Reviewed, UniProtKB/Swiss-Prot O75344 (FKBP6_HUMAN)

Names and origin

Protein names

Recommended name:
    FK506-binding protein 6
    EC=5.2.1.8
Alternative name(s):
    Peptidyl-prolyl cis-trans isomerase
      Short name=PPIase
      Short name=Rotamase
    36 kDa FK506-binding protein
    FKBP-36
    Immunophilin FKBP36

Gene names

Name:	FKBP6
Synonyms:	FKBP36

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	327 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
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	Haploinsufficiency of FKBP6 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in Williams-Beuren syndrome (WBS) [MIM:194050]; a rare developmental disorder. It is a contiguous gene deletion syndrome involving genes from chromosome band 7q11.23.
Sequence similarities	Contains 1 PPIase FKBP-type domain. Contains 3 TPR repeats.

Ontologies

Keywords
Disease	Williams-Beuren syndrome
Domain	Repeat TPR repeat
Molecular function	Isomerase Rotamase
Technical term	3D-structure
Gene Ontology (GO)
Biological process	protein folding Ref.1 Traceable author statement. Source: ProtInc
Molecular function	FK506 binding Ref.1 Traceable author statement. Source: ProtInc peptidyl-prolyl cis-trans isomerase activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 327

327

FK506-binding protein 6

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

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

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

Sequences

	Sequence		Length	Mass (Da)
	O75344-1 [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

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: 9782077] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Testis.
[2]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBLGenBankDDBJ

AF038847 mRNA. Translation: AAC64249.1.
BC036817 mRNA. Translation: AAH36817.1.

RefSeq

NP_003593.3.

UniGene

Hs.661266

3D structure databases

PDBMSD

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

ModBase

Search...

Protein-protein interaction databases

IntAct

O75344.

PTM databases

PhosphoSite

O75344.

Genome annotation databases

Ensembl

ENSG00000077800. Homo sapiens. [Contig view]

GeneID

8468.

KEGG

hsa:8468.

Organism-specific databases

HGNC

HGNC:3722. FKBP6.

MIM

194050. phenotype.
604839. gene.

Orphanet

904. Williams syndrome.

PharmGKB

PA28163.

GenAtlas

Search...

GeneCards

Search...

Phylogenomic databases

HOGENOM

O75344.

HOVERGEN

O75344.

Gene expression databases

ArrayExpress

O75344.

CleanEx

HS_FKBP6.

Family and domain databases

InterPro

IPR001179. PPIase_FKBP.
IPR011990. TPR-like_helical.
IPR013105. TPR_2.
IPR013026. TPR_region.
[Graphical view]

Gene3D

G3DSA:1.25.40.10. TPR-like_helical. 1 hit.

PANTHER

PTHR10516. PPIase_FKBP. 1 hit.

Pfam

PF00254. FKBP_C. 1 hit.
PF07719. TPR_2. 1 hit.
[Graphical view]

PROSITE

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

ProtoNet

Search...

Other Resources

LinkHub

O75344.

NextBio

31692.

SOURCE

Search...

Entry information

Entry name

FKBP6_HUMAN

Accession

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

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 21, 2001
Last sequence update:	November 1, 1998
Last modified:	November 25, 2008
This is version 75 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)