Property Summary

NCBI Gene PubMed Count 41
Grant Count 5
R01 Count 1
Funding $288,562.83
PubMed Score 4.43
PubTator Score 90.12

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
medulloblastoma 1.700 0.000
medulloblastoma, large-cell 1.300 0.000
primitive neuroectodermal tumor 1.200 0.000
Pick disease -1.300 0.000
progressive supranuclear palsy -1.200 0.030

Synonym

Accession O43933 A4D1G3 A8KA90 B4DIM7 E9PE75 Q96S71 Q96S72 Q96S73 Q99994
Symbols ZWS
ZWS1
HMLR1
PBD1A
PBD1B

Gene

Gene RIF (14)

PMID Text
26476099 Our structural data suggest that the tilting of a central segment of a Pex1-Pex6 pair is responsible for polypeptide movement.
26387595 Mutations in PEX1 gene is associated with Heimler Syndrome.
25016021 results suggested that peroxisome biogenesis requires Pex1p- and Pex6p-regulated dissociation of Pex14p from Pex26p
23247051 the variants in PEX genes of a family
21846392 A 5' UTR polymorphism at position c.-53 and a promoter polymorphism 137 bp upstream of the PEX1 start codon are identified but strongly differing survival By genotype-phenotype analysis.
20546612 Observational study of gene-disease association. (HuGE Navigator)
19105186 Studies provide empirical data to estimate the relative fraction of disease-causing alleles that occur in the coding and splice junction sequences of PEX1 gene.
16257970 Insufficient binding to Pex1p x Pex6p complexes, or mislocalization of patient-derived Pex26p mutants is most likely responsible for the complementation group impaired peroxisome biogenesis.
16141001 Molecular confirmation of the clinical and biochemical diagnosis will allow the prediction of the clinical course of disease in individual PBD cases.
16088892 analysis of PEX1 coding mutations and 5' UTR regulatory polymorphisms
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AA Sequence

MWGSDRLAGAGGGGAAVTVAFTNARDCFLHLPRRLVAQLHLLQNQAIEVVWSHQPAFLSWVEGRHFSDQG      1 - 70
ENVAEINRQVGQKLGLSNGGQVFLKPCSHVVSCQQVEVEPLSADDWEILELHAVSLEQHLLDQIRIVFPK     71 - 140
AIFPVWVDQQTYIFIQIVALIPAASYGRLETDTKLLIQPKTRRAKENTFSKADAEYKKLHSYGRDQKGMM    141 - 210
KELQTKQLQSNTVGITESNENESEIPVDSSSVASLWTMIGSIFSFQSEKKQETSWGLTEINAFKNMQSKV    211 - 280
VPLDNIFRVCKSQPPSIYNASATSVFHKHCAIHVFPWDQEYFDVEPSFTVTYGKLVKLLSPKQQQSKTKQ    281 - 350
NVLSPEKEKQMSEPLDQKKIRSDHNEEDEKACVLQVVWNGLEELNNAIKYTKNVEVLHLGKVWIPDDLRK    351 - 420
RLNIEMHAVVRITPVEVTPKIPRSLKLQPRENLPKDISEEDIKTVFYSWLQQSTTTMLPLVISEEEFIKL    421 - 490
ETKDGLKEFSLSIVHSWEKEKDKNIFLLSPNLLQKTTIQVLLDPMVKEENSEEIDFILPFLKLSSLGGVN    491 - 560
SLGVSSLEHITHSLLGRPLSRQLMSLVAGLRNGALLLTGGKGSGKSTLAKAICKEAFDKLDAHVERVDCK    561 - 630
ALRGKRLENIQKTLEVAFSEAVWMQPSVVLLDDLDLIAGLPAVPEHEHSPDAVQSQRLAHALNDMIKEFI    631 - 700
SMGSLVALIATSQSQQSLHPLLVSAQGVHIFQCVQHIQPPNQEQRCEILCNVIKNKLDCDINKFTDLDLQ    701 - 770
HVAKETGGFVARDFTVLVDRAIHSRLSRQSISTREKLVLTTLDFQKALRGFLPASLRSVNLHKPRDLGWD    771 - 840
KIGGLHEVRQILMDTIQLPAKYPELFANLPIRQRTGILLYGPPGTGKTLLAGVIARESRMNFISVKGPEL    841 - 910
LSKYIGASEQAVRDIFIRAQAAKPCILFFDEFESIAPRRGHDNTGVTDRVVNQLLTQLDGVEGLQGVYVL    911 - 980
AATSRPDLIDPALLRPGRLDKCVYCPPPDQVSRLEILNVLSDSLPLADDVDLQHVASVTDSFTGADLKAL    981 - 1050
LYNAQLEALHGMLLSSGLQDGSSSSDSDLSLSSMVFLNHSSGSDDSAGDGECGLDQSLVSLEMSEILPDE   1051 - 1120
SKFNMYRLYFGSSYESELGNGTSSDLSSQCLSAPSSMTQDLPGVPGKDQLFSQPPVLRTASQEGCQELTQ   1121 - 1190
EQRDQLRADISIIKGRYRSQSGEDESMNQPGPIKTRLAISQSHLMTALGHTRPSISEDDWKNFAELYESF   1191 - 1260
QNPKRRKNQSGTMFRPGQKVTLA                                                  1261 - 1283
//

Text Mined References (47)

PMID Year Title
26476099 2016 Structures of the double-ring AAA ATPase Pex1-Pex6 involved in peroxisome biogenesis.
26387595 2015 Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
25016021 2014 AAA peroxins and their recruiter Pex26p modulate the interactions of peroxins involved in peroxisomal protein import.
23247051 2013 Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21846392 2011 Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients.
21525035 2011 PEX14 is required for microtubule-based peroxisome motility in human cells.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
20546612 2010 The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
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