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Standards Ontologies Notations
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
Annotation information from UniProt.
Gene Ontology (GO)
Displaying all 4 entries
GO Term Evidence Code PMID
cytochrome metabolic process
omega-hydroxylase P450 pathway
organic acid metabolic process
xenobiotic metabolic process
GO Hierarchy
Displaying entries 6 - 7 of 7 in total
GO Term Evidence Code PMID
long-chain fatty acid omega-hydroxylase activity
heme binding
GO Hierarchy
Gene Ontology information from NCBI Gene and UniProt.
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.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas
KEGG BRITE Database
Orthology
K07422
Name
long-chain fatty acid omega-monooxygenase [EC:1.14.14.80]
References
Rhea

RHEA:40199

O2 + hexadecanoate
H2O + H+ + 16-hydroxyhexadecanoate
Enzyme
PMID

RHEA:41728

O2 + (9Z)-octadecenoate
H2O + H+ + 18-hydroxy-(9Z)-octadecenoate
Enzyme
PMID

RHEA:46356

O2 + octadecanoate
H2O + H+ + 18-hydroxyoctadecanoate
Enzyme
PMID

RHEA:56748

an ω-methyl-long-chain fatty acid + O2
an ω-hydroxy-long-chain fatty acid + H2O + H+
Enzyme
PMID
Disease
Disease Ontology
Displaying entries 1 - 10 of 84 in total
DO ID Disease Name Source
DOID:0110787 hereditary spastic paraplegia 36
DOID:1432 blindness
DOID:0050835 generalized dystonia
DOID:0050841 focal hand dystonia
DOID:0050886 Troyer syndrome
DOID:0060245 Mast syndrome
DOID:0060246 MASA syndrome
DOID:0060491 SPOAN syndrome
DOID:0080067 Charcot-Marie-Tooth disease type 5
DOID:0080502 GM1 gangliosidosis type 1
The Human Phenotype Ontology
Displaying entries 11 - 20 of 21 in total
HPO ID HPO Term
HP:0002395 Lower limb hyperreflexia
HP:0002453 Abnormal globus pallidus morphology
HP:0002500 Abnormal cerebral white matter morphology
HP:0003477 Peripheral axonal neuropathy
HP:0003487 Babinski sign
HP:0003577 Congenital onset
HP:0003593 Infantile onset
HP:0003621 Juvenile onset
HP:0007350 Hyperreflexia in upper limbs
HP:0011463 Childhood onset
Displaying all 2 entries
Disease ID Disease Name
ORPHA:320411
  • hereditary spastic paraplegia 56
OMIM:615030
  • hereditary spastic paraplegia 56
PubChem Disease
MedGen Diseases
OMIM Phenotypes
KEGG Diseases
Gene-Disease-Co-Occurrences-in-Literature (PubChem)
Ortholog
Displaying entries 11 - 20 of 84 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
556280 ZFIN:ZDB-GENE-070730-1 DANRE17292
103032979 ASTMX13878
108262960 ICTPU26347
113591288 ELEEL46460
106602293 SALSA118347
106610337 SALSA118347
115191727 SALTR28594
115202294 SALTR17048
115540167 GADMO42515
101167098 ORYLA00438
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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