Difference between revisions of "Lnc-CTSZ-5:1"
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==Annotated Information== | ==Annotated Information== | ||
+ | ===Name=== | ||
+ | Nespas | ||
+ | |||
+ | ===Characteristics=== | ||
+ | Northern blot with a probe for Nespas detects a smear and discrete band of 4.4kb and larger [http://www.ncbi.nlm.nih.gov/pubmed/10716699 (Wroe (2000))]. In addition to an unspliced form, five alternatively spliced forms of up to 1.4 kb in length have also been detected [http://www.ncbi.nlm.nih.gov/pubmed/11889554 (Williamson (2002))]. Imprinted (transcribed from the paternal allele). Transcribed from intron 2 of Nesp (Gnas), encompassing exons 2 through 1. The imprinted GNAS locus encodes the alpha-subunit of the stimulatory G protein as well as additional imprinted transcripts including the maternally expressed NESP55 and other paternally expressed transcripts (XLalphas and A/B transcripts). | ||
+ | |||
+ | ===Function=== | ||
+ | A 4.2 kb microdeletion in humans that ablates two GNAS antisense exons is associated with pseudohypoparathyroidism type Ib. When maternally transmitted, this mutation causes loss of maternal GNAS imprints, partial gain of NESP55 methylation, and resistance to parathyroid hormone (PTH) in affected and obligate carrier individuals. Paternal transmission leads to epigenetic alterations in cis, including a partial loss of NESP55 methylation and a partial gain of A/B methylation. [http://www.ncbi.nlm.nih.gov/pubmed/20444925 (Chillambhi (2010))]. Nespas RNA was identified as binding to the repressive PRC2 chromatin modification complex in mouse embryonic stem cells, suggesting that like noncoding RNAs from other imprinted region, nespas could act to regulate the imprinting cluster it is transcribed from [http://www.ncbi.nlm.nih.gov/pubmed/21172659 (Zhao (2010))]. | ||
+ | |||
+ | ===Expression=== | ||
+ | Tissue-specific expression with signal in heart, in cerebral cortex, adrenal, and spleen, where Nesp is also expressed. Nesp and Nespas transcripts show expression from opposite parental alleles in most (but not all) tissues [http://www.ncbi.nlm.nih.gov/pubmed/11056047 (Li (2000))], and Nespas may be abundant in some tissues where Nesp is not detected [http://www.ncbi.nlm.nih.gov/pubmed/11889554 (Williamson (2002))]. Furthermore, the Nesp transcripts can also remain imprinted in tissues that lack Nespas. | ||
+ | |||
+ | ===Conservation=== | ||
+ | Please input conservation information here. | ||
+ | |||
+ | ===Misc=== | ||
+ | Please input misc information here. | ||
+ | |||
===Transcriptomic Nomeclature=== | ===Transcriptomic Nomeclature=== | ||
Please input transcriptomic nomeclature information here. | Please input transcriptomic nomeclature information here. | ||
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===Regulation=== | ===Regulation=== | ||
Please input regulation information here. | Please input regulation information here. | ||
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===Allelic Information and Variation=== | ===Allelic Information and Variation=== | ||
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You can also add sub-section(s) at will. | You can also add sub-section(s) at will. | ||
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==Labs working on this lncRNA== | ==Labs working on this lncRNA== | ||
Please input related labs here. | Please input related labs here. | ||
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}} | }} | ||
[[Category:Intergenic]] | [[Category:Intergenic]] | ||
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Revision as of 03:15, 10 October 2014
Please input one-sentence summary here.
Contents
Annotated Information
Name
Nespas
Characteristics
Northern blot with a probe for Nespas detects a smear and discrete band of 4.4kb and larger (Wroe (2000)). In addition to an unspliced form, five alternatively spliced forms of up to 1.4 kb in length have also been detected (Williamson (2002)). Imprinted (transcribed from the paternal allele). Transcribed from intron 2 of Nesp (Gnas), encompassing exons 2 through 1. The imprinted GNAS locus encodes the alpha-subunit of the stimulatory G protein as well as additional imprinted transcripts including the maternally expressed NESP55 and other paternally expressed transcripts (XLalphas and A/B transcripts).
Function
A 4.2 kb microdeletion in humans that ablates two GNAS antisense exons is associated with pseudohypoparathyroidism type Ib. When maternally transmitted, this mutation causes loss of maternal GNAS imprints, partial gain of NESP55 methylation, and resistance to parathyroid hormone (PTH) in affected and obligate carrier individuals. Paternal transmission leads to epigenetic alterations in cis, including a partial loss of NESP55 methylation and a partial gain of A/B methylation. (Chillambhi (2010)). Nespas RNA was identified as binding to the repressive PRC2 chromatin modification complex in mouse embryonic stem cells, suggesting that like noncoding RNAs from other imprinted region, nespas could act to regulate the imprinting cluster it is transcribed from (Zhao (2010)).
Expression
Tissue-specific expression with signal in heart, in cerebral cortex, adrenal, and spleen, where Nesp is also expressed. Nesp and Nespas transcripts show expression from opposite parental alleles in most (but not all) tissues (Li (2000)), and Nespas may be abundant in some tissues where Nesp is not detected (Williamson (2002)). Furthermore, the Nesp transcripts can also remain imprinted in tissues that lack Nespas.
Conservation
Please input conservation information here.
Misc
Please input misc information here.
Transcriptomic Nomeclature
Please input transcriptomic nomeclature information here.
Regulation
Please input regulation information here.
Allelic Information and Variation
Please input allelic information and variation information here.
Evolution
Please input evolution information here.
You can also add sub-section(s) at will.
Labs working on this lncRNA
Please input related labs here.
References
Please input cited references here.
Basic Information
Transcript ID |
lnc-CTSZ-5:1 |
Source |
LNCipedia2.1 |
Same with |
, |
Classification |
intergenic |
Length |
1158 nt |
Genomic location |
chr20-:57393972..57425958 |
Exon number |
, |
Exons |
, |
Genome context |
|
Sequence |
000001 TAGGGGGCGC CGCGTTGGAA CGCCCGAAGA GGTGCTGCTG GGGTGGTTGG AAGCCGGTGG GGGGCGGGTG TATGGCGGCT 000080
000081 AGGCCTGGAA GACCACGAGG ACCGCTAGCG CCGTGGGGTC ACTCTTCCTC ATGCCACAGG TTGCCGAGCC TCGGGGGAGA 000160 000161 GGTGGGGTCC CAGGGGCCAA CCCTTGGGTG TGTTGATGGC GGCAGGCTAA CCCAGCCAAC GGGGTGCCAC TGCCGGGCAA 000240 000241 GGTGAGGAGC AAGAAGATTT CCAGGGCTGG GAGGTAGAGG GCCAGGACCC CAAGGAGAGG GCTTACTGCG AGGAGCAGCC 000320 000321 CAGGATGGAT AAGGAGTTGA GGCCCCAGGG ATGCTGAGCC TGCACAAGTG GAAGTGACTG GCTACCAGAC TCTGAAAAAC 000400 000401 CTAAGTCCTT TAGGGAAGAC CACAAAAGCA TCCAACCACA GTCTGCGCTG CAGCCCGGCA GAACTAAGTC TTGGGCGCCG 000480 000481 CGACGCCTTT CCTACGGAAT AGGTCCTGGA AGGAAGACCA TTTAAGTCTT TCCCCCCAGG ACTGGCGAGG AGAGCACGCC 000560 000561 TTCCCTTCCG AAGGTGCGTT ACCAGATTGC TGCCGTTTTT GTGCTGGGTC ATCAGAGCAG ATTCCCCTCC AGGTTACAGA 000640 000641 TTAAACTTAA CTCTACCCGT GCTGAAAATG GCCGGAGCAC GCCGCCTCGC CTCCCCTCCC CAAGGCTGCC GGAGCCGCCG 000720 000721 GCCCCTGCCT CCTTTTCGAC GACTGATCGT CCAAGGACTG GCGCCGGATC CAACACCTTT CCCCAGCTCT GCGCGTACCG 000800 000801 CGCTCTTTGG AAACGAATTG GTCCCTGTCT GCTTCCAAGG GTCCCTGGAA CCTTCTGCAG CTGTGCCTCT CCAGAGCTCC 000880 000881 GCCTCATTAG TGCCACGTTC CTGGTTTGAA AACCATAGTA CTTCAACCTC TTCTAGATGG GAGTTAACCT TTGCCCTCTG 000960 000961 AAAGAAAGGT TTGATAAGCA AAGAGAGTTT GGTGAGCAAG ATCCTTGAGG TAAGAGCTGA TCTCTGACGT CCGCTGGGAA 001040 001041 CTGGCTGCTC TGCAGGTTTC TGTATCACAT TTTCTGCACA TGTCCATTAG AATTGGAGAT GGGGCGTATC TAGTGTTGAA 001120 001121 TAAAGGCCCG GCAGGCCCTC CCAGATGCAC CCTGTCAA |