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PEX1 peroxisomal biogenesis factor 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000466 Homo sapiens peroxisomal biogenesis factor 1 (PEX1), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_001282677 Homo sapiens peroxisomal biogenesis factor 1 (PEX1), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_001282678 Homo sapiens peroxisomal biogenesis factor 1 (PEX1), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_005250429 PREDICTED: Homo sapiens peroxisomal biogenesis factor 1 (PEX1), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_005250433 PREDICTED: Homo sapiens peroxisomal biogenesis factor 1 (PEX1), transcript variant X5, mRNA. GenEZ ORF Cloning On-demand $849.00 20

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Gene Symbol PEX1
Entrez Gene ID 5189
Full Name peroxisomal biogenesis factor 1
Synonyms PBD1A, PBD1B, ZWS, ZWS1
General protein information
Preferred Names
peroxisome biogenesis factor 1
Names
peroxisome biogenesis factor 1
peroxin-1
Zellweger syndrome
peroxisome biogenesis disorder protein 1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

7

7q21.2

Summary This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013].
Disorder

MIM: 602136

Zellweger syndrome-1, 214100 (3); Adrenoleukodystrophy, neonatal,

mRNA Protein Product Sequence Price Select
NM_000466, 94421467 NP_000457, 4505725 peroxisome biogenesis factor 1 isoform 1 ORF Sequence $1500.00
NM_001282677, 544186101 NP_001269606, 544186102 peroxisome biogenesis factor 1 isoform 2 ORF Sequence $1500.00
NM_001282678, 544186103 NP_001269607, 544186104 peroxisome biogenesis factor 1 isoform 3 ORF Sequence $1500.00
XM_005250429, 578814346 XP_005250486, 530386077 peroxisome biogenesis factor 1 isoform X1 ORF Sequence $1500.00
XM_005250433, 578814348 XP_005250490, 530386086 peroxisome biogenesis factor 1 isoform X5 ORF Sequence $700.00
KEGG
hsa04146Peroxisome
Homo sapiens (human)PEX1NP_000457.1
Pan troglodytes (chimpanzee)PEX1XP_519198.2
Macaca mulatta (Rhesus monkey)PEX1XP_001101055.2
Canis lupus familiaris (dog)PEX1XP_532459.1
Bos taurus (cattle)PEX1NP_001179000.1
Mus musculus (house mouse)Pex1NP_082053.1
Rattus norvegicus (Norway rat)Pex1NP_001102690.1
Gallus gallus (chicken)PEX1XP_004939352.1
Danio rerio (zebrafish)pex1XP_003200668.1
Xenopus (Silurana) tropicalis (western clawed frog)pex1XP_004915478.1
Process
IDNameEvidence
GO:0006200ATP catabolic processIEA
GO:0006200ATP catabolic processIMP
GO:0006625protein targeting to peroxisomeIMP
GO:0007031peroxisome organizationIMP
GO:0016558protein import into peroxisome matrixIMP
GO:0060152microtubule-based peroxisome localizationIMP
Component
IDNameEvidence
GO:0005737cytoplasmIDA
GO:0005777peroxisomeIDA
GO:0005778peroxisomal membraneIDA
GO:0005829cytosolIDA
GO:0043231intracellular membrane-bounded organelleIDA
Function
IDNameEvidence
GO:0005515protein bindingIPI
GO:0005524ATP bindingIMP
GO:0008022protein C-terminus bindingIPI
GO:0032403protein complex bindingIDA
GO:0042623ATPase activity, coupledIMP
GeneCards PEX1
UniProt B4DER6, O43933
Vega OTTHUMG00000023926
MIM 602136
Ensembl ENSG00000127980
HGNC 8850
HPRD 03682

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the PEX1 gene?

The PEX1 gene provides instructions for making a protein called peroxisomal biogenesis factor 1 (Pex1p), which is part of a group of proteins called peroxins. Peroxins are essential for the formation and normal functioning of cell structures called peroxisomes. Peroxisomes are sac-like compartments that contain enzymes needed to break down many different substances, including fatty acids and certain toxic compounds. They are also important for the production of fats (lipids) used in digestion and in the nervous system. Peroxins assist in the formation (biogenesis) of peroxisomes by producing the membrane that separates the peroxisome from the rest of the cell and by importing enzymes into the peroxisome. Pex1p enables other peroxins to bring enzymes into the peroxisome.

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