Entity Details

Primary name ALMS1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8TCU4
EntryNameALMS1_HUMAN
FullNameAlstrom syndrome protein 1
TaxID9606
Evidenceevidence at protein level
Length4168
SequenceStatuscomplete
DateCreated2006-03-07
DateModified2021-06-02

Ontological Relatives

GenesALMS1

GO terms

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GOName
GO:0000086 G2/M transition of mitotic cell cycle
GO:0000922 spindle pole
GO:0005813 centrosome
GO:0005829 cytosol
GO:0005929 cilium
GO:0008017 microtubule binding
GO:0010389 regulation of G2/M transition of mitotic cell cycle
GO:0016197 endosomal transport
GO:0046599 regulation of centriole replication
GO:0051492 regulation of stress fiber assembly
GO:0097711 ciliary basal body-plasma membrane docking
GO:0120162 positive regulation of cold-induced thermogenesis

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR028781 Alstrom syndrome protein 1FamilyFamily
IPR029299 ALMS motifDomainDomain
IPR040972 Alstrom syndrome repeatRepeatRepeat

Diseases

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Disease IDSourceNameDescription
203800 OMIMAlstrom syndrome (ALMS)A rare autosomal recessive disorder characterized by progressive cone-rod retinal dystrophy, neurosensory hearing loss, early childhood obesity and diabetes mellitus type 2. Dilated cardiomyopathy, acanthosis nigricans, male hypogonadism, hypothyroidism, developmental delay and hepatic dysfunction can also be associated with the syndrome. The disease is caused by variants affecting the gene represented in this entry.