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- Table of Contents
Facts about Alstrom syndrome protein 1.
Required for proper formation and/or maintenance of primary cilia (PC), microtubule-based structures that protrude from the surface of epithelial cells. .
Human | |
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Gene Name: | ALMS1 |
Uniprot: | Q8TCU4 |
Entrez: | 7840 |
Belongs to: |
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No superfamily |
Alstrom syndrome 1; Alstrom syndrome protein 1; DKFZp686A118; DKFZp686D1828; KIAA0328ALSS
Mass (kDA):
461.062 kDA
Human | |
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Location: | 2p13.1 |
Sequence: | 2; NC_000002.12 (73385758..73609919) |
Expressed in all tissues tested including adipose and pancreas. Expressed by beta-cells of the islets in the pancreas (at protein level).
Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, spindle pole. Associated with centrosomes and basal bodies at the base of primary cilia. Specifically locates to the proximal ends of centrioles and basal bodies. Colocalizes partially with NCAPD2 at these sites. During mitosis localizes to both spindle poles.
PMID: 11941370 by Hearn T., et al. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome.
PMID: 11941369 by Collin G.B., et al. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome.