KEGG   Homo sapiens (human): 6687
Entry
6687              CDS       T01001                                 
Symbol
SPG7, CAR, CMAR, PGN, SPG5C
Name
(RefSeq) SPG7 matrix AAA peptidase subunit, paraplegin
  KO
K09552  spastic paraplegia 7 [EC:3.4.24.-]
Organism
hsa  Homo sapiens (human)
Disease
H00266  Hereditary spastic paraplegia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01002 Peptidases and inhibitors [BR:hsa01002]
    6687 (SPG7)
  09182 Protein families: genetic information processing
   03110 Chaperones and folding catalysts [BR:hsa03110]
    6687 (SPG7)
Peptidases and inhibitors [BR:hsa01002]
 Metallo peptidases
  Family M41: FtsH endopeptidase family
   6687 (SPG7)
Chaperones and folding catalysts [BR:hsa03110]
 Other chaperones and cochaperones
  AAA proteases
   6687 (SPG7)
SSDB
Motif
Pfam: Peptidase_M41 AAA AAA_lid_3 FtsH_ext AAA_5 AAA_17 nSTAND3 RuvB_N AAA_22 AAA_16 AAA_2 Mg_chelatase IstB_IS21 TIP49 AAA_28 ABC_tran PglZ AAA_14 NACHT RNA_helicase
Other DBs
NCBI-GeneID: 6687
NCBI-ProteinID: NP_003110
OMIM: 602783
HGNC: 11237
Ensembl: ENSG00000197912
UniProt: Q9UQ90
Structure
Position
16:89508388..89557768
AA seq 795 aa
MAVLLLLLRALRRGPGPGPRPLWGPGPAWSPGFPARPGRGRPYMASRPPGDLAEAGGRAL
QSLQLRLLTPTFEGINGLLLKQHLVQNPVRLWQLLGGTFYFNTSRLKQKNKEKDKSKGKA
PEEDEEERRRRERDDQMYRERLRTLLVIAVVMSLLNALSTSGGSISWNDFVHEMLAKGEV
QRVQVVPESDVVEVYLHPGAVVFGRPRLALMYRMQVANIDKFEEKLRAAEDELNIEAKDR
IPVSYKRTGFFGNALYSVGMTAVGLAILWYVFRLAGMTGREGGFSAFNQLKMARFTIVDG
KMGKGVSFKDVAGMHEAKLEVREFVDYLKSPERFLQLGAKVPKGALLLGPPGCGKTLLAK
AVATEAQVPFLAMAGPEFVEVIGGLGAARVRSLFKEARARAPCIVYIDEIDAVGKKRSTT
MSGFSNTEEEQTLNQLLVEMDGMGTTDHVIVLASTNRADILDGALMRPGRLDRHVFIDLP
TLQERREIFEQHLKSLKLTQSSTFYSQRLAELTPGFSGADIANICNEAALHAAREGHTSV
HTLNFEYAVERVLAGTAKKSKILSKEEQKVVAFHESGHALVGWMLEHTEAVMKVSITPRT
NAALGFAQMLPRDQHLFTKEQLFERMCMALGGRASEALSFNEVTSGAQDDLRKVTRIAYS
MVKQFGMAPGIGPISFPEAQEGLMGIGRRPFSQGLQQMMDHEARLLVAKAYRHTEKVLQD
NLDKLQALANALLEKEVINYEDIEALIGPPPHGPKKMIAPQRWIDAQREKQDLGEEETEE
TQQPPLGGEEPTWPK
NT seq 2388 nt   +upstreamnt  +downstreamnt
atggccgtgctgctgctgctgctccgtgccctccgccggggtccaggcccgggtcctcgg
ccgctgtggggcccaggcccggcctggagtccagggttccccgccaggcccgggaggggg
cggccgtacatggccagcaggcctccgggggacctcgccgaggctggaggccgagctctg
cagagcttacaattgagactgctaacccctacctttgaagggatcaacggattgttgttg
aaacaacatttagttcagaatccagtcagactctggcaacttttaggtggtactttctat
tttaacacctcaaggttgaagcagaagaataaggagaaggataagtcgaaggggaaggcg
cctgaagaggacgaagaggagaggagacgccgtgagcgggacgaccagatgtaccgagag
cggctgcgcaccttgctggtcatcgcggttgtcatgagcctcctgaatgctctcagcacc
agcggaggcagcatttcctggaacgactttgtccacgagatgctggccaagggcgaggtg
cagcgcgtccaggtggtgcctgagagcgacgtggtggaagtctacctgcaccctggagcc
gtggtgtttgggcggcctcggctagccttgatgtaccgaatgcaggttgcaaatattgac
aagtttgaagagaagcttcgagcagctgaagatgagctgaatatcgaggccaaggacagg
atcccagtttcctacaagcgaacaggattctttggaaatgccctgtactctgtggggatg
acggcagtgggcctggccatcctgtggtatgttttccgtctggccgggatgactggaagg
gaaggtggattcagtgcttttaatcagcttaaaatggctcgtttcaccattgtggatggg
aagatggggaaaggagtcagcttcaaagacgtggcaggaatgcacgaagccaaactggaa
gtccgcgagtttgtggattatctgaagagcccagaacgcttcctccagcttggcgccaag
gtcccaaagggcgcactgctgctcggcccccccggctgtgggaagacgctgctggccaag
gcggtggccacggaggctcaggtgcccttcctggcgatggccggcccagagttcgtggag
gtcattggaggcctcggcgctgcccgtgtgcggagcctctttaaggaagcccgagcccgg
gccccctgcatcgtctacatcgatgagatcgacgcggtgggcaagaagcgctccaccacc
atgtccggcttctccaacacggaggaggagcagacgctcaaccagcttctggtagaaatg
gatggaatgggtaccacagaccatgtcatcgtcctggcgtccacgaaccgagctgacatt
ttggacggtgctctgatgaggccaggccgactggaccggcacgtcttcattgatctcccc
acgctgcaggagaggcgggagatttttgagcagcacctgaagagcctgaagctgacccag
tccagcaccttttactcccagcgtctggcagagctgacaccaggattcagtggggctgac
atcgccaacatctgcaatgaggctgcgctgcacgcggcgcgggagggacacacttccgtg
cacactctcaacttcgagtacgccgtggagcgcgtcctcgcagggactgccaaaaagagc
aagatcctgtccaaggaagaacagaaagtggttgcgtttcatgagtcgggccacgccttg
gtgggctggatgctggagcacacggaggccgtgatgaaggtctccataacccctcggaca
aacgccgccctgggctttgctcagatgctccccagagaccagcacctcttcaccaaggag
cagctgtttgagcggatgtgcatggccctgggaggacgggcctcggaagcactgtccttc
aacgaggtcacttctggggcacaggacgacctgaggaaggtcacccgcatcgcctactcc
atggtgaagcagtttgggatggcacctggcatcgggcccatctccttccctgaggcgcag
gagggcctcatgggcatcgggcggcgccccttcagccaaggcctgcagcagatgatggac
catgaagcaagactgctggtggccaaggcctacagacacaccgagaaggtgctgcaggac
aacctggacaagttgcaggcgctggcaaacgcccttctggaaaaggaagtgataaactat
gaggacattgaggctctcattggcccgccgccccatgggccgaagaaaatgatcgcaccg
cagaggtggatcgacgcccagagggagaaacaggacttgggcgaggaggagaccgaagag
acccagcagcctccacttggaggcgaagagccgacttggcccaagtag

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Ontology (3)   
   KEGG BRITE (3)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (22)   
   KEGG ORTHOLOGY (1)   
   RefGene (13)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (16)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (14)   
DNA sequence (46)   
   RefSeq(nuc) (14)   
   GenBank (16)   
   EMBL (16)   
3D Structure (1)   
   PDB (1)   
Protein domain (20)   
   Pfam (20)   
All databases (112)   

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