UniProt functional annotation for Q13813



	UniProt functional annotation for Q13813

UniProt code: Q13813.

Organism: Homo sapiens (Human).

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

Function: Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane.

Subunit: Like erythrocyte spectrin, the spectrin-like proteins are capable of forming dimers which can further associate to tetramers. Interacts (via C-terminal spectrin repeats) with TRPC4. Interacts with CALM and EMD. Interacts with isoform 1 of ACP1. Identified in a complex with ACTN4, CASK, IQGAP1, MAGI2, NPHS1 and SPTBN1. Interacts with SHANK3 (via ANK repeats). Interacts with CLN3; this interaction regulates the fodrin localization at the plasma membrane (Probable). {ECO:0000269|PubMed:11971983, ECO:0000269|PubMed:15328537, ECO:0000269|PubMed:16945920, ECO:0000269|PubMed:18048348, ECO:0000305|PubMed:18621045}.

Subcellular location: Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Note=Expressed along the cell membrane in podocytes and presumptive tubule cells during glomerulogenesis and is expressed along lateral cell margins in tubule cells. {ECO:0000250}.

Ptm: Phosphorylation of Tyr-1176 decreases sensitivity to cleavage by calpain in vitro. {ECO:0000250}.

Disease: Developmental and epileptic encephalopathy 5 (DEE5) [MIM:613477]: A disorder characterized by seizures associated with hypsarrhythmia, profound mental retardation with lack of visual attention and speech development, as well as spastic quadriplegia. {ECO:0000269|PubMed:20493457, ECO:0000269|PubMed:27864847}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the spectrin family. {ECO:0000305}.

Sequence caution: Sequence=BAD93097.1; Type=Erroneous initiation; Note=Extended N-terminus.; 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:		Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane.


Subunit:		Like erythrocyte spectrin, the spectrin-like proteins are capable of forming dimers which can further associate to tetramers. Interacts (via C-terminal spectrin repeats) with TRPC4. Interacts with CALM and EMD. Interacts with isoform 1 of ACP1. Identified in a complex with ACTN4, CASK, IQGAP1, MAGI2, NPHS1 and SPTBN1. Interacts with SHANK3 (via ANK repeats). Interacts with CLN3; this interaction regulates the fodrin localization at the plasma membrane (Probable). {ECO:0000269\|PubMed:11971983, ECO:0000269\|PubMed:15328537, ECO:0000269\|PubMed:16945920, ECO:0000269\|PubMed:18048348, ECO:0000305\|PubMed:18621045}.
Subcellular location:		Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Note=Expressed along the cell membrane in podocytes and presumptive tubule cells during glomerulogenesis and is expressed along lateral cell margins in tubule cells. {ECO:0000250}.
Ptm:		Phosphorylation of Tyr-1176 decreases sensitivity to cleavage by calpain in vitro. {ECO:0000250}.
Disease:		Developmental and epileptic encephalopathy 5 (DEE5) [MIM:613477]: A disorder characterized by seizures associated with hypsarrhythmia, profound mental retardation with lack of visual attention and speech development, as well as spastic quadriplegia. {ECO:0000269\|PubMed:20493457, ECO:0000269\|PubMed:27864847}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the spectrin family. {ECO:0000305}.
Sequence caution:		Sequence=BAD93097.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};