Human_Genes_Functions
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Prototype stage

Gene detail

Read-only gene view with summary, GO, UniProt, NCBI, and representative sequence links.

GRCh38.p14 + GENCODE Release 50local-onlyPDO SQLite primaryread-only query modesqlite3 fallback available

Gene detail

PEX19

PEX19

protein_coding 1 160,266,229 - 160,286,348 PDO SQLite primary read-only query mode
Overview Summary GO UniProt Representative Transcripts FASTA ClinVar disease associations

Overview

Gene ID
ENSG00000162735
Gene type
protein_coding
Chromosome
1
Coordinates
160,266,229 - 160,286,348
Strand
-
Status
not available
NCBI summary UniProt GO Transcript FASTA Protein FASTA

Aliases

5824 CCDS1201 D1S2223E ENST00000368072.10 HK33 NM_002857 NM_002857.4 P40855 PMP1 PMPI PXF PXMP1 housekeeping gene, 33kD peroxisomal farnesylated protein

Summary

GENCODE gene_type=protein_coding; HGNC symbol=PEX19; HGNC name=peroxisomal biogenesis factor 19; alias_count=15; RefSeq=NM_002857; UniProt=P40855; MANE Select=ENST00000368072.10,NM_002857.4

Source: GENCODE + HGNC complete set

5824 • protein-coding

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]

NCBI Gene

UniProt

P40855 • reviewed

Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cytoplasm by interacting with their hydrophobic membrane-spanning domains, and targets them to the peroxisome membrane by binding to the integral membrane protein PEX3. Excludes CDKN2A from the nucleus and prevents its interaction with MDM2, which results in active degradation of TP53

Peroxisomal biogenesis factor 19 · Cytoplasm; Peroxisome membrane

P40855 • reviewed

Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cytoplasm by interacting with their hydrophobic membrane-spanning domains, and targets them to the peroxisome membrane by binding to the integral membrane protein PEX3. Excludes CDKN2A from the nucleus and prevents its interaction with MDM2, which results in active degradation of TP53

Peroxisomal biogenesis factor 19 · Cytoplasm; Peroxisome membrane

GO annotations

Biological process
  • GO:0072663 establishment of protein localization to peroxisome (IMP)
  • GO:1900131 negative regulation of lipid binding (IDA)
  • GO:0016559 peroxisome fission (IMP)
  • GO:0016557 peroxisome membrane biogenesis (IDA)
  • GO:0007031 peroxisome organization (IMP)
  • GO:0007031 peroxisome organization (IMP)
  • GO:0007031 peroxisome organization (IMP)
  • GO:0007031 peroxisome organization (IMP)
  • GO:0007031 peroxisome organization (NAS)
  • GO:0006457 protein folding (IDA)

+ 9 more

Cellular component
  • GO:0031526 brush border membrane (ISS)
  • GO:0005737 cytoplasm (ISS)
  • GO:0005737 cytoplasm (IEA)
  • GO:0005737 cytoplasm (IDA)
  • GO:0005737 cytoplasm (EXP)
  • GO:0005737 cytoplasm (EXP)
  • GO:0005737 cytoplasm (IMP)
  • GO:0005737 cytoplasm (IDA)
  • GO:0005737 cytoplasm (EXP)
  • GO:0005829 cytosol (IDA)

+ 26 more

Molecular function
  • GO:0051117 ATPase binding (IPI)
  • GO:0036105 peroxisome membrane class-1 targeting sequence binding (IDA)
  • GO:0033328 peroxisome membrane targeting sequence binding (IBA)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)

+ 115 more

Representative

Representative transcript
ENST00000368072
Representative protein
ENSP00000357051.5
Representative type
CCDS
Candidate count
2

GENCODE Release 50 annotation GTF · transcript.tag=CCDS; transcript_support_level=1

Transcript FASTA Protein FASTA

Transcripts

Transcript ID Name Type Status Protein Location
ENST00001107847 PEX19-230 protein_coding not available ENSP00000777652.1 1:160,266,229 - 160,285,153 -
ENST00001131337 PEX19-233 protein_coding not available ENSP00000801142.1 1:160,266,229 - 160,285,153 -
ENST00000992543 PEX19-216 nonsense_mediated_decay not available ENSP00000662360.1 1:160,266,246 - 160,285,136 -
ENST00001045473 PEX19-224 nonsense_mediated_decay not available ENSP00000715290.1 1:160,266,246 - 160,285,133 -
ENST00000992544 PEX19-217 nonsense_mediated_decay not available ENSP00000662361.1 1:160,266,273 - 160,285,135 -
ENST00001107848 PEX19-231 protein_coding not available ENSP00000777653.1 1:160,267,815 - 160,285,153 -
ENST00001065479 PEX19-225 nonsense_mediated_decay not available ENSP00000735285.1 1:160,276,548 - 160,285,140 -
ENST00000368072 PEX19-201 protein_coding not available ENSP00000357051.5 1:160,276,807 - 160,285,133 -
ENST00001144697 PEX19-234 protein_coding not available ENSP00000809350.1 1:160,276,807 - 160,285,153 -
ENST00000472750 PEX19-205 nonsense_mediated_decay not available ENSP00000434633.1 1:160,276,867 - 160,285,154 -
ENST00000992546 PEX19-219 nonsense_mediated_decay not available ENSP00000662363.1 1:160,276,867 - 160,285,136 -
ENST00000920352 PEX19-214 protein_coding not available ENSP00000590411.1 1:160,276,874 - 160,285,153 -
ENST00001065480 PEX19-226 protein_coding not available ENSP00000735286.1 1:160,276,874 - 160,285,153 -
ENST00001065481 PEX19-227 nonsense_mediated_decay not available ENSP00000735287.1 1:160,276,874 - 160,285,136 -
ENST00000992545 PEX19-218 protein_coding not available ENSP00000662362.1 1:160,276,877 - 160,285,153 -
ENST00000992548 PEX19-221 nonsense_mediated_decay not available ENSP00000662365.1 1:160,276,878 - 160,285,137 -
ENST00000992549 PEX19-222 nonsense_mediated_decay not available ENSP00000662366.1 1:160,276,878 - 160,285,136 -
ENST00000992550 PEX19-223 nonsense_mediated_decay not available ENSP00000662367.1 1:160,276,878 - 160,285,133 -
ENST00000992547 PEX19-220 nonsense_mediated_decay not available ENSP00000662364.1 1:160,276,879 - 160,285,141 -
ENST00000467711 PEX19-204 protein_coding_CDS_not_defined not available not available 1:160,277,302 - 160,280,082 -

FASTA

FASTA output is generated by backend query; the raw FASTA path is not exposed.

Open transcript export Open protein export

ClinVar disease associations

ClinVar disease associations: 0

ClinVar gene-disease tables are missing. Build the candidate database first.