InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KPTN

Summary

InnateDB Protein

IDBP-59576.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

KPTN

Protein Name

kaptin (actin binding protein)

Synonyms

2E4; MRT41;

Species

Homo sapiens

Ensembl Protein

ENSP00000337850

InnateDB Gene

IDBG-59574 (KPTN)

Protein Structure

UniProt Annotation

Function

Necessary for normal neuromorphogenesis. May be involved in actin dynamics. May play a role in producing the sensory apparatus in hair cells. May play a role in actin rearrangements that accompany platelet activation and stereocilia formation. {ECO:0000269PubMed:10099934, ECO:0000269PubMed:1372044, ECO:0000269PubMed:24239382}.

Subcellular Localization

Cytoplasm. Cytoplasm, perinuclear region. Cell projection, stereocilium. Cell projection, growth cone. Note=Perinuclear at the tips of stereocilium in the inner ear. Localized at sites of actin polymerization in motile fibroblasts and neuronal growth cones.

Disease Associations

Mental retardation, autosomal recessive 41 (MRT41) [MIM:615637]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT41 most consistent features are global developmental delay, macrocephaly with frontal bossing, high levels of anxiety, and some features suggestive of a pervasive developmental disorder. Less common features include fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly. {ECO:0000269PubMed:24239382}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.

Experimentally validated
Total	9 [view]
Protein-Protein	8 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding

Biological Process

GO:0006928	cellular component movement
GO:0007015	actin filament organization
GO:0007605	sensory perception of sound

Cellular Component

GO:0005634	nucleus
GO:0005815	microtubule organizing center
GO:0015629	actin cytoskeleton
GO:0030426	growth cone
GO:0032420	stereocilium
GO:0048471	perinuclear region of cytoplasm