UniProt functional annotation for Q7Z4I7



	UniProt functional annotation for Q7Z4I7

UniProt code: Q7Z4I7.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Adapter protein in a cytoplasmic complex linking beta- integrins to the actin cytoskeleton, bridges the complex to cell surface receptor tyrosine kinases and growth factor receptors. Plays a role in modulating cell spreading and migration. {ECO:0000269|PubMed:12167643}.

Subunit: Interacts with TGFB1I1 (By similarity). Interacts with integrin-linked protein kinase 1 (ILK) via the first LIM domain, and in competition with LIMS1. Part of the heterotrimeric IPP complex composed of integrin-linked kinase (ILK), LIMS1 or LIMS2, and PARVA. {ECO:0000250, ECO:0000269|PubMed:12167643, ECO:0000269|PubMed:19963065}.

Subcellular location: Nucleus {ECO:0000305}. Cell junction, focal adhesion {ECO:0000269|PubMed:12167643}. Cell membrane {ECO:0000269|PubMed:12167643}; Peripheral membrane protein {ECO:0000269|PubMed:12167643}; Cytoplasmic side {ECO:0000269|PubMed:12167643}.

Disease: Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue (MDRCMTT) [MIM:616827]: An autosomal recessive muscular dystrophy characterized by childhood-onset of muscle weakness progressing to a severe quadriparesis. Additionally, patients have biventricular cardiac dysfunction due to dilated cardiomyopathy, and macroglossia with a small tip resulting in a triangular tongue. {ECO:0000269|PubMed:25589244}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Sequence caution: Sequence=AAM77350.1; Type=Frameshift; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Adapter protein in a cytoplasmic complex linking beta- integrins to the actin cytoskeleton, bridges the complex to cell surface receptor tyrosine kinases and growth factor receptors. Plays a role in modulating cell spreading and migration. {ECO:0000269\|PubMed:12167643}.


Subunit:		Interacts with TGFB1I1 (By similarity). Interacts with integrin-linked protein kinase 1 (ILK) via the first LIM domain, and in competition with LIMS1. Part of the heterotrimeric IPP complex composed of integrin-linked kinase (ILK), LIMS1 or LIMS2, and PARVA. {ECO:0000250, ECO:0000269\|PubMed:12167643, ECO:0000269\|PubMed:19963065}.
Subcellular location:		Nucleus {ECO:0000305}. Cell junction, focal adhesion {ECO:0000269\|PubMed:12167643}. Cell membrane {ECO:0000269\|PubMed:12167643}; Peripheral membrane protein {ECO:0000269\|PubMed:12167643}; Cytoplasmic side {ECO:0000269\|PubMed:12167643}.
Disease:		Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue (MDRCMTT) [MIM:616827]: An autosomal recessive muscular dystrophy characterized by childhood-onset of muscle weakness progressing to a severe quadriparesis. Additionally, patients have biventricular cardiac dysfunction due to dilated cardiomyopathy, and macroglossia with a small tip resulting in a triangular tongue. {ECO:0000269\|PubMed:25589244}. Note=The disease may be caused by variants affecting the gene represented in this entry.
Sequence caution:		Sequence=AAM77350.1; Type=Frameshift; Evidence={ECO:0000305};