Cell Biology Antibodies 1
Anti-POMT1 Antibody (CAB10281)
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- SKU:
- CAB10281
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Description
| Antibody Name: | Anti-POMT1 Antibody |
| Antibody SKU: | CAB10281 |
| Antibody Size: | 20uL, 50uL, 100uL |
| Application: | WB |
| Reactivity: | Human, Mouse |
| Host Species: | Rabbit |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 310-550 of human POMT1 (NP_001070833.1). |
| Application: | WB |
| Recommended Dilution: | WB 1:1000 - 1:2000 |
| Reactivity: | Human, Mouse |
| Positive Samples: | 293T, U-87MG, BT-474, SW480, HeLa, Mouse kidney |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 310-550 of human POMT1 (NP_001070833.1). |
| 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: | VFGK PVPC WLHS HQDT YPMI YENG RGSS HQQQ VTCY PFKD VNNW WIVK DPRR HQLV VSSP PRPV RHGD MVQL VHGM TTRS LNTH DVAA PLSP HSQE VSCY IDYN ISMP AQNL WRLE IVNR GSDT DVWK TILS EVRF VHVN TSAV LKLS GAHL PDWG YRQL EIVG EKLS RGYH GSTV WNVE EHRY GASQ EQRE RERE LHSP AQVD VSRN LSFM ARFS ELQW RMLA LRSD DSEH KYSS SPLE W |
| Gene ID: | 10585 |
| Uniprot: | Q9Y6A1 |
| Cellular Location: | Endoplasmic reticulum membrane, Multi-pass membrane protein |
| Calculated MW: | 69kDa/76kDa/82kDa/84kDa |
| Observed MW: | 63kDa |
| Synonyms: | POMT1, LGMD2K, MDDGA1, MDDGB1, MDDGC1, RT |
| Background: | The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene. |
| UniProt Protein Function: | POMT1: Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient. Defects in POMT1 are the cause of muscular dystrophy- dystroglycanopathy congenital with mental retardation type B1 (MDDGB1); also called muscular dystrophy congenital POMT1-related. MDDGB1 is an autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities. Defects in POMT1 are the cause of muscular dystrophy- dystroglycanopathy congenital with brain and eye anomalies type A1 (MDDGA1); also known as hydrocephalus-agyria-retinal dysplasia or HARD syndrome. MDDGA1 is an autosomal recessive disorder characterized by cobblestone lissencephaly, hydrocephalus, agyria, retinal displasia, with or without encephalocele. It is often associated with congenital muscular dystrophy and usually lethal within the first few months of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. Defects in POMT1 are the cause of muscular dystrophy- dystroglycanopathy limb-girdle type C1 (MDDGC1); also called autosomal recessive limb-girdle muscular dystrophy with mental retardation. MDDGC1 is a novel form of recessive limb girdle muscular dystrophy with mild mental retardation without any obvious structural brain abnormality, associated with an abnormal alpha-dystroglycan pattern in the muscle. MDDGC1 is a significantly milder allelic form of WWS. Belongs to the glycosyltransferase 39 family. 4 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:EC 2.4.1.109; Glycan Metabolism - O-mannosyl glycan biosynthesis; Membrane protein, multi-pass; Membrane protein, integral; Transferase Chromosomal Location of Human Ortholog: 9q34.1 Cellular Component: endoplasmic reticulum; endoplasmic reticulum membrane Molecular Function:dolichyl-phosphate-mannose-protein mannosyltransferase activity; mannosyltransferase activity Biological Process: carbohydrate metabolic process; cell wall mannoprotein biosynthetic process; multicellular organismal development; protein amino acid O-linked glycosylation Disease: Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 1; Muscular Dystrophy-dystroglycanopathy (congenital With Mental Retardation), Type B, 1; Muscular Dystrophy-dystroglycanopathy (limb-girdle), Type C, 1 |
| NCBI Summary: | The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008] |
| UniProt Code: | Q9Y6A1 |
| NCBI GenInfo Identifier: | 332278226 |
| NCBI Gene ID: | 10585 |
| NCBI Accession: | Q9Y6A1.3 |
| UniProt Secondary Accession: | Q9Y6A1,Q5JT01, Q5JT06, Q5JT08, Q8NC91, Q8TCA9, Q9NX32 Q9NX82, Q9UNT2, B3KQG0, B4DIF0, |
| UniProt Related Accession: | Q9Y6A1 |
| Molecular Weight: | 69,531 Da |
| NCBI Full Name: | Protein O-mannosyl-transferase 1 |
| NCBI Synonym Full Names: | protein O-mannosyltransferase 1 |
| NCBI Official Symbol: | POMT1 |
| NCBI Official Synonym Symbols: | RT; LGMD2K; MDDGA1; MDDGB1; MDDGC1 |
| NCBI Protein Information: | protein O-mannosyl-transferase 1 |
| UniProt Protein Name: | Protein O-mannosyl-transferase 1 |
| UniProt Synonym Protein Names: | Dolichyl-phosphate-mannose--protein mannosyltransferase 1 |
| Protein Family: | Protein O-mannosyl-transferase |
| UniProt Gene Name: | POMT1 |
| UniProt Entry Name: | POMT1_HUMAN |
 | Western blot analysis of extracts of various cell lines, using POMT1 antibody (CAB10281) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 5s. |
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