background:
APXL is a 1,616 amino acid protein that localizes to a variety of locations within the cell, including the cytoplasm, the cytoskeleton, the cell junction and the apical cell membrane. Containing one ASD1 domain, one ASD2 domain and one PDZ domain, APXL interacts with F-Actin and is thought to mediate endothelial cell morphology during cell spreading, possibly regulating melanosome biogenesis and inducing γ Tubulin redistribution. APXL is expressed in kidney, brain, lung, pancreas and placenta and is overexpressed in melanomas, suggesting a role in tumor transformation and metastasis. The gene encoding APXL maps to human chromosome X, which contains nearly 153 million base pairs and houses over 1,000 genes. In conjunction with chromosome Y, chromosome X is responsible for sex determination. There are a number of conditions related to an abnormal number and combination of sex chromosomes, some of which include Turner's syndrome, color blindness, hemophilia and Duchenne muscular dystrophy.
Function:
May be involved in endothelial cell morphology changes during cell spreading. In the retinal pigment epithelium, may regulate the biogenesis of melanosomes and promote their association with the apical cell surface by inducing gamma-tubulin redistribution.
Subunit:
Interacts with F-actin (By similarity).
Subcellular Location:
Apical cell membrane (By similarity). Cell junction, tight junction (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=Associates with cortical F-actin (By similarity).
Tissue Specificity:
Abundant in retina and melanoma; also in brain, placenta, lung, kidney and pancreas.
Similarity:
Belongs to the shroom family.
Contains 1 ASD1 domain.
Contains 1 ASD2 domain.
Contains 1 PDZ (DHR) domain.
Database links:
Entrez Gene: 357 Human
Entrez Gene: 110380 Mouse
Entrez Gene: 317435 Rat
Omim: 300103 Human
SwissProt: Q13796 Human
SwissProt: A2ALU4 Mouse
SwissProt: Q7TP36 Rat
Unigene: 567236 Human
Unigene: 40796 Mouse
Unigene: 16033 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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