KEGG   Homo sapiens (human): 5191
Entry
5191              CDS       T01001                                 
Symbol
PEX7, PBD9B, PTS2R, RCDP1, RD
Name
(RefSeq) peroxisomal biogenesis factor 7
  KO
K13341  peroxin-7
Organism
hsa  Homo sapiens (human)
Pathway
hsa04146  Peroxisome
Disease
H00075  Refsum disease
H00177  Neonatal adrenoleukodystrophy
H00205  Peroxisome biogenesis disorder
H00207  Rhizomelic chondrodysplasia punctata
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04146 Peroxisome
    5191 (PEX7)
SSDB
Motif
Pfam: WD40 WD40_CDC20-Fz WD40_Prp19 Beta-prop_RIG_2nd Beta-prop_EIPR1 Beta-prop_TEP1_2nd WD40_WDHD1_1st Beta-prop_EML_2 WDR55 Beta-prop_CAF1B_HIR1 EIF3I Beta-prop_TEP1_C WD40_MABP1-WDR62_2nd WD40_RFWD3 Beta-prop_WDR90_POC16_2nd Beta-prop_WDR75_1st Beta-prop_EML Beta-prop_SPT8 Beta-prop_WDR19_1st eIF2A NBCH_WD40 WDR90_beta-prop_4th MIOS_WD40 Beta-prop_DCAF4 Beta-prop_DCAF12 Beta-prop_SCAP Beta-prop_NUP159_NUP214 Beta-prop_WDR11_2nd K319L-like_PKD
Other DBs
NCBI-GeneID: 5191
NCBI-ProteinID: NP_000279
OMIM: 601757
HGNC: 8860
Ensembl: ENSG00000112357
UniProt: O00628 Q6FGN1
Position
6:136822592..136913934
AA seq 323 aa
MSAVCGGAARMLRTPGRHGYAAEFSPYLPGRLACATAQHYGIAGCGTLLILDPDEAGLRL
FRSFDWNDGLFDVTWSENNEHVLITCSGDGSLQLWDTAKAAGPLQVYKEHAQEVYSVDWS
QTRGEQLVVSGSWDQTVKLWDPTVGKSLCTFRGHESIIYSTIWSPHIPGCFASASGDQTL
RIWDVKAAGVRIVIPAHQAEILSCDWCKYNENLLVTGAVDCSLRGWDLRNVRQPVFELLG
HTYAIRRVKFSPFHASVLASCSYDFTVRFWNFSKPDSLLETVEHHTEFTCGLDFSLQSPT
QVADCSWDETIKIYDPACLTIPA
NT seq 972 nt   +upstreamnt  +downstreamnt
atgagtgcggtgtgcggtggagcggcgcggatgctgcggacgccgggacgccacggctac
gccgccgagttctccccgtacctgccgggccgcctggcctgcgccaccgcgcagcactac
ggcatcgcgggctgtggaaccctactaatattggatccagatgaagctgggctaaggctt
tttagaagctttgactggaatgatggtttgtttgatgtgacttggagtgagaacaacgaa
catgtcctcatcacctgtagtggcgatggctcgctgcagctctgggacactgccaaagct
gcagggccactgcaagtctataaagaacacgctcaggaggtgtatagtgttgattggagc
caaaccagaggtgaacagcttgtggtgtctggctcatgggatcaaactgtcaaattgtgg
gatccaactgttggaaagtctctgtgcacctttagaggccatgaaagtattatttatagc
acaatctggtctccccacatccctggttgttttgcttcagcctcaggtgatcagactctg
agaatatgggatgtgaaggcagcaggagtaagaatcgtgattcctgcacatcaggcagaa
atcttgagttgtgactggtgtaaatacaatgagaatttgctggtgaccggggcggttgac
tgtagtttgagaggctgggacttaaggaatgtacgacaaccagtgtttgaacttcttggt
catacctatgctattaggagggtgaaattttcaccatttcatgcttctgtgctggcctct
tgctcgtatgattttactgtaagattctggaacttttcaaagcctgactctcttcttgaa
acagtggagcatcatacagagtttacttgtggtttagacttcagtcttcagagccccact
caggtggctgactgttcttgggatgaaacaataaagatctatgaccctgcttgtcttact
attcctgcttga

  All links  
Disease (4)   
   OMIM (4)   
Gene (11)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (9)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (6)   
DNA sequence (24)   
   RefSeq(nuc) (6)   
   GenBank (9)   
   EMBL (9)   
Protein domain (29)   
   Pfam (29)   
All databases (77)   

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