KEGG   Homo sapiens (human): 10939
Entry
10939             CDS       T01001                                 
Symbol
AFG3L2, OPA12, SCA28, SPAX5
Name
(RefSeq) AFG3 like matrix AAA peptidase subunit 2
  KO
K08956  AFG3 family protein [EC:3.4.24.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa05017  Spinocerebellar ataxia
Disease
H00063  Spinocerebellar ataxia (SCA)
H01020  Optic atrophy
H01351  Spastic ataxia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative disease
   05017 Spinocerebellar ataxia
    10939 (AFG3L2)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01002 Peptidases and inhibitors [BR:hsa01002]
    10939 (AFG3L2)
  09182 Protein families: genetic information processing
   03110 Chaperones and folding catalysts [BR:hsa03110]
    10939 (AFG3L2)
Peptidases and inhibitors [BR:hsa01002]
 Metallo peptidases
  Family M41: FtsH endopeptidase family
   10939 (AFG3L2)
Chaperones and folding catalysts [BR:hsa03110]
 Other chaperones and cochaperones
  AAA proteases
   10939 (AFG3L2)
SSDB
Motif
Pfam: Peptidase_M41 AAA AAA_lid_3 FtsH_ext AAA_22 RuvB_N AAA_5 AAA_16 TIP49 nSTAND3 AAA_17 AAA_14 AAA_2 AAA_28 Mg_chelatase IstB_IS21 AAA_33 gpW
Other DBs
NCBI-GeneID: 10939
NCBI-ProteinID: NP_006787
OMIM: 604581
HGNC: 315
Ensembl: ENSG00000141385
UniProt: Q9Y4W6 Q8TA92
Structure
Position
18:complement(12328944..12377227)
AA seq 797 aa
MAHRCLRLWGRGGCWPRGLQQLLVPGGVGPGEQPCLRTLYRFVTTQARASRNSLLTDIIA
AYQRFCSRPPKGFEKYFPNGKNGKKASEPKEVMGEKKESKPAATTRSSGGGGGGGGKRGG
KKDDSHWWSRFQKGDIPWDDKDFRMFFLWTALFWGGVMFYLLLKRSGREITWKDFVNNYL
SKGVVDRLEVVNKRFVRVTFTPGKTPVDGQYVWFNIGSVDTFERNLETLQQELGIEGENR
VPVVYIAESDGSFLLSMLPTVLIIAFLLYTIRRGPAGIGRTGRGMGGLFSVGETTAKVLK
DEIDVKFKDVAGCEEAKLEIMEFVNFLKNPKQYQDLGAKIPKGAILTGPPGTGKTLLAKA
TAGEANVPFITVSGSEFLEMFVGVGPARVRDLFALARKNAPCILFIDEIDAVGRKRGRGN
FGGQSEQENTLNQLLVEMDGFNTTTNVVILAGTNRPDILDPALLRPGRFDRQIFIGPPDI
KGRASIFKVHLRPLKLDSTLEKDKLARKLASLTPGFSGADVANVCNEAALIAARHLSDSI
NQKHFEQAIERVIGGLEKKTQVLQPEEKKTVAYHEAGHAVAGWYLEHADPLLKVSIIPRG
KGLGYAQYLPKEQYLYTKEQLLDRMCMTLGGRVSEEIFFGRITTGAQDDLRKVTQSAYAQ
IVQFGMNEKVGQISFDLPRQGDMVLEKPYSEATARLIDDEVRILINDAYKRTVALLTEKK
ADVEKVALLLLEKEVLDKNDMVELLGPRPFAEKSTYEEFVEGTGSLDEDTSLPEGLKDWN
KEREKEKEEPPGEKVAN
NT seq 2394 nt   +upstreamnt  +downstreamnt
atggcgcaccgctgtttgcggctgtggggccggggcggctgctggccccgcggcctacag
cagctcctcgtgcctggcggcgtgggcccgggcgagcagccctgcctccggacgctttac
cgatttgttacaactcaagcaagggccagcagaaattctcttttgacagatataattgct
gcttatcaaagattctgttctcgacccccaaaaggatttgaaaaatactttcctaatgga
aaaaatggaaaaaaagctagtgaacctaaagaagttatgggagagaaaaaagaatcaaag
ccagctgctaccacacgctcttctggaggaggaggtggtggcggtggaaaacgaggtggc
aagaaagatgattctcactggtggtccaggtttcagaagggtgacattccatgggacgac
aaggatttcaggatgttcttcctctggactgctctgttctggggtggagtcatgttttac
ttgctgctcaagagatccgggagagaaatcacttggaaggactttgtcaataactatctt
tcaaaaggagtagtagacagattggaagtcgtcaacaagcgttttgttcgagtgaccttt
acaccaggaaaaactcctgttgatgggcaatacgtttggtttaatattggcagtgtggac
acctttgaacggaatctggaaactttacagcaggaattgggcatagaaggagaaaatcgg
gtgcctgttgtctacattgctgaaagtgatggctcttttctgctgagcatgctgcctacg
gtgctcatcatcgccttcttgctctacaccatcagaagagggcctgctggcattggccgg
acaggccgagggatgggcggactcttcagtgtcggagaaaccactgccaaggtcttaaag
gatgaaattgatgtgaagttcaaagatgtggctggctgtgaggaggccaagctagagatc
atggaatttgtgaatttcttgaaaaacccaaagcagtatcaagacctaggagcaaaaatc
ccaaagggtgccattctcactggtcctccaggcactgggaagacgctgctagctaaggcc
acagccggagaagccaatgtccccttcatcaccgttagtggatctgagtttttggagatg
ttcgttggtgtgggccctgctagagtccgagacttatttgcccttgctcggaagaatgcc
ccttgcatcctcttcatcgatgaaatcgatgcggtgggaaggaagagaggaagaggcaac
tttggagggcagagtgagcaggagaacacactcaaccagctgctggtggagatggatggt
tttaatacaacaacaaatgtcgtcattttggccggcaccaatcgaccagatatcctggac
cccgcgctgcttaggccggggcgtttcgacaggcagatctttattggaccaccagacata
aaaggaagagcttctattttcaaagttcatctccgaccgctaaaactggacagtaccctg
gagaaggataaattggcaagaaaactggcatctttaactccagggttttcaggtgctgat
gttgctaatgtctgtaatgaagctgcgttgattgctgcaaggcatctgtcagattccata
aatcagaaacactttgaacaggcaattgaacgagtgattggtggcttagagaagaaaacg
caggttctgcagcctgaggagaagaagactgtggcataccacgaagcaggccatgcggtt
gccggctggtatctggagcacgcagacccgcttttaaaggtatccatcatcccacgtggc
aaaggactaggttatgctcagtatttaccaaaagaacaatacctctataccaaagagcag
ctcttggataggatgtgtatgactttaggtggtcgagtctctgaagaaatcttctttgga
agaattacaactggtgctcaagatgacttgagaaaagtaactcagagtgcatatgcccaa
attgttcagtttggcatgaatgaaaaggttgggcaaatctcctttgacctcccacgtcag
ggggacatggtattggagaaaccttacagtgaagccactgcaagattgatagatgatgaa
gtacgaatacttattaatgatgcttataaaagaacagtagctcttctcacagaaaagaaa
gctgacgtggagaaggttgctcttctgttgttagaaaaagaagtattagataagaatgat
atggttgaacttttgggccccagaccatttgcggaaaaatctacctatgaagaatttgtg
gaaggcactggcagcttggatgaggacacctcacttccagaaggccttaaggactggaac
aaggagcgggaaaaggagaaagaggagcccccgggtgagaaagttgccaactag

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Ontology (3)   
   KEGG BRITE (3)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (7)   
   KEGG DISEASE (3)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (51)   
   KEGG ORTHOLOGY (1)   
   RefGene (18)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (27)   
   OC (1)   
Protein sequence (6)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (17)   
   RefSeq(nuc) (3)   
   GenBank (7)   
   EMBL (7)   
3D Structure (2)   
   PDB (2)   
Protein domain (18)   
   Pfam (18)   
All databases (106)   

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