PEX1 (peroxisomal biogenesis factor 1)

2014-11-01  

Identity

HGNC
PEX1
LOCATION
7q21.2
LOCUSID
5189
ALIAS
HMLR1,PBD1A,PBD1B,ZWS,ZWS1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5189
MIM: 602136
HGNC: 8850
Ensembl: ENSG00000127980

Variants:

dbSNP: 5189
ClinVar: 5189
TCGA: ENSG00000127980
COSMIC: PEX1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000127980ENST00000248633O43933
ENSG00000127980ENST00000422866H7BZH3
ENSG00000127980ENST00000428214A0A0C4DG33
ENSG00000127980ENST00000438045O43933

Expression (GTEx)

0
5
10
15
20
25
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

PathwaySourceExternal ID
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
191051862009Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.20
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.19
263875952015Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.18
250160212014AAA peroxins and their recruiter Pex26p modulate the interactions of peroxins involved in peroxisomal protein import.16
161410012005Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations.14
120322652002PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease.13
273028432016Spectrum of PEX1 and PEX6 variants in Heimler syndrome.11
124023312002Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.10
298847722018Peroxisomal monoubiquitinated PEX5 interacts with the AAA ATPases PEX1 and PEX6 and is unfolded during its dislocation into the cytosol.8
160863292005PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.7

Citation

Dessen P

PEX1 (peroxisomal biogenesis factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71831/pex1