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Entry version 176 (31 Jul 2019)
Sequence version 2 (18 Oct 2001)
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Protein

1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial

Gene

CYP24A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Has a role in maintaining calcium homeostasis. Catalyzes the adrenodoxin-dependent 24-hydroxylation of calcidiol (25-hydroxyvitamin D3) and calcitriol (1-alpha,25-dihydroxyvitamin D3). The enzyme can perform up to 6 rounds of hydroxylation of calcitriol leading to calcitroic acid. It also shows 23-hydroxylating activity leading to 1-alpha,25-dihydroxyvitamin D3-26,23-lactone as end product.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

hemeBy similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi462Iron (heme axial ligand)By similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionMonooxygenase, Oxidoreductase
LigandHeme, Iron, Metal-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS00395-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.14.13.159 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-196791 Vitamin D (calciferol) metabolism
R-HSA-211916 Vitamins
R-HSA-5579010 Defective CYP24A1 causes Hypercalcemia, infantile (HCAI)

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
Q07973

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q07973

Chemistry databases

SwissLipids knowledge resource for lipid biology

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SwissLipidsi
SLP:000001269

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial (EC:1.14.15.161 Publication)
Short name:
24-OHase
Short name:
Vitamin D(3) 24-hydroxylase
Alternative name(s):
Cytochrome P450 24A1
Cytochrome P450-CC24
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CYP24A1
Synonyms:CYP24
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 20

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:2602 CYP24A1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
126065 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q07973

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hypercalcemia, infantile, 1 (HCINF1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_066408143Missing in HCINF1; complete loss of function. 1 Publication1
Natural variantiVAR_066409159R → Q in HCINF1; complete loss of function. 1 PublicationCorresponds to variant dbSNP:rs387907322EnsemblClinVar.1
Natural variantiVAR_066410322E → K in HCINF1; complete loss of function. 1 PublicationCorresponds to variant dbSNP:rs387907324EnsemblClinVar.1
Natural variantiVAR_066411396R → W in HCINF1; complete loss of function. 1 PublicationCorresponds to variant dbSNP:rs114368325EnsemblClinVar.1
Natural variantiVAR_048466409L → S in HCINF1; retains small but measurable levels of activity. 1 PublicationCorresponds to variant dbSNP:rs6068812EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
1591

MalaCards human disease database

More...
MalaCardsi
CYP24A1
MIMi143880 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000019186

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
300547 Autosomal recessive infantile hypercalcemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA27097

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL4521

Drug and drug target database

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DrugBanki
DB00146 Calcidiol
DB02300 Calcipotriol
DB00136 Calcitriol
DB01285 Corticotropin
DB05024 CTA018
DB00153 Ergocalciferol
DB00910 Paricalcitol

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
1365

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
CYP24A1

Domain mapping of disease mutations (DMDM)

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DMDMi
19862747

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 35MitochondrionBy similarityAdd BLAST35
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000361536 – 5141,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrialAdd BLAST479

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q07973

MaxQB - The MaxQuant DataBase

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MaxQBi
Q07973

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q07973

PeptideAtlas

More...
PeptideAtlasi
Q07973

PRoteomics IDEntifications database

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PRIDEi
Q07973

ProteomicsDB human proteome resource

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ProteomicsDBi
58564 [Q07973-1]
58565 [Q07973-2]
62973

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q07973

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q07973

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000019186 Expressed in 95 organ(s), highest expression level in adult mammalian kidney

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q07973 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA022261
HPA063771

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107963, 5 interactors

Protein interaction database and analysis system

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IntActi
Q07973, 2 interactors

Molecular INTeraction database

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MINTi
Q07973

STRING: functional protein association networks

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STRINGi
9606.ENSP00000216862

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
Q07973

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q07973

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the cytochrome P450 family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0159 Eukaryota
COG2124 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00950000182905

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000276540

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q07973

KEGG Orthology (KO)

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KOi
K07436

Identification of Orthologs from Complete Genome Data

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OMAi
EILWKGG

Database of Orthologous Groups

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OrthoDBi
1231389at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q07973

TreeFam database of animal gene trees

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TreeFami
TF105094

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.630.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001128 Cyt_P450
IPR017972 Cyt_P450_CS
IPR002401 Cyt_P450_E_grp-I
IPR036396 Cyt_P450_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00067 p450, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00463 EP450I
PR00385 P450

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48264 SSF48264, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00086 CYTOCHROME_P450, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q07973-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSSPISKSRS LAAFLQQLRS PRQPPRLVTS TAYTSPQPRE VPVCPLTAGG
60 70 80 90 100
ETQNAAALPG PTSWPLLGSL LQILWKGGLK KQHDTLVEYH KKYGKIFRMK
110 120 130 140 150
LGSFESVHLG SPCLLEALYR TESAYPQRLE IKPWKAYRDY RKEGYGLLIL
160 170 180 190 200
EGEDWQRVRS AFQKKLMKPG EVMKLDNKIN EVLADFMGRI DELCDERGHV
210 220 230 240 250
EDLYSELNKW SFESICLVLY EKRFGLLQKN AGDEAVNFIM AIKTMMSTFG
260 270 280 290 300
RMMVTPVELH KSLNTKVWQD HTLAWDTIFK SVKACIDNRL EKYSQQPSAD
310 320 330 340 350
FLCDIYHQNR LSKKELYAAV TELQLAAVET TANSLMWILY NLSRNPQVQQ
360 370 380 390 400
KLLKEIQSVL PENQVPRAED LRNMPYLKAC LKESMRLTPS VPFTTRTLDK
410 420 430 440 450
ATVLGEYALP KGTVLMLNTQ VLGSSEDNFE DSSQFRPERW LQEKEKINPF
460 470 480 490 500
AHLPFGVGKR MCIGRRLAEL QLHLALCWIV RKYDIQATDN EPVEMLHSGT
510
LVPSRELPIA FCQR
Length:514
Mass (Da):58,875
Last modified:October 18, 2001 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i8862F63771981195
GO
Isoform 2 (identifier: Q07973-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     413-478: Missing.

Note: No experimental confirmation available.
Show »
Length:448
Mass (Da):51,207
Checksum:i7A4DF62B195B6F9B
GO
Isoform 3 (identifier: Q07973-3) [UniParc]FASTAAdd to basket
Also known as: CYP24-SV

The sequence of this isoform differs from the canonical sequence as follows:
     1-8: MSSPISKS → MYSCFSHR
     9-150: Missing.

Note: Specifically expressed in macrophages. Lacks the transit peptide. May be a dominant negative-acting isoform possibly by sequestering vitamin D metabolites.
Show »
Length:372
Mass (Da):43,051
Checksum:i943689E132C4FE3B
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti68G → A in AAA62379 (PubMed:8506296).Curated1
Sequence conflicti68G → A in AAB03776 (PubMed:8506296).Curated1
Sequence conflicti124 – 125AY → V in AAA62379 (PubMed:8506296).Curated2
Sequence conflicti270D → G in AAA62379 (PubMed:8506296).Curated1
Sequence conflicti365V → R in AAA62379 (PubMed:8506296).Curated1
Sequence conflicti368A → E in AAA62379 (PubMed:8506296).Curated1
Sequence conflicti390S → G in AAA62379 (PubMed:8506296).Curated1
Sequence conflicti511F → S in AAB29308 (PubMed:8266831).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066408143Missing in HCINF1; complete loss of function. 1 Publication1
Natural variantiVAR_048464157R → Q. Corresponds to variant dbSNP:rs35051736EnsemblClinVar.1
Natural variantiVAR_066409159R → Q in HCINF1; complete loss of function. 1 PublicationCorresponds to variant dbSNP:rs387907322EnsemblClinVar.1
Natural variantiVAR_066410322E → K in HCINF1; complete loss of function. 1 PublicationCorresponds to variant dbSNP:rs387907324EnsemblClinVar.1
Natural variantiVAR_048465374M → T. Corresponds to variant dbSNP:rs6022990EnsemblClinVar.1
Natural variantiVAR_066411396R → W in HCINF1; complete loss of function. 1 PublicationCorresponds to variant dbSNP:rs114368325EnsemblClinVar.1
Natural variantiVAR_048466409L → S in HCINF1; retains small but measurable levels of activity. 1 PublicationCorresponds to variant dbSNP:rs6068812EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0533671 – 8MSSPISKS → MYSCFSHR in isoform 3. 1 Publication8
Alternative sequenceiVSP_0533689 – 150Missing in isoform 3. 1 PublicationAdd BLAST142
Alternative sequenceiVSP_043101413 – 478Missing in isoform 2. 1 PublicationAdd BLAST66

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
L13286 mRNA Translation: AAA62379.1
AY858838 mRNA Translation: AAW50795.1
AL138805 Genomic DNA No translation available.
BC109083 mRNA Translation: AAI09084.1
BC109084 mRNA Translation: AAI09085.1
U60669 Genomic DNA Translation: AAB03776.1 Sequence problems.
S67623 mRNA Translation: AAB29308.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS33491.1 [Q07973-1]
CCDS46616.1 [Q07973-2]

Protein sequence database of the Protein Information Resource

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PIRi
A47436
I55488

NCBI Reference Sequences

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RefSeqi
NP_000773.2, NM_000782.4 [Q07973-1]
NP_001122387.1, NM_001128915.1 [Q07973-2]
XP_005260361.1, XM_005260304.4 [Q07973-1]
XP_016883180.1, XM_017027691.1 [Q07973-1]
XP_016883181.1, XM_017027692.1 [Q07973-1]
XP_016883182.1, XM_017027693.1 [Q07973-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000216862; ENSP00000216862; ENSG00000019186 [Q07973-1]
ENST00000395954; ENSP00000379284; ENSG00000019186 [Q07973-3]
ENST00000395955; ENSP00000379285; ENSG00000019186 [Q07973-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
1591

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:1591

UCSC genome browser

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UCSCi
uc002xwu.2 human [Q07973-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L13286 mRNA Translation: AAA62379.1
AY858838 mRNA Translation: AAW50795.1
AL138805 Genomic DNA No translation available.
BC109083 mRNA Translation: AAI09084.1
BC109084 mRNA Translation: AAI09085.1
U60669 Genomic DNA Translation: AAB03776.1 Sequence problems.
S67623 mRNA Translation: AAB29308.1
CCDSiCCDS33491.1 [Q07973-1]
CCDS46616.1 [Q07973-2]
PIRiA47436
I55488
RefSeqiNP_000773.2, NM_000782.4 [Q07973-1]
NP_001122387.1, NM_001128915.1 [Q07973-2]
XP_005260361.1, XM_005260304.4 [Q07973-1]
XP_016883180.1, XM_017027691.1 [Q07973-1]
XP_016883181.1, XM_017027692.1 [Q07973-1]
XP_016883182.1, XM_017027693.1 [Q07973-2]

3D structure databases

SMRiQ07973
ModBaseiSearch...

Protein-protein interaction databases

BioGridi107963, 5 interactors
IntActiQ07973, 2 interactors
MINTiQ07973
STRINGi9606.ENSP00000216862

Chemistry databases

BindingDBiQ07973
ChEMBLiCHEMBL4521
DrugBankiDB00146 Calcidiol
DB02300 Calcipotriol
DB00136 Calcitriol
DB01285 Corticotropin
DB05024 CTA018
DB00153 Ergocalciferol
DB00910 Paricalcitol
GuidetoPHARMACOLOGYi1365
SwissLipidsiSLP:000001269

PTM databases

iPTMnetiQ07973
PhosphoSitePlusiQ07973

Polymorphism and mutation databases

BioMutaiCYP24A1
DMDMi19862747

Proteomic databases

jPOSTiQ07973
MaxQBiQ07973
PaxDbiQ07973
PeptideAtlasiQ07973
PRIDEiQ07973
ProteomicsDBi58564 [Q07973-1]
58565 [Q07973-2]
62973

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000216862; ENSP00000216862; ENSG00000019186 [Q07973-1]
ENST00000395954; ENSP00000379284; ENSG00000019186 [Q07973-3]
ENST00000395955; ENSP00000379285; ENSG00000019186 [Q07973-2]
GeneIDi1591
KEGGihsa:1591
UCSCiuc002xwu.2 human [Q07973-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1591
DisGeNETi1591

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CYP24A1
HGNCiHGNC:2602 CYP24A1
HPAiHPA022261
HPA063771
MalaCardsiCYP24A1
MIMi126065 gene
143880 phenotype
neXtProtiNX_Q07973
OpenTargetsiENSG00000019186
Orphaneti300547 Autosomal recessive infantile hypercalcemia
PharmGKBiPA27097

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0159 Eukaryota
COG2124 LUCA
GeneTreeiENSGT00950000182905
HOGENOMiHOG000276540
InParanoidiQ07973
KOiK07436
OMAiEILWKGG
OrthoDBi1231389at2759
PhylomeDBiQ07973
TreeFamiTF105094

Enzyme and pathway databases

BioCyciMetaCyc:HS00395-MONOMER
BRENDAi1.14.13.159 2681
ReactomeiR-HSA-196791 Vitamin D (calciferol) metabolism
R-HSA-211916 Vitamins
R-HSA-5579010 Defective CYP24A1 causes Hypercalcemia, infantile (HCAI)
SABIO-RKiQ07973
SIGNORiQ07973

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
CYP24A1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
CYP24A1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
1591

Protein Ontology

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PROi
PR:Q07973

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000019186 Expressed in 95 organ(s), highest expression level in adult mammalian kidney
GenevisibleiQ07973 HS

Family and domain databases

Gene3Di1.10.630.10, 1 hit
InterProiView protein in InterPro
IPR001128 Cyt_P450
IPR017972 Cyt_P450_CS
IPR002401 Cyt_P450_E_grp-I
IPR036396 Cyt_P450_sf
PfamiView protein in Pfam
PF00067 p450, 1 hit
PRINTSiPR00463 EP450I
PR00385 P450
SUPFAMiSSF48264 SSF48264, 1 hit
PROSITEiView protein in PROSITE
PS00086 CYTOCHROME_P450, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCP24A_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q07973
Secondary accession number(s): Q15807, Q32ML3, Q5I2W7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 18, 2001
Last modified: July 31, 2019
This is version 176 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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