Group:MUZIC:XIN: Difference between revisions

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'''Xin actin-binding repeat-containing protein 1''' (Alternative ~~name~~: Cardiomyopathy-associated protein 1) is coded by the gene (Synonyms:CMYA1, XIN) and has an actin-binding domain (ABD). It crosslinks actin filaments and participates in anchoring of membrane proteins.

=== Xin actin-binding repeat-containing protein 1 ===

== Introduction ==

'''Xin actin-binding repeat-containing protein 1''' (Alternative names: Cardiomyopathy-associated protein 1, CMYA1, XIN, mXinα) is coded by the gene (Synonyms:CMYA1, XIN) and has an actin-binding domain (ABD). It crosslinks actin filaments and participates in anchoring of membrane proteins. Intraexogic splicing leads to a least three different isoforms (XinA, XinB, XinC).

== Sequence Annotation ==

The largest isoform of Xin actin-binding repeat-containing protein 1, XinA comprises 1843 amino acids and is divided in several domains.At the N-terminus there is proline-rich region including an EVH1 domain-binding consensus motif, which is shown to be functional in binding type I EVH1 domains of the members of the Ena/VASP protein family<ref name="r1">PMID: 16631741</ref>. The following Xin repeats domain consists of 16 copies of the 16 aa-comprising consensus sequence and can bind to F-actin. This domain is followed by the proline-rich region 2,3,4 containing SH3 domain binding motifs. At the C-terminus there is filamin C-specific binding site (FBS)<ref name="r1">PMID: 16631741</ref>.No high resolution structures are available. Cherepanova O. et al discuss conducted EM-studies on Xin-repeats binding to F-actin. <ref name="r2">PMID: 16384582</ref>

Xirp2 encoded by the gene CMYA3 comprisis also Xin-Repeats. [http://www.uniprot.org/uniprot/Q702N8 UNIPROT (XIRP1_HUMAN)] [http://www.uniprot.org/uniprot/A4UGR9 UNIPROT (XIRP2_HUMAN)]

[[Image:Xin.jpg]]

~~== Function ==~~

Figure 1: Schematic overview of XinA. Depicted in red are the prolin-reach (PR) domains 1,2,3 and 4. In yellow the Xin-repeat domain is shown and in green the filamin C-specific binding site.

~~<ref>PMID~~:~~19773341</ref>~~

~~== Interactions with other proteins ==~~

Xin ~~directly binds the EVH1~~ domain ~~proteins Mena~~ and ~~VASP <ref name="pmid16631741">~~.

~~== Clinical significance ==~~

== Function and Interactions ==

Xin localizes at intercalated discs (ICD, structure at the end of the myocytes that transduce force from the myofibrils via the cell membranes to the extracelluar matrix and neighboring cells) in the adult heart and at the myotendinous junction (MTJ) of skeletal muscle tissue.

~~[[1wlh]]~~, ~~[[1qfh]] – FLN rod~~ domain ~~– ''Dictyostelium discoideum''~~<br />

Xin and Mena/VASP colocalize with filamin c in ICDs.

It has been shown that Xin directly binds the EVH1 domain proteins Mena and VASP<ref name="r1">PMID: 16631741</ref>, the unique insertion containing Ig domain 20<ref name="r1">PMID: 16631741</ref> and directly binds F-actin <ref name="r4">PMID: 15454575</ref>.

~~== References =~~=

== Pathology ==

Knock out of all Xin isoforms in mice generates only a mild cardiac phenotype. Wanq Q. et al. review Xin repeat-containing proteins and how this protein family promotes ICD maturation and stability for normal cardiac function<ref name="r5">PMID: 22652799</ref>.

~~http://www.uniprot.org/uniprot/Q702N8~~

== References ==

[[Category: Z-disk]]

@@ Line 1: / Line 1: @@
-'''Xin actin-binding repeat-containing protein 1''' (Alternative name: Cardiomyopathy-associated protein 1) is coded by the gene  (Synonyms:CMYA1, XIN) and has an actin-binding domain (ABD).  It crosslinks actin filaments and participates in anchoring of membrane proteins.
+=== Xin actin-binding repeat-containing protein 1 ===
+== Introduction ==
+'''Xin actin-binding repeat-containing protein 1''' (Alternative names: Cardiomyopathy-associated protein 1, CMYA1, XIN, mXinα) is coded by the gene  (Synonyms:CMYA1, XIN) and has an actin-binding domain (ABD).  It crosslinks actin filaments and participates in anchoring of membrane proteins. Intraexogic splicing leads to a least three different isoforms (XinA, XinB, XinC).
 {{TOC limit|limit=2}}
 == Sequence Annotation ==
+The largest isoform of Xin actin-binding repeat-containing protein 1, XinA comprises 1843 amino acids and is divided in several domains.At the N-terminus there is proline-rich region including an EVH1 domain-binding consensus motif, which is shown to be functional in binding type I EVH1 domains of the members of the Ena/VASP protein family<ref name="r1">PMID: 16631741</ref>. The following Xin repeats domain consists of 16 copies of the 16 aa-comprising consensus sequence and can bind to F-actin. This domain is followed by the  proline-rich region 2,3,4 containing SH3 domain binding motifs. At the C-terminus there is filamin C-specific binding site (FBS)<ref name="r1">PMID: 16631741</ref>.No high resolution structures are available. Cherepanova O. et al discuss conducted EM-studies on Xin-repeats binding to F-actin. <ref name="r2">PMID: 16384582</ref>
+Xirp2 encoded by the gene CMYA3 comprisis also Xin-Repeats. [http://www.uniprot.org/uniprot/Q702N8 UNIPROT (XIRP1_HUMAN)] [http://www.uniprot.org/uniprot/A4UGR9 UNIPROT (XIRP2_HUMAN)]
+[[Image:Xin.jpg]]
-== Function ==
+Figure 1: Schematic overview of XinA. Depicted in red are the prolin-reach (PR) domains 1,2,3 and 4. In yellow the Xin-repeat domain is shown and in green the filamin C-specific binding site.
-<ref>PMID:19773341</ref>
-== Interactions with other proteins ==
-Xin directly binds the EVH1 domain proteins Mena and VASP <ref name="pmid16631741">.
-== Clinical significance ==
+== Function and Interactions ==
+Xin localizes at intercalated discs (ICD, structure at the end of the myocytes that transduce force from the myofibrils via the cell membranes to the extracelluar matrix and neighboring cells)  in the adult heart and at the myotendinous junction (MTJ) of skeletal muscle tissue.
-[[1wlh]], [[1qfh]] – FLN rod domain – ''Dictyostelium discoideum''<br />
+Xin and Mena/VASP colocalize with filamin c in ICDs.
+It has been shown that Xin directly binds the EVH1 domain proteins Mena and VASP<ref name="r1">PMID: 16631741</ref>, the unique insertion containing Ig domain 20<ref name="r1">PMID: 16631741</ref> and directly binds F-actin <ref name="r4">PMID: 15454575</ref>.
-== References ==
+== Pathology ==
+Knock out of all Xin isoforms in mice generates only a mild cardiac phenotype. Wanq Q. et al. review Xin repeat-containing proteins and how this protein family promotes ICD maturation and stability for normal cardiac function<ref name="r5">PMID: 22652799</ref>.
-http://www.uniprot.org/uniprot/Q702N8
 == References ==
 <references />
+[[Category: Z-disk]]