembl; ENST00000421460; ENSP00000388688; ENSG00000129682; Homo sapiens. DR Ensembl; ENST00000436198; ENSP00000396198; ENSG00000129682; Homo sapiens. DR Ensembl; ENST00000441825; ENSP00000409276; ENSG00000129682; Homo sapiens. DR Ensembl; ENST00000448673; ENSP00000411999; ENSG00000129682; Homo sapiens. DR Ensembl; ENST00000455663; ENSP00000406916; ENSG00000129682; Homo sapiens. DR GeneID; 2258; -. DR KEGG; hsa:2258; -. DR UCSC; uc004fam.1; human. DR UCSC; uc004fan.1; human. DR CTD; 2258; -. DR GeneCards; GC0XM137541; -. DR H-InvDB; HIX0017088; -. DR HGNC; HGNC:3670; FGF13. DR HPA; HPA002809; -. DR MIM; 300070; gene. DR PharmGKB; PA28109; -. DR HOVERGEN; Q92913; -. DR OMA; VCELAVP; -. DR NextBio; 9149; -. DR ArrayExpress; Q92913; -. DR Bgee; Q92913; -. DR CleanEx; HS_FGF13; -. DR Genevestigator; Q92913; -. DR GermOnline; ENSG00000129682; Homo sapiens. DR GO; GO:0005737; C:cytoplasm; IPI:MGI. DR GO; GO:0005634; C:nucleus; IDA:MGI. DR GO; GO:0008083; F:growth factor activity; TAS:ProtInc. DR GO; GO:0030295; F:protein kinase activator activity; IGI:MGI. DR GO; GO:0007267; P:cell-cell signaling; TAS:ProtInc. DR GO; GO:0000165; P:MAPKKK cascade; IDA:MGI. DR GO; GO:0007399; P:nervous system development; TAS:ProtInc. DR InterPro; IPR002209; GF_heparin_bd. DR InterPro; IPR002348; IL1_HBGF. DR PANTHER; PTHR11486; IL1_HBGF; 1. DR Pfam; PF00167; FGF; 1. DR PRINTS; PR00263; HBGFFGF. DR PRINTS; PR00262; IL1HBGF. DR ProDom; PD000831; IL1_HBGF; 1. DR SMART; SM00442; FGF; 1. DR PROSITE; PS00247; HBGF_FGF; 1. PE 1: Evidence at protein level; KW 3D-structure; Alternative splicing; Complete proteome; Growth factor; KW Polymorphism. FT CHAIN 1 245 Fibroblast growth factor 13. FT /FTId=PRO_0000147607. FT VAR_SEQ 1 62 MAAAIASSLIRQKRQAREREKSNACKCVSSPSKGKTSCDKN FT KLNVFSRVKLFGSKKRRRRRP -> MALLRKSYS (in FT isoform 1B). FT /FTId=VSP_001529. FT VARIANT 197 197 K -> Q. FT /FTId=VAR_020945. FT STRAND 70 75 FT HELIX 98 100 FT STRAND 102 106 FT STRAND 111 115 FT STRAND 122 125 FT STRAND 131 137 FT HELIX 139 141 FT STRAND 142 148 FT TURN 149 151 FT STRAND 152 159 FT HELIX 190 192 FT STRAND 194 200 SQ SEQUENCE 245 AA; 27564 MW; 30FB62C6B2669F29 CRC64; MAAAIASSLI RQKRQARERE KSNACKCVSS PSKGKTSCDK NKLNVFSRVK LFGSKKRRRR RPEPQLKGIV TKLYSRQGYH LQLQADGTID GTKDEDSTYT LFNLIPVGLR VVAIQGVQTK LYLAMNSEGY LYTSELFTPE CKFKESVFEN YYVTYSSMIY RQQQSGRGWY LGLNKEGEIM KGNHVKKNKP AAHFLPKPLK VAMYKEPSLH DLTEFSRSGS GTPTKSRSVS GVLNGGKSMS HNEST //