ID   FKBP6_HUMAN             Reviewed;         327 AA.
AC   O75344; B4DXT7; Q9UDS0;
DT   21-FEB-2001, integrated into UniProtKB/Swiss-Prot.
DT   01-NOV-1998, sequence version 1.
DT   25-JAN-2012, entry version 106.
DE   RecName: Full=Peptidyl-prolyl cis-trans isomerase FKBP6;
DE            Short=PPIase FKBP6;
DE            EC=5.2.1.8;
DE   AltName: Full=36 kDa FK506-binding protein;
DE            Short=36 kDa FKBP;
DE            Short=FKBP-36;
DE   AltName: Full=FK506-binding protein 6;
DE            Short=FKBP-6;
DE   AltName: Full=Immunophilin FKBP36;
DE   AltName: Full=Rotamase;
GN   Name=FKBP6; Synonyms=FKBP36;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC   TISSUE=Testis;
RX   MEDLINE=99000831; PubMed=9782077; DOI=10.1006/geno.1998.5412;
RA   Meng X., Lu X., Morris C.A., Keating M.T.;
RT   "A novel human gene FKBP6 is deleted in Williams syndrome.";
RL   Genomics 52:130-137(1998).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC   TISSUE=Testis;
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.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   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.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., 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   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   MEDLINE=22737999; PubMed=12853948; DOI=10.1038/nature01782;
RA   Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA   Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R.,
RA   Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E.,
RA   Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H.,
RA   Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A.,
RA   Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J.,
RA   Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A.,
RA   Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S.,
RA   Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M.,
RA   Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C.,
RA   Latreille P., Miller N., Johnson D., Murray J., Woessner J.P.,
RA   Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J.,
RA   Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L.,
RA   Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R.,
RA   Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA   Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K.,
RA   Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S.,
RA   Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M.,
RA   Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R.,
RA   Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D.,
RA   Waterston R.H., Wilson R.K.;
RT   "The DNA sequence of human chromosome 7.";
RL   Nature 424:157-164(2003).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   Venter J.C.;
RL   Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Brain;
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
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
CC   -!- FUNCTION: PPIases accelerate the folding of proteins.
CC   -!- CATALYTIC ACTIVITY: Peptidylproline (omega=180) = peptidylproline
CC       (omega=0).
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=O75344-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=O75344-2; Sequence=VSP_042038;
CC         Note=No experimental confirmation available;
CC   -!- TISSUE SPECIFICITY: Detected in all tissues examined, with higher
CC       expression in testis, heart, skeletal muscle, liver, and kidney.
CC   -!- DISEASE: Note=FKBP6 is located in the Williams-Beuren syndrome
CC       (WBS) critical region. WBS results from a hemizygous deletion of
CC       several genes on chromosome 7q11.23, thought to arise as a
CC       consequence of unequal crossing over between highly homologous
CC       low-copy repeat sequences flanking the deleted region.
CC       Haploinsufficiency of FKBP6 may be the cause of certain
CC       cardiovascular and musculo-skeletal abnormalities observed in the
CC       disease.
CC   -!- SIMILARITY: Contains 1 PPIase FKBP-type domain.
CC   -!- SIMILARITY: Contains 3 TPR repeats.
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DR   EMBL; AF038847; AAC64249.1; -; mRNA.
DR   EMBL; AK302121; BAG63499.1; -; mRNA.
DR   EMBL; BC036817; AAH36817.1; -; mRNA.
DR   EMBL; AC005049; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC073841; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471200; EAW69686.1; -; Genomic_DNA.
DR   IPI; IPI00025280; -.
DR   RefSeq; NP_001128683.1; NM_001135211.1.
DR   RefSeq; NP_003593.3; NM_003602.3.
DR   UniGene; Hs.661266; -.
DR   PDB; 3B7X; X-ray; 2.10 A; A=12-144.
DR   PDBsum; 3B7X; -.
DR   ProteinModelPortal; O75344; -.
DR   SMR; O75344; 19-320.
DR   IntAct; O75344; 2.
DR   MINT; MINT-1460144; -.
DR   STRING; O75344; -.
DR   PhosphoSite; O75344; -.
DR   PRIDE; O75344; -.
DR   Ensembl; ENST00000252037; ENSP00000252037; ENSG00000077800.
DR   GeneID; 8468; -.
DR   KEGG; hsa:8468; -.
DR   UCSC; uc003tya.2; human.
DR   CTD; 8468; -.
DR   GeneCards; GC07P072742; -.
DR   H-InvDB; HIX0006777; -.
DR   H-InvDB; HIX0025266; -.
DR   H-InvDB; HIX0078779; -.
DR   H-InvDB; HIX0114828; -.
DR   HGNC; HGNC:3722; FKBP6.
DR   HPA; HPA043046; -.
DR   MIM; 604839; gene.
DR   neXtProt; NX_O75344; -.
DR   Orphanet; 904; Williams syndrome.
DR   PharmGKB; PA28163; -.
DR   eggNOG; prNOG07992; -.
DR   GeneTree; ENSGT00550000074272; -.
DR   HOGENOM; HBG283916; -.
DR   HOVERGEN; HBG051625; -.
DR   InParanoid; O75344; -.
DR   OMA; CLLLTEY; -.
DR   PhylomeDB; O75344; -.
DR   Reactome; REACT_111183; Meiosis.
DR   NextBio; 31692; -.
DR   ArrayExpress; O75344; -.
DR   Bgee; O75344; -.
DR   CleanEx; HS_FKBP6; -.
DR   Genevestigator; O75344; -.
DR   GO; GO:0016020; C:membrane; IBA:RefGenome.
DR   GO; GO:0005528; F:FK506 binding; IBA:RefGenome.
DR   GO; GO:0003755; F:peptidyl-prolyl cis-trans isomerase activity; IBA:RefGenome.
DR   GO; GO:0006457; P:protein folding; TAS:ProtInc.
DR   InterPro; IPR023566; PPIase_FKBP.
DR   InterPro; IPR001179; PPIase_FKBP_dom.
DR   InterPro; IPR013026; TPR-contain.
DR   InterPro; IPR011990; TPR-like_helical.
DR   Gene3D; G3DSA:1.25.40.10; TPR-like_helical; 1.
DR   KO; K09572; -.
DR   PANTHER; PTHR10516; PPIase_FKBP; 1.
DR   Pfam; PF00254; FKBP_C; 1.
DR   PROSITE; PS50059; FKBP_PPIASE; 1.
DR   PROSITE; PS50005; TPR; FALSE_NEG.
DR   PROSITE; PS50293; TPR_REGION; 1.
PE   1: Evidence at protein level;
KW   3D-structure; Alternative splicing; Complete proteome; Isomerase;
KW   Reference proteome; Repeat; Rotamase; TPR repeat;
KW   Williams-Beuren syndrome.
FT   CHAIN         1    327       Peptidyl-prolyl cis-trans isomerase
FT                                FKBP6.
FT                                /FTId=PRO_0000075329.
FT   DOMAIN       54    143       PPIase FKBP-type.
FT   REPEAT      171    204       TPR 1.
FT   REPEAT      219    252       TPR 2.
FT   REPEAT      253    286       TPR 3.
FT   VAR_SEQ       1     19       MGGSALNQGVLEGDDAPGQ -> MSASSWPQNGMPPS (in
FT                                isoform 2).
FT                                /FTId=VSP_042038.
FT   HELIX        21     25
FT   TURN         26     28
FT   STRAND       30     44
FT   STRAND       47     50
FT   STRAND       56     64
FT   STRAND       72     74
FT   HELIX        93    100
FT   STRAND      107    112
FT   HELIX       114    116
FT   TURN        117    121
FT   TURN        124    126
SQ   SEQUENCE   327 AA;  37214 MW;  C137FA629B676623 CRC64;
     MGGSALNQGV LEGDDAPGQS LYERLSQRML DISGDRGVLK DVIREGAGDL VAPDASVLVK
     YSGYLEHMDR PFDSNYFRKT PRLMKLGEDI TLWGMELGLL SMRRGELARF LFKPNYAYGT
     LGCPPLIPPN TTVLFEIELL DFLDCAESDK FCALSAEQQD QFPLQKVLKV AATEREFGNY
     LFRQNRFYDA KVRYKRALLL LRRRSAPPEE QHLVEAAKLP VLLNLSFTYL KLDRPTIALC
     YGEQALIIDQ KNAKALFRCG QACLLLTEYQ KARDFLVRAQ KEQPFNHDIN NELKKLASCY
     RDYVDKEKEM WHRMFAPCGD GSTAGES
//