Q96AY3 (FKB10_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Peptidyl-prolyl cis-trans isomerase FKBP10
Short name=PPIase FKBP10
EC=5.2.1.8

Alternative name(s):
65 kDa FK506-binding protein
Short name=65 kDa FKBP
Short name=FKBP-65
FK506-binding protein 10
Short name=FKBP-10
Immunophilin FKBP65
Rotamase

Gene names

Name:	FKBP10
Synonyms:	FKBP65
ORF Names:	PSEC0056

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	582 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	PPIases accelerate the folding of proteins during protein synthesis.
Catalytic activity	Peptidylproline (omega=180) = peptidylproline (omega=0).
Enzyme regulation	Inhibited by both FK506 and rapamycin, but not by cyclosporin A By similarity.
Subcellular location	Endoplasmic reticulum lumen By similarity.
Post-translational modification	Glycosylated and phosphorylated By similarity.
Involvement in disease	Defects in FKBP10 are the cause of osteogenesis imperfecta type 6 (OI6) [MIM:610968]. OI6 is a moderate to severe, autosomal recessive form of osteogenesis imperfecta characterized by increased serum alkaline phosphatase levels and bone histology exhibiting a fish scale-like lamellar pattern. Osteogenesis imperfecta defines a group of connective tissue disorders characterized by bone fragility and low bone mass. Ref.9
Sequence similarities	Contains 2 EF-hand domains. Contains 4 PPIase FKBP-type domains.
Sequence caution	The sequence BAB15220.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence CAD97695.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum
Coding sequence diversity	Polymorphism
Disease	Disease mutation Osteogenesis imperfecta
Domain	Repeat Signal
Ligand	Calcium
Molecular function	Isomerase Rotamase
PTM	Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	protein folding Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	endoplasmic reticulum lumen Inferred from electronic annotation. Source: UniProtKB-SubCell membrane Inferred from Biological aspect of Ancestor. Source: RefGenome
Molecular function	FK506 binding Inferred from Biological aspect of Ancestor. Source: RefGenome calcium ion binding Inferred from electronic annotation. Source: InterPro peptidyl-prolyl cis-trans isomerase activity Inferred from Biological aspect of Ancestor. Source: RefGenome
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 26	26	Potential
	Chain	27 – 582	556	Peptidyl-prolyl cis-trans isomerase FKBP10		PRO_0000025517
Regions
	Domain	62 – 150	89	PPIase FKBP-type 1
	Domain	174 – 262	89	PPIase FKBP-type 2
	Domain	286 – 374	89	PPIase FKBP-type 3
	Domain	399 – 486	88	PPIase FKBP-type 4
	Domain	497 – 532	36	EF-hand 1
	Domain	542 – 577	36	EF-hand 2
	Calcium binding	510 – 521	12	1 Potential
	Calcium binding	555 – 566	12	2 Potential
	Motif	579 – 582	4	Prevents secretion from ER Potential
Amino acid modifications
	Glycosylation	70	1	N-linked (GlcNAc...) Potential
	Glycosylation	182	1	N-linked (GlcNAc...) Ref.6 Ref.7
	Glycosylation	294	1	N-linked (GlcNAc...) Potential
	Glycosylation	310	1	N-linked (GlcNAc...) Potential
	Glycosylation	352	1	N-linked (GlcNAc...) Potential
	Glycosylation	393	1	N-linked (GlcNAc...) Potential
	Glycosylation	407	1	N-linked (GlcNAc...) Ref.6
Natural variations
	Natural variant	107 – 117	11	Missing in OI6.		VAR_063601
	Natural variant	197	1	K → R. Corresponds to variant rs34764749 [ dbSNP | Ensembl ].		VAR_050625
Experimental info
	Sequence conflict	190	1	S → F in BAB20974. Ref.2
	Sequence conflict	456	1	V → L in CAD97695. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q96AY3 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: 98257459158407C2	FASTA	582	64,245
	10 20 30 40 50 60 MFPAGPPSHS LLRLPLLQLL LLVVQAVGRG LGRASPAGGP LEDVVIERYH IPRACPREVQ 70 80 90 100 110 120 MGDFVRYHYN GTFEDGKKFD SSYDRNTLVA IVVGVGRLIT GMDRGLMGMC VNERRRLIVP 130 140 150 160 170 180 PHLGYGSIGL AGLIPPDATL YFDVVLLDVW NKEDTVQVST LLRPPHCPRM VQDGDFVRYH 190 200 210 220 230 240 YNGTLLDGTS FDTSYSKGGT YDTYVGSGWL IKGMDQGLLG MCPGERRKII IPPFLAYGEK 250 260 270 280 290 300 GYGTVIPPQA SLVFHVLLID VHNPKDAVQL ETLELPPGCV RRAGAGDFMR YHYNGSLMDG 310 320 330 340 350 360 TLFDSSYSRN HTYNTYIGQG YIIPGMDQGL QGACMGERRR ITIPPHLAYG ENGTGDKIPG 370 380 390 400 410 420 SAVLIFNVHV IDFHNPADVV EIRTLSRPSE TCNETTKLGD FVRYHYNCSL LDGTQLFTSH 430 440 450 460 470 480 DYGAPQEATL GANKVIEGLD TGLQGMCVGE RRQLIVPPHL AHGESGARGV PGSAVLLFEV 490 500 510 520 530 540 ELVSREDGLP TGYLFVWHKD PPANLFEDMD LNKDGEVPPE EFSTFIKAQV SEGKGRLMPG 550 560 570 580 QDPEKTIGDM FQNQDRNQDG KITVDELKLK SDEDEERVHE EL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The human FK506-binding protein repertoire." Rulten S., Kinloch R.A., Robinson C., Gettins L., Kay J.E. Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Brain.
[2]	"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries." Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T. DNA Res. 12:117-126(2005) [PubMed: 16303743] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Teratocarcinoma.
[3]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Endometrial tumor and Uterus.
[4]	"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.
[5]	"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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 82-582.
[6]	"Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry." Zhang H., Li X.-J., Martin D.B., Aebersold R. Nat. Biotechnol. 21:660-666(2003) [PubMed: 12754519] [Abstract] Cited for: GLYCOSYLATION AT ASN-182 AND ASN-407.
[7]	"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry." Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H. J. Proteome Res. 8:651-661(2009) [PubMed: 19159218] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-182, MASS SPECTROMETRY. Tissue: Liver.
[8]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]	"Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta." Alanay Y., Avaygan H., Camacho N., Utine G.E., Boduroglu K., Aktas D., Alikasifoglu M., Tuncbilek E., Orhan D., Bakar F.T., Zabel B., Superti-Furga A., Bruckner-Tuderman L., Curry C.J., Pyott S., Byers P.H., Eyre D.R., Baldridge D. , Lee B., Merrill A.E., Davis E.C., Cohn D.H., Akarsu N., Krakow D. Am. J. Hum. Genet. 86:551-559(2010) [PubMed: 20362275] [Abstract] Cited for: VARIANT OI6 MET-107--117-LEU DEL.
+	Additional computationally mapped references.

Web resources

Osteogenesis imperfecta variant database

Peptidyl-prolyl cis-trans isomerase FKBP10

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF337909 mRNA. Translation: AAM15770.1. AB045981 mRNA. Translation: BAB20974.1. BX537452 mRNA. Translation: CAD97695.1. Different initiation. AL133116 mRNA. Translation: CAB61418.1. BC016467 mRNA. Translation: AAH16467.1. AK025694 mRNA. Translation: BAB15220.1. Different initiation.
IPI	IPI00303300.
PIR	T42709.
RefSeq	NP_068758.3. NM_021939.3.
UniGene	Hs.463035.
3D structure databases
ProteinModelPortal	Q96AY3.
SMR	Q96AY3. Positions 45-571.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96AY3. 3 interactions.
STRING	Q96AY3.
Polymorphism databases
DMDM	23396594.
Proteomic databases
PeptideAtlas	Q96AY3.
PRIDE	Q96AY3.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000321562; ENSP00000317232; ENSG00000141756.
GeneID	60681.
KEGG	hsa:60681.
UCSC	uc002hxv.2. human.
Organism-specific databases
CTD	60681.
GeneCards	GC17P039968.
H-InvDB	HIX0013820.
HGNC	HGNC:18169. FKBP10.
MIM	607063. gene. 610968. phenotype.
neXtProt	NX_Q96AY3.
Orphanet	216828. Osteogenesis imperfecta type 5.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00530000062784.
HOGENOM	HBG444846.
HOVERGEN	HBG051620.
InParanoid	Q96AY3.
OrthoDB	EOG4D52XH.
PhylomeDB	Q96AY3.
Gene expression databases
ArrayExpress	Q96AY3.
Bgee	Q96AY3.
CleanEx	HS_FKBP10.
Genevestigator	Q96AY3.
GermOnline	ENSG00000141756. Homo sapiens.
Family and domain databases
InterPro	IPR011992. EF-hand-like_dom. IPR018247. EF_Hand_1_Ca_BS. IPR018249. EF_HAND_2. IPR002048. EF_hand_Ca-bd. IPR001179. PPIase_FKBP_dom. [Graphical view]
Gene3D	G3DSA:1.10.238.10. EF-Hand_type. 2 hits.
KO	K09575.
Pfam	PF00254. FKBP_C. 4 hits. [Graphical view]
SMART	SM00054. EFh. 2 hits. [Graphical view]
PROSITE	PS00018. EF_HAND_1. 1 hit. PS50222. EF_HAND_2. 2 hits. PS00014. ER_TARGET. 1 hit. PS50059. FKBP_PPIASE. 4 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	65504.
SOURCE	Search...

Entry information

Entry name

FKB10_HUMAN

Accession

Primary (citable) accession number: Q96AY3
Secondary accession number(s): Q7Z3R4 , Q9H3N3, Q9H6N5, Q9UF89

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 19, 2002
Last sequence update:	December 1, 2001
Last modified:	January 25, 2012
This is version 104 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.