Gene/Proteome Database (LMPD)
LMPD ID
LMP000590
Gene ID
Species
Homo sapiens (Human)
Gene Name
phytanoyl-CoA 2-hydroxylase
Gene Symbol
Synonyms
LN1; LNAP1; PAHX; PHYH1; RD
Alternate Names
phytanoyl-CoA dioxygenase, peroxisomal; phytanic acid oxidase; phytanoil-CoA alpha hydroxylase; phytanoyl-CoA alpha-hydroxylase; phytanoyl-CoA 2 oxoglutarate dioxygenase
Chromosome
10
Map Location
10p13
EC Number
1.14.11.18
Summary
This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Orthologs
Proteins
| phytanoyl-CoA dioxygenase, peroxisomal isoform a precursor | |
|---|---|
| Refseq ID | NP_006205 |
| Protein GI | 5453884 |
| UniProt ID | O14832 |
| mRNA ID | NM_006214 |
| Length | 338 |
| RefSeq Status | REVIEWED |
| MEQLRAAARLQIVLGHLGRPSAGAVVAHPTSGTISSASFHPQQFQYTLDNNVLTLEQRKFYEENGFLVIKNLVPDADIQRFRNEFEKICRKEVKPLGLTVMRDVTISKSEYAPSEKMITKVQDFQEDKELFRYCTLPEILKYVECFTGPNIMAMHTMLINKPPDSGKKTSRHPLHQDLHYFPFRPSDLIVCAWTAMEHISRNNGCLVVLPGTHKGSLKPHDYPKWEGGVNKMFHGIQDYEENKARVHLVMEKGDTVFFHPLLIHGSGQNKTQGFRKAISCHFASADCHYIDVKGTSQENIEKEVVGIAHKFFGAENSVNLKDIWMFRARLVKGERTNL | |
| transit_peptide: 1..30 note: PTS2 - peroxisomal targeting signal 2 calculated_mol_wt: 3121 peptide sequence: MEQLRAAARLQIVLGHLGRPSAGAVVAHPT mat_peptide: 31..338 product: phytanoyl-CoA dioxygenase, peroxisomal isoform a calculated_mol_wt: 35436 peptide sequence: SGTISSASFHPQQFQYTLDNNVLTLEQRKFYEENGFLVIKNLVPDADIQRFRNEFEKICRKEVKPLGLTVMRDVTISKSEYAPSEKMITKVQDFQEDKELFRYCTLPEILKYVECFTGPNIMAMHTMLINKPPDSGKKTSRHPLHQDLHYFPFRPSDLIVCAWTAMEHISRNNGCLVVLPGTHKGSLKPHDYPKWEGGVNKMFHGIQDYEENKARVHLVMEKGDTVFFHPLLIHGSGQNKTQGFRKAISCHFASADCHYIDVKGTSQENIEKEVVGIAHKFFGAENSVNLKDIWMFRARLVKGERTNL | |
| phytanoyl-CoA dioxygenase, peroxisomal isoform b | |
|---|---|
| Refseq ID | NP_001032626 |
| Protein GI | 83281447 |
| UniProt ID | O14832 |
| mRNA ID | NM_001037537 |
| Length | 238 |
| RefSeq Status | REVIEWED |
| MRDVTISKSEYAPSEKMITKVQDFQEDKELFRYCTLPEILKYVECFTGPNIMAMHTMLINKPPDSGKKTSRHPLHQDLHYFPFRPSDLIVCAWTAMEHISRNNGCLVVLPGTHKGSLKPHDYPKWEGGVNKMFHGIQDYEENKARVHLVMEKGDTVFFHPLLIHGSGQNKTQGFRKAISCHFASADCHYIDVKGTSQENIEKEVVGIAHKFFGAENSVNLKDIWMFRARLVKGERTNL | |
Gene Information
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005739 | IEA:Ensembl | C | mitochondrion |
| GO:0005782 | TAS:Reactome | C | peroxisomal matrix |
| GO:0005777 | IDA:UniProtKB | C | peroxisome |
| GO:0031418 | IEA:UniProtKB-KW | F | L-ascorbic acid binding |
| GO:0048037 | IDA:UniProtKB | F | cofactor binding |
| GO:0009055 | TAS:UniProtKB | F | electron carrier activity |
| GO:0046872 | IEA:UniProtKB-KW | F | metal ion binding |
| GO:0048244 | IDA:UniProtKB | F | phytanoyl-CoA dioxygenase activity |
| GO:0044255 | TAS:Reactome | P | cellular lipid metabolic process |
| GO:0001561 | IDA:UniProtKB | P | fatty acid alpha-oxidation |
| GO:0006720 | IDA:UniProtKB | P | isoprenoid metabolic process |
| GO:0097089 | IDA:UniProtKB | P | methyl-branched fatty acid metabolic process |
| GO:0044281 | TAS:Reactome | P | small molecule metabolic process |
KEGG Pathway Links
BIOCYC Pathway Links
| BIOCYC Pathway ID | Description |
|---|---|
| PWY66-387 | fatty acid alpha-oxidation II |
REACTOME Pathway Links
| REACTOME Pathway ID | Description |
|---|---|
| REACT_17003 | Alpha-oxidation of phytanate |
Domain Information
InterPro Annotations
| Accession | Description |
|---|---|
| IPR008775 | Phytanoyl-CoA dioxygenase |
UniProt Annotations
Entry Information
Comments
| Comment Type | Description |
|---|---|
| Alternative Products | Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O14832-1; Sequence=Displayed; Name=2; IsoId=O14832-2; Sequence=VSP_046289; Note=No experimental confirmation available. Gene prediction based on EST data.; |
| Catalytic Activity | Phytanoyl-CoA + 2-oxoglutarate + O(2) = 2- hydroxyphytanoyl-CoA + succinate + CO(2). |
| Cofactor | Name=Fe cation; Xref=ChEBI |
| Cofactor | Name=L-ascorbate; Xref=ChEBI |
| Disease | Refsum disease (RD) [MIM |
| Function | Converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. |
| Interaction | Q9UNS2:COPS3; NbExp=1; IntAct=EBI-721853, EBI-350590; Q9P2S5:WDR8; NbExp=1; IntAct=EBI-721853, EBI-1054904; |
| Pathway | Lipid metabolism; fatty acid metabolism. |
| Similarity | Belongs to the PhyH family. |
| Subcellular Location | Peroxisome. |
| Subunit | Interacts specifically with the immunophilin FKBP52 and PHYHIP. {ECO |
| Tissue Specificity | Expressed in liver, kidney, and T-cells, but not in spleen, brain, heart, lung and skeletal muscle. |
Identical and Related Proteins
Unique RefSeq proteins for LMP000590 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 5453884 | RefSeq | NP_006205 | 338 | phytanoyl-CoA dioxygenase, peroxisomal isoform a precursor |
| 83281447 | RefSeq | NP_001032626 | 238 | phytanoyl-CoA dioxygenase, peroxisomal isoform b |
Identical Sequences to LMP000590 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:5453884 | GenBank | AAF74123.1 | 338 | phytanoyl-CoA hydroxylase [Homo sapiens] |
| GI:5453884 | GenBank | AAH29512.1 | 338 | Phytanoyl-CoA 2-hydroxylase [Homo sapiens] |
| GI:5453884 | GenBank | ABM81933.1 | 338 | phytanoyl-CoA 2-hydroxylase [synthetic construct] |
| GI:5453884 | GenBank | ABM85111.1 | 338 | phytanoyl-CoA 2-hydroxylase, partial [synthetic construct] |
| GI:5453884 | GenBank | AIC54895.1 | 338 | PHYH, partial [synthetic construct] |
| GI:5453884 | SwissProt | O14832.1 | 338 | RecName: Full=Phytanoyl-CoA dioxygenase, peroxisomal; AltName: Full=Phytanic acid oxidase; AltName: Full=Phytanoyl-CoA alpha-hydroxylase; Short=PhyH; Flags: Precursor [Homo sapiens] |
Related Sequences to LMP000590 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:5453884 | EMBL | CAG46852.1 | 338 | PHYH, partial [Homo sapiens] |
| GI:83281447 | GenBank | AAD20602.1 | 338 | phytanoil-CoA alpha hydroxylase [Homo sapiens] |
| GI:83281447 | GenBank | AAF74123.1 | 338 | phytanoyl-CoA hydroxylase [Homo sapiens] |
| GI:83281447 | GenBank | AAH29512.1 | 338 | Phytanoyl-CoA 2-hydroxylase [Homo sapiens] |
| GI:5453884 | GenBank | AAX37045.1 | 339 | phytanoyl-CoA hydroxylase, partial [synthetic construct] |
| GI:5453884 | GenBank | EAW86294.1 | 353 | phytanoyl-CoA 2-hydroxylase, isoform CRA_a [Homo sapiens] |
| GI:5453884 | GenBank | EAW86295.1 | 355 | phytanoyl-CoA 2-hydroxylase, isoform CRA_b [Homo sapiens] |
| GI:5453884 | GenBank | ACM85267.1 | 353 | Sequence 10765 from patent US 6812339 |
| GI:83281447 | GenBank | AIC54895.1 | 338 | PHYH, partial [synthetic construct] |
| GI:83281447 | RefSeq | NP_006205.1 | 338 | phytanoyl-CoA dioxygenase, peroxisomal isoform a precursor [Homo sapiens] |
| GI:5453884 | RefSeq | XP_003806812.2 | 353 | PREDICTED: phytanoyl-CoA dioxygenase, peroxisomal [Pan paniscus] |
| GI:83281447 | SwissProt | O14832.1 | 338 | RecName: Full=Phytanoyl-CoA dioxygenase, peroxisomal; AltName: Full=Phytanic acid oxidase; AltName: Full=Phytanoyl-CoA alpha-hydroxylase; Short=PhyH; Flags: Precursor [Homo sapiens] |