KEGG   Homo sapiens (human): 5190
Entry
5190              CDS       T01001                                 
Symbol
PEX6, HMLR2, PAF-2, PAF2, PBD4A, PDB4B, PXAAA1
Name
(RefSeq) peroxisomal biogenesis factor 6
  KO
K13339  peroxin-6
Organism
hsa  Homo sapiens (human)
Pathway
hsa04146  Peroxisome
Disease
H00177  Neonatal adrenoleukodystrophy
H00204  Heimler syndrome
H00205  Peroxisome biogenesis disorder
H01342  Zellweger syndrome
H01575  Roifman syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04146 Peroxisome
    5190 (PEX6)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    5190 (PEX6)
Membrane trafficking [BR:hsa04131]
 Autophagy
  Pexophagy
   Other pexophagy associated proteins
    5190 (PEX6)
SSDB
Motif
Pfam: AAA AAA_16 AAA_5 AAA_11 NACHT AAA_lid_3 RuvB_N AAA_22 AAA_33 AAA_25 nSTAND3 TsaE RNA_helicase AAA_19 AAA_17 TIP49 AAA_28 Mg_chelatase AAA_18 AAA_7 AAA_14 Rad17 Vps4_C IstB_IS21 bpMoxR DUF815 Parvo_NS1 SLFN-g3_helicase PhoH
Other DBs
NCBI-GeneID: 5190
NCBI-ProteinID: NP_000278
OMIM: 601498
HGNC: 8859
Ensembl: ENSG00000124587
UniProt: Q13608
Position
6:complement(42963865..42979181)
AA seq 980 aa
MALAVLRVLEPFPTETPPLAVLLPPGGPWPAAELGLVLALRPAGESPAGPALLVAALEGP
DAGTEEQGPGPPQLLVSRALLRLLALGSGAWVRARAVRRPPALGWALLGTSLGPGLGPRV
GPLLVRRGETLPVPGPRVLETRPALQGLLGPGTRLAVTELRGRARLCPESGDSSRPPPPP
VVSSFAVSGTVRRLQGVLGGTGDSLGVSRSCLRGLGLFQGEWVWVAQARESSNTSQPHLA
RVQVLEPRWDLSDRLGPGSGPLGEPLADGLALVPATLAFNLGCDPLEMGELRIQRYLEGS
IAPEDKGSCSLLPGPPFARELHIEIVSSPHYSTNGNYDGVLYRHFQIPRVVQEGDVLCVP
TIGQVEILEGSPEKLPRWREMFFKVKKTVGEAPDGPASAYLADTTHTSLYMVGSTLSPVP
WLPSEESTLWSSLSPPGLEALVSELCAVLKPRLQPGGALLTGTSSVLLRGPPGCGKTTVV
AAACSHLGLHLLKVPCSSLCAESSGAVETKLQAIFSRARRCRPAVLLLTAVDLLGRDRDG
LGEDARVMAVLRHLLLNEDPLNSCPPLMVVATTSRAQDLPADVQTAFPHELEVPALSEGQ
RLSILRALTAHLPLGQEVNLAQLARRCAGFVVGDLYALLTHSSRAACTRIKNSGLAGGLT
EEDEGELCAAGFPLLAEDFGQALEQLQTAHSQAVGAPKIPSVSWHDVGGLQEVKKEILET
IQLPLEHPELLSLGLRRSGLLLHGPPGTGKTLLAKAVATECSLTFLSVKGPELINMYVGQ
SEENVREVFARARAAAPCIIFFDELDSLAPSRGRSGDSGGVMDRVVSQLLAELDGLHSTQ
DVFVIGATNRPDLLDPALLRPGRFDKLVFVGANEDRASQLRVLSAITRKFKLEPSVSLVN
VLDCCPPQLTGADLYSLCSDAMTAALKRRVHDLEEGLEPGSSALMLTMEDLLQAAARLQP
SVSEQELLRYKRIQRKFAAC
NT seq 2943 nt   +upstreamnt  +downstreamnt
atggcgctggctgtcttgcgggtcctggagccctttccgaccgagacacccccgttggca
gtgctgctgccacccgggggcccgtggccggcggcggagctgggcctggtgctggccctg
aggcctgcaggggagagcccggcagggccggcgctgctggtggcagccctggaggggccg
gacgcgggcaccgaagagcagggtcccgggccgccgcagctactggttagccgcgcgctg
ctgcggctcctggcactgggctccggggcctgggtgcgggcgcgggcggtgcggcggccc
ccggcgctaggttgggcactgcttggcacctcgctggggcctgggctcggaccgcgagtc
gggccgctgctggtgaggcgcggagagaccctcccagtgcccggaccgcgggtgctggag
acgcggccggcgttgcaagggctgctgggcccagggactcggctggctgtgactgagctc
cgcgggcgggccagactgtgtccagagtctggggacagcagtcggcccccacccccgccc
gtggtgtcctcctttgcggtttctggcacagtgcggcgactccagggagttctgggaggg
actggagattcactaggggtgagccggagctgtctccgtggccttggcctcttccagggc
gaatgggtgtgggtggcccaggccagagagtcatcgaacacttcacagccgcacttggct
agggtgcaggtcctagaacctcgctgggacctctctgatagactgggacccggctctgga
ccgctgggagagcccctcgctgacggactggcgcttgtccctgccactttggcttttaat
cttggctgtgaccccctggaaatgggagagctcagaattcagaggtacttggaaggctcc
atcgcccctgaagacaaaggaagctgctcattgctgcctgggcctccatttgccagagag
ttacacatcgaaattgtgtcttctccccactacagcactaatggaaattatgacggtgtt
ctttaccggcactttcagatacccagggtagtccaggaaggggatgttctatgtgtgcca
acaattgggcaagtagagatcctggaaggaagtccagagaaactgcccaggtggcgggaa
atgttttttaaagtgaagaaaacagttggggaagctccagatggaccagccagtgcctac
ttggccgacaccacccatacctccttgtacatggtgggttctaccctgagccctgttcca
tggctcccttcagaggaatccactctctggagcagtttgtctcctccaggcctggaggcc
ttggtgtctgaactctgtgctgtcctgaagcctcgcctccagccagggggtgccctgctg
acaggaactagcagtgtccttctacggggccccccaggctgtgggaagaccacagtagtt
gctgctgcctgtagtcaccttgggctccacttactgaaggtgccctgctccagcctctgt
gcagaaagtagtggggctgtggagacaaaactgcaggccatcttctcccgggcccgccgt
tgccggcctgcagtcctgttgctcacagctgtggaccttctgggccgggaccgtgatggg
ctgggtgaggatgcccgtgtgatggctgtgctgcgtcacctcctcctcaatgaggacccc
ctcaacagctgccctcccctcatggttgtggccaccacaagccgggcccaggacctgcct
gctgatgtgcagacagcatttcctcatgagctcgaggtgcctgctctgtcagaggggcag
cggctcagcatcctgcgggccctcactgcccaccttcccctgggccaggaggtgaacttg
gcacagctagcacggcggtgtgcaggctttgtggtaggggatctctatgcccttctgacc
cacagcagccgggcagcctgcaccaggatcaagaactcaggtttggcaggtggcttgact
gaggaggatgagggggagctgtgtgctgccggctttcctctcctggctgaggactttggg
caggcactggagcaactgcagacagctcactcccaggccgttggagcccccaagatcccc
tcagtgtcctggcatgatgtgggtgggctgcaggaggtgaagaaggagatcctggagacc
attcagctccccctggagcaccctgagctactgagcctgggcctgagacgctcaggcctt
ctgctccatgggccccctggcaccggcaagacccttctggccaaggcagtagccactgag
tgcagccttaccttcctcagcgtgaaggggccagagctcattaacatgtatgtgggccaa
agtgaggagaatgtgcgggaagtgtttgccagggccagggctgcagctccatgcattatc
ttctttgatgaactggactctttggccccaagccgggggcgaagtggagattctggagga
gtgatggacagggtggtgtctcagctccttgccgagctagatgggctgcacagcactcag
gatgtgtttgtgattggagccaccaacagaccagatctcctggaccctgcccttctgcgg
cctggcagatttgacaagctggtgtttgtgggggcaaatgaggaccgggcctcccagcta
cgcgttctaagtgccatcacacgcaaattcaagctagagccatctgtgagcctggtaaac
gtgctagattgctgccctccccagctgacgggcgcggacctctactctctctgctctgat
gctatgacagctgccctcaaacgcagggttcatgacctggaggaagggctggagccaggt
agctcagcactgatgctcaccatggaggacttgctgcaggctgccgcccggctgcaaccc
tcagtcagtgagcaggagctgctccggtacaagcgcatccagcgcaagtttgctgcctgc
tag

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (9)   
   KEGG DISEASE (5)   
   OMIM (4)   
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 (10)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (8)   
DNA sequence (33)   
   RefSeq(nuc) (9)   
   GenBank (12)   
   EMBL (12)   
Protein domain (29)   
   Pfam (29)   
All databases (107)   

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