FGFR1

GENE INFORMATION

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Gene name

FGFR1 (HGNC Symbol)

Synonyms

BFGFR, CD331, CEK, FLG, FLT2, H2, H3, H4, H5, KAL2, N-SAM

Description

fibroblast growth factor receptor 1 (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]

Chromosome

8 (Chromosome progress)

Cytoband

p11.22

Chromosome location (bp)

38268656 - 38326352

Ensembl

ENSG00000077782 (version 73.37)

Entrez gene

2260

UniProt

P11362 (UniProt - Evidence at protein level)

neXtProt

NX_P11362

Antibodypedia

FGFR1 antibodies
 

PROTEIN VIEW

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 « 
 
FGFR1-001
 
FGFR1-002
 
FGFR1-003
 
FGFR1-004
 
FGFR1-008
 
FGFR1-009
 
FGFR1-010
 
FGFR1-011
 
FGFR1-012
 
FGFR1-015
 
FGFR1-016
 
FGFR1-019
 
FGFR1-020
 
FGFR1-027
 
FGFR1-028
 
FGFR1-036
 
FGFR1-037
 
FGFR1-038
 
FGFR1-039
 
FGFR1-201
 
FGFR1-202
 
FGFR1-203
 
 » 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

FGFR1-001 ENSP00000380280
ENST00000397091
P11362
Show all »
Show » Show » 820 91.6 Yes 1
FGFR1-002 ENSP00000432972
ENST00000532791
P11362
Show all »
Show » Show » 820 91.7 Yes 1
FGFR1-003 ENSP00000337247
ENST00000335922
P11362
Show all »
Show » Show » 812 90.6 No 1
FGFR1-004 ENSP00000348537
ENST00000356207
P11362
Show all »
Show » Show » 733 82.2 Yes 1
FGFR1-008 ENSP00000327229
ENST00000326324
P11362
Show all »
Show » Show » 731 81.9 Yes 1
FGFR1-009 ENSP00000433163
ENST00000484370
P11362
Show all »
Show » Show » 150 16.5 Yes 0
FGFR1-010 ENSP00000435254
ENST00000487647
E9PKX3
Show all »
Show » 61 6.8 Yes 0
FGFR1-011 ENSP00000380292
ENST00000397103
E7EU09
Show all »
Show » Show » 733 82 Yes 1
FGFR1-012 ENSP00000380302
ENST00000397113
P11362
Show all »
Show » Show » 820 91.6 Yes 1
FGFR1-015 ENSP00000400708
ENST00000413133
C9J205
Show all »
Show » Show » 107 11.9 Yes 0
FGFR1-016 ENSP00000392645
ENST00000434187
C9J1L5
Show all »
Show » 55 6.2 Yes 0
FGFR1-019 ENSP00000398318
ENST00000440174
Show » 1 0.1 No 0
FGFR1-020 ENSP00000380297
ENST00000397108
P11362
Show all »
Show » Show » 820 91.6 Yes 1
FGFR1-027 ENSP00000434473
ENST00000530568
E9PQ40
Show all »
Show » 85 9.5 Yes 0
FGFR1-028 ENSP00000434869
ENST00000533668
E9PN14
Show all »
Show » Show » 139 15.7 No 0
FGFR1-036 ENSP00000434712
ENST00000525001
E9PNM3
Show all »
Show » Show » 298 33.3 Yes 0
FGFR1-037 ENSP00000435283
ENST00000529552
E9PKV7
Show all »
Show » Show » 142 16 Yes 0
FGFR1-038 ENSP00000433569
ENST00000526742
E9PKF2
Show all »
Show » Show » 145 16.4 Yes 0
FGFR1-039 ENSP00000434800
ENST00000531196
H0YE20
Show all »
Show » Show » 134 15.2 No 0
FGFR1-201 ENSP00000340636
ENST00000341462
J3KNT4
Show all »
Show » Show » 822 91.8 Yes 1
FGFR1-202 ENSP00000393312
ENST00000425967
P11362
Show all »
Show » Show » 853 95.3 No 1
FGFR1-203 ENSP00000400162
ENST00000447712
P11362
Show all »
Show » Show » 822 91.9 Yes 1