Cell Biology Antibodies 9
Anti-GNPAT Antibody (CAB4220)
- SKU:
- CAB4220
- Product Type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Cell Biology
Description
Antibody Name: | Anti-GNPAT Antibody |
Antibody SKU: | CAB4220 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB |
Reactivity: | Human |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 481-680 of human GNPAT (NP_055051.1). |
Application: | WB |
Recommended Dilution: | WB 1:1000 - 1:2000 |
Reactivity: | Human |
Positive Samples: | U-87MG, A-549 |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 481-680 of human GNPAT (NP_055051.1). |
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: | YRNQ LLNI FVRP SLVA VALQ MTPG FRKE DVYS CFRF LRDV FADE FIFL PGNT LKDF EEGC YLLC KSEA IQVT TKDI LVTE KGNT VLEF LVGL FKPF VESY QIIC KYLL SEEE DHFS EEQY LAAV RKFT SQLL DQGT SQCY DVLS SDVQ KNAL AACV RLGV VEKK KINN NCIF NVNE PATT KLEE MLGC KTPI GKPA TAKL |
Gene ID: | 8443 |
Uniprot: | O15228 |
Cellular Location: | Matrix side, Peripheral membrane protein, Peroxisome membrane |
Calculated MW: | 69kDa/77kDa |
Observed MW: | 70kDa |
Synonyms: | GNPAT, DAP-AT, DAPAT, DHAPAT, RCDP2 |
Background: | This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for this gene. |
UniProt Protein Function: | GNPAT: Defects in GNPAT are the cause of rhizomelic chondrodysplasia punctata type 2 (RCDP2). RDCP2 is characterized by rhizomelic shortening of femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe mental retardation. Belongs to the GPAT/DAPAT family. |
UniProt Protein Details: | Protein type:EC 2.3.1.42; Lipid Metabolism - glycerophospholipid; Transferase Chromosomal Location of Human Ortholog: 1q42 Cellular Component: peroxisomal membrane; peroxisomal matrix; mitochondrion; membrane; peroxisome Molecular Function:glycerone-phosphate O-acyltransferase activity; palmitoyl-CoA hydrolase activity; receptor binding Biological Process: response to drug; response to starvation; synaptogenesis; phospholipid metabolic process; glycerophospholipid biosynthetic process; cerebellum morphogenesis; phosphatidic acid biosynthetic process; cellular lipid metabolic process; response to nutrient; ether lipid biosynthetic process; paranodal junction assembly Disease: Rhizomelic Chondrodysplasia Punctata, Type 2 |
NCBI Summary: | This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. [provided by RefSeq, Jul 2008] |
UniProt Code: | O15228 |
NCBI GenInfo Identifier: | 3913409 |
NCBI Gene ID: | 8443 |
NCBI Accession: | O15228.1 |
UniProt Secondary Accession: | O15228,Q5TBH7, Q9BWC2, B4DNM9, |
UniProt Related Accession: | O15228 |
Molecular Weight: | 680 |
NCBI Full Name: | Dihydroxyacetone phosphate acyltransferase |
NCBI Synonym Full Names: | glyceronephosphate O-acyltransferase |
NCBI Official Symbol: | GNPAT |
NCBI Official Synonym Symbols: | DAPAT; DAP-AT; DHAPAT |
NCBI Protein Information: | dihydroxyacetone phosphate acyltransferase; DHAP-AT; glycerone-phosphate O-acyltransferase; acyl-CoA:dihydroxyacetonephosphateacyltransferase |
UniProt Protein Name: | Dihydroxyacetone phosphate acyltransferase |
UniProt Synonym Protein Names: | Acyl-CoA:dihydroxyacetonephosphateacyltransferase; Glycerone-phosphate O-acyltransferase |
Protein Family: | Dihydroxyacetone phosphate acyltransferase |
UniProt Gene Name: | GNPAT |
UniProt Entry Name: | GNPAT_HUMAN |
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