KEGG   Homo sapiens (human): 90550
Entry
90550             CDS       T01001                                 

Gene name
MCU, C10orf42, CCDC109A, HsMCU
Definition
(RefSeq) mitochondrial calcium uniporter
  KO
K20858  calcium uniporter protein, mitochondrial
Organism
hsa  Homo sapiens (human)
Pathway
hsa04020  Calcium signaling pathway
hsa04218  Cellular senescence
hsa04621  NOD-like receptor signaling pathway
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
Network
nt06410  Calcium signaling
nt06460  Alzheimer disease
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
  Element
N00957  Mutation-caused abberant ATXN2/3 to mGluR5-Ca2+ -apoptotic pathway
N00967  VGCC-Ca2+ -apoptotic pathway
N00984  mGluR5-Ca2+ -apoptotic pathway
N00985  Mutation-caused aberrant Htt to mGluR5-Ca2+ -apoptotic pathway
N00987  Mutation-caused aberrant Htt to transport of calcium
N01000  mAChR-Ca2+ -apoptotic pathway
N01001  Mutation-caused aberrant Abeta to mAchR-Ca2+ -apoptotic pathway
N01002  Mutation-caused aberrant Abeta to mGluR5-Ca2+ -apoptotic pathway
N01003  Mutation-caused aberrant Abeta to transport of calcium
N01004  Mutation-caused aberrant Abeta to VGCC-Ca2+ -apoptotic pathway
N01007  Mutation-caused aberrant PSEN to mGluR5-Ca2+ -apoptotic pathway
N01008  Mutation-caused aberrant PSEN1 to mGluR5-Ca2+ -apoptotic pathway
N01031  Mutation-caused aberrant SNCA to VGCC-Ca2+ -apoptotic pathway
N01151  Mutation-inactivated SIGMAR1 to Ca2+ -apoptotic pathway
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04020 Calcium signaling pathway
    90550 (MCU)
 09140 Cellular Processes
  09143 Cell growth and death
   04218 Cellular senescence
    90550 (MCU)
 09150 Organismal Systems
  09151 Immune system
   04621 NOD-like receptor signaling pathway
    90550 (MCU)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    90550 (MCU)
   05012 Parkinson disease
    90550 (MCU)
   05014 Amyotrophic lateral sclerosis
    90550 (MCU)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    90550 (MCU)
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    90550 (MCU)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial protein import machinery
  Inner mambrane
   Mitochondrial calcium uniporter complex
    90550 (MCU)
Transporters [BR:hsa02000]
 Other transporters
  Pores ion channels [TC:1]
   90550 (MCU)
SSDB
Motif
Pfam: MCU SPX
Other DBs
NCBI-GeneID: 90550
NCBI-ProteinID: NP_612366
OMIM: 614197
HGNC: 23526
Ensembl: ENSG00000156026
Vega: OTTHUMG00000018443
Pharos: Q8NE86(Tbio)
UniProt: Q8NE86
LinkDB
Structure
PDB: 

Position
10q22.1
AA seq 351 aa
MAAAAGRSLLLLLSSRGGGGGGAGGCGALTAGCFPGLGVSRHRQQQHHRTVHQRIASWQN
LGAVYCSTVVPSDDVTVVYQNGLPVISVRLPSRRERCQFTLKPISDSVGVFLRQLQEEDR
GIDRVAIYSPDGVRVAASTGIDLLLLDDFKLVINDLTYHVRPPKRDLLSHENAATLNDVK
TLVQQLYTTLCIEQHQLNKERELIERLEDLKEQLAPLEKVRIEISRKAEKRTTLVLWGGL
AYMATQFGILARLTWWEYSWDIMEPVTYFITYGSAMAMYAYFVMTRQEYVYPEARDRQYL
LFFHKGAKKSRFDLEKYNQLKDAIAQAEMDLKRLRDPLQVHLPLRQIGEKD
NT seq 1056 nt   +upstreamnt  +downstreamnt
atggcggccgccgcaggtagatcgctcctgctgctcctctcctctcggggcggcggcggc
gggggcgccggcggctgcggggcgctgactgccggctgcttccctgggctgggcgtcagc
cgccaccggcagcagcagcaccaccggacggtacaccagaggatcgcttcctggcagaat
ttgggagctgtttattgcagcactgttgtgccctctgatgatgttacagtggtttatcaa
aatgggttacctgtgatatctgtgaggctaccatcccggcgtgaacgctgtcagttcaca
ctcaagcctatctctgactctgttggtgtatttttacgacaactgcaagaagaggatcgg
ggaattgacagagttgctatctattcaccagatggtgttcgcgttgctgcttcaacagga
atagacctcctcctccttgatgactttaagctggtcattaatgacttaacataccacgta
cgaccaccaaaaagagacctcttaagtcatgaaaatgcagcaacgctgaatgatgtaaag
acattggtccagcaactatacaccacactgtgcattgagcagcaccagttaaacaaggaa
agggagcttattgaaagactagaggatctcaaagagcagctggctcccctggaaaaggta
cgaattgagattagcagaaaagctgagaagaggaccactttggtgctatggggtggcctt
gcctacatggccacacagtttggcattttggcccggcttacctggtgggaatattcctgg
gacatcatggagccagtaacatacttcatcacttatggaagtgccatggcaatgtatgca
tattttgtaatgacacgccaggaatatgtttatccagaagccagagacagacaatactta
ctatttttccataaaggagccaaaaagtcacgttttgacctagagaaatacaatcaactc
aaggatgcaattgctcaggcagaaatggaccttaagagactgagagacccattacaagta
catctgcctctccgacaaattggtgaaaaagattga

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