GenTIGS

Peroxisomal biogenesis factor 19 (PEX19) 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_001193644.1	NP_001180573.1	NC_000001.11	(160276806..160285150, complement)	Reference GRCh38.p14 Primary Assembly	P40855
2	REVIEWED	NM_002857.4	NP_002848.1	NC_000001.11	(160276806..160285150, complement)	Reference GRCh38.p14 Primary Assembly	P40855
3	REVIEWED	NR_036492.2	-	NC_000001.11	(160276806..160285150, complement)	Reference GRCh38.p14 Primary Assembly	P40855
4	REVIEWED	NR_036493.2	-	NC_000001.11	(160276806..160285150, complement)	Reference GRCh38.p14 Primary Assembly	P40855

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 1114 reference articles

Variant Information Peroxisomal biogenesis factor 19 (PEX19) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Peroxisomal biogenesis factor 19 (PEX19)

ClinVar variants:Revealing mutagenic patterns

GO Term of Peroxisomal biogenesis factor 19 (PEX19)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IPI	enables	protein binding	Function	10704444 10777694 11402059 11590176 12096124 12488033 14709540 16189514 16280322 16344115 16763195 18174172 18782765 19114594 19197237 19715730 20531392 21102411 21525035 25416956 25502805 27107012 28514442 29997244 31467278 31515488 32296183 32814053
2	Homo sapiens	IDA	located_in	nucleoplasm	Component	-
3	Homo sapiens	IDA	located_in	cytoplasm	Component	14709540
4	Homo sapiens	ISS	located_in	cytoplasm	Component	-
5	Homo sapiens	IDA	located_in	peroxisome	Component	19114594
6	Homo sapiens	ISS	located_in	peroxisome	Component	-
7	Homo sapiens	HDA	located_in	peroxisomal membrane	Component	21525035
8	Homo sapiens	IBA	is_active_in	peroxisomal membrane	Component	21873635
9	Homo sapiens	IDA	located_in	peroxisomal membrane	Component	9339377
10	Homo sapiens	IDA	located_in	cytosol	Component	19114594
11	Homo sapiens	TAS	located_in	cytosol	Component	-
12	Homo sapiens	IDA	involved_in	protein targeting to peroxisome	Process	16344115 16763195
13	Homo sapiens	IMP	involved_in	protein targeting to peroxisome	Process	10704444 19114594
14	Homo sapiens	IMP	involved_in	peroxisome organization	Process	14709540
15	Homo sapiens	NAS	involved_in	peroxisome organization	Process	9339377
16	Homo sapiens	IMP	involved_in	peroxisome fission	Process	18782765
17	Homo sapiens	ISS	located_in	brush border membrane	Component	-
18	Homo sapiens	IDA	part_of	protein-containing complex	Component	18174172
19	Homo sapiens	IBA	enables	peroxisome membrane targeting sequence binding	Function	21873635
20	Homo sapiens	IDA	enables	peroxisome membrane class-1 targeting sequence binding	Function	14709540
21	Homo sapiens	IBA	involved_in	protein import into peroxisome membrane	Process	21873635
22	Homo sapiens	IDA	involved_in	protein import into peroxisome membrane	Process	11402059 14709540
23	Homo sapiens	IDA	involved_in	protein stabilization	Process	14709540 16344115
24	Homo sapiens	IPI	enables	ATPase binding	Function	11453642
25	Homo sapiens	IDA	involved_in	chaperone-mediated protein folding	Process	14709540
26	Homo sapiens	IMP	involved_in	establishment of protein localization to peroxisome	Process	18782765
27	Homo sapiens	IDA	enables	protein carrier chaperone	Function	11402059 14709540
28	Homo sapiens	IDA	involved_in	negative regulation of lipid binding	Process	19715730