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UniProtKB/Swiss-Prot entry Q9GZV9


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name FGF23_HUMAN
Primary accession number Q9GZV9
Secondary accession number Q4V758
Integrated into Swiss-Prot on April 27, 2001
Sequence was last modified on March 1, 2001 (Sequence version 1)
Annotations were last modified on    July 22, 2008 (Entry version 88)
Name and origin of the protein
Protein name Fibroblast growth factor 23 [Precursor]
Synonyms FGF-23
Tumor-derived hypophosphatemia-inducing factor
Gene name
Name: FGF23
Synonyms: HYPF
ORFNames: UNQ3027/PRO9828
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1006/bbrc.2000.3696; PubMed=11032749 [NCBI, ExPASy, EBI, Israel, Japan]
Yamashita T., Yoshioka M., Itoh N.;
"Identification of a novel fibroblast growth factor, FGF-23, preferentially expressed in the ventrolateral thalamic nucleus of the brain.";
Biochem. Biophys. Res. Commun. 277:494-498(2000).
[2]
NUCLEOTIDE SEQUENCE [MRNA], VARIANTS ADHR GLN-176; GLN-179 AND TRP-179, AND VARIANT MET-239.
DOI=10.1038/81664; PubMed=11062477 [NCBI, ExPASy, EBI, Israel, Japan]
White K.E., Evans W.E., O'Riordan J.L.H., Speer M.C., Econs M.J., Lorenz-Depiereux B., Grabowski M., Meitinger T., Strom T.M.;
"Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.";
Nat. Genet. 26:345-348(2000).
[3]
NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1073/pnas.101545198; PubMed=11344269 [NCBI, ExPASy, EBI, Israel, Japan]
Shimada T., Mizutani S., Muto T., Yoneya T., Hino R., Takeda S., Takeuchi Y., Fujita T., Fukumoto S., Yamashita T.;
"Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia.";
Proc. Natl. Acad. Sci. U.S.A. 98:6500-6505(2001).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
DOI=10.1101/gr.1293003; PubMed=12975309 [NCBI, ExPASy, EBI, Israel, Japan]
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.";
Genome Res. 13:2265-2270(2003).
[5]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS SER-195 AND MET-239.
Livingston R.J., Rieder M.J., Chung M.-W., Ritchie T.K., Olson A.N., Nguyen C.P., Nguyen D.A., Poel C.L., Robertson P.D., Schackwitz W.S., Sherwood J.K., Sherwood A.M., Leithauser B.J., Nickerson D.A.;
"NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu).";
Submitted (MAR-2004) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[7]
PROTEIN SEQUENCE OF 25-39.
DOI=10.1110/ps.04682504; PubMed=15340161 [NCBI, ExPASy, EBI, Israel, Japan]
Zhang Z., Henzel W.J.;
"Signal peptide prediction based on analysis of experimentally verified cleavage sites.";
Protein Sci. 13:2819-2824(2004).
[8]
VARIANT HFTC GLY-71.
DOI=10.1093/hmg/ddi034; PubMed=15590700 [NCBI, ExPASy, EBI, Israel, Japan]
Benet-Pages A., Orlik P., Strom T.M., Lorenz-Depiereux B.;
"An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.";
Hum. Mol. Genet. 14:385-390(2005).
Comments
  • SUBCELLULAR LOCATION: Secreted.
  • PTM: After secretion it is processed into a N-terminal fragment and a C-terminal fragment.
  • DISEASE: Defects in FGF23 are the cause of autosomal dominant hypophosphataemic rickets (ADHR) [MIM:193100]. ADHR is characterized by low serum phosphorus concentrations, rickets, osteomalacia, leg deformities, short stature, bone pain and dental abscesses.
  • DISEASE: Defects in FGF23 are a cause of hyperphosphatemic familial tumoral calcinosis (HFTC) [MIM:211900]. HFTC is a severe autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues.
  • SIMILARITY: Belongs to the heparin-binding growth factors family.
  • WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=FGF23";.
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AB037973; BAB13477.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF263537; AAG09917.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AB047858; BAB55889.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AY358323; AAQ88689.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AY566236; AAS59157.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC069333; AAH69333.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC096713; AAH96713.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC098147; AAH98147.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC098252; AAH98252.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
RefSeq NP_065689.1; -.
UniGene Hs.287370
3D structure databases
PDB
2P39; X-ray; 1.50 A; A=25-179.[ExPASy / RCSB / EBI]
PDBsum 2P39; -.
ModBase Q9GZV9.
Enzyme and pathway databases
Reactome REACT_9470; Signaling by FGFR.
Polymorphism databases
NIEHS-SNPs FGF23.
Organism-specific databases
H-InvDB HIX0036668; -.
HGNC HGNC:3680; FGF23.
GenAtlas FGF23.
MIM 193100; phenotype. [NCBI / EBI]
211900; phenotype. [NCBI / EBI]
605380; gene. [NCBI / EBI]
Orphanet 53715; Calcinosis, tumoral.
437; Vitamin D resistant rickets.
PharmGKB PA28119; -.
GeneCards Q9GZV9.
Gene expression databases
ArrayExpress Q9GZV9; -.
CleanEx HS_FGF23; -.
GermOnline ENSG00000118972; Homo sapiens.
Ontologies
GO
GO:0005615; Cellular component: extracellular space (non-traceable author statement from UniProtKB).
GO:0030154; Biological process: cell differentiation (non-traceable author statement from UniProtKB).
GO:0008543; Biological process: fibroblast growth factor receptor signaling pathway (inferred from experiment from Reactome).
QuickGo view.
Family and domain databases
InterPro IPR002348; IL1_HBGF.
Graphical view of domain structure.
PANTHER PTHR11486; IL1_HBGF; 1.
Pfam PF00167; FGF; 1.
Pfam graphical view of domain structure.
PRINTS PR00262; IL1HBGF.
ProDom PD000831; IL1_HBGF; 1.
[Domain structure / List of seq. sharing at least 1 domain]
SMART SM00442; FGF; 1.
SMART graphical view of domain structure.
PROSITE PS00247; HBGF_FGF; FALSE_NEG.
BLOCKS Q9GZV9.
Genome annotation databases
Ensembl ENSG00000118972; Homo sapiens. [Contig view]
GeneID 8074; -.
KEGG hsa:8074; -.
NMPDR fig|9606.3.peg.6984; -.
Phylogenomic databases
HOGENOM Q9GZV9; -.
HOVERGEN Q9GZV9; -.
Other
SOURCE FGF23; Homo sapiens.
ProtoNet Q9GZV9.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
3D-structure; Direct protein sequencing; Disease mutation; Growth factor; Polymorphism; Secreted; Signal.
Features
SEVIEWER logo Feature table viewer
KeyFrom   To Length Description FTId
SIGNAL   1    24  24      
CHAIN   25   251  227     Fibroblast growth factor 23. PRO_0000008998
VARIANT   71    71  1     S -> G (in HFTC; only the C-terminal fragment is secreted, whereas the intact protein is retained in the Golgi complex). VAR_023831 
VARIANT   176   176  1     R -> Q (in ADHR). VAR_010717 
VARIANT   179   179  1     R -> Q (in ADHR). VAR_010719 
VARIANT   179   179  1     R -> W (in ADHR). VAR_010718 
VARIANT   195   195  1     P -> S (in dbSNP:rs13312793 [NCBI]). VAR_018887 
VARIANT   239   239  1     T -> M (in dbSNP:rs7955866 [NCBI]). VAR_010720 
STRAND   40    43  4      
STRAND   47    49  3      
STRAND   52    55  4      
STRAND   61    66  6      
TURN   69    71  3      
STRAND   73    77  5      
HELIX   79    81  3      
STRAND   82    87  6      
TURN   88    91  4      
STRAND   92    96  5      
STRAND   102   107  6      
TURN   110   112  3      
STRAND   115   119  5      
STRAND   125   128  4      
TURN   130   132  3      
STRAND   138   140  3      
HELIX   153   155  3      
STRAND   157   161  5      
HELIX   166   168  3      
Sequence information
Length: 251 AA [This is the length of the unprocessed precursor] Molecular weight: 27954 Da [This is the MW of the unprocessed precursor] CRC64: 6093BD0CC50C2489 [This is a checksum on the sequence]
        10         20         30         40         50         60 
MLGARLRLWV CALCSVCSMS VLRAYPNASP LLGSSWGGLI HLYTATARNS YHLQIHKNGH 

        70         80         90        100        110        120 
VDGAPHQTIY SALMIRSEDA GFVVITGVMS RRYLCMDFRG NIFGSHYFDP ENCRFQHQTL 

       130        140        150        160        170        180 
ENGYDVYHSP QYHFLVSLGR AKRAFLPGMN PPPYSQFLSR RNEIPLIHFN TPIPRRHTRS 

       190        200        210        220        230        240 
AEDDSERDPL NVLKPRARMT PAPASCSQEL PSAEDNSPMA SDPLGVVRGG RVNTHAGGTG 

       250 
PEGCRPFAKF I 

Q9GZV9 in FASTA format

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