KEGG   Homo sapiens (human): 5193
Entry
5193              CDS       T01001                                 

Gene name
PEX12, PAF-3, PBD3A
Definition
(RefSeq) peroxisomal biogenesis factor 12
  KO
K13345  peroxin-12
Organism
hsa  Homo sapiens (human)
Pathway
hsa04146  Peroxisome
Disease
H00205  Peroxisome biogenesis disorder
H01342  Zellweger syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04146 Peroxisome
    5193 (PEX12)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04121 Ubiquitin system [BR:hsa04121]
    5193 (PEX12)
Ubiquitin system [BR:hsa04121]
 Ubiquitin ligases (E3)
  Single Ring-finger type E3
   Peripheral membrane proteins
    5193 (PEX12)
SSDB
Motif
Pfam: Pex2_Pex12 zf-C3HC4_3 zf-C3HC4_2 zf-RING_2 zf-C3HC4 DZR_2
Other DBs
NCBI-GeneID: 5193
NCBI-ProteinID: NP_000277
OMIM: 601758
HGNC: 8854
Ensembl: ENSG00000108733
Vega: OTTHUMG00000132951
Pharos: O00623(Tbio)
UniProt: O00623
LinkDB
Position
17q12
AA seq 359 aa
MAEHGAHFTAASVADDQPSIFEVVAQDSLMTAVRPALQHVVKVLAESNPTHYGFLWRWFD
EIFTLLDLLLQQHYLSRTSASFSENFYGLKRIVMGDTHKSQRLASAGLPKQQLWKSIMFL
VLLPYLKVKLEKLVSSLREEDEYSIHPPSSRWKRFYRAFLAAYPFVNMAWEGWFLVQQLR
YILGKAQHHSPLLRLAGVQLGRLTVQDIQALEHKPAKASMMQQPARSVSEKINSALKKAV
GGVALSLSTGLSVGVFFLQFLDWWYSSENQETIKSLTALPTPPPPVHLDYNSDSPLLPKM
KTVCPLCRKTRVNDTVLATSGYVFCYRCVFHYVRSHQACPITGYPTEVQHLIKLYSPEN
NT seq 1080 nt   +upstreamnt  +downstreamnt
atggctgagcacggggctcacttcacagctgcttctgtggccgatgaccagccatccatc
tttgaggtggtagcacaggacagtttaatgacagcagtgagacccgctcttcagcatgtg
gtcaaggttcttgcagaatcaaatcccacccactatggcttcttgtggaggtggtttgat
gaaatctttactctgctagatcttctgctccagcaacattatctgtctagaaccagtgcc
tcattttctgaaaacttttacggcttaaagagaattgtaatgggggacactcacaagtct
cagagattggctagtgctggtctcccaaagcagcagctttggaaatctattatgttcctg
gttcttcttccctatctgaaagtgaagctggagaagctggtttctagcctgagagaagag
gatgaatattctattcatcccccttcttcccgctggaaacgattttacagagctttcctg
gcagcctacccatttgtgaacatggcctgggaaggatggtttcttgtacaacaacttcga
tacatcctaggaaaagctcagcatcactcaccactgctgaggctggctggagttcagcta
ggtcgactgacagttcaggatatacaagctctggagcacaaaccagctaaggccagcatg
atgcagcaaccagccaggagtgttagtgagaagataaactcagctctgaagaaagctgtt
gggggtgttgccttatccctgtctactggcctttctgtgggtgtattcttcttgcagttc
cttgactggtggtactcatctgaaaatcaagaaaccatcaagtcattgactgccctgcct
actccaccaccacctgtacacctagactataactctgattctcccctcttacccaaaatg
aagactgtgtgcccactgtgtcgtaaaacccgggtgaatgatactgttcttgccacctct
ggctatgtgttttgttaccgctgtgtgtttcattatgtgaggagtcaccaagcttgtccc
atcacaggttatccaacagaagtacaacatctgattaaactctactcccctgagaactga

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