Cell Biology Antibodies 13
Anti-GORAB Antibody (CAB17245)
- SKU:
- CAB17245
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Description
| Antibody Name: | Anti-GORAB Antibody |
| Antibody SKU: | CAB17245 |
| Antibody Size: | 20uL, 50uL, 100uL |
| Application: | WB |
| Reactivity: | Human, Mouse |
| Host Species: | Rabbit |
| Immunogen: | A synthetic peptide corresponding to a sequence within amino acids 1-100 of human GORAB (NP_001139511.1). |
| Application: | WB |
| Recommended Dilution: | WB 1:500 - 1:2000 |
| Reactivity: | Human, Mouse |
| Positive Samples: | A-431, U20S, U-251MG, Mouse spleen |
| Immunogen: | A synthetic peptide corresponding to a sequence within amino acids 1-100 of human GORAB (NP_001139511.1). |
| 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: | MSWA AVLA VAAA RFGH FWGC RWPG PMAQ GWAG FSEE ELRR LKQT KDPF EPQR RLPA KKSR QQLQ REKA LVEQ SQKL GLQD GSTS LLPE QLLS APKQ RVNV |
| Gene ID: | 92344 |
| Uniprot: | Q5T7V8 |
| Cellular Location: | |
| Calculated MW: | 21kDa/24kDa/27kDa/44kDa |
| Observed MW: | 55kDa |
| Synonyms: | GORAB, GO, NTKLBP1, SCYL1BP1 |
| Background: | This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis. Mutations in this gene have been associated with geroderma osteodysplastica. Alternatively spliced transcript variants have been described. |
| UniProt Protein Function: | SCYL1BP1: Defects in GORAB are the cause of geroderma osteodysplasticum (GO); also known as gerodermia osteodysplastica or Walt Disney dwarfism. GO is a rare autosomal recessive disorder characterized by lax, wrinkled skin, joint laxity and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia and a variable degree of growth retardation. Belongs to the GORAB family. 4 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Unknown function Chromosomal Location of Human Ortholog: 1q24.2 Cellular Component: nucleoplasm; Golgi apparatus; cytoplasm; nucleolus; nucleus Molecular Function:protein binding Disease: Geroderma Osteodysplasticum |
| NCBI Summary: | This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis. Mutations in this gene have been associated with geroderma osteodysplastica. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009] |
| UniProt Code: | Q5T7V8 |
| NCBI GenInfo Identifier: | 74745442 |
| NCBI Gene ID: | 92344 |
| NCBI Accession: | Q5T7V8.1 |
| UniProt Secondary Accession: | Q5T7V8,Q49A22, Q6P1P9, Q9HAE6, Q9Y350, |
| UniProt Related Accession: | Q5T7V8 |
| Molecular Weight: | 24,652 Da |
| NCBI Full Name: | RAB6-interacting golgin |
| NCBI Synonym Full Names: | golgin, RAB6-interacting |
| NCBI Official Symbol: | GORAB |
| NCBI Official Synonym Symbols: | GO; NTKLBP1; SCYL1BP1 |
| NCBI Protein Information: | RAB6-interacting golgin; SCYL1-BP1; hNTKL-BP1; NTKL-binding protein 1; SCYL1-binding protein 1; SCY1-like 1 binding protein 1; SCY1-like 1-binding protein 1; N-terminal kinase-like-binding protein 1 |
| UniProt Protein Name: | RAB6-interacting golgin |
| UniProt Synonym Protein Names: | N-terminal kinase-like-binding protein 1; NTKL-BP1; NTKL-binding protein 1; hNTKL-BP1; SCY1-like 1-binding protein 1; SCYL1-BP1; SCYL1-binding protein 1 |
| Protein Family: | RAB6-interacting golgin |
| UniProt Gene Name: | GORAB |
| UniProt Entry Name: | GORAB_HUMAN |
