Seroatlas · Human Serome Atlas

CYP2R1

Vitamin D 25-hydroxylase

Also known as: CP2R1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q6VVX0
Gene
CYP2R1
Ensembl
ENSG00000186104
Chromosome
11
Canonical length
501 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Quaternary structure
Homodimer

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 microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

501 residues, UniProt reviewed canonical sequence.

>Q6VVX0|CYP2R1
     1  MWKLWRAEEG AAALGGALFL LLFALGVRQL LKQRRPMGFP PGPPGLPFIG NIYSLAASSE
    61  LPHVYMRKQS QVYGEIFSLD LGGISTVVLN GYDVVKECLV HQSEIFADRP CLPLFMKMTK
   121  MGGLLNSRYG RGWVDHRRLA VNSFRYFGYG QKSFESKILE ETKFFNDAIE TYKGRPFDFK
   181  QLITNAVSNI TNLIIFGERF TYEDTDFQHM IELFSENVEL AASASVFLYN AFPWIGILPF
   241  GKHQQLFRNA AVVYDFLSRL IEKASVNRKP QLPQHFVDAY LDEMDQGKND PSSTFSKENL
   301  IFSVGELIIA GTETTTNVLR WAILFMALYP NIQGQVQKEI DLIMGPNGKP SWDDKCKMPY
   361  TEAVLHEVLR FCNIVPLGIF HATSEDAVVR GYSIPKGTTV ITNLYSVHFD EKYWRDPEVF
   421  HPERFLDSSG YFAKKEALVP FSLGRRHCLG EHLARMEMFL FFTALLQRFH LHFPHELVPD
   481  LKPRLGMTLQ PQPYLICAER R

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CYP2R1 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
0
Mean surface accessibility (rSASA)
0.23
Highest tissue expression
6.6 nTPM

Expression across tissuesHPA

Tissue

  • skin: 6.6 nTPM
  • pancreas: 5 nTPM
  • stomach: 4.6 nTPM
  • duodenum: 4.4 nTPM
  • esophagus: 4.3 nTPM
  • salivary gland: 4.3 nTPM

Single-cell type

  • early spermatids: 217 nCPM
  • late spermatids: 146 nCPM
  • late primary spermatocytes: 106 nCPM
  • adipocytes: 97 nCPM
  • early primary spermatocytes: 67 nCPM
  • adrenal medulla cells: 43 nCPM

Immune cell

  • MAIT T-cell: 4.7 nTPM
  • T-reg: 3.6 nTPM
  • naive CD4 T-cell: 3.5 nTPM
  • gdT-cell: 3.1 nTPM
  • naive CD8 T-cell: 3 nTPM
  • naive B-cell: 2.8 nTPM

Brain region

  • cerebellum: 11 nTPM
  • white matter: 5.1 nTPM
  • cerebral cortex: 4.8 nTPM
  • hypothalamus: 4.7 nTPM
  • pons: 4.1 nTPM
  • medulla oblongata: 3.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CYP2R1.

Disease | AllUniProt

Conditions CYP2R1 is implicated in, by any mechanism.

  • Rickets vitamin D-dependent 1B (VDDR1B) MIM:600081

Disease | GeneticClinVar

31 pathogenic / likely-pathogenic of 277 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
1.19
gnomAD pLI
0
gnomAD missense Z
0.48
DepMap mean gene effect
0.09
DepMap dependency class
none

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 CYP2R1 as an antibody target. Whether an autoantibody or antibody against CYP2R1 could matter depends on whether native CYP2R1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CYP2R1 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 CYP2R1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CYP2R1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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