KEGG   Homo sapiens (human): 10939Help
Entry
10939             CDS       T01001                                 

Gene name
AFG3L2, SCA28, SPAX5
Definition
(RefSeq) AFG3 like matrix AAA peptidase subunit 2
  KO
K08956  AFG3 family protein [EC:3.4.24.-]
Organism
hsa  Homo sapiens (human)
Disease
H00063  Spinocerebellar ataxia (SCA)
H01351  Spastic ataxia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 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)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.4  Acting on peptide bonds (peptidases)
   3.4.24  Metalloendopeptidases
    3.4.24.-  
     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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Peptidase_M41 AAA AAA_lid_3 FtsH_ext AAA_22 RuvB_N AAA_5 AAA_16 AAA_2 TIP49 IstB_IS21 Mg_chelatase AAA_33 AAA_28 gpW
Motif
Other DBs
NCBI-GeneID: 10939
NCBI-ProteinID: NP_006787
OMIM: 604581
HGNC: 315
Ensembl: ENSG00000141385
Vega: OTTHUMG00000131695
Pharos: Q9Y4W6(Tbio)
UniProt: Q9Y4W6 Q8TA92
Structure
PDB: 

Position
18p11.21
AA seq 797 aa AA seqDB search
MAHRCLRLWGRGGCWPRGLQQLLVPGGVGPGEQPCLRTLYRFVTTQARASRNSLLTDIIA
AYQRFCSRPPKGFEKYFPNGKNGKKASEPKEVMGEKKESKPAATTRSSGGGGGGGGKRGG
KKDDSHWWSRFQKGDIPWDDKDFRMFFLWTALFWGGVMFYLLLKRSGREITWKDFVNNYL
SKGVVDRLEVVNKRFVRVTFTPGKTPVDGQYVWFNIGSVDTFERNLETLQQELGIEGENR
VPVVYIAESDGSFLLSMLPTVLIIAFLLYTIRRGPAGIGRTGRGMGGLFSVGETTAKVLK
DEIDVKFKDVAGCEEAKLEIMEFVNFLKNPKQYQDLGAKIPKGAILTGPPGTGKTLLAKA
TAGEANVPFITVSGSEFLEMFVGVGPARVRDLFALARKNAPCILFIDEIDAVGRKRGRGN
FGGQSEQENTLNQLLVEMDGFNTTTNVVILAGTNRPDILDPALLRPGRFDRQIFIGPPDI
KGRASIFKVHLRPLKLDSTLEKDKLARKLASLTPGFSGADVANVCNEAALIAARHLSDSI
NQKHFEQAIERVIGGLEKKTQVLQPEEKKTVAYHEAGHAVAGWYLEHADPLLKVSIIPRG
KGLGYAQYLPKEQYLYTKEQLLDRMCMTLGGRVSEEIFFGRITTGAQDDLRKVTQSAYAQ
IVQFGMNEKVGQISFDLPRQGDMVLEKPYSEATARLIDDEVRILINDAYKRTVALLTEKK
ADVEKVALLLLEKEVLDKNDMVELLGPRPFAEKSTYEEFVEGTGSLDEDTSLPEGLKDWN
KEREKEKEEPPGEKVAN
NT seq 2394 nt NT seq  +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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