KEGG   Homo sapiens (human): 4976
Entry
4976              CDS       T01001                                 

Gene name
OPA1, BERHS, MGM1, MTDPS14, NPG, NTG, largeG
Definition
(RefSeq) OPA1 mitochondrial dynamin like GTPase
  KO
K17079  optic atrophy protein 1 [EC:3.6.5.5]
Organism
hsa  Homo sapiens (human)
Pathway
hsa05017  Spinocerebellar ataxia
Disease
H00469  Mitochondrial DNA depletion syndrome
H01020  Optic atrophy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative disease
   05017 Spinocerebellar ataxia
    4976 (OPA1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    4976 (OPA1)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.6  Acting on acid anhydrides
   3.6.5  Acting on GTP to facilitate cellular and subcellular movement
    3.6.5.5  dynamin GTPase
     4976 (OPA1)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitochondrial dynamics
   Fission and Fusion factors
    4976 (OPA1)
SSDB
Motif
Pfam: OPA1_C Dynamin_N MMR_HSR1 FeoB_N DUF1593 Roc DUF2267 Ephrin_rec_like KxDL NPV_P10
Other DBs
NCBI-GeneID: 4976
NCBI-ProteinID: NP_056375
OMIM: 605290
HGNC: 8140
Ensembl: ENSG00000198836
Vega: OTTHUMG00000149897
Pharos: O60313(Tbio)
UniProt: O60313
LinkDB
Position
3q29
AA seq 960 aa
MWRLRRAAVACEVCQSLVKHSSGIKGSLPLQKLHLVSRSIYHSHHPTLKLQRPQLRTSFQ
QFSSLTNLPLRKLKFSPIKYGYQPRRNFWPARLATRLLKLRYLILGSAVGGGYTAKKTFD
QWKDMIPDLSEYKWIVPDIVWEIDEYIDFEKIRKALPSSEDLVKLAPDFDKIVESLSLLK
DFFTSGSPEETAFRATDRGSESDKHFRKVSDKEKIDQLQEELLHTQLKYQRILERLEKEN
KELRKLVLQKDDKGIHHRKLKKSLIDMYSEVLDVLSDYDASYNTQDHLPRVVVVGDQSAG
KTSVLEMIAQARIFPRGSGEMMTRSPVKVTLSEGPHHVALFKDSSREFDLTKEEDLAALR
HEIELRMRKNVKEGCTVSPETISLNVKGPGLQRMVLVDLPGVINTVTSGMAPDTKETIFS
ISKAYMQNPNAIILCIQDGSVDAERSIVTDLVSQMDPHGRRTIFVLTKVDLAEKNVASPS
RIQQIIEGKLFPMKALGYFAVVTGKGNSSESIEAIREYEEEFFQNSKLLKTSMLKAHQVT
TRNLSLAVSDCFWKMVRESVEQQADSFKATRFNLETEWKNNYPRLRELDRNELFEKAKNE
ILDEVISLSQVTPKHWEEILQQSLWERVSTHVIENIYLPAAQTMNSGTFNTTVDIKLKQW
TDKQLPNKAVEVAWETLQEEFSRFMTEPKGKEHDDIFDKLKEAVKEESIKRHKWNDFAED
SLRVIQHNALEDRSISDKQQWDAAIYFMEEALQARLKDTENAIENMVGPDWKKRWLYWKN
RTQEQCVHNETKNELEKMLKCNEEHPAYLASDEITTVRKNLESRGVEVDPSLIKDTWHQV
YRRHFLKTALNHCNLCRRGFYYYQRHFVDSELECNDVVLFWRIQRMLAITANTLRQQLTN
TEVRRLEKNVKEVLEDFAEDGEKKIKLLTGKRVQLAEDLKKVREIQEKLDAFIEALHQEK
NT seq 2883 nt   +upstreamnt  +downstreamnt
atgtggcgactacgtcgggccgctgtggcctgtgaggtctgccagtctttagtgaaacac
agctctggaataaaaggaagtttaccactacaaaaactacatctggtttcacgaagcatt
tatcattcacatcatcctaccttaaagcttcaacgaccccaattaaggacatcctttcag
cagttctcttctctgacaaaccttcctttacgtaaactgaaattctctccaattaaatat
ggctaccagcctcgcaggaatttttggccagcaagattagctacgagactcttaaaactt
cgctatctcatactaggatcggctgttgggggtggctacacagccaaaaagacttttgat
cagtggaaagatatgataccggaccttagtgaatataaatggattgtgcctgacattgtg
tgggaaattgatgagtatatcgattttgagaaaattagaaaagcccttcctagttcagaa
gaccttgtaaagttagcaccagactttgacaagattgttgaaagccttagcttattgaag
gacttttttacctcaggttctccggaagaaacggcgtttagagcaacagatcgtggatct
gaaagtgacaagcattttagaaaggtgtcagacaaagagaaaattgaccaacttcaggaa
gaacttctgcacactcagttgaagtatcagagaatcttggaacgattagaaaaggagaac
aaagaattgagaaaattagtattgcagaaagatgacaaaggcattcatcatagaaagctt
aagaaatctttgattgacatgtattctgaagttcttgatgttctctctgattatgatgcc
agttataatacgcaagatcatctgccacgggttgttgtggttggagatcagagtgctgga
aagactagtgtgttggaaatgattgcccaagctcgaatattcccaagaggatctggggag
atgatgacacgttctccagttaaggtgactctgagtgaaggtcctcaccatgtggcccta
tttaaagatagttctcgggagtttgatcttaccaaagaagaagatcttgcagcattaaga
catgaaatagaacttcgaatgaggaaaaatgtgaaagaaggctgtaccgttagccctgag
accatatccttaaatgtaaaaggccctggactacagaggatggtgcttgttgacttacca
ggtgtgattaatactgtgacatcaggcatggctcctgacacaaaggaaactattttcagt
atcagcaaagcttacatgcagaatcctaatgccatcatactgtgtattcaagatggatct
gtggatgctgaacgcagtattgttacagacttggtcagtcaaatggaccctcatggaagg
agaaccatattcgttttgaccaaagtagacctggcagagaaaaatgtagccagtccaagc
aggattcagcagataattgaaggaaagctcttcccaatgaaagctttaggttattttgct
gttgtaacaggaaaagggaacagctctgaaagcattgaagctataagagaatatgaagaa
gagttttttcagaattcaaagctcctaaagacaagcatgctaaaggcacaccaagtgact
acaagaaatttaagccttgcagtatcagactgcttttggaaaatggtacgagagtctgtt
gaacaacaggctgatagtttcaaagcaacacgttttaaccttgaaactgaatggaagaat
aactatcctcgcctgcgggaacttgaccggaatgaactatttgaaaaagctaaaaatgaa
atccttgatgaagttatcagtctgagccaggttacaccaaaacattgggaggaaatcctt
caacaatctttgtgggaaagagtatcaactcatgtgattgaaaacatctaccttccagct
gcgcagaccatgaattcaggaacttttaacaccacagtggatatcaagcttaaacagtgg
actgataaacaacttcctaataaagcagtagaggttgcttgggagaccctacaagaagaa
ttttcccgctttatgacagaaccgaaagggaaagagcatgatgacatatttgataaactt
aaagaggctgttaaggaagaaagtattaaacgacacaagtggaatgactttgcggaggac
agcttgagggttattcaacacaatgctttggaagaccgatccatatctgataaacagcaa
tgggatgcagctatttattttatggaagaggctctgcaggctcgtctcaaggatactgaa
aatgcaattgaaaacatggtgggtccagactggaaaaagaggtggttatactggaagaat
cggacccaagaacagtgtgttcacaatgaaaccaagaatgaattggagaagatgttgaaa
tgtaatgaggagcacccagcttatcttgcaagtgatgaaataaccacagtccggaagaac
cttgaatcccgaggagtagaagtagatccaagcttgattaaggatacttggcatcaagtt
tatagaagacattttttaaaaacagctctaaaccattgtaacctttgtcgaagaggtttt
tattactaccaaaggcattttgtagattctgagttggaatgcaatgatgtggtcttgttt
tggcgtatacagcgcatgcttgctatcaccgcaaatactttaaggcaacaacttacaaat
actgaagttaggcgattagagaaaaatgttaaagaggtattggaagattttgctgaagat
ggtgagaagaagattaaattgcttactggtaaacgcgttcaactggcggaagacctcaag
aaagttagagaaattcaagaaaaacttgatgctttcattgaagctcttcatcaggagaaa
taa

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