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2024-04-19 11:38:26, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_012181 1787 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA.
ACCESSION NM_012181
VERSION NM_012181.3 GI:52630439
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 1787)
AUTHORS Hutt,D.M., Roth,D.M., Chalfant,M.A., Youker,R.T., Matteson,J.,
Brodsky,J.L. and Balch,W.E.
TITLE FK506 binding protein 8 peptidylprolyl isomerase activity manages a
late stage of cystic fibrosis transmembrane conductance regulator
(CFTR) folding and stability
JOURNAL J. Biol. Chem. 287 (26), 21914-21925 (2012)
PUBMED 22474283
REMARK GeneRIF: FK506 binding protein 8 peptidylprolyl isomerase activity
manages a late stage of cystic fibrosis transmembrane conductance
regulator (CFTR) folding and stability
REFERENCE 2 (bases 1 to 1787)
AUTHORS Haupt,K., Jahreis,G., Linnert,M., Maestre-Martinez,M.,
Malesevic,M., Pechstein,A., Edlich,F. and Lucke,C.
TITLE The FKBP38 catalytic domain binds to Bcl-2 via a charge-sensitive
loop
JOURNAL J. Biol. Chem. 287 (23), 19665-19673 (2012)
PUBMED 22523079
REMARK GeneRIF: The derived structure model of the complex between Bcl-2
and the FKBP38 catalytic domain features both electrostatic and
hydrophobic intermolecular contacts and provides a rationale for
the regulation of the FKBP38/Bcl-2 interaction by Ca(2+).
REFERENCE 3 (bases 1 to 1787)
AUTHORS Banasavadi-Siddegowda,Y.K., Mai,J., Fan,Y., Bhattacharya,S.,
Giovannucci,D.R., Sanchez,E.R., Fischer,G. and Wang,X.
TITLE FKBP38 peptidylprolyl isomerase promotes the folding of cystic
fibrosis transmembrane conductance regulator in the endoplasmic
reticulum
JOURNAL J. Biol. Chem. 286 (50), 43071-43080 (2011)
PUBMED 22030396
REMARK GeneRIF: Data support a dual role for FKBP38 in regulating CFTR
synthesis and post-translational folding.
REFERENCE 4 (bases 1 to 1787)
AUTHORS Yoon,M.S., Sun,Y., Arauz,E., Jiang,Y. and Chen,J.
TITLE Phosphatidic acid activates mammalian target of rapamycin complex 1
(mTORC1) kinase by displacing FK506 binding protein 38 (FKBP38) and
exerting an allosteric effect
JOURNAL J. Biol. Chem. 286 (34), 29568-29574 (2011)
PUBMED 21737445
REMARK GeneRIF: a dual mechanism for PA activation of mTORC1: PA displaces
FKBP38 from mTOR and allosterically stimulates the catalytic
activity of mTORC1.
REFERENCE 5 (bases 1 to 1787)
AUTHORS Choi,M.S., Min,S.H., Jung,H., Lee,J.D., Lee,T.H., Lee,H.K. and
Yoo,O.J.
TITLE The essential role of FKBP38 in regulating phosphatase of
regenerating liver 3 (PRL-3) protein stability
JOURNAL Biochem. Biophys. Res. Commun. 406 (2), 305-309 (2011)
PUBMED 21320469
REMARK GeneRIF: These results demonstrate that FKBP38 is a novel regulator
of the oncogenic protein PRL-3 abundance and that alteration in the
stability of PRL-3 can have a dramatic impact on cell
proliferation.
REFERENCE 6 (bases 1 to 1787)
AUTHORS Grimwood,J., Gordon,L.A., Olsen,A., Terry,A., Schmutz,J.,
Lamerdin,J., Hellsten,U., Goodstein,D., Couronne,O.,
Tran-Gyamfi,M., Aerts,A., Altherr,M., Ashworth,L., Bajorek,E.,
Black,S., Branscomb,E., Caenepeel,S., Carrano,A., Caoile,C.,
Chan,Y.M., Christensen,M., Cleland,C.A., Copeland,A., Dalin,E.,
Dehal,P., Denys,M., Detter,J.C., Escobar,J., Flowers,D.,
Fotopulos,D., Garcia,C., Georgescu,A.M., Glavina,T., Gomez,M.,
Gonzales,E., Groza,M., Hammon,N., Hawkins,T., Haydu,L., Ho,I.,
Huang,W., Israni,S., Jett,J., Kadner,K., Kimball,H., Kobayashi,A.,
Larionov,V., Leem,S.H., Lopez,F., Lou,Y., Lowry,S., Malfatti,S.,
Martinez,D., McCready,P., Medina,C., Morgan,J., Nelson,K.,
Nolan,M., Ovcharenko,I., Pitluck,S., Pollard,M., Popkie,A.P.,
Predki,P., Quan,G., Ramirez,L., Rash,S., Retterer,J., Rodriguez,A.,
Rogers,S., Salamov,A., Salazar,A., She,X., Smith,D., Slezak,T.,
Solovyev,V., Thayer,N., Tice,H., Tsai,M., Ustaszewska,A., Vo,N.,
Wagner,M., Wheeler,J., Wu,K., Xie,G., Yang,J., Dubchak,I.,
Furey,T.S., DeJong,P., Dickson,M., Gordon,D., Eichler,E.E.,
Pennacchio,L.A., Richardson,P., Stubbs,L., Rokhsar,D.S.,
Myers,R.M., Rubin,E.M. and Lucas,S.M.
TITLE The DNA sequence and biology of human chromosome 19
JOURNAL Nature 428 (6982), 529-535 (2004)
PUBMED 15057824
REFERENCE 7 (bases 1 to 1787)
AUTHORS Rosner,M., Hofer,K., Kubista,M. and Hengstschlager,M.
TITLE Cell size regulation by the human TSC tumor suppressor proteins
depends on PI3K and FKBP38
JOURNAL Oncogene 22 (31), 4786-4798 (2003)
PUBMED 12894220
REMARK GeneRIF: FKBP38 plays a role in TSC gene-dependent cell size
regulation.
REFERENCE 8 (bases 1 to 1787)
AUTHORS Shirane,M. and Nakayama,K.I.
TITLE Inherent calcineurin inhibitor FKBP38 targets Bcl-2 to mitochondria
and inhibits apoptosis
JOURNAL Nat. Cell Biol. 5 (1), 28-37 (2003)
PUBMED 12510191
REFERENCE 9 (bases 1 to 1787)
AUTHORS Pedersen,K.M., Finsen,B., Celis,J.E. and Jensen,N.A.
TITLE muFKBP38: a novel murine immunophilin homolog differentially
expressed in Schwannoma cells and central nervous system neurons in
vivo
JOURNAL Electrophoresis 20 (2), 249-255 (1999)
PUBMED 10197430
REFERENCE 10 (bases 1 to 1787)
AUTHORS Lam,E., Martin,M. and Wiederrecht,G.
TITLE Isolation of a cDNA encoding a novel human FK506-binding protein
homolog containing leucine zipper and tetratricopeptide repeat
motifs
JOURNAL Gene 160 (2), 297-302 (1995)
PUBMED 7543869
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BX538124.1, BC009966.1,
AK026952.1, BM790404.1, AL555689.3, BM719161.1, AL042208.1 and
BQ953871.1.
On Sep 24, 2004 this sequence version replaced gi:17149850.
Summary: The protein encoded by this gene is a member of the
immunophilin protein family, which play a role in immunoregulation
and basic cellular processes involving protein folding and
trafficking. Unlike the other members of the family, this encoded
protein does not seem to have PPIase/rotamase activity. It may have
a role in neurons associated with memory function. [provided by
RefSeq, Jul 2008].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: BX647405.1, BX647720.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025082 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-543 BX538124.1 2-544
544-664 BC009966.1 274-394
665-687 BX538124.1 666-688
688-1760 BC009966.1 415-1487
1761-1761 AK026952.1 2372-2372
1762-1762 BM790404.1 292-292
1763-1764 AL555689.3 399-400
1765-1765 BM719161.1 281-281
1766-1766 AL042208.1 292-292
1767-1787 BQ953871.1 698-718
FEATURES Location/Qualifiers
source 1..1787
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="19"
/map="19p12"
gene 1..1787
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/note="FK506 binding protein 8, 38kDa"
/db_xref="GeneID:23770"
/db_xref="HGNC:3724"
/db_xref="MIM:604840"
exon 1..88
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/inference="alignment:Splign:1.39.8"
exon 89..405
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/inference="alignment:Splign:1.39.8"
CDS 114..1355
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/EC_number="5.2.1.8"
/note="FK506-binding protein 8 (38kD); FKBP-8; FKBP-38;
hFKBP38; rotamase; 38 kDa FKBP; PPIase FKBP8; 38 kDa
FK506-binding protein"
/codon_start=1
/product="peptidyl-prolyl cis-trans isomerase FKBP8"
/protein_id="NP_036313.3"
/db_xref="GI:52630440"
/db_xref="CCDS:CCDS32961.1"
/db_xref="GeneID:23770"
/db_xref="HGNC:3724"
/db_xref="MIM:604840"
/translation="
MASCAEPSEPSAPLPAGVPPLEDFEVLDGVEDAEGEEEEEEEEEEEDDLSELPPLEDMGQPPAEEAEQPGALAREFLAAMEPEPAPAPAPEEWLDILGNGLLRKKTLVPGPPGSSRPVKGQVVTVHLQTSLENGTRVQEEPELVFTLGDCDVIQALDLSVPLMDVGETAMVTADSKYCYGPQGSRSPYIPPHAALCLEVTLKTAVDGPDLEMLTGQERVALANRKRECGNAHYQRADFVLAANSYDLAIKAITSSAKVDMTFEEEAQLLQLKVKCLNNLAASQLKLDHYRAALRSCSLVLEHQPDNIKALFRKGKVLAQQGEYSEAIPILRAALKLEPSNKTIHAELSKLVKKHAAQRSTETALYRKMLGNPSRLPAKCPGKGAWSIPWKWLFGATAVALGGVALSVVIAARN
"
misc_feature 450..719
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/note="FKBP-type peptidyl-prolyl cis-trans isomerase;
Region: FKBP_C; pfam00254"
/db_xref="CDD:201116"
misc_feature 774..1025
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/note="TPR repeat; Region: TPR_11; pfam13414"
/db_xref="CDD:205592"
misc_feature 777..878
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q14318.2);
Region: TPR 1"
misc_feature 792..1130
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/note="Tetratricopeptide repeat domain; typically contains
34 amino acids
[WLF]-X(2)-[LIM]-[GAS]-X(2)-[YLF]-X(8)-[ASE]-X(3)-[FYL]-
X(2)-[ASL]-X(4)-[PKE] is the consensus sequence; found in
a variety of organisms including bacteria, cyanobacteria,
yeast, fungi; Region: TPR; cd00189"
/db_xref="CDD:29151"
misc_feature order(792..794,801..806,942..947,951..956,963..968,
1044..1049,1056..1061,1068..1073)
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/note="binding surface"
/db_xref="CDD:29151"
misc_feature order(798..800,834..836,846..848,855..857,951..953,
987..989,999..1001,1008..1010,1053..1055,1089..1091,
1101..1103,1110..1112)
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/note="TPR motif; other site"
/db_xref="CDD:29151"
misc_feature 930..1031
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q14318.2);
Region: TPR 2"
misc_feature 933..1127
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/note="TPR repeat; Region: TPR_11; pfam13414"
/db_xref="CDD:205592"
misc_feature 1032..1133
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q14318.2);
Region: TPR 3"
misc_feature 1080..1082
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 1284..1346
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q14318.2);
transmembrane region"
variation 159
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/replace="a"
/replace="g"
/db_xref="dbSNP:11541428"
STS 250..354
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/standard_name="D15S134E"
/db_xref="UniSTS:147417"
variation 269
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/replace="a"
/replace="g"
/db_xref="dbSNP:11541427"
variation 326
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/replace="c"
/replace="t"
/db_xref="dbSNP:11541421"
variation 335
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/replace="a"
/replace="g"
/db_xref="dbSNP:11541423"
variation 365
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/replace="c"
/replace="t"
/db_xref="dbSNP:11574805"
variation 373
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/replace="c"
/replace="t"
/db_xref="dbSNP:11574806"
exon 406..575
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/inference="alignment:Splign:1.39.8"
exon 576..664
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/inference="alignment:Splign:1.39.8"
exon 665..885
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/inference="alignment:Splign:1.39.8"
variation 731
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/replace="c"
/replace="t"
/db_xref="dbSNP:11541429"
variation 740
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/replace="c"
/replace="t"
/db_xref="dbSNP:2872710"
variation 744
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/replace="c"
/replace="g"
/db_xref="dbSNP:2314668"
STS 840..1039
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/standard_name="FKBP8"
/db_xref="UniSTS:505729"
exon 886..1058
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/inference="alignment:Splign:1.39.8"
variation 975
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/replace="c"
/replace="t"
/db_xref="dbSNP:11541424"
exon 1059..1136
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/inference="alignment:Splign:1.39.8"
exon 1137..1268
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/inference="alignment:Splign:1.39.8"
exon 1269..1766
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/inference="alignment:Splign:1.39.8"
STS 1343..1579
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/standard_name="STS-L37033"
/db_xref="UniSTS:71826"
variation 1380
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/replace="c"
/replace="t"
/db_xref="dbSNP:11541425"
variation 1449
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/replace="c"
/replace="t"
/db_xref="dbSNP:1058799"
variation 1602
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/replace="c"
/replace="g"
/db_xref="dbSNP:1058849"
variation 1614
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/replace="c"
/replace="t"
/db_xref="dbSNP:1803588"
variation 1632
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/replace="c"
/replace="t"
/db_xref="dbSNP:1058853"
polyA_signal 1741..1746
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
variation 1754
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/replace="a"
/replace="c"
/db_xref="dbSNP:3179087"
polyA_site 1761
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
/experiment="experimental evidence, no additional details
recorded"
polyA_site 1766
/gene="FKBP8"
/gene_synonym="FKBP38; FKBPr38"
ORIGIN
ggccgaacctggttcccgaggcgcggcggccgcggctgggggcggggaggggggcgcaggaccccaagtgggggtcccggagccagagggccaattcctgtccccccagcagcatggcatcgtgtgctgaaccctctgagccctctgccccactgcccgccggggtcccaccgctcgaggacttcgaggtactggatggggttgaggatgcagagggtgaggaggaagaggaggaggaagaggaggaagaggatgacctgagtgagctgccaccgctggaggacatgggacaacccccggcggaggaggctgagcagcctggggccctggcccgagagttccttgctgccatggagcccgagcccgccccagccccggccccagaagagtggctggacattctggggaacgggctgttgaggaagaagacgctggtcccagggccgccaggttcgagccgcccggtcaagggccaggtggtcaccgtacatctgcagacgtcgctggagaatggcacacgggtgcaggaggagccggagctggtgttcactctgggtgactgtgacgtcatccaggccctggatctcagtgtcccactcatggacgtgggggagacggccatggtcactgctgactccaagtactgctacggcccccaaggcagcaggagcccatacatccccccgcacgcggccctgtgcctggaggtgaccctgaagacggctgtggacgggcctgacctggagatgctcacggggcaggagcgcgtggccctggccaaccggaagcgggagtgcggcaacgcccactaccagcgggcggacttcgtcctggccgccaactcctacgacctcgccatcaaggctatcacctccagcgccaaagtggacatgacgttcgaggaggaggcacagctcctgcagttgaaggtgaagtgtctgaacaacctggcggcctcgcagctgaagctcgaccactaccgcgcagccctgcgctcctgcagccttgtgctggagcaccagccagacaacatcaaggctctcttccgcaagggcaaggtgctggcccagcagggggagtacagtgaggccatccccatcctgagggcagccctgaagctggaaccttccaacaagacgatccacgcagagctctcaaagctggtgaagaagcatgcggcgcagcggagcacggagaccgccttgtaccggaaaatgctgggcaaccccagccggctgcctgctaagtgccctggcaagggtgcctggtccatcccatggaagtggctgtttggggcgactgctgttgccttggggggtgtggcactctctgtggtcatcgctgccaggaactgaccacctaggtggctgccaccccctctgcacaccatggaccctgccctgcgctccccaactcccccaggctccctgtccactgccctccctggtctggccccctcctccgggttaggggagcaaggattgggggtcgtgcagcccagccagcaggagggactgaggccctctaggaggaaagcccagagggagggggccctcattccttcagacccagttttcccccaccctccttaccccgctgggctaggtctccgccagggctggcctcagtttctcctcaacaggcctgggggcagcccttcccctgcctagtccccgcctgagtgccagccccccaccccgcctgccgccccctgtccaggttccctccccgccacagtgaaataaagcatcccaccctgcagtttcaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:23770 -> Molecular function: GO:0003755 [peptidyl-prolyl cis-trans isomerase activity] evidence: IBA
GeneID:23770 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:23770 -> Molecular function: GO:0005528 [FK506 binding] evidence: IBA
GeneID:23770 -> Biological process: GO:0000413 [protein peptidyl-prolyl isomerization] evidence: IBA
GeneID:23770 -> Biological process: GO:0001708 [cell fate specification] evidence: IEA
GeneID:23770 -> Biological process: GO:0006457 [protein folding] evidence: IEA
GeneID:23770 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:23770 -> Biological process: GO:0007224 [smoothened signaling pathway] evidence: IEA
GeneID:23770 -> Biological process: GO:0010468 [regulation of gene expression] evidence: IEA
GeneID:23770 -> Biological process: GO:0018208 [peptidyl-proline modification] evidence: IBA
GeneID:23770 -> Biological process: GO:0019048 [modulation by virus of host morphology or physiology] evidence: IEA
GeneID:23770 -> Biological process: GO:0021904 [dorsal/ventral neural tube patterning] evidence: IEA
GeneID:23770 -> Biological process: GO:0030513 [positive regulation of BMP signaling pathway] evidence: IEA
GeneID:23770 -> Biological process: GO:0035264 [multicellular organism growth] evidence: IEA
GeneID:23770 -> Biological process: GO:0035556 [intracellular signal transduction] evidence: TAS
GeneID:23770 -> Biological process: GO:0043010 [camera-type eye development] evidence: IEA
GeneID:23770 -> Cellular component: GO:0005740 [mitochondrial envelope] evidence: IBA
GeneID:23770 -> Cellular component: GO:0030176 [integral to endoplasmic reticulum membrane] evidence: IBA
GeneID:23770 -> Cellular component: GO:0031966 [mitochondrial membrane] evidence: IEA
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_036313 -> EC 5.2.1.8
by
@meso_cacase at
DBCLS
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