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CAV3 cDNA ORF clone, Homo sapiens(Human)

Gene Symbol CAV3
Entrez Gene ID 859
Full Name caveolin 3
Synonyms LGMD1C,LQT9,VIP-21,VIP21
General protein information
Preferred Names

caveolin 3

Names

caveolin-3
M-caveolin
cavolin 3

Gene Type protein-coding
Organism Homo sapiens(Human)
Genome

3

3p25.3

Summary This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites. [provided by RefSeq, Jul 2008].
Disorder MIM:

601253

Disorder Html: Muscular dystrophy, limb-girdle, type IC, 607801 (3); Rippling

mRNA and Protein(s)

mRNA Protein Name
NM_001234.4 NP_001225.1 caveolin-3
NM_033337.2 NP_203123.1 caveolin-3



Pan troglodytes (chimpanzee) CAV3 XP_001144093.2
Mus musculus (house mouse) Cav3 NP_031643.1
Danio rerio (zebrafish) cav3 NP_991301.1
Bos taurus (cattle) CAV3 NP_001040023.1
Macaca mulatta (rhesus monkey) CAV3 XP_001097615.1
Homo sapiens (human) CAV3 NP_203123.1
Canis lupus familiaris (dog) CAV3 XP_541786.2
Xenopus tropicalis (tropical clawed frog) cav3.1 NP_001096498.1
Rattus norvegicus (Norway rat) Cav3 NP_062028.1
Gallus gallus (chicken) CAV3 NP_989701.1


Related articles in PubMed

Topologically Diverse Human Membrane Proteins Partition to Liquid-Disordered Domains in Phase-Separated Lipid Vesicles.
Schlebach JP, Barrett PJ, Day CA, Kim JH, Kenworthy AK, Sanders CR
Biochemistry55(7)985-8(2016 Feb)

Caveolinopathies in Greece.
Papadopoulos C, Papadimas GK, Kekou K, Spengos K, Svigou M, Kitsiou-Tzeli S, Manta P
The neurologist20(1)8-12(2015 Jul)

The role of the sodium current complex in a nonreferred nationwide cohort of sudden infant death syndrome.
Winkel BG, Yuan L, Olesen MS, Sadjadieh G, Wang Y, Risgaard B, Jabbari R, Haunsø S, Holst AG, Hollegaard MV, Tfelt-Hansen J, Jespersen T
Heart rhythm12(6)1241-9(2015 Jun)

MURC/cavin-4 Is Co-Expressed with Caveolin-3 in Rhabdomyosarcoma Tumors and Its Silencing Prevents Myogenic Differentiation in the Human Embryonal RD Cell Line.
Faggi F, Codenotti S, Poliani PL, Cominelli M, Chiarelli N, Colombi M, Vezzoli M, Monti E, Bono F, Tulipano G, Fiorentini C, Zanola A, Lo HP, Parton RG, Keller C, Fanzani A
PloS one10(6)e0130287(2015)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

The Cav3 P104L mutation of limb girdle muscular dystrophy-1C leads to disordered glucose metabolism in muscle cells.
Title: The Caveolin-3 P104L mutation of LGMD-1C leads to disordered glucose metabolism in muscle cells.

This study demonstrated that the Caveolin-3 is aberrantly expressed in skeletal muscle cells in myasthenia gravis.
Title: Caveolin-3 is aberrantly expressed in skeletal muscle cells in myasthenia gravis.

Study characterized the secondary structure, dynamics, and topology of a lipidated full-length human Cav3 construct, demonstrated that the N-terminal domain undergoes a dramatic topological rearrangement in both micelles and vesicles that is reversibly mediated by pH
Title: A pH-Mediated Topological Switch within the N-Terminal Domain of Human Caveolin-3.

Data (including data from studies using recombinant proteins that lack typical in-vivo post-translational modifications such as palmitoylation) suggest Cav3 exhibits little tendency to partition into liquid-ordered domains of unilamellar vesicles.
Title: Topologically Diverse Human Membrane Proteins Partition to Liquid-Disordered Domains in Phase-Separated Lipid Vesicles.

This study demonstrated that cav3 mutation in stinct disorders including limb-girdle muscular dystrophy 1C, rippling muscle disease, and isolated creatine kinase elevation in Greece.
Title: Caveolinopathies in Greece.

The following CAV3 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the CAV3 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

Online Only Promotion

Up to 50% OFF! Starting
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***CloneID RefSeq Accession Definition **Vector *Turnaround time Price (USD) Select
OHu21738 NM_001234.4
Latest version!
Homo sapiens caveolin 3 (CAV3), transcript variant 2, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$49.50-$69.30
$99.00
OHu21738 NM_033337.2
Latest version!
Homo sapiens caveolin 3 (CAV3), transcript variant 1, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$49.50-$69.30
$99.00

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2-4 Clone 40% OFF
5 or more Clone 50% OFF
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** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.


CloneID OHu21738
Clone ID Related Accession (Same CDS sequence) NM_001234.4 , NM_033337.2
Accession Version NM_001234.4 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 456bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 2017-04-23
Organism Homo sapiens(Human)
Product caveolin-3
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK291892.1, Y14747.1, AC068312.5 and AA993189.1. On Nov 9, 2011 this sequence version replaced NM_001234.3. Transcript Variant: This variant (2) is shorter than variant 1, since it lacks a differentially spliced intron located in the 3' UTR, but both transcripts encode identical proteins. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: Y14747.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2149178, SAMEA2154361 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
ATGATGGCAG AAGAGCACAC AGATCTCGAG GCCCAGATCG TCAAGGATAT CCACTGCAAG 
GAGATTGACC TGGTGAACCG AGACCCCAAG AACATTAACG AGGACATAGT CAAGGTGGAT
TTTGAAGACG TGATCGCAGA GCCTGTGGGC ACCTACAGCT TTGACGGCGT GTGGAAGGTG
AGCTACACCA CCTTCACTGT CTCCAAGTAC TGGTGCTACC GTCTGTTGTC CACGCTGCTG
GGCGTCCCAC TGGCCCTGCT CTGGGGCTTC CTGTTCGCCT GCATCTCCTT CTGCCACATC
TGGGCGGTGG TGCCATGCAT TAAGAGCTAC CTGATCGAGA TCCAGTGCAT CAGCCACATC
TACTCACTCT GCATCCGCAC CTTCTGCAAC CCACTCTTCG CGGCCCTGGG CCAGGTCTGC
AGCAGCATCA AGGTGGTGCT GCGGAAGGAG GTCTAA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_001225.1
CDS78..533
Misc Feature(1)120..521
Misc Feature(2)267..419
Exon (1)1..191
Exon (2)192..539
Exon (3)540..1335
Translation

Target ORF information:

RefSeq Version NM_001234.4
Organism Homo sapiens(Human)
Definition Homo sapiens caveolin 3 (CAV3), transcript variant 2, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_001234.4

ORF Insert Sequence:

1
61
121
181
241
301
361
421
ATGATGGCAG AAGAGCACAC AGATCTCGAG GCCCAGATCG TCAAGGATAT CCACTGCAAG 
GAGATTGACC TGGTGAACCG AGACCCCAAG AACATTAACG AGGACATAGT CAAGGTGGAT
TTTGAAGACG TGATCGCAGA GCCTGTGGGC ACCTACAGCT TTGACGGCGT GTGGAAGGTG
AGCTACACCA CCTTCACTGT CTCCAAGTAC TGGTGCTACC GTCTGTTGTC CACGCTGCTG
GGCGTCCCAC TGGCCCTGCT CTGGGGCTTC CTGTTCGCCT GCATCTCCTT CTGCCACATC
TGGGCGGTGG TGCCATGCAT TAAGAGCTAC CTGATCGAGA TCCAGTGCAT CAGCCACATC
TACTCACTCT GCATCCGCAC CTTCTGCAAC CCACTCTTCG CGGCCCTGGG CCAGGTCTGC
AGCAGCATCA AGGTGGTGCT GCGGAAGGAG GTCTAA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu21738
Clone ID Related Accession (Same CDS sequence) NM_001234.4 , NM_033337.2
Accession Version NM_033337.2 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 456bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 2017-04-23
Organism Homo sapiens(Human)
Product caveolin-3
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK291892.1, BC102033.1, BX114193.1 and AA993189.1. This sequence is a reference standard in the RefSeqGene project. On Jun 23, 2010 this sequence version replaced NM_033337.1. Transcript Variant: This variant (1) is longer than variant 2, since it includes a differentially spliced intron located in the 3' UTR, but both transcripts encode identical proteins. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DA897474.1, AF043101.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142680, SAMEA2146236 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
ATGATGGCAG AAGAGCACAC AGATCTCGAG GCCCAGATCG TCAAGGATAT CCACTGCAAG 
GAGATTGACC TGGTGAACCG AGACCCCAAG AACATTAACG AGGACATAGT CAAGGTGGAT
TTTGAAGACG TGATCGCAGA GCCTGTGGGC ACCTACAGCT TTGACGGCGT GTGGAAGGTG
AGCTACACCA CCTTCACTGT CTCCAAGTAC TGGTGCTACC GTCTGTTGTC CACGCTGCTG
GGCGTCCCAC TGGCCCTGCT CTGGGGCTTC CTGTTCGCCT GCATCTCCTT CTGCCACATC
TGGGCGGTGG TGCCATGCAT TAAGAGCTAC CTGATCGAGA TCCAGTGCAT CAGCCACATC
TACTCACTCT GCATCCGCAC CTTCTGCAAC CCACTCTTCG CGGCCCTGGG CCAGGTCTGC
AGCAGCATCA AGGTGGTGCT GCGGAAGGAG GTCTAA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_203123.1
CDS78..533
Misc Feature(1)120..521
Misc Feature(2)267..419
Exon (1)1..191
Exon (2)192..1431
Translation

Target ORF information:

RefSeq Version NM_033337.2
Organism Homo sapiens(Human)
Definition Homo sapiens caveolin 3 (CAV3), transcript variant 1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_033337.2

ORF Insert Sequence:

1
61
121
181
241
301
361
421
ATGATGGCAG AAGAGCACAC AGATCTCGAG GCCCAGATCG TCAAGGATAT CCACTGCAAG 
GAGATTGACC TGGTGAACCG AGACCCCAAG AACATTAACG AGGACATAGT CAAGGTGGAT
TTTGAAGACG TGATCGCAGA GCCTGTGGGC ACCTACAGCT TTGACGGCGT GTGGAAGGTG
AGCTACACCA CCTTCACTGT CTCCAAGTAC TGGTGCTACC GTCTGTTGTC CACGCTGCTG
GGCGTCCCAC TGGCCCTGCT CTGGGGCTTC CTGTTCGCCT GCATCTCCTT CTGCCACATC
TGGGCGGTGG TGCCATGCAT TAAGAGCTAC CTGATCGAGA TCCAGTGCAT CAGCCACATC
TACTCACTCT GCATCCGCAC CTTCTGCAAC CCACTCTTCG CGGCCCTGGG CCAGGTCTGC
AGCAGCATCA AGGTGGTGCT GCGGAAGGAG GTCTAA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

book

Topologically Diverse Human Membrane Proteins Partition to Liquid-Disordered Domains in Phase-Separated Lipid Vesicles.
Biochemistry55(7)985-8(2016 Feb)
Schlebach JP,Barrett PJ,Day CA,Kim JH,Kenworthy AK,Sanders CR


book

Caveolinopathies in Greece.
The neurologist20(1)8-12(2015 Jul)
Papadopoulos C,Papadimas GK,Kekou K,Spengos K,Svigou M,Kitsiou-Tzeli S,Manta P


book

The role of the sodium current complex in a nonreferred nationwide cohort of sudden infant death syndrome.
Heart rhythm12(6)1241-9(2015 Jun)
Winkel BG,Yuan L,Olesen MS,Sadjadieh G,Wang Y,Risgaard B,Jabbari R,Haunsø S,Holst AG,Hollegaard MV,Tfelt-Hansen J,Jespersen T


book

MURC/cavin-4 Is Co-Expressed with Caveolin-3 in Rhabdomyosarcoma Tumors and Its Silencing Prevents Myogenic Differentiation in the Human Embryonal RD Cell Line.
PloS one10(6)e0130287(2015)
Faggi F,Codenotti S,Poliani PL,Cominelli M,Chiarelli N,Colombi M,Vezzoli M,Monti E,Bono F,Tulipano G,Fiorentini C,Zanola A,Lo HP,Parton RG,Keller C,Fanzani A


 
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