KEGG   Homo sapiens (human): 5828
Entry
5828              CDS       T01001                                 

Gene name
PEX2, PAF1, PBD5A, PBD5B, PMP3, PMP35, PXMP3, RNF72, ZWS3
Definition
(RefSeq) peroxisomal biogenesis factor 2
  KO
K06664  peroxin-2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04146  Peroxisome
Disease
H00204  Infantile Refsum disease
H00205  Peroxisome biogenesis disorder
H01342  Zellweger syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04146 Peroxisome
    5828 (PEX2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04121 Ubiquitin system [BR:hsa04121]
    5828 (PEX2)
Ubiquitin system [BR:hsa04121]
 Ubiquitin ligases (E3)
  Single Ring-finger type E3
   Peripheral membrane proteins
    5828 (PEX2)
SSDB
Motif
Pfam: Pex2_Pex12 zf-C3HC4 zf-C3HC4_3 zf-C3HC4_4 Prok-RING_4 zf-C3HC4_2 zf-RING_UBOX zinc-ribbons_6 zf-RING_6 zf-RING_2 zf-RING_5
Other DBs
NCBI-GeneID: 5828
NCBI-ProteinID: NP_000309
OMIM: 170993
HGNC: 9717
Ensembl: ENSG00000164751
Vega: OTTHUMG00000164530
Pharos: P28328(Tbio)
UniProt: P28328
LinkDB
Position
8q21.13
AA seq 305 aa
MASRKENAKSANRVLRISQLDALELNKALEQLVWSQFTQCFHGFKPGLLARFEPEVKACL
WVFLWRFTIYSKNATVGQSVLNIKYKNDFSPNLRYQPPSKNQKIWYAVCTIGGRWLEERC
YDLFRNHHLASFGKVKQCVNFVIGLLKLGGLINFLIFLQRGKFATLTERLLGIHSVFCKP
QNICEVGFEYMNRELLWHGFAEFLIFLLPLINVQKLKAKLSSWCIPLTGAPNSDNTLATS
GKECALCGEWPTMPHTIGCEHIFCYFCAKSSFLFDVYFTCPKCGTEVHSLQPLKSGIEMS
EVNAL
NT seq 918 nt   +upstreamnt  +downstreamnt
atggcttccagaaaagagaatgcgaagagtgcaaacagagtgctaagaataagccagttg
gatgcacttgaactaaacaaggccctggagcagctagtttggtcccagtttactcagtgc
tttcatggatttaaacctgggctgttagctcgctttgagccagaggtgaaagcgtgctta
tgggttttcttgtggagattcaccatctactccaaaaatgccacagtgggacagtcagtt
ttgaatattaagtacaaaaatgatttttcccctaacctgagatatcagccacccagtaaa
aatcaaaaaatctggtatgctgtttgtacaattggtggcaggtggttagaagaacgatgc
tatgatttgtttcgaaaccatcatttagcatcatttgggaaagtcaagcagtgtgtgaat
tttgtgattggacttttgaaattaggtgggctgattaattttttgattttccttcagagg
ggaaagtttgcaactttgacagaacgtctcctaggtattcattctgtattttgcaagcct
caaaacatatgtgaagttggctttgaatacatgaatagggaacttctctggcatggtttt
gctgaatttctgatttttctcttaccacttatcaatgtccagaagttgaaagccaagctg
tcttcatggtgtattcctcttactggtgcacctaatagtgacaatacattagccaccagt
ggcaaagaatgcgctctatgtggagagtggcccaccatgcctcacaccataggatgtgag
catattttctgttatttctgtgctaagagtagtttcttatttgacgtgtactttacttgt
cctaagtgtggcacagaagtacacagtctgcagccactgaaatcaggaatcgagatgtca
gaagtaaatgctctttag

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