Homo sapiens (human): 10939
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Peptidase_M41
AAA
AAA_lid_3
FtsH_ext
AAA_22
RuvB_N
AAA_5
AAA_16
TIP49
nSTAND3
gpW
AAA_14
AAA_2
AAA_17
AAA_28
Mg_chelatase
AAA_33
IstB_IS21
ThcOx
Motif
Other DBs
NCBI-GeneID:
10939
NCBI-ProteinID:
NP_006787
OMIM:
604581
HGNC:
315
Ensembl:
ENSG00000141385
UniProt:
Q9Y4W6
Q8TA92
Structure
PDB
PDBj
LinkDB
All DBs
Position
18:complement(12328944..12377227)
Genome browser
AA seq
797 aa
AA seq
DB search
MAHRCLRLWGRGGCWPRGLQQLLVPGGVGPGEQPCLRTLYRFVTTQARASRNSLLTDIIA
AYQRFCSRPPKGFEKYFPNGKNGKKASEPKEVMGEKKESKPAATTRSSGGGGGGGGKRGG
KKDDSHWWSRFQKGDIPWDDKDFRMFFLWTALFWGGVMFYLLLKRSGREITWKDFVNNYL
SKGVVDRLEVVNKRFVRVTFTPGKTPVDGQYVWFNIGSVDTFERNLETLQQELGIEGENR
VPVVYIAESDGSFLLSMLPTVLIIAFLLYTIRRGPAGIGRTGRGMGGLFSVGETTAKVLK
DEIDVKFKDVAGCEEAKLEIMEFVNFLKNPKQYQDLGAKIPKGAILTGPPGTGKTLLAKA
TAGEANVPFITVSGSEFLEMFVGVGPARVRDLFALARKNAPCILFIDEIDAVGRKRGRGN
FGGQSEQENTLNQLLVEMDGFNTTTNVVILAGTNRPDILDPALLRPGRFDRQIFIGPPDI
KGRASIFKVHLRPLKLDSTLEKDKLARKLASLTPGFSGADVANVCNEAALIAARHLSDSI
NQKHFEQAIERVIGGLEKKTQVLQPEEKKTVAYHEAGHAVAGWYLEHADPLLKVSIIPRG
KGLGYAQYLPKEQYLYTKEQLLDRMCMTLGGRVSEEIFFGRITTGAQDDLRKVTQSAYAQ
IVQFGMNEKVGQISFDLPRQGDMVLEKPYSEATARLIDDEVRILINDAYKRTVALLTEKK
ADVEKVALLLLEKEVLDKNDMVELLGPRPFAEKSTYEEFVEGTGSLDEDTSLPEGLKDWN
KEREKEKEEPPGEKVAN
NT seq
2394 nt
NT seq
+upstream
nt +downstream
nt
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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