Seroatlas · Human Serome Atlas

CYP2U1

Cytochrome P450 2U1

Also known as: CP2U1_HUMAN, SPG49, SPG56

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q7Z449
Gene: CYP2U1
Ensembl: ENSG00000155016
Chromosome: 4
Canonical length: 544 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins
Subcellular location: Nucleoplasm,Golgi apparatus,Vesicles

OverviewNCBI Gene

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a hydroxylase that metabolizes arachidonic acid, docosahexaenoic acid, and other long chain fatty acids. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

544 residues, UniProt reviewed canonical sequence.

>Q7Z449|CYP2U1
     1  MSSPGPSQPP AEDPPWPARL LRAPLGLLRL DPSGGALLLC GLVALLGWSW LRRRRARGIP
    61  PGPTPWPLVG NFGHVLLPPF LRRRSWLSSR TRAAGIDPSV IGPQVLLAHL ARVYGSIFSF
   121  FIGHYLVVVL SDFHSVREAL VQQAEVFSDR PRVPLISIVT KEKGVVFAHY GPVWRQQRKF
   181  SHSTLRHFGL GKLSLEPKII EEFKYVKAEM QKHGEDPFCP FSIISNAVSN IICSLCFGQR
   241  FDYTNSEFKK MLGFMSRGLE ICLNSQVLLV NICPWLYYLP FGPFKELRQI EKDITSFLKK
   301  IIKDHQESLD RENPQDFIDM YLLHMEEERK NNSNSSFDEE YLFYIIGDLF IAGTDTTTNS
   361  LLWCLLYMSL NPDVQEKVHE EIERVIGANR APSLTDKAQM PYTEATIMEV QRLTVVVPLA
   421  IPHMTSENTV LQGYTIPKGT LILPNLWSVH RDPAIWEKPE DFYPNRFLDD QGQLIKKETF
   481  IPFGIGKRVC MGEQLAKMEL FLMFVSLMQS FAFALPEDSK KPLLTGRFGL TLAPHPFNIT
   541  ISRR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CYP2U1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 5
Mean surface accessibility (rSASA): 0.27
Highest tissue expression: 79 nTPM

Expression across tissuesHPA

Tissue

thymus: 79 nTPM
choroid plexus: 12 nTPM
parathyroid gland: 10 nTPM
smooth muscle: 9.6 nTPM
prostate: 9.3 nTPM
blood vessel: 8.5 nTPM

Single-cell type

cardiomyocytes: 113 nCPM
adrenal medulla cells: 75 nCPM
schwann cells: 45 nCPM
melanocytes: 43 nCPM
thymocytes: 36 nCPM
oligodendrocyte progenitor cells: 36 nCPM

Immune cell

non-classical monocyte: 2.9 nTPM
naive B-cell: 1.1 nTPM
plasmacytoid DC: 1.1 nTPM
myeloid DC: 0.9 nTPM
memory B-cell: 0.8 nTPM
naive CD4 T-cell: 0.7 nTPM

Brain region

choroid plexus: 20 nTPM
white matter: 18 nTPM
medulla oblongata: 18 nTPM
hypothalamus: 17 nTPM
spinal cord: 16 nTPM
basal ganglia: 16 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CYP2U1.

Disease | AllUniProt

Conditions CYP2U1 is implicated in, by any mechanism.

Spastic paraplegia 56, autosomal recessive, with or without pseudoxanthoma elasticum (SPG56) MIM:615030

Disease | GeneticClinVar

49 pathogenic / likely-pathogenic of 355 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hereditary spastic paraplegia 56
Spastic paraplegia
Hereditary spastic paraplegia
CYP2U1-related disorder
Neurodegeneration

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.75
gnomAD pLI: 0
gnomAD missense Z: 0.99
DepMap mean gene effect: -0.04
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CYP2U1 as an antibody target. Whether an autoantibody or antibody against CYP2U1 could matter depends on whether native CYP2U1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CYP2U1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CYP2U1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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