GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00001947
Main curator
Courtier
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
able to synthesise cholesterol de novo
Trait State in Taxon B
unable to synthesise cholesterol de novo
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
human
Synonyms
human; man; Homo sapiens Linnaeus, 1758; Home sapiens; Homo sampiens; Homo sapeins; Homo sapian; Homo sapians; Homo sapien; Homo sapience; Homo sapiense; Homo sapients; Homo sapines; Homo spaiens; Homo spiens; Humo sapiens
Rank
species
Lineage
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opterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini; Hominoidea; Hominidae; Homininae; Homo
Parent
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
-
Synonyms
roundworm; Rhabditis elegans; Caenorhabditis elegans (Maupas, 1900); Rhabditis elegans Maupas, 1900
Rank
species
Lineage
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s; Eukaryota; Opisthokonta; Metazoa; Eumetazoa; Bilateria; Protostomia; Ecdysozoa; Nematoda; Chromadorea; Rhabditida; Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae; Caenorhabditis
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
FDFT1
Synonyms
SS; SQS; DGPT; ERG9; SQSD
String
Sequence Similarities
Belongs to the phytoene/squalene synthase family.
GO - Molecular Function
GO:0046872 : metal ion binding
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GO - Biological Process
GO:0006695 : cholesterol biosynthetic process
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GO - Cellular Component
GO:0016021 : integral component of membrane
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UniProtKB
Homo sapiens
Homo sapiens
Presumptive Null
Molecular Type
Aberration Type
Deletion Size
unknown
Molecular Details of the Mutation
gene absent in the genome
Experimental Evidence
Main Reference
Authors
Kurzchalia TV; Ward S
Abstract
Cholesterol is a structural component of animal membranes that influences fluidity, permeability and formation of lipid microdomains. It is also a precursor to signalling molecules, including mammalian steroid hormones and insect ecdysones. The nematode Caenorhabditis elegans requires too little cholesterol for it to have a major role in membrane structure. Instead, its most probable signalling functions are to control molting and induce a specialized non-feeding larval stage, although no cholesterol-derived signalling molecule has yet been identified for these or any other functions.
RELATED GEPHE
Related Haplotypes
EXTERNAL LINKS
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