Anti-FKBP14 Antibody (CAB13221)
- SKU:
- CAB13221
- Product type:
- Antibody
- Reactivity:
- Human
- Mouse
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Frequently bought together:
Description
Antibody Name: | Anti-FKBP14 Antibody |
Antibody SKU: | CAB13221 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB |
Reactivity: | Human, Mouse, Rat |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 20-211 of human FKBP14 (NP_060416.1). |
Application: | WB |
Recommended Dilution: | WB 1:500 - 1:2000 |
Reactivity: | Human, Mouse, Rat |
Positive Samples: | NCI-H460, HeLa, U-87MG, MCF7, Mouse testis, Rat testis |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 20-211 of human FKBP14 (NP_060416.1). |
Purification Method: | Affinity purification |
Storage Buffer: | Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | ALIP EPEV KIEV LQKP FICH RKTK GGDL MLVH YEGY LEKD GSLF HSTH KHNN GQPI WFTL GILE ALKG WDQG LKGM CVGE KRKL IIPP ALGY GKEG KGKI PPES TLIF NIDL LEIR NGPR SHES FQEM DLND DWKL SKDE VKAY LKKE FEKH GAVV NESH HDAL VEDI FDKE DEDK DGFI SARE FTYK HDEL |
Gene ID: | 55033 |
Uniprot: | Q9NWM8 |
Cellular Location: | Endoplasmic reticulum lumen |
Calculated MW: | 24kDa |
Observed MW: | 22kDa |
Synonyms: | FKBP14, EDSKMH, FKBP22, IPBP12 |
Background: | The protein encoded by this gene is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in this gene are a cause of a type of Ehlers-Danlos syndrome (EDS). Both a protein-coding variant and noncoding variants are transcribed from this gene. |
UniProt Protein Function: | FKBP14: PPIases accelerate the folding of proteins during protein synthesis. Defects in FKBP14 are the cause of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH). A syndrome with features of Ehlers-Danlos syndrome types VIA and VIB on the one hand, and the collagen VI- related congenital myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy on the other hand. Clinically, this disorder is characterized by the following features: severe generalized hypotonia at birth with marked muscle weakness that improve in infancy; early-onset progressive kyphoscoliosis; joint hypermobility without contractures; hyperelastic skin with follicular hyperkeratosis, easy bruising, and occasional abnormal scarring; myopathy as confirmed by muscle MRI, histology, and electron microscopy; hearing impairment, which is predominantly sensorineural; and a normal ratio of lysyl pyridinoline to hydroxylysyl pyridinoline (LP/HP) in urine. |
UniProt Protein Details: | Protein type:Secreted; EC 5.2.1.8; Isomerase; Secreted, signal peptide Chromosomal Location of Human Ortholog: 7p14.3 Cellular Component: endoplasmic reticulum membrane; endoplasmic reticulum lumen Molecular Function:FK506 binding; peptidyl-prolyl cis-trans isomerase activity; calcium ion binding Biological Process: protein peptidyl-prolyl isomerization; cellular protein metabolic process; unfolded protein response, activation of signaling protein activity; unfolded protein response Disease: Ehlers-danlos Syndrome With Progressive Kyphoscoliosis, Myopathy, And Hearing Loss |
NCBI Summary: | The protein encoded by this gene is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in this gene are a cause of a type of Ehlers-Danlos syndrome (EDS). Both a protein-coding variant and noncoding variants are transcribed from this gene. [provided by RefSeq, Mar 2012] |
UniProt Code: | Q9NWM8 |
NCBI GenInfo Identifier: | 23821568 |
NCBI Gene ID: | 55033 |
NCBI Accession: | Q9NWM8.1 |
UniProt Related Accession: | Q9NWM8 |
Molecular Weight: | 24,172 Da |
NCBI Full Name: | Peptidyl-prolyl cis-trans isomerase FKBP14 |
NCBI Synonym Full Names: | FK506 binding protein 14, 22 kDa |
NCBI Official Symbol: | FKBP14 |
NCBI Official Synonym Symbols: | EDSKMH; FKBP22; IPBP12 |
NCBI Protein Information: | peptidyl-prolyl cis-trans isomerase FKBP14; FKBP-22; rotamase; 22 kDa FKBP; PPIase FKBP14; FK506-binding protein 14; 22 kDa FK506-binding protein |
UniProt Protein Name: | Peptidyl-prolyl cis-trans isomerase FKBP14 |
UniProt Synonym Protein Names: | 22 kDa FK506-binding protein; 22 kDa FKBP; FKBP-22; FK506-binding protein 14; FKBP-14; Rotamase |
UniProt Gene Name: | FKBP14 |
UniProt Entry Name: | FKB14_HUMAN |