PEX13 (peroxisomal biogenesis factor 13)

2017-10-01 Affiliation

Identity

HGNC

PEX13

LOCATION

2p15

LOCUSID

5194

ALIAS

NALD,PBD11A,PBD11B,ZWS

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 5194
MIM: 601789
HGNC: 8855
Ensembl: ENSG00000162928

Variants:

dbSNP: 5194
ClinVar: 5194
TCGA: ENSG00000162928
COSMIC: PEX13

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000162928	ENST00000295030	Q92968
ENSG00000162928	ENST00000401576	B5MBY9
ENSG00000162928	ENST00000414712	G5E9N6
ENSG00000162928	ENST00000444100	D3YTD3

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Peroxisome	KEGG	ko04146
Peroxisome	KEGG	hsa04146

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
38632234	2024	Modulation of peroxisomal import by the PEX13 SH3 domain and a proximal FxxxF binding motif.	0
38632234	2024	Modulation of peroxisomal import by the PEX13 SH3 domain and a proximal FxxxF binding motif.	0
35854306	2022	Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.	2
35854306	2022	Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.	2
32565019	2020	Hepatocyte-specific deletion of peroxisomal protein PEX13 results in disrupted iron homeostasis.	2
32565019	2020	Hepatocyte-specific deletion of peroxisomal protein PEX13 results in disrupted iron homeostasis.	2
27827795	2017	Peroxisomal protein PEX13 functions in selective autophagy.	26
28765278	2017	The peroxisomal matrix protein translocon is a large cavity-forming protein assembly into which PEX5 protein enters to release its cargo.	13
27827795	2017	Peroxisomal protein PEX13 functions in selective autophagy.	26
28765278	2017	The peroxisomal matrix protein translocon is a large cavity-forming protein assembly into which PEX5 protein enters to release its cargo.	13
23716570	2013	Functional analysis of PEX13 mutation in a Zellweger syndrome spectrum patient reveals novel homooligomerization of PEX13 and its role in human peroxisome biogenesis.	14
23716570	2013	Functional analysis of PEX13 mutation in a Zellweger syndrome spectrum patient reveals novel homooligomerization of PEX13 and its role in human peroxisome biogenesis.	14
19449432	2009	Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.	7
19449432	2009	Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.	7
16006427	2005	Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder.	4

Citation

Dessen P

PEX13 (peroxisomal biogenesis factor 13)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57179