| Gene Symbol |
ALMS1
|
| Entrez Gene |
7840
|
| Alt Symbol |
ALSS
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
Alstrom syndrome protein 1
|
| Other Description |
Alstrom syndrome 1
|
| Swissprots |
Q8TCU4 Q53S05 Q9Y4G4 Q86VP9 Q580Q8
|
| Accessions |
AAX82023 AAY24208 AJF45347 EAW99728 EAW99729 EAW99730 EAW99731 Q8TCU4 AB002326 BAA20786 AJ417593 CAD10391 AL832273 AL833495 AX751581 CAE11759 BC035025 AAH35025 BC050330 AAH50330 BX647706 BX648632 EF151141 ABL96615 NM_015120 NP_055935
|
| Function |
Involved in PCM1-dependent intracellular transport. Required, directly or indirectly, for the localization of NCAPD2 to the proximal ends of centrioles. Required for proper formation and/or maintenance of primary cilia (PC), microtubule-based structures that protrude from the surface of epithelial cells. {ECO:0000269|PubMed:17954613}.
|
| Subcellular Location |
Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, spindle pole. Note=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.
|
| Tissue Specificity |
Expressed in all tissues tested including adipose and pancreas. Expressed by beta-cells of the islets in the pancreas (at protein level). {ECO:0000269|PubMed:11941369, ECO:0000269|PubMed:11941370}.
|