PEX19 peroxisomal biogenesis factor 19 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PEX19provided by HGNC
Official Full Name: peroxisomal biogenesis factor 19provided by HGNC
Primary source: HGNC:HGNC:9713
See related: Ensembl:ENSG00000162735 MIM:600279; AllianceGenome:HGNC:9713
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PXF; HK33; PMP1; PMPI; PXMP1; PBD12A; D1S2223E
Summary: This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
Expression: Ubiquitous expression in fat (RPKM 51.2), thyroid (RPKM 26.4) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q23.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (160276807..160285151, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (159413883..159422227, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (160246597..160254941, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dengue and Zika Virus Capsid Proteins Contain a Common PEX19-Binding Motif.
Title: Dengue and Zika Virus Capsid Proteins Contain a Common PEX19-Binding Motif.
Viperin interacts with PEX19 to mediate peroxisomal augmentation of the innate antiviral response.
Title: Viperin interacts with PEX19 to mediate peroxisomal augmentation of the innate antiviral response.
studies indicate that Pex3 and Pex19 can also facilitate sorting of certain membrane proteins to other cellular organelles, including the endoplasmic reticulum, lipid droplets, and mitochondria
Title: The peroxisome biogenesis factors Pex3 and Pex19: multitasking proteins with disputed functions.
The summarize recent insights into the biogenesis and function of Lipid droplets and peroxisomes with emphasis on the role of PEX19 in these processes.
Title: Intracellular communication between lipid droplets and peroxisomes: the Janus face of PEX19.
Hnf4-induced lipotoxicity and accumulation of free fatty acids is the cause for mitochondrial damage in consequence of peroxisome loss in Pex19 mutants
Title: Unbalanced lipolysis results in lipotoxicity and mitochondrial damage in peroxisome-deficient Pex19 mutants.
Thus, PEX19 and PEX3 peroxisome biogenesis factors provide an alternative posttranslational route for membrane insertion of the reticulon homology domain-containing proteins, implying that endoplasmic reticulum membrane shaping and peroxisome biogenesis may be coordinated.
Title: The peroxisome biogenesis factors posttranslationally target reticulon homology domain-containing proteins to the endoplasmic reticulum membrane.
The results demonstrate an allosteric mechanism for the modulation of PEX19 function by farnesylation.
Title: Allosteric modulation of peroxisomal membrane protein recognition by farnesylation of the peroxisomal import receptor PEX19.
that newly synthesized UBXD8 is post-translationally inserted into discrete ER subdomains by a mechanism requiring cytosolic PEX19 and membrane-integrated PEX3, proteins hitherto exclusively implicated in peroxisome biogenesis
Title: Peroxin-dependent targeting of a lipid-droplet-destined membrane protein to ER subdomains.
suggest a novel regulatory mechanism for peroxisome biogenesis through the interaction between Pex19p and PLA/AT-3
Title: Interaction of Phospholipase A/Acyltransferase-3 with Pex19p: A POSSIBLE INVOLVEMENT IN THE DOWN-REGULATION OF PEROXISOMES.
Thus within the cell, PEX3 is stabilized by PEX19 preventing PEX3 aggregation.
Title: Association between the intrinsically disordered protein PEX19 and PEX3.

Submit: New GeneRIF Correction See all GeneRIFs (33)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Peroxisome biogenesis disorder 12A (Zellweger) MedGen: C3554002 OMIM: 614886 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH67926 (e-PCR)
- UniSTS:49669

WI-19186 (e-PCR)
- UniSTS:13417

RH70904 (e-PCR)
- UniSTS:38573

PMC26746P1 (e-PCR)
- UniSTS:272349

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables peroxisome membrane class-1 targeting sequence binding	IDA Inferred from Direct Assay more info	PubMed
enables peroxisome membrane targeting sequence binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein carrier chaperone	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in chaperone-mediated protein folding	IDA Inferred from Direct Assay more info	PubMed
involved_in establishment of protein localization to peroxisome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of lipid binding	IDA Inferred from Direct Assay more info	PubMed
involved_in peroxisome fission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peroxisome organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peroxisome organization	NAS Non-traceable Author Statement more info	PubMed
involved_in protein import into peroxisome membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein import into peroxisome membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in protein stabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein targeting to peroxisome	IDA Inferred from Direct Assay more info	PubMed
involved_in protein targeting to peroxisome	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in brush border membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in peroxisomal membrane	HDA more info	PubMed
is_active_in peroxisomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in peroxisomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in peroxisome	IDA Inferred from Direct Assay more info	PubMed
located_in peroxisome	ISS Inferred from Sequence or Structural Similarity more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: peroxisomal biogenesis factor 19

Names: 33 kDa housekeeping protein; housekeeping gene, 33kD; peroxin-19; peroxisomal farnesylated protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008637.1 RefSeqGene

Range

5019..13345

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001193644.1 → NP_001180573.1 peroxisomal biogenesis factor 19 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (4, also known as PxFpdelta8 or PEX19pdeltaE8) uses an alternate splice site that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (c) has a distinct and shorter C-terminus, compared to isoform a.

Source sequence(s)

AB062286, AL513282, BC064979, CD557913, DC400252

UniProtKB/TrEMBL

Q5QNY5

Conserved Domains (1) summary

pfam04614
Location:74 → 274

Pex19; Pex19 protein family
NM_002857.4 → NP_002848.1 peroxisomal biogenesis factor 19 isoform a

See identical proteins and their annotated locations for NP_002848.1

Status: REVIEWED

Description

Transcript Variant: This variant (1, also known as PxFall or PEX19all) represents the longest transcript and encodes the longer isoform (a).

Source sequence(s)

AL513282, BC064979, X75535

Consensus CDS

CCDS1201.1

UniProtKB/Swiss-Prot

D3DVE7, E9PPB4, G3V3G9, P40855, Q5QNY4, Q8NI97

UniProtKB/TrEMBL

A0A0S2Z497

Related

ENSP00000357051.5, ENST00000368072.10

Conserved Domains (1) summary

pfam04614
Location:74 → 299

Pex19; Pex19 protein family

RNA

NR_036492.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2, also known as PxFdelta2 or PEX19deltaE2) lacks exon 2, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AB062286, AL513282, BC064979, DC400252

Related

ENST00000472750.5
NR_036493.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3, also known as PxFdelta4) lacks exon 4, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AB062286, AL513282, BC064979, DC405033

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

160276807..160285151 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

159413883..159422227 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001131039.1: Suppressed sequence

Description

NM_001131039.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.