Reviewed, UniProtKB/Swiss-Prot Q92913 (FGF13_HUMAN)

Names and origin

Protein names

Recommended name:
    Fibroblast growth factor 13
      Short name=FGF-13
Alternative name(s):
    Fibroblast growth factor homologous factor 2
      Short name=FHF-2

Gene names

Name:	FGF13
Synonyms:	FHF2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	245 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	Probably involved in nervous system development and function.
Tissue specificity	Nervous system.
Sequence similarities	Belongs to the heparin-binding growth factors family.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Molecular function	Growth factor
Gene Ontology (GO)
Biological process	MAPKKK cascade Inferred from direct assay. Source: MGI cell-cell signaling Ref.1 Traceable author statement. Source: ProtInc nervous system development Ref.1 Traceable author statement. Source: ProtInc
Cellular component	cytoplasm Inferred from physical interaction. Source: MGI nucleus Ref.1 Inferred from direct assay. Source: MGI
Molecular function	growth factor activity Ref.1 Traceable author statement. Source: ProtInc protein kinase activator activity Inferred from genetic interaction. Source: MGI
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1A (identifier: Q92913-1)

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.

Isoform 1B (identifier: Q92913-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-62: MAAAIASSLIRQKRQAREREKSNACKCVSSPSKGKTSCDKNKLNVFSRVKLFGSKKRRRRRP → MALLRKSYS

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 245	245	Fibroblast growth factor 13		PRO_0000147607
Natural variations
	Alternative sequence	1 – 62	62	MAAAI…RRRRP → MALLRKSYS in isoform 1B.		VSP_001529
	Natural variant	197	1	K → Q		VAR_020945

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1A [UniParc]. Last modified February 1, 1997. Version 1. Checksum: 30FB62C6B2669F29	FASTA	245	27,564
	10 20 30 40 50 60 MAAAIASSLI RQKRQARERE KSNACKCVSS PSKGKTSCDK NKLNVFSRVK LFGSKKRRRR 70 80 90 100 110 120 RPEPQLKGIV TKLYSRQGYH LQLQADGTID GTKDEDSTYT LFNLIPVGLR VVAIQGVQTK 130 140 150 160 170 180 LYLAMNSEGY LYTSELFTPE CKFKESVFEN YYVTYSSMIY RQQQSGRGWY LGLNKEGEIM 190 200 210 220 230 240 KGNHVKKNKP AAHFLPKPLK VAMYKEPSLH DLTEFSRSGS GTPTKSRSVS GVLNGGKSMS HNEST
	Isoform 1B [UniParc]. Checksum: 1C5B15BB67B2F232		192	21,581
	10 20 30 40 50 60 MALLRKSYSE PQLKGIVTKL YSRQGYHLQL QADGTIDGTK DEDSTYTLFN LIPVGLRVVA 70 80 90 100 110 120 IQGVQTKLYL AMNSEGYLYT SELFTPECKF KESVFENYYV TYSSMIYRQQ QSGRGWYLGL 130 140 150 160 170 180 NKEGEIMKGN HVKKNKPAAH FLPKPLKVAM YKEPSLHDLT EFSRSGSGTP TKSRSVSGVL 190 NGGKSMSHNE ST

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 8790420] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1A). Tissue: Retina.
[2]	"Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Borjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient." Gecz J., Baker E., Donnelly A., Ming J.E., McDonnald-McGinn D.M., Spinner N.B., Zackai E.H., Sutherland G.R., Mulley J.C. Hum. Genet. 104:56-63(1999) [PubMed: 10071193] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1A AND 1B). Tissue: Brain.
[3]	"NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu)." Livingston R.J., Rieder M.J., Chung M.-W., Ritchie T.K., Olson A.N., Nguyen C.P., Nguyen D.A., Poel C.L., Chambers S.W., Schackwitz W.S., Sherwood J.K., Sherwood A.M., Leithauser B.J., Nickerson D.A. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT GLN-197.
[4]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1A). Tissue: Lung and Skin.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	U66198 mRNA. Translation: AAB18914.1. AF100143 mRNA. Translation: AAD16400.1. AF100144 mRNA. Translation: AAD16401.1. AY672645 Genomic DNA. Translation: AAT70720.1. BC012347 mRNA. Translation: AAH12347.1. BC034340 mRNA. Translation: AAH34340.1.
RefSeq	NP_004105.1. NP_378668.1.
UniGene	Hs.6540
3D structure databases
HSSP	HSSP built from PDB template 1G82 based on UniProtKB P31371.
SMR	Q92913. Positions 64-201.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q92913.
PTM databases
PhosphoSite	Q92913.
Polymorphism databases
NIEHS-SNPs	Search...
Genome annotation databases
Ensembl	ENSG00000129682. Homo sapiens. [Contig view]
GeneID	2258.
KEGG	hsa:2258.
Organism-specific databases
H-InvDB	HIX0017088.
HGNC	HGNC:3670. FGF13.
HPA	HPA002809.
MIM	300070. gene.
PharmGKB	PA28109.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOVERGEN	Q92913.
Gene expression databases
ArrayExpress	Q92913.
CleanEx	HS_FGF13.
GermOnline	ENSG00000129682. Homo sapiens.
Family and domain databases
InterPro	IPR002209. GF_heparin_bd. IPR002348. IL1_HBGF. [Graphical view]
PANTHER	PTHR11486. IL1_HBGF. 1 hit.
Pfam	PF00167. FGF. 1 hit. [Graphical view]
PRINTS	PR00263. HBGFFGF. PR00262. IL1HBGF.
ProDom	PD000831. IL1_HBGF. 1 hit. [Graphical view] [Entries sharing at least one domain]
SMART	SM00442. FGF. 1 hit. [Graphical view]
PROSITE	PS00247. HBGF_FGF. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	9149.
SOURCE	Search...

Entry information

Entry name

FGF13_HUMAN

Accession

Primary (citable) accession number: Q92913
Secondary accession number(s): O95830

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	February 1, 1997
Last modified:	November 25, 2008
This is version 75 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)