Signal Transduction Antibodies 2
Anti-MKKS Antibody (CAB15336)
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- SKU:
- CAB15336
- Product Type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Signal Transduction
Description
| Antibody Name: | Anti-MKKS Antibody |
| Antibody SKU: | CAB15336 |
| Antibody Size: | 20uL, 50uL, 100uL |
| Application: | WB |
| Reactivity: | Human |
| Host Species: | Rabbit |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 221-570 of human MKKS (NP_740754.1). |
| Application: | WB |
| Recommended Dilution: | WB 1:200 - 1:2000 |
| Reactivity: | Human |
| Positive Samples: | K-562 |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 221-570 of human MKKS (NP_740754.1). |
| 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: | EMSE VQLM RLLP IKKS TALK VALF CTTL SGDT SDTG EGTV VVSY GVSL ENAV LDQL LNLG RQLI SDHV DLVL CQKV IHPS LKQF LNMH RIIA IDRI GVTL MEPL TKMT GTQP IGSL GSIC PNSY GSVK DVCT AKFG SKHF FHLI PNEA TICS LLLC NRND TAWD ELKL TCQT ALHV LQLT LKEP WALL GGGC TETH LAAY IRHK THND PESI LKDD ECTQ TELQ LIAE AFCS ALES VVGS LEHD GGEI LTDM KYGH LWSV QADS PCVA NWPD LLSQ CGCG LYNS QEEL NWSF LRST RRPF VPQS CLPH EAVG SASN LTLD CLTA KLSG LQVA VETA NLIL DLSY VIED KN |
| Gene ID: | 8195 |
| Uniprot: | Q9NPJ1 |
| Cellular Location: | Cytoplasm, centrosome, cytoskeleton, cytosol, microtubule organizing center |
| Calculated MW: | 62kDa |
| Observed MW: | 62kDa |
| Synonyms: | MKKS, BBS6, HMCS, KMS, MKS |
| Background: | This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. |
| UniProt Protein Function: | MKKS: Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis. Defects in MKKS are the cause of McKusick-Kaufman syndrome (MKKS). MKKS is an autosomal recessive developmental disorder. It is characterized by hydrometrocolpos, postaxial polydactyly and congenital heart defects. Defects in MKKS are the cause of Bardet-Biedl syndrome type 6 (BBS6). Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect. Belongs to the TCP-1 chaperonin family. |
| UniProt Protein Details: | Protein type:Chaperone; Cell development/differentiation Chromosomal Location of Human Ortholog: 20p12 Cellular Component: centrosome; intracellular; cytosol Molecular Function:protein binding; unfolded protein binding; ATP binding Biological Process: fat cell differentiation; gonad development; protein folding; heart development; photoreceptor cell maintenance; pigment granule aggregation in cell center; positive regulation of multicellular organism growth; vasodilation; intracellular transport; visual perception; sensory cilium biogenesis; brain morphogenesis; cilium biogenesis; negative regulation of blood pressure; heart looping; chaperone-mediated protein complex assembly; artery smooth muscle contraction; striatum development; convergent extension involved in gastrulation; sensory perception of smell; hippocampus development; social behavior; detection of mechanical stimulus involved in sensory perception of sound; melanosome transport; cartilage development; cerebral cortex development; determination of left/right symmetry; spermatid development Disease: Bardet-biedl Syndrome 6; Bardet-biedl Syndrome 1; Mckusick-kaufman Syndrome |
| NCBI Summary: | This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013] |
| UniProt Code: | Q9NPJ1 |
| NCBI GenInfo Identifier: | 11133565 |
| NCBI Gene ID: | 8195 |
| NCBI Accession: | Q9NPJ1.1 |
| UniProt Secondary Accession: | Q9NPJ1,A8K7B0, D3DW18, |
| UniProt Related Accession: | Q9NPJ1 |
| Molecular Weight: | 570 |
| NCBI Full Name: | McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin |
| NCBI Synonym Full Names: | McKusick-Kaufman syndrome |
| NCBI Official Symbol: | MKKS |
| NCBI Official Synonym Symbols: | KMS; MKS; BBS6; HMCS |
| NCBI Protein Information: | McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin; Bardet-Biedl syndrome 6 protein |
| UniProt Protein Name: | McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin |
| UniProt Synonym Protein Names: | Bardet-Biedl syndrome 6 protein |
| Protein Family: | McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin |
| UniProt Gene Name: | MKKS |
| UniProt Entry Name: | MKKS_HUMAN |
 | Western blot analysis of extracts of K-562 cells, using MKKS antibody (CAB15336) 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: 20s. |
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