KEGG   Homo sapiens (human): 5830
Entry
5830              CDS       T01001                                 
Symbol
PEX5, PBD2A, PBD2B, PTS1-BP, PTS1R, PXR1, RCDP5
Name
(RefSeq) peroxisomal biogenesis factor 5
  KO
K13342  peroxin-5
Organism
hsa  Homo sapiens (human)
Pathway
hsa04146  Peroxisome
Disease
H00177  Neonatal adrenoleukodystrophy
H00205  Peroxisome biogenesis disorder
H00207  Rhizomelic chondrodysplasia punctata
H01342  Zellweger syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04146 Peroxisome
    5830 (PEX5)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    5830 (PEX5)
Membrane trafficking [BR:hsa04131]
 Exocytosis
  Small GTPases and associated proteins
   Rab associated proteins
    5830 (PEX5)
SSDB
Motif
Pfam: TPR_1 TPR_2 TPR_11 TPR_17 TPR_8 TPR_16 TPR_14 TPR_19 TPR_12 TPR_7 TPR_9 TPR_20 ANAPC3 TPR_10 PPTA DUF1641
Other DBs
NCBI-GeneID: 5830
NCBI-ProteinID: NP_001124497
OMIM: 600414
HGNC: 9719
Ensembl: ENSG00000139197
UniProt: P50542 A0A0S2Z4H1 B4DR50
Structure
LinkDB
Position
12:7188653..7218574
AA seq 639 aa
MAMRELVEAECGGANPLMKLAGHFTQDKALRQEGLRPGPWPPGAPASEAASKPLGVASED
ELVAEFLQDQNAPLVSRAPQTFKMDDLLAEMQQIEQSNFRQAPQRAPGVADLALSENWAQ
EFLAAGDAVDVTQDYNETDWSQEFISEVTDPLSVSPARWAEEYLEQSEEKLWLGEPEGTA
TDRWYDEYHPEEDLQHTASDFVAKVDDPKLANSEFLKFVRQIGEGQVSLESGAGSGRAQA
EQWAAEFIQQQGTSDAWVDQFTRPVNTSALDMEFERAKSAIESDVDFWDKLQAELEEMAK
RDAEAHPWLSDYDDLTSATYDKGYQFEEENPLRDHPQPFEEGLRRLQEGDLPNAVLLFEA
AVQQDPKHMEAWQYLGTTQAENEQELLAISALRRCLELKPDNQTALMALAVSFTNESLQR
QACETLRDWLRYTPAYAHLVTPAEEGAGGAGLGPSKRILGSLLSDSLFLEVKELFLAAVR
LDPTSIDPDVQCGLGVLFNLSGEYDKAVDCFTAALSVRPNDYLLWNKLGATLANGNQSEE
AVAAYRRALELQPGYIRSRYNLGISCINLGAHREAVEHFLEALNMQRKSRGPRGEGGAMS
ENIWSTLRLALSMLGQSDAYGAADARDLSTLLTMFGLPQ
NT seq 1920 nt   +upstreamnt  +downstreamnt
atggcaatgcgggagctggtggaggccgaatgcgggggtgccaacccgctcatgaagctc
gccgggcacttcacccaggacaaggcccttcggcaggagggattgaggcctggcccctgg
ccccccggagccccggcctctgaggcagcctccaagcctttgggagtagcttctgaagat
gagttggtggctgaattcctgcaggaccagaatgcaccccttgtgtcccgtgcccctcag
accttcaagatggatgacctcctggctgagatgcagcagattgagcagtcaaacttccgc
caggctccccagagagcccctggtgtggcagacttggccttgtctgagaactgggcccag
gagtttcttgcagctggagatgctgtggatgtaactcaggattataatgagactgactgg
tcccaagaattcatctctgaagttacagaccccttgtctgtgtcccctgcccgctgggct
gaggaatatttggagcaatcagaggagaagctgtggctgggagaacctgagggaacagcc
accgatcgctggtatgatgaatatcatcctgaggaggatctgcagcacacggccagtgac
tttgtggccaaagtggatgaccccaaattggctaattctgagttcctgaaattcgtgcgg
cagattggcgaagggcaggtgtccctggagtccggtgcagggtcgggccgagctcaggca
gaacagtgggcagcagagtttatacagcagcagggtacatcagatgcctgggttgaccag
ttcacaagaccagtaaacacatctgcccttgatatggagtttgaacgagccaagtcagct
atagagtctgatgtcgatttctgggacaagttgcaggcagagttggaggagatggcaaaa
cgggatgctgaggcccacccctggctttctgactatgatgaccttacgtcagctacctat
gataaggggtaccagtttgaggaggagaaccccttgcgtgatcaccctcagccttttgaa
gaagggctgcggcgccttcaggagggggacctgccaaatgctgtgctgctttttgaggca
gctgtgcagcaggatcctaagcacatggaagcttggcagtatctgggtaccacccaggca
gagaatgaacaagaactattagccatcagtgcattgcggaggtgtctggagctaaagcca
gataaccagacagcactgatggcgctggctgtgagcttcaccaacgagtccctgcagcga
caggcctgtgaaaccctacgagactggctgcggtacacaccagcctatgcccatctggtg
acacctgctgaagaaggggctggtggggcaggactgggccccagcaagcgtatcctggga
tctctcttgtctgactccctgtttcttgaagtgaaagagctcttcctggcagctgtgcgg
ctggaccctacctccattgaccctgatgtgcagtgtggcttgggagtccttttcaacctg
agtggggagtatgacaaggccgtggactgcttcacagctgccctcagcgttcgtcccaat
gactatttgctgtggaataagctaggcgccaccctggccaatggaaaccagagtgaagaa
gcagtagctgcgtaccgccgggccctcgagctccagcctggctatatccggtcccgctat
aacctgggcatcagctgcatcaacctcggggctcaccgggaggctgtggagcactttctg
gaggccctgaacatgcagaggaaaagccggggcccccggggtgaaggaggtgccatgtcg
gagaacatctggagcaccctgcgtttggcattgtctatgttaggccagagcgatgcctat
ggggcagccgacgcgcgggatctgtccaccctcctaactatgtttggcctgccccagtga

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