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UniProtKB - Q07973 (CP24A_HUMAN)

Entry version 188 (07 Apr 2021)
Sequence version 2 (18 Oct 2001)
Previous versions | rss
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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

A cytochrome P450 monooxygenase with a key role in vitamin D catabolism and calcium homeostasis. Via C24- and C23-oxidation pathways, catalyzes the inactivation of both the vitamin D precursor calcidiol (25-hydroxyvitamin D3) and the active hormone calcitriol (1-alpha,25-dihydroxyvitamin D3) (PubMed:24893882, PubMed:15574355, PubMed:8679605, PubMed:11012668, PubMed:16617161, PubMed:29461981). With initial hydroxylation at C-24 (via C24-oxidation pathway), performs a sequential 6-step oxidation of calcitriol leading to the formation of the biliary metabolite calcitroic acid (PubMed:24893882, PubMed:15574355). With initial hydroxylation at C-23 (via C23-oxidation pathway), catalyzes sequential oxidation of calcidiol leading to the formation of 25(OH)D3-26,23-lactone as end product (PubMed:11012668, PubMed:8679605). Preferentially hydroxylates at C-25 other vitamin D active metabolites, such as CYP11A1-derived secosteroids 20S-hydroxycholecalciferol and 20S,23-dihydroxycholecalciferol (PubMed:25727742). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via FDXR/adrenodoxin reductase and FDX1/adrenodoxin (PubMed:8679605).7 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=0.16 µM for calcidiol1 Publication
  2. KM=0.072 µM for calcitriol1 Publication
  3. KM=0.35 µM for calcitriol1 Publication
  1. Vmax=0.088 mol/min/mol enzyme toward calcidiol1 Publication
  2. Vmax=0.066 mol/min/mol enzyme toward calcitriol1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

More...BioCyci		MetaCyc:HS00395-MONOMER

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		1.14.13.159, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q07973

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

More...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%5Fand%5Ftaxonomy%5Fsection">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, mitochondrial1 Publication (EC:1.14.15.165 Publications)
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%5Fand%5Ftaxonomy%5Fsection">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:CYP24A1Imported
Synonyms:CYP24
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

More...HGNCi		HGNC:2602, CYP24A1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		126065, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q07973

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000019186.9

<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

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 variants 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 variant

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

More...PharmGKBi		PA27097

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q07973, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL4521

Drug and drug target database

More...DrugBanki		DB00146, Calcifediol
DB02300, Calcipotriol
DB00136, Calcitriol
DB01285, Corticotropin
DB05024, CTA018
DB00153, Ergocalciferol
DB00910, Paricalcitol

DrugCentral

More...DrugCentrali		Q07973

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		1365

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CYP24A1

Domain mapping of disease mutations (DMDM)

More...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 or proteolytic cleavage.<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

More...jPOSTi		Q07973

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q07973

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q07973

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

More...PaxDbi		Q07973

PeptideAtlas

More...PeptideAtlasi		Q07973

PRoteomics IDEntifications database

More...PRIDEi		Q07973

ProteomicsDB: a multi-organism proteome resource

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

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q07973

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

More...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

More...Bgeei		ENSG00000019186, Expressed in urinary bladder and 119 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q07973, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000019186, Tissue enhanced (kidney, lymphoid tissue, urinary bladder)

<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)

More...BioGRIDi		107963, 7 interactors

Protein interaction database and analysis system

More...IntActi		Q07973, 6 interactors

Molecular INTeraction database

More...MINTi		Q07973

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000216862

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q07973

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q07973, protein

<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

More...SMRi		Q07973

Database of comparative protein structure models

More...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

More...eggNOGi		KOG0159, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00950000182905

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_001570_28_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q07973

Identification of Orthologs from Complete Genome Data

More...OMAi		HIGAPCL

Database of Orthologous Groups

More...OrthoDBi		1273535at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q07973

TreeFam database of animal gene trees

More...TreeFami		TF105094

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.630.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...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

More...PRINTSi		PR00463, EP450I
PR00385, P450

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48264, SSF48264, 1 hit

PROSITE; a protein domain and family database

More...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%5Flength">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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.

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.Curated
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

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

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

Protein sequence database of the Protein Information Resource

More...PIRi		A47436
I55488

NCBI Reference Sequences

More...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

More...GeneIDi		1591

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1591

UCSC genome browser

More...UCSCi		uc002xwu.2, human [Q07973-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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, 7 interactors
IntActiQ07973, 6 interactors
MINTiQ07973
STRINGi9606.ENSP00000216862

Chemistry databases

BindingDBiQ07973
ChEMBLiCHEMBL4521
DrugBankiDB00146, Calcifediol
DB02300, Calcipotriol
DB00136, Calcitriol
DB01285, Corticotropin
DB05024, CTA018
DB00153, Ergocalciferol
DB00910, Paricalcitol
DrugCentraliQ07973
GuidetoPHARMACOLOGYi1365
SwissLipidsiSLP:000001269

PTM databases

iPTMnetiQ07973
PhosphoSitePlusiQ07973

Genetic variation databases

BioMutaiCYP24A1
DMDMi19862747

Proteomic databases

jPOSTiQ07973
MassIVEiQ07973
MaxQBiQ07973
PaxDbiQ07973
PeptideAtlasiQ07973
PRIDEiQ07973
ProteomicsDBi58564 [Q07973-1]
58565 [Q07973-2]
62973

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		13944, 314 antibodies

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
HPAiENSG00000019186, Tissue enhanced (kidney, lymphoid tissue, urinary bladder)
MalaCardsiCYP24A1
MIMi126065, gene
143880, phenotype
neXtProtiNX_Q07973
OpenTargetsiENSG00000019186
Orphaneti300547, Autosomal recessive infantile hypercalcemia
PharmGKBiPA27097
VEuPathDBiHostDB:ENSG00000019186.9

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0159, Eukaryota
GeneTreeiENSGT00950000182905
HOGENOMiCLU_001570_28_1_1
InParanoidiQ07973
OMAiHIGAPCL
OrthoDBi1273535at2759
PhylomeDBiQ07973
TreeFamiTF105094

Enzyme and pathway databases

BioCyciMetaCyc:HS00395-MONOMER
BRENDAi1.14.13.159, 2681
PathwayCommonsiQ07973
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

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		1591, 10 hits in 988 CRISPR screens

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

More...ChiTaRSi		CYP24A1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		CYP24A1

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

More...GenomeRNAii		1591
PharosiQ07973, Tchem

Protein Ontology

More...PROi		PR:Q07973
RNActiQ07973, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000019186, Expressed in urinary bladder and 119 other tissues
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

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...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%5Fand%5Fisoforms">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: April 7, 2021
This is version 188 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

Reference proteome

Documents

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