ID   FKBP6_HUMAN             Reviewed;         327 AA.
AC   O75344; Q9UDS0;
DT   21-FEB-2001, integrated into UniProtKB/Swiss-Prot.
DT   01-NOV-1998, sequence version 1.
DT   07-JUL-2009, entry version 83.
DE   RecName: Full=FK506-binding protein 6;
DE            EC=5.2.1.8;
DE   AltName: Full=Peptidyl-prolyl cis-trans isomerase;
DE            Short=PPIase;
DE            Short=Rotamase;
DE   AltName: Full=36 kDa FK506-binding protein;
DE   AltName: Full=FKBP-36;
DE   AltName: Full=Immunophilin FKBP36;
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].
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].
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   -!- TISSUE SPECIFICITY: Detected in all tissues examined, with higher
CC       expression in testis, heart, skeletal muscle, liver, and kidney.
CC   -!- DISEASE: Haploinsufficiency of FKBP6 may be the cause of certain
CC       cardiovascular and musculo-skeletal abnormalities observed in
CC       Williams-Beuren syndrome (WBS) [MIM:194050]; a rare developmental
CC       disorder. It is a contiguous gene deletion syndrome involving
CC       genes from chromosome band 7q11.23.
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; BC036817; AAH36817.1; -; mRNA.
DR   IPI; IPI00025280; -.
DR   RefSeq; NP_003593.3; -.
DR   UniGene; Hs.661266; -.
DR   PDB; 3B7X; X-ray; 2.10 A; A=12-144.
DR   PDBsum; 3B7X; -.
DR   IntAct; O75344; 2.
DR   PhosphoSite; O75344; -.
DR   PRIDE; O75344; -.
DR   Ensembl; ENSG00000077800; Homo sapiens.
DR   GeneID; 8468; -.
DR   UCSC; uc003tya.2; human.
DR   GeneCards; GC07P072380; -.
DR   HGNC; HGNC:3722; FKBP6.
DR   MIM; 194050; phenotype.
DR   MIM; 604839; gene.
DR   Orphanet; 904; Williams syndrome.
DR   PharmGKB; PA28163; -.
DR   HOGENOM; O75344; -.
DR   HOVERGEN; O75344; -.
DR   OMA; O75344; LFRCGQA.
DR   BRENDA; 5.2.1.8; 247.
DR   NextBio; 31692; -.
DR   ArrayExpress; O75344; -.
DR   Bgee; O75344; -.
DR   CleanEx; HS_FKBP6; -.
DR   GO; GO:0005528; F:FK506 binding; TAS:ProtInc.
DR   GO; GO:0003755; F:peptidyl-prolyl cis-trans isomerase activity; IEA:UniProtKB-KW.
DR   GO; GO:0006457; P:protein folding; TAS:ProtInc.
DR   InterPro; IPR001179; PPIase_FKBP.
DR   InterPro; IPR011990; TPR-like_helical.
DR   InterPro; IPR013026; TPR_region.
DR   Gene3D; G3DSA:1.25.40.10; TPR-like_helical; 1.
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; Complete proteome; Isomerase; Repeat; Rotamase;
KW   TPR repeat; Williams-Beuren syndrome.
FT   CHAIN         1    327       FK506-binding protein 6.
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   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
//