Group:MUZIC:CARP: Difference between revisions

Line 15:

== Gene Function and Interactions ==

Ankrd1 plays a structural role by interacting with the Z disc protein [[titin]]. It is a part of the titin-mechanosensory signaling complex in the sarcomere and in response to stretch it translocates to the nucleus where it participates in the regulation of cardiac genes as a transcriptional co-repressor.<ref name='three'>PMID 9043061</ref>

Ankrd1 plays a structural role by interacting with the Z disc protein [http://www.proteopedia.org/wiki/index.php/Group:MUZIC:Titin titin]. It is a part of the titin-mechanosensory signaling complex in the sarcomere and in response to stretch it translocates to the nucleus where it participates in the regulation of cardiac genes as a transcriptional co-repressor<ref name='three'>PMID 9043061</ref>.

Ankrd1 localizes in the central I-band region~~, co-localizes with~~ the ~~titin-N2A~~ region~~, more specifically~~ with a tyrosine-rich motif lying between two Ig-like motifs (I80 and I81)~~. Ankrd1 protein contains a binding site for titin within its ankyrin repeat region.~~<ref name='one'>PMID 14583192</ref> The cleavage of Ankrd1 by calpain 3 disrupts the bipartite NLS potentially affecting its nuclear transport.<ref name='twenty one'>PMID 20860623</ref> ~~The~~ cleavage site ~~for calpain 3~~ is at the N terminus of Ankrd1 between amino acids 30 and 71 <ref name='twenty two'>PMID 18310072</ref>.

Ankrd1 also co-localizes in the central I-band N2A region of titin. Specifically the binding site of Ankrd1 is located within its ankyrin repeat region and it interacts with a tyrosine-rich motif lying between two Ig-like motifs (I80 and I81)<ref name='one'>PMID 14583192</ref>. The cleavage of Ankrd1 by calpain 3 disrupts the bipartite NLS potentially affecting its nuclear transport<ref name='twenty one'>PMID 20860623</ref> and the cleavage site is located at the N terminus of Ankrd1 between amino acids 30 and 71<ref name='twenty two'>PMID 18310072</ref>.

CARP/Ankrd1 binds the sarcomeric protein cardiac calsequestrin-2, CASQ2. <ref name='eight'>PMID 15698842</ref> ~~These interactions are~~ mediated, at least partially, by the binding sites localized within the ankyrin repeats and coiled-coil domain. Ankrd1 ~~can also interact~~ with the sarcomeric proteins myopalladin <ref name='twenty three'>PMID 11309420</ref>., desmin <ref name='twenty four'>PMID 16450059</ref>, and muscle-specific RING finger proteins MuRF1/MuRF2 <ref name='twenty five'>PMID 18157088</ref> indicating its structural role. CARP/Ankrd1 also binds calpain 3 <ref name='twenty one'>PMID 20860623</ref> ~~and several transcription factors such as YB1 and p53~~.

CARP/Ankrd1 binds the sarcomeric protein cardiac calsequestrin-2 (CASQ2)<ref name='eight'>PMID 15698842</ref>. This interaction is mediated at least partially by the binding sites localized within the ankyrin repeats and the coiled-coil domain of Ankrd1. It has also been reported that the Ankrd1 is interacting with the sarcomeric proteins myopalladin<ref name='twenty three'>PMID 11309420</ref>, desmin<ref name='twenty four'>PMID 16450059</ref> and the muscle-specific RING finger proteins MuRF1/MuRF2<ref name='twenty five'>PMID 18157088</ref> indicating its important structural role. CARP/Ankrd1 also binds calpain 3 and several transcription factors such as YB1 and p53<ref name='twenty one'>PMID 20860623</ref>.

==Pathology ==

Ankrd1 has been found to be induced in the hypertrophy, during cardiac ventricle overload <ref name='eleven'>PMID 9043061</ref>, in the skeletal muscle under certain conditions such as exercise <ref name='twelve'>PMID 19150862</ref>, denervation <ref

Ankrd1 has been found to be induced in the hypertrophy, during cardiac ventricle overload<ref name='eleven'>PMID 9043061</ref> in the skeletal muscle under certain conditions such as exercise<ref name='twelve'>PMID 19150862</ref>, denervation <ref name='thirteen'>PMID 12004005</ref>, work overload hypertrophy<ref name='fourteen'>PMID 11744623</ref> and muscle pathologies<ref name='fifteen'>PMID 12679596</ref>,<ref name='sixteen'>PMID 12746480 </ref>,<ref name='seventeen'>PMID 14516314 </ref>. It could also be involved in muscle disuse atrophy, since it was identified as an indirect target gene of two transcription factors (p50 and Bcl-3) associated with muscle wasting<ref name='eighteen'>PMID 21249144 </ref>. The Ankrd1 expression is increased in patients with left ventricular dilated and ischemic cardiomyopathies<ref name='ninteen'>PMID 12054667 </ref> and it has been identified as a candidate gene with a role in congenital heart disease <ref name='twenty'>PMID 18273862 </ref>.

name='thirteen'>PMID 12004005</ref>, work overload hypertrophy <ref name='fourteen'>PMID 11744623</ref> and muscle pathologies <ref name='fifteen'>PMID 12679596</ref>, <ref name='sixteen'>PMID 12746480 </ref>,<ref name='seventeen'>PMID 14516314 </ref>. ~~Ankrd1~~ could be involved in muscle disuse atrophy, since it was identified as an indirect target gene of two transcription factors (p50 and Bcl-3) associated with muscle wasting <ref name='eighteen'>PMID 21249144 </ref>. Ankrd1 expression is increased in patients with left ventricular dilated and ischemic cardiomyopathies <ref name='ninteen'>PMID 12054667 </ref>, and it has been identified as a candidate gene with a role in congenital heart disease <ref name='twenty'>PMID 18273862 </ref>.

Group:MUZIC:CARP: Difference between revisions

Navigation menu

Page actions

Page actions

Personal tools

Navigation

Search

Tools

@@ Line 15: / Line 15: @@
 == Gene Function and Interactions ==
-Ankrd1 plays a structural role by interacting with the Z disc protein [[titin]]. It is a part of the titin-mechanosensory signaling complex in the sarcomere and in response to stretch it translocates to the nucleus where it participates in the regulation of cardiac genes as a transcriptional co-repressor.<ref name='three'>PMID 9043061</ref>
+Ankrd1 plays a structural role by interacting with the Z disc protein [http://www.proteopedia.org/wiki/index.php/Group:MUZIC:Titin titin]. It is a part of the titin-mechanosensory signaling complex in the sarcomere and in response to stretch it translocates to the nucleus where it participates in the regulation of cardiac genes as a transcriptional co-repressor<ref name='three'>PMID 9043061</ref>.
-Ankrd1 localizes in the central I-band region, co-localizes with the titin-N2A region, more specifically with a tyrosine-rich motif lying between two Ig-like motifs (I80 and I81). Ankrd1 protein contains a binding site for titin within its ankyrin repeat region.<ref name='one'>PMID 14583192</ref> The cleavage of Ankrd1 by calpain 3 disrupts the bipartite NLS potentially affecting its nuclear transport.<ref name='twenty one'>PMID 20860623</ref> The cleavage site for calpain 3 is at the N terminus of Ankrd1 between amino acids 30 and 71 <ref name='twenty two'>PMID 18310072</ref>.
+Ankrd1 also co-localizes in the central I-band N2A region of titin. Specifically the binding site of Ankrd1 is located within its ankyrin repeat region and it interacts with a tyrosine-rich motif lying between two Ig-like motifs (I80 and I81)<ref name='one'>PMID 14583192</ref>. The cleavage of Ankrd1 by calpain 3 disrupts the bipartite NLS potentially affecting its nuclear transport<ref name='twenty one'>PMID 20860623</ref> and the cleavage site is located at the N terminus of Ankrd1 between amino acids 30 and 71<ref name='twenty two'>PMID 18310072</ref>.
-CARP/Ankrd1 binds the sarcomeric protein cardiac calsequestrin-2, CASQ2. <ref name='eight'>PMID 15698842</ref> These interactions are mediated, at least partially, by the binding sites localized within the ankyrin repeats and coiled-coil domain. Ankrd1 can also interact with the sarcomeric proteins myopalladin <ref name='twenty three'>PMID 11309420</ref>., desmin <ref name='twenty four'>PMID 16450059</ref>, and muscle-specific RING finger proteins MuRF1/MuRF2 <ref name='twenty five'>PMID 18157088</ref> indicating its structural role. CARP/Ankrd1 also binds calpain 3 <ref name='twenty one'>PMID 20860623</ref> and several transcription factors such as YB1 and p53.
+CARP/Ankrd1 binds the sarcomeric protein cardiac calsequestrin-2 (CASQ2)<ref name='eight'>PMID 15698842</ref>. This interaction is mediated at least partially by the binding sites localized within the ankyrin repeats and the coiled-coil domain of Ankrd1. It has also been reported that the Ankrd1 is interacting with the sarcomeric proteins myopalladin<ref name='twenty three'>PMID 11309420</ref>, desmin<ref name='twenty four'>PMID 16450059</ref> and the muscle-specific RING finger proteins MuRF1/MuRF2<ref name='twenty five'>PMID 18157088</ref> indicating its important structural role. CARP/Ankrd1 also binds calpain 3 and several transcription factors such as YB1 and p53<ref name='twenty one'>PMID 20860623</ref>.
 ==Pathology ==
-Ankrd1 has been found to be induced in the hypertrophy, during cardiac ventricle overload <ref name='eleven'>PMID 9043061</ref>, in the skeletal muscle under certain conditions such as exercise <ref name='twelve'>PMID 19150862</ref>, denervation <ref
+Ankrd1 has been found to be induced in the hypertrophy, during cardiac ventricle overload<ref name='eleven'>PMID 9043061</ref> in the skeletal muscle under certain conditions such as exercise<ref name='twelve'>PMID 19150862</ref>, denervation <ref name='thirteen'>PMID 12004005</ref>, work overload hypertrophy<ref name='fourteen'>PMID 11744623</ref> and muscle pathologies<ref name='fifteen'>PMID 12679596</ref>,<ref name='sixteen'>PMID 12746480 </ref>,<ref name='seventeen'>PMID 14516314 </ref>. It could also be involved in muscle disuse atrophy, since it was identified as an indirect target gene of two transcription factors (p50 and Bcl-3) associated with muscle wasting<ref name='eighteen'>PMID 21249144 </ref>. The Ankrd1 expression is increased in patients with left ventricular dilated and ischemic cardiomyopathies<ref name='ninteen'>PMID 12054667  </ref> and it has been identified as a candidate gene with a role in congenital heart disease <ref name='twenty'>PMID 18273862 </ref>.
-name='thirteen'>PMID 12004005</ref>, work overload hypertrophy <ref name='fourteen'>PMID 11744623</ref> and muscle pathologies <ref name='fifteen'>PMID 12679596</ref>, <ref name='sixteen'>PMID 12746480 </ref>,<ref name='seventeen'>PMID 14516314 </ref>. Ankrd1 could be involved in muscle disuse atrophy, since it was identified as an indirect target gene of two transcription factors (p50 and Bcl-3) associated with muscle wasting <ref name='eighteen'>PMID 21249144 </ref>. Ankrd1 expression is increased in patients with left ventricular dilated and ischemic cardiomyopathies <ref name='ninteen'>PMID 12054667  </ref>, and it has been identified as a candidate gene with a role in congenital heart disease <ref name='twenty'>PMID 18273862 </ref>.