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 |