FKBP10 - FKBP prolyl isomerase 10 Gene

Also Known as OI6; OI11; BRKS1; FKBP65; PPIASE; hFKBP65

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 60681

About FKBP10

Cytogenetic location: 17q21.2 Genomic coordinates (GRCh38): 17:41,813,004-41,823,213 (from NCBI)

This gene has 9 transcripts (splice variants), 272 orthologues, 18 paralogues and is associated with 6 phenotypes. Ubiquitous expression in placenta (RPKM 31.0), endometrium (RPKM 25.7) and 22 other tissues.

Summary

The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone. Alternatively spliced variants encoding different isoforms have been reported, but their biological validity has not been determined.[provided by RefSeq, Nov 2009]

FKBP10 Products (1)

mRNA Protein Name
NM_021939.4 NP_068758.3 peptidyl-prolyl cis-trans isomerase FKBP10 precursor
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32814053 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
28774593 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FKBP10 Protein Structure

FKBP_C

FKBP_C: FKBP-type peptidyl-prolyl cis-trans isomerase (55 - 147)

FKBP_C

FKBP_C: FKBP-type peptidyl-prolyl cis-trans isomerase (167 - 258)

FKBP_C

FKBP_C: FKBP-type peptidyl-prolyl cis-trans isomerase (281 - 371)

FKBP_C

FKBP_C: FKBP-type peptidyl-prolyl cis-trans isomerase (393 - 483)

EF-hand_5

EF-hand_5: EF hand (505 - 525)

EF-hand_5

EF-hand_5: EF hand (549 - 568)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 582 a.a.
Protein Preferred Names Protein Names

peptidyl-prolyl cis-trans isomerase FKBP10

  • 65 kDa FK506-binding protein

Related Diseases

Diseases Alias
Bruck Syndrome 1
  • Kuskokwim Disease

  • Kuskokwim Syndrome

  • BRKS1

  • Arthrogryposis-Like Disorder

  • Arthrogryposis-Like Syndrome

  • Osteogenesis Imperfecta With Congenital Joint Contractures

  • Bruck Syndrome-1

  • Arthrogryposis Like Disorder

  • Bruck Syndrome, Type 1

Osteogenesis Imperfecta, Type Xi
  • Osteogenesis Imperfecta Type 11

  • OI11

  • Osteogenesis Imperfecta Type Xi

  • Oi, Type Xi

  • Osteogenesis Imperfecta 11

  • Oi Type Xi

  • Oi-Xi

Bruck Syndrome
  • Osteogenesis Imperfecta With Congenital Joint Contractures

  • Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome

Osteogenesis Imperfecta, Type Xii
  • Osteogenesis Imperfecta Type 12

  • OI12

  • Osteogenesis Imperfecta Type Xii

  • Oi, Type Xii

  • Osteogenesis Imperfecta 12

  • Oi Type Xii

  • Oi-Xii

  • Osteogenesis Imperfecta Sillence Type Iii

Osteogenesis Imperfecta, Type Iii
  • Osteogenesis Imperfecta Type Iii

  • OI3

  • Oi, Type Iii

  • Osteogenesis Imperfecta Type 3

  • Oi Type Iii

  • Oi Type 3

  • Progressive Deforming Osteogenesis Imperfecta

  • Severe Osteogenesis Imperfecta

  • Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae

  • Progressively Deforming Osteogenesis Imperfecta With Normal Sclera

  • Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae

  • Progressively Deforming Oi

  • Osteogenesis Imperfecta 3

  • Oi-Iii

  • Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae

Osteogenesis Imperfecta, Type Iv
  • Osteogenesis Imperfecta Type 4

  • Osteogenesis Imperfecta Type Iv

  • OI4

  • Oi, Type Iv

  • Osteogenesis Imperfecta With Normal Sclerae

  • Oi Type Iv

  • Oi Type 4

  • Osteogenesis Imperfecta With Normal Sclera

  • Common Variable Oi With Normal Sclerae

  • Osteogenesis Imperfecta 4

  • Oi-Iv

Brittle Bone Disorder
  • Osteogenesis Imperfecta

  • Brittle Bone Disease

  • Fragilitas Ossium

  • Osteopsathyrosis

  • Lobstein Disease

  • Oi

  • Vrolik Disease

  • Lobstein'S Disease

  • Lobstein'S Syndrome

  • Vrolik'S Disease

  • Porak And Durante Disease

  • Glass Bone Disease

  • Osteogenesis Imperfecta, Dominant Perinatal Lethal

  • Osteogenesis Imperfecta, Recessive Perinatal Lethal

  • Brittle Bone Syndrome

  • Oi - [Osteogenesis Imperfecta]

  • Ossium Fragility

  • Osteitis Fragilitans

  • Bony Fragility

  • Blue Sclera With Fragility Of Bone And Deafness

  • White Blue Sclera - Fragility Of Bone - Deafness

Dentinogenesis Imperfecta
  • Hereditary Opalescent Dentin

  • Dentinogenesis Imperfecta Without Osteogenesis Imperfecta

  • Dgi

  • Capdepont Teeth

  • Dgi Without Oi

  • Di

  • Non-Syndromic Dgi

  • Non-Syndromic Dentinogenesis Imperfecta

  • Opalescent Teeth Without Oi

  • Opalescent Teeth Without Osteogenesis Imperfecta

  • Opalescent Dentin

Achondrogenesis, Type Ia
  • Achondrogenesis Type Ia

  • Achondrogenesis Type 1a

  • ACG1A

  • Achondrogenesis, Houston-Harris Type

  • Achondrogenesis Houston-Harris Type

  • Achondrogenesis 1a

  • Acg-Ia

Cole-Carpenter Syndrome
  • Cole Carpenter Syndrome

  • Bone Fragility Craniosynostosis Proptosis Hydrocephalus

  • Bone Fragility With Craniosynostosis, Ocular Proptosis, Hydrocephalus, And Distinctive Facial Features

  • Bone Fragility-Craniosynostosis-Proptosis-Hydrocephalus Syndrome

Osteogenesis Imperfecta, Type Ii
  • Vrolik Type Of Osteogenesis Imperfecta

  • Osteogenesis Imperfecta Type 2

  • OI2

  • Oi, Type Ii

  • Osteogenesis Imperfecta Congenita

  • Oic

  • Osteogenesis Imperfecta Type Ii

  • Lethal Osteogenesis Imperfecta

  • Oi Type 2

  • Osteogenesis Imperfecta Congenita Perinatal Lethal Form

  • Osteogenesis Imperfecta Congenita, Perinatal Lethal Form

  • Perinatal Lethal Osteogenesis Imperfecta Congenita

  • Perinatally Lethal Oi

  • Osteogenesis Imperfecta 2

  • Oi-Ii

  • Oi-Iia

  • Oi Type Iia

  • Osteogenesis Imperfecta Type Iia

  • Osteogenesis Imperfecta Type Ii Autosomal Dominant

  • Oi Type Ii

  • Osteogenesis Imperfecta, Dominant Perinatal Lethal

Osteogenesis Imperfecta, Type Xix
  • OI19

  • Osteogenesis Imperfecta Type 19

  • Osteogenesis Imperfecta Type Xix

  • Osteogenesis Imperfecta, Type 19

  • Osteogenesis Imperfecta 19

Osteogenesis Imperfecta, Type Xiv
  • Osteogenesis Imperfecta Type 14

  • OI14

  • Osteogenesis Imperfecta Type Xiv

  • Oi, Type Xiv

  • Osteogenesis Imperfecta 14

  • Oi Type Xiv

  • Oi-Xiv

Bone Development Disease
Ehlers-Danlos Syndrome, Classic Type, 1
  • Ehlers-Danlos Syndrome, Type I

  • EDSCL1

  • Ehlers-Danlos Syndrome Classic Type 1

  • Ehlers-Danlos Syndrome Type 1

  • Ehlers-Danlos Syndrome, Type I, Formerly

  • Eds1, Formerly

  • Ehlers-Danlos Syndrome, Severe Classic Type, Formerly

  • Eds I, Formerly

  • Ehlers-Danlos Syndrome, Gravis Type, Formerly

  • Ehlers-Danlos Syndrome, Type 1

  • Type I Ehlers-Danlos Syndrome

  • Eds1

  • Eds I

  • Ehlers-Danlos Syndrome, Gravis Type

  • Ehlers-Danlos Syndrome, Severe Classic Type

  • Ehlers-Danlos Syndrome 1

  • Ehlers-Danlos, Classic Syndrome, Type 1

  • Ehlers-Danlos Syndrome Type 2

Caffey Disease
  • Infantile Cortical Hyperostosis

  • CAFYD

  • Cortical Congenital Hyperostosis

  • Caffey-Silverman Syndrome

  • De Toni-Caffey Disease

  • Hyperostosis Cortical Infantile

  • Hyperostosis, Cortical, Congenital

Scoliosis
Supravalvular Aortic Stenosis
  • SVAS

  • Supravalvar Aortic Stenosis

  • Supravalvar Aortic Stenosis, Eisenberg Type

  • Aortic Supravalvular Stenosis

  • Aortic Stenosis, Supravalvular

  • Supra-Valvular Aortic Stenosis

  • Stenosis, Aortic Supravalvular

  • Stenosis, Supravalvular Aortic

  • Supravalvular Stenosis, Aortic

  • Aortic Stenosis Supravalvular

Osteogenesis Imperfecta, Type I
  • Osteogenesis Imperfecta Type I

  • OI1

  • Oi, Type I

  • Osteogenesis Imperfecta Tarda

  • Osteogenesis Imperfecta With Blue Sclerae

  • Osteogenesis Imperfecta Type 1

  • Adair-Dighton Syndrome

  • Mild Osteogenesis Imperfecta

  • Non-Deforming Osteogenesis Imperfecta

  • Oi Type 1

  • Van Der Hoeve Syndrome

  • Classic Non-Deforming Oi With Blue Sclerae

  • Osteogenesis Imperfecta 1

  • Oi-I

  • Osteopenic Non-Fracture Syndrome

  • Osteogenesis Imperfecta, Mild

  • Osteogenesis Imperfecta

  • Lobstein'S Disease

Osteochondrodysplasia
  • Skeletal Dysplasia

  • Chondrodystrophy

  • Congenital Anomaly Of Cartilage

  • Osteochondrodysplasias

  • Cartilage Development Disorder

  • Osteochondrodysplasia Syndrome

  • Dysplasia, Skeletal

  • Mucopolysaccharidosis Iv

Osteoporosis, Juvenile
  • Idiopathic Juvenile Osteoporosis

  • Idiopathic Osteoporosis

  • Juvenile Osteoporosis

  • Ijo

Keratosis Follicularis Spinulosa Decalvans
  • Kfsd

  • Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi

  • Keratosis Follicularis Spinulosa Decalvans, X-Linked

  • Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

Williams-Beuren Syndrome
  • Williams Syndrome

  • WBS

  • Wms

  • Deletion 7q11.23

  • Monosomy 7q11.23

  • Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

  • Fanconi Schlesinger Syndrome

  • Beuren Syndrome

  • Elfin Facies Syndrome

  • Elfin Facies With Hypercalcemia

  • Hypercalcemia-Supravalvar Aortic Stenosis

  • Ws

Ehlers-Danlos Syndrome
  • Eds

  • Cutis Hyperelastica

  • Elastic Skin

  • Ehlers-Danlos Syndromes

  • Ed Syndrome

  • Ehlers Danlos Syndrome

  • Ehlers Danlos Disease

  • Eds - [Ehlers-Danlos Syndrome]

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus FKBP10 RGD RGD:1549751
Felis catus FKBP10 VGNC VGNC:62277
Canis familiaris FKBP10 VGNC VGNC:55564
Macaca mulatta FKBP10 VGNC VGNC:99152
Bos taurus FKBP10 VGNC VGNC:29017
Mus musculus FKBP10 MGD MGI:104769
Others FKBP10 NCBI