cytochrome P450 family 2 subfamily U member 1

Summary
Gene Symbol
  • CYP2U1
Aliases
  • SPG49
  • spastic paraplegia 49
Organism
Homo sapiens (human)
External Links
NCBI Gene
113612
HGNC
20582
KEGG Gene ID
hsa:113612
PubChem
113612
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Direct protein sequencing
  • Disease variant
  • Heme
  • Hereditary spastic paraplegia
  • Lipid metabolism
  • Microsome
  • Mitochondrion inner membrane
  • Monooxygenase
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q7Z449
  • Long-chain fatty acid omega-monooxygenase
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Human Protein Atlas
ENSG00000155016

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K07422
Name
long-chain fatty acid omega-monooxygenase [EC:1.14.14.80]
References
Disease
Disease Ontology
Displaying entries 21 - 30 of 84 in total
DO ID Disease Name Source
DOID:0110773 hereditary spastic paraplegia 2
DOID:0110774 hereditary spastic paraplegia 23
DOID:0110775 hereditary spastic paraplegia 24
DOID:0110776 hereditary spastic paraplegia 25
DOID:0110777 hereditary spastic paraplegia 26
DOID:0110778 hereditary spastic paraplegia 27
DOID:0110779 hereditary spastic paraplegia 28
DOID:0110780 hereditary spastic paraplegia 29
DOID:0110781 hereditary spastic paraplegia 30
DOID:0110782 hereditary spastic paraplegia 31
The Human Phenotype Ontology
Displaying entries 1 - 10 of 21 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0001249 Intellectual disability
HP:0001258 Spastic paraplegia
HP:0001263 Global developmental delay
HP:0001270 Motor delay
HP:0001332 Dystonia
HP:0002064 Spastic gait
HP:0002079 Hypoplasia of the corpus callosum
HP:0002135 Basal ganglia calcification
HP:0002317 Unsteady gait
Displaying all 2 entries
Disease ID Disease Name
ORPHA:320411
  • hereditary spastic paraplegia 56
OMIM:615030
  • hereditary spastic paraplegia 56

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024