KEGG   Homo sapiens (human): 4976
Entry
4976              CDS       T01001                                 
Symbol
OPA1, BERHS, MGM1, MTDPS14, NPG, NTG, largeG
Name
(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
Pharos: O60313(Tbio)
UniProt: O60313
Structure
Position
3:193593208..193697811
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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Ontology (3)   
   KEGG BRITE (3)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (8)   
   KEGG DISEASE (2)   
   OMIM (6)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (20)   
   KEGG ORTHOLOGY (1)   
   RefGene (8)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (5)   
   OC (1)   
   PHAROS (1)   
Protein sequence (22)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (20)   
DNA sequence (40)   
   RefSeq(nuc) (20)   
   GenBank (10)   
   EMBL (10)   
3D Structure (1)   
   PDB (1)   
Protein domain (10)   
   Pfam (10)   
All databases (107)   

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