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- Table of Contents
Facts about Signal-induced proliferation-associated 1-like protein 3.
Human | |
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Gene Name: | SIPA1L3 |
Uniprot: | O60292 |
Entrez: | 23094 |
Belongs to: |
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No superfamily |
KIAA0545; Signal-Induced Proliferation-Associated 1 Like 3; Signal-Induced Proliferation-Associated 1-Like Protein 3; SIPA1-Like Protein 3; SPA-1-Like 3; SPA-1-Like Protein 3; SPAL3
Mass (kDA):
194.61 kDA
Human | |
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Location: | 19q13.13-q13.2 |
Sequence: | 19; NC_000019.10 (37906822..38208369) |
Apical cell membrane. Detected in tricellular junctions. Colocalizes with apical F-actin.
PMID: 25804400 by Evers C., et al. SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.
PMID: 26231217 by Greenlees R., et al. Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization.