FIBP_HUMAN
ID FIBP_HUMAN Reviewed; 364 AA.
AC O43427; A8K0J7; Q27Q85; Q6IBQ3; Q9HD65;
DT 27-APR-2001, integrated into UniProtKB/Swiss-Prot.
DT 27-APR-2001, sequence version 3.
DT 03-AUG-2022, entry version 180.
DE RecName: Full=Acidic fibroblast growth factor intracellular-binding protein;
DE Short=aFGF intracellular-binding protein;
DE AltName: Full=FGF-1 intracellular-binding protein;
GN Name=FIBP;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT), AND FUNCTION.
RC TISSUE=Mammary cancer;
RX PubMed=9806903; DOI=10.1042/bj3360213;
RA Kolpakova E., Wiedlocha A., Stenmark H., Klingenberg O., Falnes P.O.,
RA Olsnes S.;
RT "Cloning of an intracellular protein that binds selectively to mitogenic
RT acidic fibroblast growth factor.";
RL Biochem. J. 336:213-222(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT).
RC TISSUE=Heart, Mammary cancer, and Umbilical vein endothelial cell;
RA Imamura T., Loupatov A.;
RL Submitted (JUL-1999) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM LONG).
RX PubMed=11104667; DOI=10.1042/bj3520629;
RA Kolpakova E., Frengen E., Stokke T., Olsnes S.;
RT "Organization, chromosomal localization and promoter analysis of the gene
RT encoding human acidic fibroblast growth factor intracellular binding
RT protein.";
RL Biochem. J. 352:629-635(2000).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM SHORT).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM SHORT).
RC TISSUE=Cerebellum;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS VAL-351 AND ARG-359.
RG NIEHS SNPs program;
RL Submitted (FEB-2006) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM SHORT).
RC TISSUE=Brain, and Placenta;
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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [9]
RP INTERACTION WITH FGF1.
RX PubMed=11964394; DOI=10.1074/jbc.m112193200;
RA Skjerpen C.S., Wesche J., Olsnes S.;
RT "Identification of ribosome-binding protein p34 as an intracellular protein
RT that binds acidic fibroblast growth factor.";
RL J. Biol. Chem. 277:23864-23871(2002).
RN [10]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT THR-2, CLEAVAGE OF INITIATOR
RP METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY
RP [LARGE SCALE ANALYSIS].
RX PubMed=19369195; DOI=10.1074/mcp.m800588-mcp200;
RA Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G.,
RA Mann M., Daub H.;
RT "Large-scale proteomics analysis of the human kinome.";
RL Mol. Cell. Proteomics 8:1751-1764(2009).
RN [11]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [12]
RP INVOLVEMENT IN TROFAS.
RX PubMed=26660953; DOI=10.1111/cge.12704;
RA Thauvin-Robinet C., Duplomb-Jego L., Limoge F., Picot D., Masurel A.,
RA Terriat B., Champilou C., Minot D., St-Onge J., Kuentz P., Duffourd Y.,
RA Thevenon J., Riviere J.B., Faivre L.;
RT "Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with
RT overgrowth, macrocephaly, retinal coloboma and learning disabilities.";
RL Clin. Genet. 89:E1-E4(2016).
RN [13]
RP VARIANT TROFAS HIS-59 DELINS LEU-ASN, CHARACTERIZATION OF VARIANT TROFAS
RP HIS-59 DELINS LEU-ASN, AND INVOLVEMENT IN TROFAS.
RX PubMed=27183861; DOI=10.1002/ajmg.a.37741;
RA Akawi N., Ben-Salem S., Lahti L., Partanen J., Ali B.R., Al-Gazali L.;
RT "A recessive syndrome of intellectual disability, moderate overgrowth, and
RT renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP
RT gene.";
RL Am. J. Med. Genet. A 170:2111-2118(2016).
CC -!- FUNCTION: May be involved in mitogenic function of FGF1. May mediate
CC with IER2 FGF-signaling in the establishment of laterality in the
CC embryo (By similarity). {ECO:0000250|UniProtKB:Q6T938,
CC ECO:0000269|PubMed:9806903}.
CC -!- SUBUNIT: Binds to internalized FGF1; this interaction is increased in
CC the presence of CSNKB, suggesting a possible cooperative interaction
CC between CSNKB and FIBP in binding to FGF1.
CC -!- SUBCELLULAR LOCATION: Nucleus. Endomembrane system; Peripheral membrane
CC protein. Note=Also associated with cytoplasmic membranes, particularly
CC of mitochondria.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=Long;
CC IsoId=O43427-1; Sequence=Displayed;
CC Name=Short;
CC IsoId=O43427-2; Sequence=VSP_004250;
CC -!- TISSUE SPECIFICITY: Highly expressed in heart, skeletal muscle and
CC pancreas. Expressed at lower levels in brain. Also found in placenta,
CC liver and kidney.
CC -!- DISEASE: Thauvin-Robinet-Faivre syndrome (TROFAS) [MIM:617107]: A rare
CC autosomal recessive syndrome characterized by generalized overgrowth,
CC developmental delay, learning disabilities, and variable congenital
CC abnormalities including congenital heart defects, renal dysplasia, and
CC skeletal defects. {ECO:0000269|PubMed:26660953,
CC ECO:0000269|PubMed:27183861}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- WEB RESOURCE: Name=NIEHS-SNPs;
CC URL="http://egp.gs.washington.edu/data/fibp/";
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AF010187; AAC97140.2; -; mRNA.
DR EMBL; AF171944; AAD51694.1; -; mRNA.
DR EMBL; AF171945; AAD51695.1; -; mRNA.
DR EMBL; AF171946; AAD51696.1; -; mRNA.
DR EMBL; AF250391; AAG01396.1; -; mRNA.
DR EMBL; AF250392; AAG01397.1; -; Genomic_DNA.
DR EMBL; CR456749; CAG33030.1; -; mRNA.
DR EMBL; AK289562; BAF82251.1; -; mRNA.
DR EMBL; DQ388430; ABD48957.1; -; Genomic_DNA.
DR EMBL; CH471076; EAW74465.1; -; Genomic_DNA.
DR EMBL; CH471076; EAW74466.1; -; Genomic_DNA.
DR EMBL; BC014388; AAH14388.1; -; mRNA.
DR EMBL; BC017448; AAH17448.1; -; mRNA.
DR CCDS; CCDS8118.1; -. [O43427-2]
DR CCDS; CCDS8119.1; -. [O43427-1]
DR RefSeq; NP_004205.2; NM_004214.4. [O43427-2]
DR RefSeq; NP_942600.1; NM_198897.1. [O43427-1]
DR AlphaFoldDB; O43427; -.
DR BioGRID; 114603; 57.
DR IntAct; O43427; 13.
DR MINT; O43427; -.
DR STRING; 9606.ENSP00000344572; -.
DR iPTMnet; O43427; -.
DR PhosphoSitePlus; O43427; -.
DR BioMuta; FIBP; -.
DR EPD; O43427; -.
DR jPOST; O43427; -.
DR MassIVE; O43427; -.
DR MaxQB; O43427; -.
DR PaxDb; O43427; -.
DR PeptideAtlas; O43427; -.
DR PRIDE; O43427; -.
DR ProteomicsDB; 48941; -. [O43427-1]
DR ProteomicsDB; 48942; -. [O43427-2]
DR Antibodypedia; 1859; 195 antibodies from 25 providers.
DR DNASU; 9158; -.
DR Ensembl; ENST00000338369.6; ENSP00000344572.2; ENSG00000172500.13. [O43427-1]
DR Ensembl; ENST00000357519.9; ENSP00000350124.5; ENSG00000172500.13. [O43427-2]
DR GeneID; 9158; -.
DR KEGG; hsa:9158; -.
DR MANE-Select; ENST00000357519.9; ENSP00000350124.5; NM_004214.5; NP_004205.2. [O43427-2]
DR UCSC; uc001ogd.4; human. [O43427-1]
DR CTD; 9158; -.
DR DisGeNET; 9158; -.
DR GeneCards; FIBP; -.
DR HGNC; HGNC:3705; FIBP.
DR HPA; ENSG00000172500; Low tissue specificity.
DR MalaCards; FIBP; -.
DR MIM; 608296; gene.
DR MIM; 617107; phenotype.
DR neXtProt; NX_O43427; -.
DR OpenTargets; ENSG00000172500; -.
DR Orphanet; 500095; Tall stature-intellectual disability-renal anomalies syndrome.
DR PharmGKB; PA28145; -.
DR VEuPathDB; HostDB:ENSG00000172500; -.
DR eggNOG; ENOG502QPQ2; Eukaryota.
DR GeneTree; ENSGT00390000015815; -.
DR HOGENOM; CLU_039181_0_0_1; -.
DR InParanoid; O43427; -.
DR OMA; FEDFAYC; -.
DR OrthoDB; 1132199at2759; -.
DR PhylomeDB; O43427; -.
DR TreeFam; TF323763; -.
DR PathwayCommons; O43427; -.
DR SignaLink; O43427; -.
DR BioGRID-ORCS; 9158; 36 hits in 1093 CRISPR screens.
DR ChiTaRS; FIBP; human.
DR GeneWiki; FIBP; -.
DR GenomeRNAi; 9158; -.
DR Pharos; O43427; Tbio.
DR PRO; PR:O43427; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; O43427; protein.
DR Bgee; ENSG00000172500; Expressed in stromal cell of endometrium and 204 other tissues.
DR ExpressionAtlas; O43427; baseline and differential.
DR Genevisible; O43427; HS.
DR GO; GO:0012505; C:endomembrane system; IEA:UniProtKB-SubCell.
DR GO; GO:0016020; C:membrane; IDA:MGI.
DR GO; GO:0005739; C:mitochondrion; TAS:ProtInc.
DR GO; GO:0016607; C:nuclear speck; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:MGI.
DR GO; GO:0017134; F:fibroblast growth factor binding; IPI:MGI.
DR GO; GO:0008543; P:fibroblast growth factor receptor signaling pathway; TAS:ProtInc.
DR GO; GO:0070527; P:platelet aggregation; HMP:UniProtKB.
DR InterPro; IPR008614; FIBP.
DR PANTHER; PTHR13223; PTHR13223; 1.
DR Pfam; PF05427; FIBP; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Disease variant; Membrane; Nucleus;
KW Reference proteome.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0007744|PubMed:19369195"
FT CHAIN 2..364
FT /note="Acidic fibroblast growth factor intracellular-
FT binding protein"
FT /id="PRO_0000087237"
FT MOD_RES 2
FT /note="N-acetylthreonine"
FT /evidence="ECO:0007744|PubMed:19369195"
FT VAR_SEQ 216..222
FT /note="Missing (in isoform Short)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:9806903,
FT ECO:0000303|Ref.2, ECO:0000303|Ref.4"
FT /id="VSP_004250"
FT VARIANT 59
FT /note="H -> LN (in TROFAS)"
FT /evidence="ECO:0000269|PubMed:27183861"
FT /id="VAR_077160"
FT VARIANT 152
FT /note="R -> W (in dbSNP:rs11559154)"
FT /id="VAR_050991"
FT VARIANT 351
FT /note="M -> V (in dbSNP:rs2231893)"
FT /evidence="ECO:0000269|Ref.6"
FT /id="VAR_050992"
FT VARIANT 359
FT /note="L -> R (in dbSNP:rs36080962)"
FT /evidence="ECO:0000269|Ref.6"
FT /id="VAR_060711"
SQ SEQUENCE 364 AA; 41878 MW; 7E9A05908760FF45 CRC64;
MTSELDIFVG NTTLIDEDVY RLWLDGYSVT DAVALRVRSG ILEQTGATAA VLQSDTMDHY
RTFHMLERLL HAPPKLLHQL IFQIPPSRQA LLIERYYAFD EAFVREVLGK KLSKGTKKDL
DDISTKTGIT LKSCRRQFDN FKRVFKVVEE MRGSLVDNIQ QHFLLSDRLA RDYAAIVFFA
NNRFETGKKK LQYLSFGDFA FCAELMIQNW TLGAVGEAPT DPDSQMDDMD MDLDKEFLQD
LKELKVLVAD KDLLDLHKSL VCTALRGKLG VFSEMEANFK NLSRGLVNVA AKLTHNKDVR
DLFVDLVEKF VEPCRSDHWP LSDVRFFLNQ YSASVHSLDG FRHQALWDRY MGTLRGCLLR
LYHD
