Cell Biology Antibodies 7
Anti-WFS1 Antibody (CAB1705)
- SKU:
- CAB1705
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Description
Antibody Name: | Anti-WFS1 Antibody |
Antibody SKU: | CAB1705 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB IF |
Reactivity: | Human, Mouse |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-285 of human WFS1 (NP_001139325.1). |
Application: | WB IF |
Recommended Dilution: | WB 1:500 - 1:2000 IF 1:50 - 1:200 |
Reactivity: | Human, Mouse |
Positive Samples: | MCF7, HeLa, Mouse heart, Mouse brain |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-285 of human WFS1 (NP_001139325.1). |
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: | MDSN TAPL GPSC PQPP PAPQ PQAR SRLN ATAS LEQE RSER PRAP GPQA GPGP GVRD AAAP AEPQ AQHT RSRE RADG TGPT KGDM EIPF EEVL ERAK AGDP KAQT EVGK HYLQ LAGD TDEE LNSC TAVD WLVL AAKQ GRRE AVKL LRRC LADR RGIT SENE REVR QLSS ETDL ERAV RKAA LVMY WKLN PKKK KQVA VAEL LENV GQVN EHDG GAQP GPVP KSLQ KQRR MLER LVSS ESKN YIAL DDFV EITK KYAK GVIP SSLF LQDD EDDD ELAG KSPE DLPL R |
Gene ID: | 7466 |
Uniprot: | O76024 |
Cellular Location: | Endoplasmic reticulum membrane, Multi-pass membrane protein |
Calculated MW: | 100kDa |
Observed MW: | 110kDa |
Synonyms: | WFS1, CTRCT41, WFRS, WFS, WFSL, wolframin |
Background: | This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. |
UniProt Protein Function: | WFS1: Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store. Highly expressed in heart followed by brain, placenta, lung and pancreas. Weakly expressed in liver, kidney and skeletal muscle. Also expressed in islet and beta-cell insulinoma cell line. |
UniProt Protein Details: | Protein type:Endoplasmic reticulum; Membrane protein, integral; Membrane protein, multi-pass Chromosomal Location of Human Ortholog: 4p16.1 Cellular Component: endoplasmic reticulum membrane; endoplasmic reticulum; dendrite; integral to endoplasmic reticulum membrane Molecular Function:calmodulin binding; transcription activator binding; transporter activity; ubiquitin protein ligase binding; calcium-dependent protein binding; ATPase binding Biological Process: ER-associated protein catabolic process; protein maturation via protein folding; protein stabilization; olfactory behavior; positive regulation of proteolysis; unfolded protein response; negative regulation of transcription factor activity; glucose homeostasis; positive regulation of protein metabolic process; neurological system process; calcium ion homeostasis; endoplasmic reticulum calcium ion homeostasis; unfolded protein response, activation of signaling protein activity; sensory perception of sound; cellular protein metabolic process; visual perception; positive regulation of protein ubiquitination; negative regulation of programmed cell death; renal water homeostasis; negative regulation of neuron apoptosis; positive regulation of calcium ion transport; kidney development; positive regulation of growth; ER overload response Disease: Deafness, Autosomal Dominant 6; Wolfram Syndrome 1; Wolfram-like Syndrome, Autosomal Dominant; Cataract 41; Diabetes Mellitus, Noninsulin-dependent |
NCBI Summary: | This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009] |
UniProt Code: | O76024 |
NCBI GenInfo Identifier: | 317373289 |
NCBI Gene ID: | 7466 |
NCBI Accession: | O76024.2 |
UniProt Secondary Accession: | O76024,Q8N6I3, Q9UNW6, B2R797, D3DVT1, |
UniProt Related Accession: | O76024 |
Molecular Weight: | 890 |
NCBI Full Name: | Wolframin |
NCBI Synonym Full Names: | Wolfram syndrome 1 (wolframin) |
NCBI Official Symbol: | WFS1 |
NCBI Official Synonym Symbols: | WFS; WFRS; WFSL; CTRCT41 |
NCBI Protein Information: | wolframin |
UniProt Protein Name: | Wolframin |
Protein Family: | Wolframin |
UniProt Gene Name: | WFS1 |
UniProt Entry Name: | WFS1_HUMAN |