KEGG   Homo sapiens (human): 57716
Entry
57716             CDS       T01001                                 
Symbol
PRX, CMT4F
Name
(RefSeq) periaxin
  KO
K27395  periaxin
Organism
hsa  Homo sapiens (human)
Disease
H00264  Charcot-Marie-Tooth disease
H02359  Dejerine-Sottas disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    57716 (PRX)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 PDZ domain-containing proteins
  Other PDZ domain-containing proteins
   57716 (PRX)
SSDB
Motif
Pfam: Cornifin PDZ
Other DBs
NCBI-GeneID: 57716
NCBI-ProteinID: NP_870998
OMIM: 605725
HGNC: 13797
Ensembl: ENSG00000105227
UniProt: Q9BXM0
Structure
Position
19:complement(40393764..40414789)
AA seq 1461 aa
MEARSRSAEELRRAELVEIIVETEAQTGVSGINVAGGGKEGIFVRELREDSPAARSLSLQ
EGDQLLSARVFFENFKYEDALRLLQCAEPYKVSFCLKRTVPTGDLALRPGTVSGYEIKGP
RAKVAKLNIQSLSPVKKKKMVPGALGVPADLAPVDVEFSFPKFSRLRRGLKAEAVKGPVP
AAPARRRLQLPRLRVREVAEEAQAARLAAAAPPPRKAKVEAEVAAGARFTAPQVELVGPR
LPGAEVGVPQVSAPKAAPSAEAAGGFALHLPTLGLGAPAPPAVEAPAVGIQVPQVELPAL
PSLPTLPTLPCLETREGAVSVVVPTLDVAAPTVGVDLALPGAEVEARGEAPEVALKMPRL
SFPRFGARAKEVAEAKVAKVSPEARVKGPRLRMPTFGLSLLEPRPAAPEVVESKLKLPTI
KMPSLGIGVSGPEVKVPKGPEVKLPKAPEVKLPKVPEAALPEVRLPEVELPKVSEMKLPK
VPEMAVPEVRLPEVELPKVSEMKLPKVPEMAVPEVRLPEVQLLKVSEMKLPKVPEMAVPE
VRLPEVQLPKVSEMKLPEVSEVAVPEVRLPEVQLPKVPEMKVPEMKLPKVPEMKLPEMKL
PEVQLPKVPEMAVPDVHLPEVQLPKVPEMKLPEMKLPEVKLPKVPEMAVPDVHLPEVQLP
KVPEMKLPKMPEMAVPEVRLPEVQLPKVSEMKLPKVPEMAVPDVHLPEVQLPKVCEMKVP
DMKLPEIKLPKVPEMAVPDVHLPEVQLPKVSEIRLPEMQVPKVPDVHLPKAPEVKLPRAP
EVQLKATKAEQAEGMEFGFKMPKMTMPKLGRAESPSRGKPGEAGAEVSGKLVTLPCLQPE
VDGEAHVGVPSLTLPSVELDLPGALGLQGQVPAAKMGKGERVEGPEVAAGVREVGFRVPS
VEIVTPQLPAVEIEEGRLEMIETKVKPSSKFSLPKFGLSGPKVAKAEAEGAGRATKLKVS
KFAISLPKARVGAEAEAKGAGEAGLLPALDLSIPQLSLDAHLPSGKVEVAGADLKFKGPR
FALPKFGVRGRDTEAAELVPGVAELEGKGWGWDGRVKMPKLKMPSFGLARGKEAEVQGDR
ASPGEKAESTAVQLKIPEVELVTLGAQEEGRAEGAVAVSGMQLSGLKVSTAGQVVTEGHD
AGLRMPPLGISLPQVELTGFGEAGTPGQQAQSTVPSAEGTAGYRVQVPQVTLSLPGAQVA
GGELLVGEGVFKMPTVTVPQLELDVGLSREAQAGEAATGEGGLRLKLPTLGARARVGGEG
AEEQPPGAERTFCLSLPDVELSPSGGNHAEYQVAEGEGEAGHKLKVRLPRFGLVRAKEGA
EEGEKAKSPKLRLPRVGFSQSEMVTGEGSPSPEEEEEEEEEGSGEGASGRRGRVRVRLPR
VGLAAPSKASRGQEGDAAPKSPVREKSPKFRFPRVSLSPKARSGSGDQEEGGLRVRLPSV
GFSETGAPGPARMEGAQAAAV
NT seq 4386 nt   +upstreamnt  +downstreamnt
atggaggccaggagccggagtgccgaggagctgaggcgggcggagttggtggaaattatc
gtggagacggaggcgcagaccggggtcagcggcatcaacgtagcgggcggcggcaaagag
ggaatcttcgttcgggagctgcgcgaggactcacccgccgccaggagcctcagcctgcag
gaaggggaccagctgctgagtgcccgagtgttcttcgagaacttcaagtacgaggacgca
ctacgcctgctgcaatgcgccgagccttacaaagtctccttctgcctgaagcgcactgtg
cccaccggggacctggctctgcggcccgggaccgtgtctggctacgagatcaagggcccg
cgggccaaggtggccaagctgaacatccagagtctgtcccctgtgaagaagaagaagatg
gtgcctggggctctgggggtccccgctgacctggcccctgttgacgtcgagttctccttt
cccaagttctcccgcctgcgtcggggcctcaaagccgaggctgtcaagggtcctgtcccg
gctgcccctgcccgccggcgcctccagctgcctcggctgcgtgtacgagaagtggccgaa
gaggctcaggcagcccggctggccgccgccgctcctccccccaggaaagccaaggtggag
gctgaggtggctgcaggagctcgtttcacagcccctcaggtggagctggttgggccgcgg
ctgccaggggcggaggtgggtgtcccccaggtctcagcccccaaggctgccccctcagca
gaggcagctggtggctttgccctccacctgccaacccttgggctcggagccccggctccg
cctgctgtggaggccccagccgtgggaatccaggtcccccaggtggagctgcctgccttg
ccctcactgcccactctgcccacacttccctgcctagagacccgggaaggggctgtgtcg
gtagtggtgcccaccctggatgtggcagcaccgactgtgggggtggacctggccttgccg
ggtgcagaggtggaggcccggggagaggcacctgaggtggccctgaagatgccccgcctt
agttttccccgatttggggctcgagcaaaggaagttgctgaggccaaggtagccaaggtc
agccctgaggccagggtgaaaggtcccagacttcgaatgcccacctttgggctttccctc
ttggagccccggcccgctgctcctgaagttgtagagagcaagctgaagctgcccaccatc
aagatgccctcccttggcatcggagtgtcagggcccgaggtcaaggtgcccaagggacct
gaagtgaagctccccaaggctcctgaggtcaagcttccaaaagtgcccgaggcagccctt
ccagaggttcgactcccagaggtggagctccccaaggtgtcagagatgaaactcccaaag
gtgccagagatggctgtgccggaggtgcggcttccagaggtagagctgcccaaagtgtca
gagatgaaactcccaaaggtgccagagatggctgtgccggaggtgcggcttccagaggta
cagctgctgaaagtgtcggagatgaaactcccaaaggtgccagagatggctgtgccggag
gtgcggcttccagaggtacagctgccgaaagtgtcagagatgaaactcccagaggtgtca
gaggtggctgtgccagaggtgcggcttccagaggtgcagctgccgaaagtgccagagatg
aaagtccctgagatgaagcttccaaaggtgcctgagatgaaacttcctgagatgaaactc
cctgaagtgcaactcccgaaggtgcccgagatggccgtgcccgatgtgcacctcccagaa
gtgcagcttccaaaagtcccagagatgaagctccctgagatgaaactccctgaggtgaaa
ctcccgaaggtgcccgagatggctgtgcccgatgtgcacctcccggaagtgcagctcccg
aaagtcccagagatgaaactccctaaaatgcctgagatggctgtgccagaggttcgactc
cccgaggtgcagctgccaaaagtctcagagatgaaactccccaaggtgcctgaaatggcc
gtgcccgatgtgcacctcccagaggtgcagctgcccaaagtctgtgaaatgaaagtccct
gacatgaagctcccagagataaaactccccaaggtgcctgagatggctgtgcccgatgtg
cacctccccgaggtgcagctgccgaaagtgtcagagattcggctgccggaaatgcaagtg
ccgaaggttcccgacgtgcatcttccgaaggcaccagaggtgaagctgcccagggctccg
gaggtgcagctaaaggccaccaaggcagaacaggcagaagggatggaatttggcttcaag
atgcccaagatgaccatgcccaagctagggagggcagagtccccatcacgtggcaagcca
ggcgaggcgggtgctgaggtctcagggaagctggtaacacttccctgtctgcagccagag
gtggatggtgaggctcatgtgggtgtcccctctctcactctgccttcagtggagctagac
ctgccaggagcacttggcctgcaggggcaggtcccagccgctaaaatgggcaagggagag
cgggtggagggccctgaggtggcagcaggggtcagggaagtgggcttccgagtgccctct
gttgaaattgtcaccccacagctgcccgccgtggaaattgaggaagggcggctggagatg
atagagacaaaagtcaagccctcttccaagttctccttacctaagtttggactctcgggg
ccaaaggtggctaaggcagaggctgagggggctgggcgagctaccaagctgaaggtatcc
aaatttgccatctcactccccaaggctcgggtgggggctgaggctgaggccaaaggggct
ggggaggcaggcctgctgcctgccctcgatctgtccatcccacagctcagcctggatgcc
cacctgccctcaggcaaggtagaggtggcaggggccgacctcaagttcaaggggcccagg
tttgctctccccaagtttggggtcagaggccgggacactgaggcagcagaactagtgcca
ggggtggctgagttggagggcaagggctggggctgggatgggagggtgaagatgcccaag
ctgaagatgccttcctttgggctggctcgagggaaggaagcagaagttcaaggtgatcgt
gccagcccgggggaaaaggctgagtccaccgctgtgcagcttaagatccccgaggtggag
ctggtcacgctgggcgcccaggaggaagggagggcagagggggctgtggccgtcagtgga
atgcagctgtcaggcctgaaggtgtccacagccgggcaggtggtcactgagggccatgac
gcggggctgaggatgcctccgctgggcatctccctgccacaggtggagctgaccggcttt
ggggaggcaggtaccccagggcagcaggctcagagtacagtcccttcagcagagggcaca
gcaggctacagggttcaggtgccccaggtgaccctgtctctgcctggagcccaggttgca
ggtggtgagctgctggtgggtgagggtgtctttaagatgcccaccgtgacagtgccccag
cttgagctggacgtggggctaagccgagaggcacaggcgggcgaggcggccacaggcgag
ggtgggctgaggctgaagttgcccacactgggggccagagctagggtggggggcgagggt
gctgaggagcagcccccaggggccgagcgtaccttctgcctctcactgcccgacgtggag
ctctcgccatccgggggcaaccatgccgagtaccaggtggcagagggggagggagaggcc
ggacacaagctcaaggtacggctgccccggtttggcctggtgcgggccaaggagggggcc
gaggagggtgagaaggccaagagccccaaactcaggctgccccgagtgggcttcagccaa
agtgagatggtcactggggaagggtcccccagccccgaggaggaggaggaggaggaggaa
gagggcagtggggaaggggcctcgggtcgccggggccgggtccgggtccgcttgccacgt
gtaggcctggcggccccttctaaagcctctcgggggcaggagggcgatgcagcccccaag
tcccccgtcagagagaagtcacccaagttccgcttccccagggtgtccctaagccccaag
gcccggagtgggagtggggaccaggaagagggtggattgcgggtgcggctgcccagcgtg
gggttttcagagacaggggctccaggcccggccaggatggagggggctcaggctgcggct
gtctga

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