KEGG   Homo sapiens (human): 5189Help
Entry
5189              CDS       T01001                                 

Gene name
PEX1, HMLR1, PBD1A, PBD1B, ZWS, ZWS1
Definition
(RefSeq) peroxisomal biogenesis factor 1
  KO
K13338  peroxin-1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04146  Peroxisome
Disease
H00177  Adrenoleukodystrophy, neonatal (NALD)
H00204  Infantile Refsum disease (IRD)
H00205  Peroxisome biogenesis disorder
H01342  Zellweger syndrome (ZS)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Cellular Processes
  Transport and catabolism
   04146 Peroxisome
    5189 (PEX1)
Membrane trafficking [BR:hsa04131]
 Autophagy
  Pexophagy
   Other pexophagy associated proteins
    5189 (PEX1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: AAA PEX-2N PEX-1N AAA_16 IstB_IS21 AAA_14 ABC_tran AAA_2 RuvB_N AAA_19 AAA_22 AAA_33 AAA_5 RNA_helicase TIP49 AAA_18 T2SSE Sigma54_activat AAA_29 TsaE Mg_chelatase Sigma54_activ_2 DUF815 NACHT AAA_30 AAA_24 Zeta_toxin Parvo_NS1 NTPase_1 APS_kinase RsgA_GTPase Roc AAA_23
Motif
Other DBs
NCBI-GeneID: 5189
NCBI-ProteinID: NP_000457
OMIM: 602136
HGNC: 8850
Ensembl: ENSG00000127980
Vega: OTTHUMG00000023926
Pharos: O43933(Tbio)
UniProt: O43933
Position
7q21.2
AA seq 1283 aa AA seqDB search
MWGSDRLAGAGGGGAAVTVAFTNARDCFLHLPRRLVAQLHLLQNQAIEVVWSHQPAFLSW
VEGRHFSDQGENVAEINRQVGQKLGLSNGGQVFLKPCSHVVSCQQVEVEPLSADDWEILE
LHAVSLEQHLLDQIRIVFPKAIFPVWVDQQTYIFIQIVALIPAASYGRLETDTKLLIQPK
TRRAKENTFSKADAEYKKLHSYGRDQKGMMKELQTKQLQSNTVGITESNENESEIPVDSS
SVASLWTMIGSIFSFQSEKKQETSWGLTEINAFKNMQSKVVPLDNIFRVCKSQPPSIYNA
SATSVFHKHCAIHVFPWDQEYFDVEPSFTVTYGKLVKLLSPKQQQSKTKQNVLSPEKEKQ
MSEPLDQKKIRSDHNEEDEKACVLQVVWNGLEELNNAIKYTKNVEVLHLGKVWIPDDLRK
RLNIEMHAVVRITPVEVTPKIPRSLKLQPRENLPKDISEEDIKTVFYSWLQQSTTTMLPL
VISEEEFIKLETKDGLKEFSLSIVHSWEKEKDKNIFLLSPNLLQKTTIQVLLDPMVKEEN
SEEIDFILPFLKLSSLGGVNSLGVSSLEHITHSLLGRPLSRQLMSLVAGLRNGALLLTGG
KGSGKSTLAKAICKEAFDKLDAHVERVDCKALRGKRLENIQKTLEVAFSEAVWMQPSVVL
LDDLDLIAGLPAVPEHEHSPDAVQSQRLAHALNDMIKEFISMGSLVALIATSQSQQSLHP
LLVSAQGVHIFQCVQHIQPPNQEQRCEILCNVIKNKLDCDINKFTDLDLQHVAKETGGFV
ARDFTVLVDRAIHSRLSRQSISTREKLVLTTLDFQKALRGFLPASLRSVNLHKPRDLGWD
KIGGLHEVRQILMDTIQLPAKYPELFANLPIRQRTGILLYGPPGTGKTLLAGVIARESRM
NFISVKGPELLSKYIGASEQAVRDIFIRAQAAKPCILFFDEFESIAPRRGHDNTGVTDRV
VNQLLTQLDGVEGLQGVYVLAATSRPDLIDPALLRPGRLDKCVYCPPPDQVSRLEILNVL
SDSLPLADDVDLQHVASVTDSFTGADLKALLYNAQLEALHGMLLSSGLQDGSSSSDSDLS
LSSMVFLNHSSGSDDSAGDGECGLDQSLVSLEMSEILPDESKFNMYRLYFGSSYESELGN
GTSSDLSSQCLSAPSSMTQDLPGVPGKDQLFSQPPVLRTASQEGCQELTQEQRDQLRADI
SIIKGRYRSQSGEDESMNQPGPIKTRLAISQSHLMTALGHTRPSISEDDWKNFAELYESF
QNPKRRKNQSGTMFRPGQKVTLA
NT seq 3852 nt NT seq  +upstreamnt  +downstreamnt
atgtggggcagcgatcgcctggcgggtgctgggggaggcggggcggcagtgactgtggcc
ttcaccaacgctcgcgactgcttcctccacctgccgcggcgtctcgtggcccagctgcat
ctgctgcagaatcaagctatagaagtggtctggagtcaccagcctgcattcttgagctgg
gtggaaggcaggcattttagtgatcaaggtgaaaatgtggctgaaattaacagacaagtt
ggtcaaaaacttggactctcaaatgggggacaggtatttctcaagccatgttcccatgtg
gtatcttgtcaacaagttgaggtggaacccctctcagcagatgattgggagatactggag
ctgcatgctgtttcccttgaacaacatcttctagatcaaattcgaatagtttttccaaaa
gccatttttcctgtttgggttgatcaacaaacgtacatatttatccaaattgttgcacta
ataccagctgcctcttatggaaggctggaaactgacaccaaactccttattcagccaaag
acacgccgagccaaagagaatacattttcaaaagctgatgctgaatataaaaaacttcat
agttatggaagagaccagaaaggaatgatgaaagaacttcaaaccaagcaacttcagtca
aatactgtgggaatcactgaatctaatgaaaacgagtcagagattccagttgactcatca
tcagtagcaagtttatggactatgataggaagcattttttcctttcaatctgagaagaaa
caagagacatcttggggtttaactgaaatcaatgcattcaaaaatatgcagtcaaaggtt
gttcctctagacaatattttcagagtatgcaaatctcaacctcctagtatatataacgcg
tcagcaacctctgtttttcataaacactgtgccattcatgtatttccatgggaccaggaa
tattttgatgtagagcccagctttactgtgacatatggaaagctagttaagctactttct
ccaaagcaacagcaaagtaaaacaaaacaaaatgtgttatcacctgaaaaagagaagcag
atgtcagagccactagatcaaaaaaaaattaggtcagatcataatgaagaagatgagaag
gcctgtgtgctacaagtagtctggaatggacttgaagaattgaacaatgccatcaaatat
accaaaaatgtagaagttctccatcttgggaaagtctggattccagatgacctgaggaag
agactaaatatagaaatgcatgccgtagtcaggataactccagtggaagttacccctaaa
attccaagatctctaaagttacaacctagagagaatttacctaaagacataagtgaagaa
gacataaaaactgtattttattcatggctacagcagtctactaccaccatgcttcctttg
gtaatatcagaggaagaatttattaagctggaaactaaagatggactgaaggaattttct
ctgagtatagttcattcttgggaaaaagaaaaagataaaaatatttttctgttgagtccc
aatttgctgcagaagactacaatacaagtccttctagatcctatggtaaaagaagaaaac
agtgaggaaattgactttattcttccttttttaaagctgagctctttgggaggagtgaat
tccttaggcgtatcctccttggagcacatcactcacagcctcctgggacgccctttgtct
cggcagctgatgtctcttgttgcaggacttaggaatggagctcttttactcacaggagga
aagggaagtggaaaatcaactttagccaaagcaatctgtaaagaagcatttgacaaactg
gatgcccatgtggagagagttgactgtaaagctttacgaggaaaaaggcttgaaaacata
caaaaaaccctagaggtggctttctcagaggcagtgtggatgcagccatctgttgtcctg
ctggatgaccttgacctcattgctggactgcctgctgtcccggaacatgagcacagtcct
gatgcggtgcagagccagcggcttgctcatgctttgaatgatatgataaaagagtttatc
tccatgggaagtttggttgcactgattgccacaagtcagtctcagcaatctctacatcct
ttacttgtttctgctcaaggagttcacatatttcagtgcgtccaacacattcagcctcct
aatcaggaacaaagatgtgaaattctgtgtaatgtaataaaaaataaattggactgtgat
ataaacaagttcaccgatcttgacctgcagcatgtagctaaagaaactggcgggtttgtg
gctagagattttacagtacttgtggatcgagccatacattctcgactctctcgtcagagt
atatccaccagagaaaaattagttttaacaacattggacttccaaaaggctctccgcgga
tttcttcctgcgtctttgcgaagtgtcaacctgcataaacctagagacctgggttgggac
aagattggtgggttacatgaagttaggcagatactcatggatactatccagttacctgcc
aagtatccagaattatttgcaaacttgcccatacgacaaagaacaggaatactgttgtat
ggtccgcctggaacaggaaaaaccttactagctggggtaattgcacgagagagtagaatg
aattttataagtgtcaaggggccagagttactcagcaaatacattggagcaagtgaacaa
gctgttcgggatatttttattagagcacaggctgcaaagccctgcattcttttctttgat
gaatttgaatccattgctcctcggcggggtcatgataatacaggagttacagaccgagta
gttaaccagttgctgactcagttggatggagtagaaggcttacagggtgtttatgtattg
gctgctactagtcgccctgacttgattgaccctgccctgcttaggcctggtcgactagat
aaatgtgtatactgtcctcctcctgatcaggtgtcacgtcttgaaattttaaatgtcctc
agtgactctctacctctggcagatgatgttgaccttcagcatgtagcatcagtaactgac
tcctttactggagctgatctgaaagctttactttacaatgcccaattggaggccttacat
ggaatgctgctctcgagtggactccaggatggaagttccagctctgatagtgacctaagt
ctgtcttcaatggtctttcttaaccatagcagtggctctgacgattcagctggagatgga
gaatgtggcttagatcagtcccttgtttctttagagatgtccgagatccttccagatgaa
tcaaaattcaatatgtaccggctctactttggaagctcttatgaatcagaacttggaaat
ggaacctcttctgatttgagctcacaatgtctctctgcaccaagctccatgactcaggat
ttgcctggagttcctgggaaagaccagttgttttcacagcctccagtgttaaggacagct
tcacaagagggttgccaagaacttacacaagaacaaagagatcaactgagggcagatatc
agtattatcaaaggcagataccggagccaaagtggagaggacgaatccatgaaccaacca
ggaccaatcaaaaccagactggctattagtcagtcacatttaatgactgcacttggtcac
acaagaccatccattagtgaagatgactggaagaattttgctgagctatatgaaagcttt
caaaatccaaagaggagaaaaaatcaaagtggaacaatgtttcgacctggacagaaagta
actttagcataa

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