true
2002-09-19
2024-03-27
198
FKB10_HUMAN
The human FK506-binding protein repertoire.
Rulten S.
Kinloch R.A.
Robinson C.
Gettins L.
Kay J.E.
2001-01
EMBL/GenBank/DDBJ
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
Brain
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T.
Suzuki Y.
Nishikawa T.
Otsuki T.
Sugiyama T.
Irie R.
Wakamatsu A.
Hayashi K.
Sato H.
Nagai K.
Kimura K.
Makita H.
Sekine M.
Obayashi M.
Nishi T.
Shibahara T.
Tanaka T.
Ishii S.
Yamamoto J.
Saito K.
Kawai Y.
Isono Y.
Nakamura Y.
Nagahari K.
Murakami K.
Yasuda T.
Iwayanagi T.
Wagatsuma M.
Shiratori A.
Sudo H.
Hosoiri T.
Kaku Y.
Kodaira H.
Kondo H.
Sugawara M.
Takahashi M.
Kanda K.
Yokoi T.
Furuya T.
Kikkawa E.
Omura Y.
Abe K.
Kamihara K.
Katsuta N.
Sato K.
Tanikawa M.
Yamazaki M.
Ninomiya K.
Ishibashi T.
Yamashita H.
Murakawa K.
Fujimori K.
Tanai H.
Kimata M.
Watanabe M.
Hiraoka S.
Chiba Y.
Ishida S.
Ono Y.
Takiguchi S.
Watanabe S.
Yosida M.
Hotuta T.
Kusano J.
Kanehori K.
Takahashi-Fujii A.
Hara H.
Tanase T.-O.
Nomura Y.
Togiya S.
Komai F.
Hara R.
Takeuchi K.
Arita M.
Imose N.
Musashino K.
Yuuki H.
Oshima A.
Sasaki N.
Aotsuka S.
Yoshikawa Y.
Matsunawa H.
Ichihara T.
Shiohata N.
Sano S.
Moriya S.
Momiyama H.
Satoh N.
Takami S.
Terashima Y.
Suzuki O.
Nakagawa S.
Senoh A.
Mizoguchi H.
Goto Y.
Shimizu F.
Wakebe H.
Hishigaki H.
Watanabe T.
Sugiyama A.
Takemoto M.
Kawakami B.
Yamazaki M.'
Watanabe K.
Kumagai A.
Itakura S.
Fukuzumi Y.
Fujimori Y.
Komiyama M.
Tashiro H.
Tanigami A.
Fujiwara T.
Ono T.
Yamada K.
Fujii Y.
Ozaki K.
Hirao M.
Ohmori Y.
Kawabata A.
Hikiji T.
Kobatake N.
Inagaki H.
Ikema Y.
Okamoto S.
Okitani R.
Kawakami T.
Noguchi S.
Itoh T.
Shigeta K.
Senba T.
Matsumura K.
Nakajima Y.
Mizuno T.
Morinaga M.
Sasaki M.
Togashi T.
Oyama M.
Hata H.
Watanabe M.'
Komatsu T.
Mizushima-Sugano J.
Satoh T.
Shirai Y.
Takahashi Y.
Nakagawa K.
Okumura K.
Nagase T.
Nomura N.
Kikuchi H.
Masuho Y.
Yamashita R.
Nakai K.
Yada T.
Nakamura Y.'
Ohara O.
Isogai T.
Sugano S.
doi:10.1038/ng1285
2004
Nat. Genet.
36
40-45
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2)
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 82-582 (ISOFORM 1)
Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
Otsuki T.
Ota T.
Nishikawa T.
Hayashi K.
Suzuki Y.
Yamamoto J.
Wakamatsu A.
Kimura K.
Sakamoto K.
Hatano N.
Kawai Y.
Ishii S.
Saito K.
Kojima S.
Sugiyama T.
Ono T.
Okano K.
Yoshikawa Y.
Aotsuka S.
Sasaki N.
Hattori A.
Okumura K.
Nagai K.
Sugano S.
Isogai T.
doi:10.1093/dnares/12.2.117
2005
DNA Res.
12
117-126
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
Teratocarcinoma
The full-ORF clone resource of the German cDNA consortium.
Bechtel S.
Rosenfelder H.
Duda A.
Schmidt C.P.
Ernst U.
Wellenreuther R.
Mehrle A.
Schuster C.
Bahr A.
Bloecker H.
Heubner D.
Hoerlein A.
Michel G.
Wedler H.
Koehrer K.
Ottenwaelder B.
Poustka A.
Wiemann S.
Schupp I.
doi:10.1186/1471-2164-8-399
2007
BMC Genomics
8
399
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
Endometrial tumor
Uterus
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
Zody M.C.
Garber M.
Adams D.J.
Sharpe T.
Harrow J.
Lupski J.R.
Nicholson C.
Searle S.M.
Wilming L.
Young S.K.
Abouelleil A.
Allen N.R.
Bi W.
Bloom T.
Borowsky M.L.
Bugalter B.E.
Butler J.
Chang J.L.
Chen C.-K.
Cook A.
Corum B.
Cuomo C.A.
de Jong P.J.
DeCaprio D.
Dewar K.
FitzGerald M.
Gilbert J.
Gibson R.
Gnerre S.
Goldstein S.
Grafham D.V.
Grocock R.
Hafez N.
Hagopian D.S.
Hart E.
Norman C.H.
Humphray S.
Jaffe D.B.
Jones M.
Kamal M.
Khodiyar V.K.
LaButti K.
Laird G.
Lehoczky J.
Liu X.
Lokyitsang T.
Loveland J.
Lui A.
Macdonald P.
Major J.E.
Matthews L.
Mauceli E.
McCarroll S.A.
Mihalev A.H.
Mudge J.
Nguyen C.
Nicol R.
O'Leary S.B.
Osoegawa K.
Schwartz D.C.
Shaw-Smith C.
Stankiewicz P.
Steward C.
Swarbreck D.
Venkataraman V.
Whittaker C.A.
Yang X.
Zimmer A.R.
Bradley A.
Hubbard T.
Birren B.W.
Rogers J.
Lander E.S.
Nusbaum C.
doi:10.1038/nature04689
2006
Nature
440
1045-1049
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team
doi:10.1101/gr.2596504
2004
Genome Res.
14
2121-2127
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.
Zhang H.
Li X.-J.
Martin D.B.
Aebersold R.
doi:10.1038/nbt827
2003
Nat. Biotechnol.
21
660-666
GLYCOSYLATION AT ASN-182 AND ASN-407
Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
Chen R.
Jiang X.
Sun D.
Han G.
Wang F.
Ye M.
Wang L.
Zou H.
doi:10.1021/pr8008012
2009
J. Proteome Res.
8
651-661
GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-182
Liver
Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
Mayya V.
Lundgren D.H.
Hwang S.-I.
Rezaul K.
Wu L.
Eng J.K.
Rodionov V.
Han D.K.
doi:10.1126/scisignal.2000007
2009
Sci. Signal.
2
RA46
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
Leukemic T-cell
Initial characterization of the human central proteome.
Burkard T.R.
Planyavsky M.
Kaupe I.
Breitwieser F.P.
Buerckstuemmer T.
Bennett K.L.
Superti-Furga G.
Colinge J.
doi:10.1186/1752-0509-5-17
2011
BMC Syst. Biol.
5
17
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.
Alanay Y.
Avaygan H.
Camacho N.
Utine G.E.
Boduroglu K.
Aktas D.
Alikasifoglu M.
Tuncbilek E.
Orhan D.
Bakar F.T.
Zabel B.
Superti-Furga A.
Bruckner-Tuderman L.
Curry C.J.
Pyott S.
Byers P.H.
Eyre D.R.
Baldridge D.
Lee B.
Merrill A.E.
Davis E.C.
Cohn D.H.
Akarsu N.
Krakow D.
doi:10.1016/j.ajhg.2010.02.022
2010
Am. J. Hum. Genet.
86
551-559
VARIANT OI11 107-MET--LEU-117 DEL
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.
Kelley B.P.
Malfait F.
Bonafe L.
Baldridge D.
Homan E.
Symoens S.
Willaert A.
Elcioglu N.
Van Maldergem L.
Verellen-Dumoulin C.
Gillerot Y.
Napierala D.
Krakow D.
Beighton P.
Superti-Furga A.
De Paepe A.
Lee B.
doi:10.1002/jbmr.250
2011
J. Bone Miner. Res.
26
666-672
VARIANT BRKS1 GLN-115
INVOLVEMENT IN OI11
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
Schwarze U.
Cundy T.
Pyott S.M.
Christiansen H.E.
Hegde M.R.
Bank R.A.
Pals G.
Ankala A.
Conneely K.
Seaver L.
Yandow S.M.
Raney E.
Babovic-Vuksanovic D.
Stoler J.
Ben-Neriah Z.
Segel R.
Lieberman S.
Siderius L.
Al-Aqeel A.
Hannibal M.
Hudgins L.
McPherson E.
Clemens M.
Sussman M.D.
Steiner R.D.
Mahan J.
Smith R.
Anyane-Yeboa K.
Wynn J.
Chong K.
Uster T.
Aftimos S.
Sutton V.R.
Davis E.C.
Kim L.S.
Weis M.A.
Eyre D.
Byers P.H.
doi:10.1093/hmg/dds371
2013
Hum. Mol. Genet.
22
1-17
VARIANTS BRKS1 LYS-113; GLN-115 AND LEU-136
INVOLVEMENT IN OI11
Osteogenesis imperfecta variant database; The FKBP10 gene homepage
Different initiation.
Different initiation.
113
20
12 N-Linked glycans (6 sites)
7 sites, 13 glycans
12 sites, 18 N-linked glycans (6 sites), 1 O-linked glycan (5 sites)
308 antibodies from 30 providers
human
FKBP10
Low tissue specificity
phenotype
gene
phenotype
Bruck syndrome
Kuskokwim syndrome
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Eukaryota
18 hits in 1156 CRISPR screens
human
Tbio
Protein
Expressed in stromal cell of endometrium and 108 other cell types or tissues
baseline and differential
EFh
EF-hand
EF-hand-dom_pair
EF_Hand_1_Ca_BS
EF_hand_dom
PPIase_dom_sf
PPIase_FKBP_dom
PEPTIDYL-PROLYL CIS-TRANS ISOMERASE FKBP10
PEPTIDYLPROLYL ISOMERASE
EF-hand_5
FKBP_C
EFh
EF-hand
FKBP-like
EF_HAND_1
EF_HAND_2
ER_TARGET
FKBP_PPIASE
HS
Peptidyl-prolyl cis-trans isomerase FKBP10
PPIase FKBP10
5.2.1.8
65 kDa FK506-binding protein
65 kDa FKBP
FKBP-65
FK506-binding protein 10
FKBP-10
Immunophilin FKBP65
Rotamase
FKBP10
FKBP65
PSEC0056
PPIases accelerate the folding of proteins during protein synthesis.
Inhibited by both FK506 and rapamycin, but not by cyclosporin A.
Glycosylated and phosphorylated.
The disease is caused by variants affecting the gene represented in this entry.
The disease is caused by variants affecting the gene represented in this entry.
Truncated N-terminus.
Extended N-terminus.
1
26
Peptidyl-prolyl cis-trans isomerase FKBP10
61438
27
582
PPIase FKBP-type 1
62
150
PPIase FKBP-type 2
174
262
PPIase FKBP-type 3
286
374
PPIase FKBP-type 4
399
486
EF-hand 1
497
532
EF-hand 2
542
577
Disordered
533
Prevents secretion from ER
579
Basic and acidic residues
559
510
512
514
516
521
555
557
561
566
N-linked (GlcNAc...) asparagine
70
N-linked (GlcNAc...) asparagine
182
N-linked (GlcNAc...) asparagine
294
N-linked (GlcNAc...) asparagine
310
N-linked (GlcNAc...) asparagine
352
N-linked (GlcNAc...) asparagine
393
N-linked (GlcNAc...) asparagine
407
In isoform 2.
2
177
In isoform 2.
SLMDGTLFDSSYSRNHTYNTYIGQGYIIP
184
212
In isoform 2.
QGACMGERRRITIPPHLAYGENGTDSIGFLQGSAPLRPFRSGEGQPSLGREGGYGKTEPAYPQDPAVLGASVSSPVKWASHADPQ
219
303
In isoform 2.
304
354
In OI11.
107
117
In BRKS1.
K
113
In BRKS1.
Q
115
In BRKS1.
L
136
R
197
F
190
L
456
1
2
false
3
SPRED1
2001-12-01
1
true
64245
aa4e0150c82a9a7e12f2300ee34c98c8
1
MFPAGPPSHSLLRLPLLQLLLLVVQAVGRGLGRASPAGGPLEDVVIERYHIPRACPREVQMGDFVRYHYNGTFEDGKKFDSSYDRNTLVAIVVGVGRLITGMDRGLMGMCVNERRRLIVPPHLGYGSIGLAGLIPPDATLYFDVVLLDVWNKEDTVQVSTLLRPPHCPRMVQDGDFVRYHYNGTLLDGTSFDTSYSKGGTYDTYVGSGWLIKGMDQGLLGMCPGERRKIIIPPFLAYGEKGYGTVIPPQASLVFHVLLIDVHNPKDAVQLETLELPPGCVRRAGAGDFMRYHYNGSLMDGTLFDSSYSRNHTYNTYIGQGYIIPGMDQGLQGACMGERRRITIPPHLAYGENGTGDKIPGSAVLIFNVHVIDFHNPADVVEIRTLSRPSETCNETTKLGDFVRYHYNCSLLDGTQLFTSHDYGAPQEATLGANKVIEGLDTGLQGMCVGERRQLIVPPHLAHGESGARGVPGSAVLLFEVELVSREDGLPTGYLFVWHKDPPANLFEDMDLNKDGEVPPEEFSTFIKAQVSEGKGRLMPGQDPEKTIGDMFQNQDRNQDGKITVDELKLKSDEDEERVHEEL
2
MRYHYNGSLMDGTLFDSSYSRNHTYNTYIGQGYIIPGMDQGLQGACMGERRRITIPPHLAYGENGTDSIGFLQGSAPLRPFRSGEGQPSLGREGGYGKTEPAYPQDPAVLGASVSSPVKWASHADPQGDKIPGSAVLIFNVHVIDFHNPADVVEIRTLSRPSETCNETTKLGDFVRYHYNCSLLDGTQLFTSHDYGAPQEATLGANKVIEGLDTGLQGMCVGERRQLIVPPHLAHGESGARGVPGSAVLLFEVELVSREDGLPTGYLFVWHKDPPANLFEDMDLNKDGEVPPEEFSTFIKAQVSEGKGRLMPGQDPEKTIGDMFQNQDRNQDGKITVDELKLKSDEDEERVHEEL
true
true
true
true
true
true
true
true
true
true
true
true
true
true
true