FIBP
entrez
9158
canonical
uniprot
O43427
canonical
ensembl
ENSG00000172500
resolver
ensp
ENSP00000344572
resolver
ensp
ENSP00000350124
resolver
genesymbol
FIBP
resolver
hgnc
HGNC:3705
resolver
uniprot
A8K0J7
resolver
uniprot
Q27Q85
resolver
uniprot
Q6IBQ3
resolver
uniprot
Q9HD65
resolver
uniprot_entry
FIBP_HUMAN
resolver
uniprot_sec
A8K0J7
resolver
uniprot_sec
Q27Q85
resolver
uniprot_sec
Q6IBQ3
resolver
uniprot_sec
Q9HD65
resolver
amino_acid_sequence
MTSELDIFVGNTTLIDEDVYRLWLDGYSVTDAVALRVRSGILEQTGATAAVLQSDTMDHYRTFHMLERLLHAPPKLLHQLIFQIPPSRQALLIERYYAFDEAFVREVLGKKLSKGTKKDLDDISTKTGITLKSCRRQFDNFKRVFKVVEEMRGSLVDNIQQHFLLSDRLARDYAAIVFFANNRFETGKKKLQYLSFGDFAFCAELMIQNWTLGAVGEAPTDPDSQMDDMDMDLDKEFLQDLKELKVLVADKDLLDLHKSLVCTALRGKLGVFSEMEANFKNLSRGLVNVAAKLTHNKDVRDLFVDLVEKFVEPCRSDHWPLSDVRFFLNQYSASVHSLDGFRHQALWDRYMGTLRGCLLRLYHD
uniprot
proteins
disease_involvement
DISEASE: Thauvin-Robinet-Faivre syndrome (TROFAS) [MIM:617107]: A rare autosomal recessive syndrome characterized by generalized overgrowth, developmental delay, learning disabilities, and variable congenital abnormalities including congenital heart defects, renal dysplasia, and skeletal defects. {ECO:0000269|PubMed:26660953, ECO:0000269|PubMed:27183861}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May be involved in mitogenic function of FGF1. May mediate with IER2 FGF-signaling in the establishment of laterality in the embryo (By similarity). {ECO:0000250|UniProtKB:Q6T938, ECO:0000269|PubMed:9806903}.
uniprot
proteins
mass_dalton
41878
uniprot
proteins
pubmed
11104667
uniprot
proteins
pubmed
11964394
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
26660953
uniprot
proteins
pubmed
27183861
uniprot
proteins
pubmed
9806903
uniprot
proteins
sequence_length
364
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus. Endomembrane system; Peripheral membrane protein. Note=Also associated with cytoplasmic membranes, particularly of mitochondria.
uniprot
proteins