O75344 (FKBP6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Peptidyl-prolyl cis-trans isomerase FKBP6
Short name=PPIase FKBP6
EC=5.2.1.8

Alternative name(s):
36 kDa FK506-binding protein
Short name=36 kDa FKBP
Short name=FKBP-36
FK506-binding protein 6
Short name=FKBP-6
Immunophilin FKBP36
Rotamase

Gene names

Name:	FKBP6
Synonyms:	FKBP36

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	327 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	PPIases accelerate the folding of proteins.
Catalytic activity	Peptidylproline (omega=180) = peptidylproline (omega=0).
Tissue specificity	Detected in all tissues examined, with higher expression in testis, heart, skeletal muscle, liver, and kidney.
Involvement in disease	FKBP6 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of FKBP6 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.
Sequence similarities	Contains 1 PPIase FKBP-type domain. Contains 3 TPR repeats.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
Disease	Williams-Beuren syndrome
Domain	Repeat TPR repeat
Molecular function	Isomerase Rotamase
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	pachytene Inferred from electronic annotation. Source: Compara protein folding Traceable author statement Ref.1. Source: ProtInc spermatogenesis Inferred from electronic annotation. Source: Compara
Cellular_component	membrane Inferred from Biological aspect of Ancestor. Source: RefGenome
Molecular_function	FK506 binding Inferred from Biological aspect of Ancestor. Source: RefGenome peptidyl-prolyl cis-trans isomerase activity Inferred from Biological aspect of Ancestor. Source: RefGenome
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O75344-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: O75344-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-19: MGGSALNQGVLEGDDAPGQ → MSASSWPQNGMPPS

Note: No experimental confirmation available.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 327

327

Peptidyl-prolyl cis-trans isomerase FKBP6

PRO_0000075329

Regions

Domain

54 – 143

90

PPIase FKBP-type

Repeat

171 – 204

34

TPR 1

Repeat

219 – 252

34

TPR 2

Repeat

253 – 286

34

TPR 3

Natural variations

Alternative sequence

1 – 19

19

MGGSA…DAPGQ → MSASSWPQNGMPPS in isoform 2.

VSP_042038

Secondary structure

1

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327

Helix Strand Turn

Details...

Helix

21 – 25

5

Turn

26 – 28

3

Beta strand

30 – 44

15

Beta strand

47 – 50

4

Beta strand

56 – 64

9

Beta strand

72 – 74

3

Helix

93 – 100

8

Beta strand

107 – 112

6

Helix

114 – 116

3

Turn

117 – 121

5

Turn

124 – 126

3

Beta strand

133 – 143

11

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 1, 1998. Version 1. Checksum: C137FA629B676623	FASTA	327	37,214
	10 20 30 40 50 60 MGGSALNQGV LEGDDAPGQS LYERLSQRML DISGDRGVLK DVIREGAGDL VAPDASVLVK 70 80 90 100 110 120 YSGYLEHMDR PFDSNYFRKT PRLMKLGEDI TLWGMELGLL SMRRGELARF LFKPNYAYGT 130 140 150 160 170 180 LGCPPLIPPN TTVLFEIELL DFLDCAESDK FCALSAEQQD QFPLQKVLKV AATEREFGNY 190 200 210 220 230 240 LFRQNRFYDA KVRYKRALLL LRRRSAPPEE QHLVEAAKLP VLLNLSFTYL KLDRPTIALC 250 260 270 280 290 300 YGEQALIIDQ KNAKALFRCG QACLLLTEYQ KARDFLVRAQ KEQPFNHDIN NELKKLASCY 310 320 RDYVDKEKEM WHRMFAPCGD GSTAGES
	Isoform 2 [UniParc]. Checksum: C3C697A7F1962706	FASTA	322	36,874
	10 20 30 40 50 60 MSASSWPQNG MPPSSLYERL SQRMLDISGD RGVLKDVIRE GAGDLVAPDA SVLVKYSGYL 70 80 90 100 110 120 EHMDRPFDSN YFRKTPRLMK LGEDITLWGM ELGLLSMRRG ELARFLFKPN YAYGTLGCPP 130 140 150 160 170 180 LIPPNTTVLF EIELLDFLDC AESDKFCALS AEQQDQFPLQ KVLKVAATER EFGNYLFRQN 190 200 210 220 230 240 RFYDAKVRYK RALLLLRRRS APPEEQHLVE AAKLPVLLNL SFTYLKLDRP TIALCYGEQA 250 260 270 280 290 300 LIIDQKNAKA LFRCGQACLL LTEYQKARDF LVRAQKEQPF NHDINNELKK LASCYRDYVD 310 320 KEKEMWHRMF APCGDGSTAG ES

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A novel human gene FKBP6 is deleted in Williams syndrome." Meng X., Lu X., Morris C.A., Keating M.T. Genomics 52:130-137(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Testis.
[2]	"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. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Testis.
[3]	"The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K. Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AF038847 mRNA. Translation: AAC64249.1.
AK302121 mRNA. Translation: BAG63499.1.
BC036817 mRNA. Translation: AAH36817.1.
AC005049 Genomic DNA. No translation available.
AC073841 Genomic DNA. No translation available.
CH471200 Genomic DNA. Translation: EAW69686.1.

IPI

IPI00025280.

RefSeq

NP_001128683.1. NM_001135211.1.
NP_003593.3. NM_003602.3.

UniGene

Hs.661266.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
3B7X	X-ray	2.10	A	12-144	[»]

ProteinModelPortal

O75344.

ModBase

Search...

Protein-protein interaction databases

IntAct

O75344. 2 interactions.

MINT

MINT-1460144.

STRING

9606.ENSP00000252037.

PTM databases

PhosphoSite

O75344.

Proteomic databases

PaxDb

O75344.

PRIDE

O75344.

Protocols and materials databases

DNASU

8468.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000252037; ENSP00000252037; ENSG00000077800.
ENST00000431982; ENSP00000416277; ENSG00000077800.
ENST00000572911; ENSP00000458784; ENSG00000262532.
ENST00000574089; ENSP00000459768; ENSG00000262532.

GeneID

8468.

KEGG

hsa:8468.

UCSC

uc003tya.2. human.

Organism-specific databases

CTD

8468.

GeneCards

GC07P072742.

H-InvDB

HIX0006777.
HIX0078779.
HIX0114828.

HGNC

HGNC:3722. FKBP6.

HPA

HPA043046.

MIM

604839. gene.

neXtProt

NX_O75344.

Orphanet

904. Williams syndrome.

PharmGKB

PA28163.

GenAtlas

Search...

Phylogenomic databases

eggNOG

COG0545.

HOGENOM

HOG000251594.

HOVERGEN

HBG051625.

InParanoid

O75344.

KO

K09572.

OMA

EREMCHR.

OrthoDB

EOG4255T5.

PhylomeDB

O75344.

Enzyme and pathway databases

Reactome

REACT_111183. Meiosis.
REACT_115566. Cell Cycle.

Gene expression databases

ArrayExpress

O75344.

Bgee

O75344.

CleanEx

HS_FKBP6.

Genevestigator

O75344.

Family and domain databases

Gene3D

1.25.40.10. 1 hit.

InterPro

IPR023566. PPIase_FKBP.
IPR001179. PPIase_FKBP_dom.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical.
[Graphical view]

PANTHER

PTHR10516. PTHR10516. 1 hit.

Pfam

PF00254. FKBP_C. 1 hit.
[Graphical view]

PROSITE

PS50059. FKBP_PPIASE. 1 hit.
PS50005. TPR. False negative.
PS50293. TPR_REGION. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

FKBP6. human.

EvolutionaryTrace

O75344.

GenomeRNAi

8468.

NextBio

31692.

SOURCE

Search...

Entry information

Entry name

FKBP6_HUMAN

Accession

Primary (citable) accession number: O75344
Secondary accession number(s): B4DXT7, Q9UDS0

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 21, 2001
Last sequence update:	November 1, 1998
Last modified:	May 1, 2013
This is version 119 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.