Hmdb loader
Identification
HMDB Protein ID HMDBP13986
Secondary Accession Numbers None
Name Protein unc-80 homolog
Synonyms Not Available
Gene Name UNC80
Protein Type Unknown
Biological Properties
General Function Not Available
Specific Function Component of the NALCN sodium channel complex, required for channel regulation. This complex is a cation channel activated by neuropeptides substance P, neurotensin, and extracellular calcium that regulates neuronal excitability by controlling the sizes of NALCN-dependent sodium-leak current. UNC80 is essential for NALCN sensitivity to extracellular calcium.
Pathways Not Available
Reactions Not Available
GO Classification
Biological Process
cation homeostasis
ion transmembrane transport
Cellular Component
plasma membrane
cation channel complex
axon
Molecular Function
cation channel activity
Cellular Location Not Available
Gene Properties
Chromosome Location Not Available
Locus Not Available
SNPs Not Available
Gene Sequence Not Available
Protein Properties
Number of Residues 3258
Molecular Weight 363386.995
Theoretical pI 6.852
Pfam Domain Function
Signals Not Available
Transmembrane Regions
  • 2268-2288;2398-2418;2785-2805;2831-2851;
Protein Sequence Not Available
GenBank ID Protein Not Available
UniProtKB/Swiss-Prot ID Q8N2C7
UniProtKB/Swiss-Prot Entry Name UNC80_HUMAN
PDB IDs Not Available
GenBank Gene ID Not Available
GeneCard ID Not Available
GenAtlas ID Not Available
HGNC ID Not Available
References
General References
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  6. Perez Y, Kadir R, Volodarsky M, Noyman I, Flusser H, Shorer Z, Gradstein L, Birnbaum RY, Birk OS: UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN. J Med Genet. 2016 Jun;53(6):397-402. doi: 10.1136/jmedgenet-2015-103352. Epub 2015 Nov 6. [PubMed:26545877 ]
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