Anti-UNC13D Antibody (CAB13141)
- SKU:
- CAB13141
- Product type:
- Antibody
- Reactivity:
- Human
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Frequently bought together:
Description
| Antibody Name: | Anti-UNC13D Antibody |
| Antibody SKU: | CAB13141 |
| Antibody Size: | 20uL, 50uL, 100uL |
| Application: | WB |
| Reactivity: | Human, Mouse |
| Host Species: | Rabbit |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 891-1090 of human UNC13D (NP_954712.1). |
| Application: | WB |
| Recommended Dilution: | WB 1:1000 - 1:2000 |
| Reactivity: | Human, Mouse |
| Positive Samples: | A-549, HeLa, HepG2, Mouse lung |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 891-1090 of human UNC13D (NP_954712.1). |
| 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: | LIRK YFCS RIQQ QAET TSEE LGAV TVKA SYRA SEQK LRVE LLSA SSLL PLDS NGSS DPFV QLTL EPRH EFPE LAAR ETQK HKKD LHPL FDET FEFL VPAE PCRK AGAC LLLT VLDY DTLG ADDL EGEA FLPL REVP GLSG SEEP GEVP QTRL PLTY PAPN GDPI LQLL EGRK GDRE AQVF VRLR RHRA KQAS QHAL RPAP |
| Gene ID: | 201294 |
| Uniprot: | Q70J99 |
| Cellular Location: | Cytoplasm, Late endosome, Lysosome, Membrane, Peripheral membrane protein, Recycling endosome |
| Calculated MW: | 41kDa/123kDa/128kDa |
| Observed MW: | 123kDa |
| Synonyms: | UNC13D, FHL3, HLH3, HPLH3, Munc13-4 |
| Background: | This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. |
| UniProt Protein Function: | UNC13D: Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse. Regulates assembly of recycling and late endosomal structures, leading to the formation of an endosomal exocytic compartment that fuses with perforin-containing granules at the immunologic synapse and licences them for exocytosis. Regulates Ca(2+)-dependent secretory lysosome exocytosis in mast cells. Defects in UNC13D are the cause of familial hemophagocytic lymphohistiocytosis type 3 (FHL3); also known as HPLH3. Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous, rare autosomal recessive disorder. It is characterized by immune dysregulation with hypercytokinemia and defective natural killer cell function. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hypofibrinogenemia, and neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits, and ataxia. Hemophagocytosis is a prominent feature of the disease, and a non-malignant infiltration of macrophages and activated T-lymphocytes in lymph nodes, spleen, and other organs is also found. Belongs to the unc-13 family. 3 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Chromosomal Location of Human Ortholog: 17q25.1 Cellular Component: late endosome; lysosome; membrane; recycling endosome Molecular Function:protein binding; Rab GTPase binding Biological Process: defense response to virus; germinal center formation; granuloma formation; natural killer cell degranulation; phagocytosis; positive regulation of exocytosis; regulation of mast cell degranulation Disease: Hemophagocytic Lymphohistiocytosis, Familial, 3 |
| NCBI Summary: | This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq, Jul 2008] |
| UniProt Code: | Q70J99 |
| NCBI GenInfo Identifier: | 46195765 |
| NCBI Gene ID: | 201294 |
| NCBI Accession: | NP_954712.1 |
| UniProt Secondary Accession: | Q70J99,Q9H7K5, B4DWG9, |
| UniProt Related Accession: | Q70J99 |
| Molecular Weight: | 128,819 Da |
| NCBI Full Name: | protein unc-13 homolog D |
| NCBI Synonym Full Names: | unc-13 homolog D |
| NCBI Official Symbol: | UNC13D |
| NCBI Official Synonym Symbols: | FHL3; HLH3; HPLH3; Munc13-4 |
| NCBI Protein Information: | protein unc-13 homolog D |
| UniProt Protein Name: | Protein unc-13 homolog D |
| UniProt Synonym Protein Names: | Munc13-4 |
| Protein Family: | Protein |
| UniProt Gene Name: | UNC13D |
| UniProt Entry Name: | UN13D_HUMAN |
 | Western blot analysis of extracts of various cell lines, using UNC13D antibody (CAB13141) at 1:3000 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: 60s. |
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