GenTIGS

Peroxisomal biogenesis factor 1 (PEX1) Associated conditions: 1. Peroxisome biogenesis disorder 2. Zellweger spectrum disorders

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_000466.3	NP_000457.1	NC_000007.14	(92487024..92528519, complement)	Reference GRCh38.p14 Primary Assembly	O43933
2	REVIEWED	NM_001282677.2	NP_001269606.1	NC_000007.14	(92487024..92528519, complement)	Reference GRCh38.p14 Primary Assembly	O43933
3	REVIEWED	NM_001282678.2	NP_001269607.1	NC_000007.14	(92487024..92528519, complement)	Reference GRCh38.p14 Primary Assembly	O43933

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 184 reference articles

Variant Information Peroxisomal biogenesis factor 1 (PEX1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Peroxisomal biogenesis factor 1 (PEX1)

ClinVar variants:Revealing mutagenic patterns

GO Term of Peroxisomal biogenesis factor 1 (PEX1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IPI	enables	protein binding	Function	9588209 16257970 16854980 32814053
2	Homo sapiens	IMP	enables	ATP binding	Function	16854980
3	Homo sapiens	IDA	located_in	cytoplasm	Component	9588209
4	Homo sapiens	IDA	located_in	peroxisome	Component	16854980
5	Homo sapiens	HDA	located_in	peroxisomal membrane	Component	21525035
6	Homo sapiens	IBA	is_active_in	peroxisomal membrane	Component	21873635
7	Homo sapiens	IDA	is_active_in	peroxisomal membrane	Component	21362118
8	Homo sapiens	IDA	located_in	peroxisomal membrane	Component	11439091
9	Homo sapiens	IBA	is_active_in	cytosol	Component	21873635
10	Homo sapiens	IDA	located_in	cytosol	Component	16854980
11	Homo sapiens	TAS	located_in	cytosol	Component	-
12	Homo sapiens	IMP	involved_in	protein targeting to peroxisome	Process	11439091 16854980
13	Homo sapiens	IMP	involved_in	peroxisome organization	Process	11439091
14	Homo sapiens	IBA	involved_in	protein import into peroxisome matrix	Process	21873635
15	Homo sapiens	IMP	involved_in	protein import into peroxisome matrix	Process	9398847
16	Homo sapiens	IDA	involved_in	protein import into peroxisome matrix, receptor recycling	Process	16314507 16854980 19208625 21362118 29884772
17	Homo sapiens	IBA	enables	ATP hydrolysis activity	Function	21873635
18	Homo sapiens	IMP	enables	ATP hydrolysis activity	Function	16854980
19	Homo sapiens	IDA	involved_in	protein unfolding	Process	16854980 29884772
20	Homo sapiens	IDA	enables	protein-containing complex binding	Function	16854980
21	Homo sapiens	IMP	acts_upstream_of_or_within	microtubule-based peroxisome localization	Process	16449325
22	Homo sapiens	IMP	involved_in	microtubule-based peroxisome localization	Process	16449325
23	Homo sapiens	HDA	located_in	extracellular exosome	Component	18570454
24	Homo sapiens	IDA	enables	ubiquitin-dependent protein binding	Function	19208625 29884772
25	Homo sapiens	IDA	enables	protein transporter activity	Function	16854980 21362118 29884772