Gene/Proteome Database (LMPD)
LMPD ID
LMP004331
Gene ID
Species
Homo sapiens (Human)
Gene Name
cytochrome P450, family 24, subfamily A, polypeptide 1
Gene Symbol
Synonyms
CP24; CYP24; HCAI; P450-CC24
Alternate Names
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial; 24-OHase; cytochrome P450 24A1; cytochrome P450-CC24; vitamin D 24-hydroxylase; exo-mitochondrial protein; vitamin D(3) 24-hydroxylase; 1,25-@dihydroxyvitamin D3 24-hydroxylase; cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)
Chromosome
20
Map Location
20q13
EC Number
1.14.13.126
Summary
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 mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Orthologs
Proteins
| 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 1 precursor | |
|---|---|
| Refseq ID | NP_000773 |
| Protein GI | 55770850 |
| UniProt ID | Q07973 |
| mRNA ID | NM_000782 |
| Length | 514 |
| RefSeq Status | REVIEWED |
| MSSPISKSRSLAAFLQQLRSPRQPPRLVTSTAYTSPQPREVPVCPLTAGGETQNAAALPGPTSWPLLGSLLQILWKGGLKKQHDTLVEYHKKYGKIFRMKLGSFESVHLGSPCLLEALYRTESAYPQRLEIKPWKAYRDYRKEGYGLLILEGEDWQRVRSAFQKKLMKPGEVMKLDNKINEVLADFMGRIDELCDERGHVEDLYSELNKWSFESICLVLYEKRFGLLQKNAGDEAVNFIMAIKTMMSTFGRMMVTPVELHKSLNTKVWQDHTLAWDTIFKSVKACIDNRLEKYSQQPSADFLCDIYHQNRLSKKELYAAVTELQLAAVETTANSLMWILYNLSRNPQVQQKLLKEIQSVLPENQVPRAEDLRNMPYLKACLKESMRLTPSVPFTTRTLDKATVLGEYALPKGTVLMLNTQVLGSSEDNFEDSSQFRPERWLQEKEKINPFAHLPFGVGKRMCIGRRLAELQLHLALCWIVRKYDIQATDNEPVEMLHSGTLVPSRELPIAFCQR | |
| 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 2 precursor | |
|---|---|
| Refseq ID | NP_001122387 |
| Protein GI | 193083117 |
| UniProt ID | Q07973 |
| mRNA ID | NM_001128915 |
| Length | 448 |
| RefSeq Status | REVIEWED |
| MSSPISKSRSLAAFLQQLRSPRQPPRLVTSTAYTSPQPREVPVCPLTAGGETQNAAALPGPTSWPLLGSLLQILWKGGLKKQHDTLVEYHKKYGKIFRMKLGSFESVHLGSPCLLEALYRTESAYPQRLEIKPWKAYRDYRKEGYGLLILEGEDWQRVRSAFQKKLMKPGEVMKLDNKINEVLADFMGRIDELCDERGHVEDLYSELNKWSFESICLVLYEKRFGLLQKNAGDEAVNFIMAIKTMMSTFGRMMVTPVELHKSLNTKVWQDHTLAWDTIFKSVKACIDNRLEKYSQQPSADFLCDIYHQNRLSKKELYAAVTELQLAAVETTANSLMWILYNLSRNPQVQQKLLKEIQSVLPENQVPRAEDLRNMPYLKACLKESMRLTPSVPFTTRTLDKATVLGEYALPKGIVRKYDIQATDNEPVEMLHSGTLVPSRELPIAFCQR | |
| transit_peptide: 1..35 calculated_mol_wt: 3863 peptide sequence: MSSPISKSRSLAAFLQQLRSPRQPPRLVTSTAYTS mat_peptide: 36..514 product: 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 1 calculated_mol_wt: 55030 peptide sequence: PQPREVPVCPLTAGGETQNAAALPGPTSWPLLGSLLQILWKGGLKKQHDTLVEYHKKYGKIFRMKLGSFESVHLGSPCLLEALYRTESAYPQRLEIKPWKAYRDYRKEGYGLLILEGEDWQRVRSAFQKKLMKPGEVMKLDNKINEVLADFMGRIDELCDERGHVEDLYSELNKWSFESICLVLYEKRFGLLQKNAGDEAVNFIMAIKTMMSTFGRMMVTPVELHKSLNTKVWQDHTLAWDTIFKSVKACIDNRLEKYSQQPSADFLCDIYHQNRLSKKELYAAVTELQLAAVETTANSLMWILYNLSRNPQVQQKLLKEIQSVLPENQVPRAEDLRNMPYLKACLKESMRLTPSVPFTTRTLDKATVLGEYALPKGTVLMLNTQVLGSSEDNFEDSSQFRPERWLQEKEKINPFAHLPFGVGKRMCIGRRLAELQLHLALCWIVRKYDIQATDNEPVEMLHSGTLVPSRELPIAFCQR transit_peptide: 1..35 calculated_mol_wt: 3863 peptide sequence: MSSPISKSRSLAAFLQQLRSPRQPPRLVTSTAYTS mat_peptide: 36..448 product: 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 2 calculated_mol_wt: 47362 peptide sequence: PQPREVPVCPLTAGGETQNAAALPGPTSWPLLGSLLQILWKGGLKKQHDTLVEYHKKYGKIFRMKLGSFESVHLGSPCLLEALYRTESAYPQRLEIKPWKAYRDYRKEGYGLLILEGEDWQRVRSAFQKKLMKPGEVMKLDNKINEVLADFMGRIDELCDERGHVEDLYSELNKWSFESICLVLYEKRFGLLQKNAGDEAVNFIMAIKTMMSTFGRMMVTPVELHKSLNTKVWQDHTLAWDTIFKSVKACIDNRLEKYSQQPSADFLCDIYHQNRLSKKELYAAVTELQLAAVETTANSLMWILYNLSRNPQVQQKLLKEIQSVLPENQVPRAEDLRNMPYLKACLKESMRLTPSVPFTTRTLDKATVLGEYALPKGIVRKYDIQATDNEPVEMLHSGTLVPSRELPIAFCQR | |
Gene Information
Entrez Gene ID
Gene Name
cytochrome P450, family 24, subfamily A, polypeptide 1
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005743 | TAS:Reactome | C | mitochondrial inner membrane |
| GO:0030342 | IDA:UniProtKB | F | 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity |
| GO:0008403 | IEA:Ensembl | F | 25-hydroxycholecalciferol-24-hydroxylase activity |
| GO:0020037 | TAS:UniProtKB | F | heme binding |
| GO:0005506 | IEA:InterPro | F | iron ion binding |
| GO:0016491 | NAS:UniProtKB | F | oxidoreductase activity |
| GO:0001649 | IEP:BHF-UCL | P | osteoblast differentiation |
| GO:0055114 | IDA:UniProtKB | P | oxidation-reduction process |
| GO:0033280 | IDA:BHF-UCL | P | response to vitamin D |
| GO:0044281 | TAS:Reactome | P | small molecule metabolic process |
| GO:0008202 | TAS:Reactome | P | steroid metabolic process |
| GO:0042369 | NAS:BHF-UCL | P | vitamin D catabolic process |
| GO:0042359 | TAS:Reactome | P | vitamin D metabolic process |
| GO:0070561 | NAS:BHF-UCL | P | vitamin D receptor signaling pathway |
| GO:0006766 | TAS:Reactome | P | vitamin metabolic process |
| GO:0006805 | TAS:Reactome | P | xenobiotic metabolic process |
KEGG Pathway Links
| KEGG Pathway ID | Description |
|---|---|
| hsa05206 | MicroRNAs in cancer |
Domain Information
UniProt Annotations
Entry Information
Gene Name
cytochrome P450, family 24, subfamily A, polypeptide 1
Protein Entry
CP24A_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Alternative Products | Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q07973-1; Sequence=Displayed; Name=2; IsoId=Q07973-2; Sequence=VSP_043101; Note=No experimental confirmation available.; Name=3; Synonyms=CYP24-SV; IsoId=Q07973-3; Sequence=VSP_053367, VSP_053368; Note=Specifically expressed in macrophages. Lacks the transit peptide. May be a dominant negative-acting isoform possibly by sequestering vitamin D metabolites.; |
| Catalytic Activity | Calcidiol + NADPH + O(2) = secalciferol + NADP(+) + H(2)O. |
| Catalytic Activity | Calcitriol + NADPH + O(2) = calcitetrol + NADP(+) + H(2)O. |
| Cofactor | Name=heme; Xref=ChEBI |
| Disease | Hypercalcemia infantile (HCAI) [MIM |
| Function | Has a role in maintaining calcium homeostasis. Catalyzes the NADPH-dependent 24-hydroxylation of calcidiol (25- hydroxyvitamin D(3)) and calcitriol (1-alpha,25-dihydroxyvitamin D(3)). 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 D(3)-26,23-lactone as end product. |
| Similarity | Belongs to the cytochrome P450 family. |
| Subcellular Location | Mitochondrion. |
Identical and Related Proteins
Unique RefSeq proteins for LMP004331 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 55770850 | RefSeq | NP_000773 | 514 | 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 1 precursor |
| 193083117 | RefSeq | NP_001122387 | 448 | 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 2 precursor |
Identical Sequences to LMP004331 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:193083117 | GenBank | AAI09084.1 | 448 | CYP24A1 protein [Homo sapiens] |
| GI:193083117 | GenBank | AAI09085.1 | 448 | CYP24A1 protein [Homo sapiens] |
| GI:55770850 | GenBank | ABY17652.1 | 514 | Sequence 2 from patent US 7288407 |
| GI:55770850 | GenBank | ACK03085.1 | 514 | Sequence 1 from patent US 7427670 |
| GI:55770850 | GenBank | ADC20191.1 | 514 | Sequence 412 from patent US 7638288 |
| GI:55770850 | GenBank | AGD01152.1 | 514 | Sequence 412 from patent US 8338124 |
| GI:55770850 | GenBank | AHE00967.1 | 514 | Sequence 55346 from patent US 8586006 |
| GI:193083117 | GenBank | AIC48612.1 | 448 | CYP24A1, partial [synthetic construct] |
| GI:55770850 | RefSeq | XP_005260361.1 | 514 | PREDICTED: 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X1 [Homo sapiens] |
Related Sequences to LMP004331 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:55770850 | GenBank | AAA62379.1 | 513 | 1,25-dihydroxyvitamin D3 24-hydroxylase [Homo sapiens] |
| GI:55770850 | GenBank | ABW44284.1 | 513 | Sequence 82 from patent US 7258971 |
| GI:193083117 | GenBank | ABY17652.1 | 514 | Sequence 2 from patent US 7288407 |
| GI:55770850 | GenBank | ACM84636.1 | 536 | Sequence 10134 from patent US 6812339 |
| GI:193083117 | RefSeq | NP_000773.2 | 514 | 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 1 precursor [Homo sapiens] |
| GI:55770850 | RefSeq | XP_002830483.1 | 514 | PREDICTED: 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial [Pongo abelii] |
| GI:193083117 | RefSeq | XP_003252997.1 | 442 | PREDICTED: 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial-like isoform 2 [Nomascus leucogenys] |
| GI:55770850 | RefSeq | XP_003827565.1 | 514 | PREDICTED: 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X1 [Pan paniscus] |
| GI:193083117 | RefSeq | XP_003827566.1 | 448 | PREDICTED: 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X2 [Pan paniscus] |
| GI:193083117 | RefSeq | XP_003932644.1 | 448 | PREDICTED: 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform X2 [Saimiri boliviensis boliviensis] |
| GI:55770850 | RefSeq | XP_004062438.1 | 514 | PREDICTED: 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial-like isoform 1 [Gorilla gorilla gorilla] |
| GI:193083117 | RefSeq | XP_004062439.1 | 448 | PREDICTED: 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial-like isoform 2 [Gorilla gorilla gorilla] |