KEGG   Homo sapiens (human): 56616
Entry
56616             CDS       T01001                                 
Symbol
DIABLO, DFNA64, SMAC
Name
(RefSeq) diablo IAP-binding mitochondrial protein
  KO
K10522  diablo
Organism
hsa  Homo sapiens (human)
Pathway
hsa04210  Apoptosis
hsa04215  Apoptosis - multiple species
Disease
H00604  Deafness, autosomal dominant
Drug target
Xevinapant: D12565
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09143 Cell growth and death
   04215 Apoptosis - multiple species
    56616 (DIABLO)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04121 Ubiquitin system [BR:hsa04121]
    56616 (DIABLO)
   03029 Mitochondrial biogenesis [BR:hsa03029]
    56616 (DIABLO)
Ubiquitin system [BR:hsa04121]
 Ubiquitin ligases (E3)
  Multi subunit type E3
   Cul3 complex
    Adoptor and target recognizing subunit (BTB)
     56616 (DIABLO)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitochondrial dynamics
   Retention of mitochondria
    56616 (DIABLO)
SSDB
Motif
Pfam: Smac_DIABLO DUF7426
Other DBs
NCBI-GeneID: 56616
NCBI-ProteinID: NP_063940
OMIM: 605219
HGNC: 21528
Ensembl: ENSG00000184047
UniProt: Q9NR28 A0A0S2Z5U7
Structure
Position
12:complement(122207662..122227456)
AA seq 239 aa
MAALKSWLSRSVTSFFRYRQCLCVPVVANFKKRCFSELIRPWHKTVTIGFGVTLCAVPIA
QKSEPHSLSSEALMRRAVSLVTDSTSTFLSQTTYALIEAITEYTKAVYTLTSLYRQYTSL
LGKMNSEEEDEVWQVIIGARAEMTSKHQEYLKLETTWMTAVGLSEMAAEAAYQTGADQAS
ITARNHIQLVKLQVEEVHQLSRKAETKLAEAQIEELRQKTQEEGEERAESEQEAYLRED
NT seq 720 nt   +upstreamnt  +downstreamnt
atggcggctctgaagagttggctgtcgcgcagcgtaacttcattcttcaggtacagacag
tgtttgtgtgttcctgttgtggctaactttaagaagcggtgtttctcagaattgataaga
ccatggcacaaaactgtgacgattggctttggagtaaccctgtgtgcggttcctattgca
cagaaatcagagcctcattcccttagtagtgaagcattgatgaggagagcagtgtctttg
gtaacagatagcacctctacctttctctctcagaccacatatgcgttgattgaagctatt
actgaatatactaaggctgtttataccttaacttctctttaccgacaatatacaagttta
cttgggaaaatgaattcagaggaggaagatgaagtgtggcaggtgatcataggagccaga
gctgagatgacttcaaaacaccaagagtacttgaagctggaaaccacttggatgactgca
gttggtctttcagagatggcagcagaagctgcatatcaaactggcgcagatcaggcctct
ataaccgccaggaatcacattcagctggtgaaactgcaggtggaagaggtgcaccagctc
tcccggaaagcagaaaccaagctggcagaagcacagatagaagagctccgtcagaaaaca
caggaggaaggggaggagcgggctgagtcggagcaggaggcctacctgcgtgaggattga

  All links  
Disease (2)   
   OMIM (2)   
Gene (16)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (8)   
   OC (1)   
Protein sequence (10)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (7)   
DNA sequence (58)   
   RefSeq(nuc) (8)   
   GenBank (25)   
   EMBL (25)   
3D Structure (16)   
   PDB (16)   
Protein domain (2)   
   Pfam (2)   
All databases (104)   

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