LOCUS       NP_003593                327 aa            linear   PRI 22-OCT-2008
DEFINITION  FK506 binding protein 6 isoform a [Homo sapiens].
ACCESSION   NP_003593
VERSION     NP_003593.3  GI:146229346
DBSOURCE    REFSEQ: accession NM_003602.3
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 327)
  AUTHORS   Jarczowski,F., Fischer,G. and Edlich,F.
  TITLE     FKBP36 forms complexes with clathrin and Hsp72 in spermatocytes
  JOURNAL   Biochemistry 47 (26), 6946-6952 (2008)
   PUBMED   18529014
  REMARK    GeneRIF: clathrin-FKBP36-Hsp72 complexes resulting from both
            identified interactions are bound to the matrices of
            clathrin-coated vesicles in spermatocytes, which indicates a
            possible role of FKBP36 and Hsp72 in the disassembly of clathrin
            coats
REFERENCE   2  (residues 1 to 327)
  AUTHORS   Zhang,W., Zhang,S., Xiao,C., Yang,Y. and Zhoucun,A.
  TITLE     Mutation screening of the FKBP6 gene and its association study with
            spermatogenic impairment in idiopathic infertile men
  JOURNAL   Reproduction 133 (2), 511-516 (2007)
   PUBMED   17307919
  REMARK    GeneRIF: may play a role in modifying the susceptibility to
            idiopathic spermatogenic impairment in human; allele A of c.216C>A
            seems to be a protective factor for the development of male
            infertility
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (residues 1 to 327)
  AUTHORS   Westerveld,G.H., Repping,S., Lombardi,M.P. and van der Veen,F.
  TITLE     Mutations in the chromosome pairing gene FKBP6 are not a common
            cause of non-obstructive azoospermia
  JOURNAL   Mol. Hum. Reprod. 11 (9), 673-675 (2005)
   PUBMED   16227348
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (residues 1 to 327)
  AUTHORS   Zhang,W., Zhang,S.Z., Xiao,C.Y., Yang,Y., Ma,Y.X., Cheng,L.,
            A,Z.C., He,G.P. and Shi,J.J.
  TITLE     [Possible association between 278C/A single nucleotide polymorphism
            of FKBP6 and idiopathic azoospermia]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22 (1), 10-13 (2005)
   PUBMED   15696470
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (residues 1 to 327)
  AUTHORS   Schiene-Fischer,C. and Yu,C.
  TITLE     Receptor accessory folding helper enzymes: the functional role of
            peptidyl prolyl cis/trans isomerases
  JOURNAL   FEBS Lett. 495 (1-2), 1-6 (2001)
   PUBMED   11322937
  REMARK    Review article
REFERENCE   6  (residues 1 to 327)
  AUTHORS   Peoples,R., Franke,Y., Wang,Y.K., Perez-Jurado,L., Paperna,T.,
            Cisco,M. and Francke,U.
  TITLE     A physical map, including a BAC/PAC clone contig, of the
            Williams-Beuren syndrome--deletion region at 7q11.23
  JOURNAL   Am. J. Hum. Genet. 66 (1), 47-68 (2000)
   PUBMED   10631136
REFERENCE   7  (residues 1 to 327)
  AUTHORS   Meng,X., Lu,X., Morris,C.A. and Keating,M.T.
  TITLE     A novel human gene FKBP6 is deleted in Williams syndrome
  JOURNAL   Genomics 52 (2), 130-137 (1998)
   PUBMED   9782077
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB033483.1, BC036817.1 and
            DB525126.1.
            On May 3, 2007 this sequence version replaced gi:17149849.
            
            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. The protein may have cis-trans prolyl isomerase
            activity, and binds to clathrin heavy chain and heat shock protein
            72. This gene is found to be deleted in Williams syndrome, and the
            orthologous gene in mouse is essential for fertility and homologous
            pairing in male meiosis. [provided by RefSeq].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
FEATURES             Location/Qualifiers
     source          1..327
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     Protein         1..327
                     /product="FK506 binding protein 6 isoform a"
                     /EC_number="5.2.1.8"
                     /note="FK506 binding protein 6 (36kD); FK506-binding
                     protein 6 (36kD); peptidylprolyl cis-trans isomerase;
                     rotamase; immunophilin FKBP36"
                     /calculated_mol_wt=37083
     CDS             1..327
                     /gene="FKBP6"
                     /gene_synonym="FKBP36"
                     /gene_synonym="PPIase"
                     /gene_synonym="MGC87179"
                     /coded_by="NM_003602.3:133..1116"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS43595.1"
                     /db_xref="GeneID:8468"
                     /db_xref="HGNC:3722"
                     /db_xref="HPRD:05326"
                     /db_xref="MIM:604839"
ORIGIN      
        1 mggsalnqgv legddapgqs lyerlsqrml disgdrgvlk dviregagdl vapdasvlvk
       61 ysgylehmdr pfdsnyfrkt prlmklgedi tlwgmelgll smrrgelarf lfkpnyaygt
      121 lgcpplippn ttvlfeiell dfldcaesdk fcalsaeqqd qfplqkvlkv aaterefgny
      181 lfrqnrfyda kvrykralll lrrrsappee qhlveaaklp vllnlsftyl kldrptialc
      241 ygeqaliidq knakalfrcg qaclllteyq kardflvraq keqpfnhdin nelkklascy
      301 rdyvdkekem whrmfapcgd gstages
//