Homo sapiens Gene: ALMS1
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
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:73385758-73610793
Strand Forward strand
Band p13.1
Transcripts
ENST00000423048 ENSP00000399833
ENST00000484298 ENSP00000478155
ENST00000476650
ENST00000464408
ENST00000490821
ENST00000613296 ENSP00000482968
ENST00000614410 ENSP00000479094
ENST00000620466
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
Experimentally validated
Total 11 [view]
Protein-Protein 11 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0005515 protein binding
Biological Process
GO:0000086 G2/M transition of mitotic cell cycle
GO:0000278 mitotic cell cycle
GO:0016197 endosomal transport
GO:0051492 regulation of stress fiber assembly
Cellular Component
GO:0000922 spindle pole
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005814 centriole
GO:0005829 cytosol
GO:0005929 cilium
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Loss of Nlp from mitotic centrosomes pathway
Recruitment of mitotic centrosome proteins and complexes pathway
Regulation of PLK1 Activity at G2/M Transition pathway
Cell Cycle pathway
Centrosome maturation pathway
G2/M Transition pathway
Cell Cycle, Mitotic pathway
Loss of proteins required for interphase microtubule organization√?¬†from the centrosome pathway
Mitotic G2-G2/M phases pathway
KEGG
INOH
PID BIOCARTA
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