Version 5.4
| Homo sapiens Gene: ALMS1 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-56507.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | ALMS1 | ||||||||||||||||||
| Gene Name | Alstrom syndrome 1 | ||||||||||||||||||
| Synonyms | ALSS | ||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000116127 | ||||||||||||||||||
| Encoded Proteins |
Alstrom syndrome 1
Alstrom syndrome 1
Alstrom syndrome 1
Alstrom syndrome 1
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| Protein Structure | |||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
This gene encodes a protein containing a large tandem-repeat domain. The mouse ortholog of this gene has been shown to function in ciliogenesis in inner medullary collecting duct cells. Mutations in this gene have been associated with Alstrom syndrome. Alternative splice variants have been described but their full length sequences have not been determined.[provided by RefSeq, Mar 2009] This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 2:73385758-73610793 | ||||||||||||||||||
| Strand | Forward strand | ||||||||||||||||||
| Band | p13.1 | ||||||||||||||||||
| Transcripts |
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| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||||||||
| NETPATH | |||||||||||||||||||
| REACTOME |
Regulation of PLK1 Activity at G2/M Transition pathway
Loss of Nlp from mitotic centrosomes pathway
Loss of proteins required for interphase microtubule organization� from the centrosome pathway
Recruitment of mitotic centrosome proteins and complexes pathway
Cell Cycle pathway
Centrosome maturation pathway
G2/M Transition pathway
Cell Cycle, Mitotic pathway
Mitotic G2-G2/M phases pathway
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| KEGG | |||||||||||||||||||
| INOH | |||||||||||||||||||
| PID NCI | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | |||||||||||||||||||
| TrEMBL | |||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| UniGene | Hs.184720 Hs.636012 | ||||||||||||||||||
| RefSeq | NM_015120 | ||||||||||||||||||
| HUGO | |||||||||||||||||||
| OMIM | |||||||||||||||||||
| CCDS | CCDS42697 | ||||||||||||||||||
| HPRD | 06023 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | |||||||||||||||||||
| GenPept | |||||||||||||||||||
| RNA Seq Atlas | |||||||||||||||||||