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|---|---|
| Accession Number: | O60313 |
| Protein Name: | Dynamin-like 120 kDa protein, mitochondrial |
| Length: | 960 |
| Molecular Weight: | 111631.00 |
| Species: | Homo sapiens (Human) [9606] |
| Number of TMSs: | 1 |
| Location1 / Topology2 / Orientation3: | Mitochondrion inner membrane1 / Single-pass membrane protein2 |
| Substrate | |
Cross database links:
| RefSeq: | NP_056375.2 NP_570849.2 |
|---|---|
| Entrez Gene ID: | 4976 |
| Pfam: | PF00350 |
| OMIM: |
125250 phenotype 165500 phenotype 605290 gene |
| KEGG: | hsa:4976 |
Gene Ontology
GO:0030425
C:dendrite
GO:0016021
C:integral to membrane
GO:0030061
C:mitochondrial crista
GO:0005758
C:mitochondrial intermembrane space
GO:0005741
C:mitochondrial outer membrane
GO:0005525
F:GTP binding
GO:0003924
F:GTPase activity
GO:0000287
F:magnesium ion binding
GO:0006915
P:apoptosis
GO:0019896
P:axon transport of mitochondrion
GO:0007007
P:inner mitochondrial membrane organization
GO:0000266
P:mitochondrial fission
GO:0008053
P:mitochondrial fusion
GO:0045768
P:positive regulation of anti-apoptosis
GO:0050896
P:response to stimulus
GO:0007601
P:visual perception
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References (22)[1] “Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.” Nagase T.et.al. 9628581 [2] “The DNA sequence, annotation and analysis of human chromosome 3.” Muzny D.M.et.al. 16641997 [3] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).” The MGC Project Teamet.al. 15489334 [4] “Mutation spectrum and splicing variants in the OPA1 gene.” Delettre C.et.al. 11810270 [5] “Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.” Delettre C.et.al. 11017079 [6] “OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.” Alexander C.et.al. 11017080 [7] “Regulation of mitochondrial morphology through proteolytic cleavage of OPA1.” Ishihara N.et.al. 16778770 [8] “Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.” Yu L.-R.et.al. 17924679 [9] “Lysine acetylation targets protein complexes and co-regulates major cellular functions.” Choudhary C.et.al. 19608861 [10] “OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.” Pesch U.E.A.et.al. 11440988 [11] “Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.” Toomes C.et.al. 11440989 [12] “A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.” Thiselton D.L.et.al. 12036970 [13] “A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy.” Shimizu S.et.al. 12566046 [14] “Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.” Baris O.et.al. 14961560 [15] “Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1.” Payne M.et.al. 15531309 [16] “Dominant optic atrophy: correlation between clinical and molecular genetic studies.” Puomila A.et.al. 15948788 [17] “OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.” Amati-Bonneau P.et.al. 16240368 [18] “OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy.” Han J.et.al. 16617242 | |
| Structure: | |
External Searches:
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Analyze:
| Predict TMSs (Predict number of transmembrane segments) | ||||
| FASTA formatted sequence |
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1: MWRLRRAAVA CEVCQSLVKH SSGIKGSLPL QKLHLVSRSI YHSHHPTLKL QRPQLRTSFQ 61: QFSSLTNLPL RKLKFSPIKY GYQPRRNFWP ARLATRLLKL RYLILGSAVG GGYTAKKTFD 121: QWKDMIPDLS EYKWIVPDIV WEIDEYIDFE KIRKALPSSE DLVKLAPDFD KIVESLSLLK 181: DFFTSGSPEE TAFRATDRGS ESDKHFRKVS DKEKIDQLQE ELLHTQLKYQ RILERLEKEN 241: KELRKLVLQK DDKGIHHRKL KKSLIDMYSE VLDVLSDYDA SYNTQDHLPR VVVVGDQSAG 301: KTSVLEMIAQ ARIFPRGSGE MMTRSPVKVT LSEGPHHVAL FKDSSREFDL TKEEDLAALR 361: HEIELRMRKN VKEGCTVSPE TISLNVKGPG LQRMVLVDLP GVINTVTSGM APDTKETIFS 421: ISKAYMQNPN AIILCIQDGS VDAERSIVTD LVSQMDPHGR RTIFVLTKVD LAEKNVASPS 481: RIQQIIEGKL FPMKALGYFA VVTGKGNSSE SIEAIREYEE EFFQNSKLLK TSMLKAHQVT 541: TRNLSLAVSD CFWKMVRESV EQQADSFKAT RFNLETEWKN NYPRLRELDR NELFEKAKNE 601: ILDEVISLSQ VTPKHWEEIL QQSLWERVST HVIENIYLPA AQTMNSGTFN TTVDIKLKQW 661: TDKQLPNKAV EVAWETLQEE FSRFMTEPKG KEHDDIFDKL KEAVKEESIK RHKWNDFAED 721: SLRVIQHNAL EDRSISDKQQ WDAAIYFMEE ALQARLKDTE NAIENMVGPD WKKRWLYWKN 781: RTQEQCVHNE TKNELEKMLK CNEEHPAYLA SDEITTVRKN LESRGVEVDP SLIKDTWHQV 841: YRRHFLKTAL NHCNLCRRGF YYYQRHFVDS ELECNDVVLF WRIQRMLAIT ANTLRQQLTN 901: TEVRRLEKNV KEVLEDFAED GEKKIKLLTG KRVQLAEDLK KVREIQEKLD AFIEALHQEK