O15460 (P4HA2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 117.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Prolyl 4-hydroxylase subunit alpha-2 Short name=4-PH alpha-2 EC=1.14.11.2 Alternative name(s): Procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-2 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 535 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins. |
| Catalytic activity | L-proline-[procollagen] + 2-oxoglutarate + O2 = trans-4-hydroxy-L-proline-[procollagen] + succinate + CO2. |
| Cofactor | Binds 1 Fe2+ ion per subunit By similarity. Ascorbate By similarity. |
| Subunit structure | Heterotetramer of two alpha-2 chains and two beta chains (the beta chain is the multi-functional PDI). |
| Subcellular location | |
| Sequence similarities | Belongs to the P4HA family. Contains 1 Fe2OG dioxygenase domain. Contains 1 TPR repeat. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Endoplasmic reticulum |
| Coding sequence diversity | Alternative splicing |
| Domain | Signal TPR repeat |
| Ligand | Iron Metal-binding Vitamin C |
| Molecular function | Dioxygenase Oxidoreductase |
| PTM | Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular component | endoplasmic reticulum lumen Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | L-ascorbic acid binding Inferred from electronic annotation. Source: UniProtKB-KW electron carrier activityTraceable author statement Ref.1. Source: UniProtKB iron ion bindingInferred from electronic annotation. Source: InterPro oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygenInferred from electronic annotation. Source: UniProtKB-KW procollagen-proline 4-dioxygenase activityTraceable author statement. Source: ProtInc |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform IIb (identifier: O15460-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform IIa (identifier: O15460-2) The sequence of this isoform differs from the canonical sequence as follows: 436-451: NDERDTFKHLGTGNRV → RPFDSGLKTEGNRL |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 21 | 21 | Potential | ||||||
| Chain | 22 – 535 | 514 | Prolyl 4-hydroxylase subunit alpha-2 | PRO_0000022726 | |||||
Regions | |||||||||
| Repeat | 207 – 240 | 34 | TPR | ||||||
| Domain | 412 – 520 | 109 | Fe2OG dioxygenase | ||||||
Sites | |||||||||
| Metal binding | 430 | 1 | Iron By similarity | ||||||
| Metal binding | 432 | 1 | Iron By similarity | ||||||
| Metal binding | 501 | 1 | Iron By similarity | ||||||
| Binding site | 511 | 1 | 2-oxoglutarate Potential | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 115 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 264 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 436 – 451 | 16 | NDERD…TGNRV → RPFDSGLKTEGNRL in isoform IIa. | VSP_004506 | |||||
Sequences
| ||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "Cloning of the human prolyl 4-hydroxylase alpha subunit isoform alpha(II) and characterization of the type II enzyme tetramer. The alpha(I) and alpha(II) subunits do not form a mixed alpha(I)alpha(II)beta2 tetramer." Annunen P., Helaakoski T., Myllyharju J., Veijola J., Pihlajaniemi T., Kivirikko K.I. J. Biol. Chem. 272:17342-17348(1997) [PubMed: 9211872] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM IIB). Tissue: Lung. |
| [2] | "Characterization of the human and mouse genes for the alpha subunit of type II prolyl 4-hydroxylase. Identification of a previously unknown alternatively spliced exon and its expression in various tissues." Nokelainen M., Nissi R., Kukkola L., Helaakoski T., Myllyharju J. Eur. J. Biochem. 268:5300-5309(2001) [PubMed: 11606192] [Abstract] Cited for: NUCLEOTIDE SEQUENCE (ISOFORMS IIA AND IIB). |
| [3] | "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. Gray A.M.Genome Res. 13:2265-2270(2003) [PubMed: 12975309] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM IIA). |
| [4] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM IIA). Tissue: Brain. |
| [6] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | U90441 mRNA. Translation: AAB71339.1. AJ314859 Genomic DNA. Translation: CAC85688.1. AJ314859 Genomic DNA. Translation: CAC85689.1. AY358970 mRNA. Translation: AAQ89329.1. CH471062 Genomic DNA. Translation: EAW62341.1. CH471062 Genomic DNA. Translation: EAW62342.1. CH471062 Genomic DNA. Translation: EAW62343.1. CH471062 Genomic DNA. Translation: EAW62346.1. BC035813 mRNA. Translation: AAH35813.1. |
| IPI | IPI00003128. IPI00182373. |
| RefSeq | NP_001017973.1. NM_001017973.1. NP_001017974.1. NM_001017974.1. NP_001136070.1. NM_001142598.1. NP_001136071.1. NM_001142599.1. NP_004190.1. NM_004199.2. |
| UniGene | Hs.519568. |
3D structure databases | |
| ProteinModelPortal | O15460. |
| SMR | O15460. Positions 164-254, 328-522. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O15460. 4 interactions. |
| MINT | MINT-1035479. |
| STRING | O15460. |
Proteomic databases | |
| PRIDE | O15460. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000166534; ENSP00000166534; ENSG00000072682. ENST00000358760; ENSP00000351611; ENSG00000072682. ENST00000379104; ENSP00000368398; ENSG00000072682. ENST00000401867; ENSP00000384999; ENSG00000072682. |
| GeneID | 8974. |
| KEGG | hsa:8974. |
| UCSC | uc003kwh.1. human. uc003kwj.1. human. |
Organism-specific databases | |
| CTD | 8974. |
| GeneCards | GC05M131556. |
| HGNC | HGNC:8547. P4HA2. |
| MIM | 600608. gene. |
| neXtProt | NX_O15460. |
| PharmGKB | PA32875. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG10216. |
| GeneTree | ENSGT00390000018885. |
| HOGENOM | HBG714077. |
| HOVERGEN | HBG006834. |
| InParanoid | O15460. |
| OMA | CKWVSNK. |
| OrthoDB | EOG4QJRN3. |
| PhylomeDB | O15460. |
Enzyme and pathway databases | |
| BRENDA | 1.14.11.2. 2681. |
Gene expression databases | |
| ArrayExpress | O15460. |
| Bgee | O15460. |
| CleanEx | HS_P4HA2. |
| Genevestigator | O15460. |
| GermOnline | ENSG00000072682. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR005123. Oxoglutarate/Fe-dep_oxygenase. IPR006620. Pro_4_hyd_alph. IPR013547. Pro_4_hyd_alph_N. IPR013026. TPR-contain. IPR011990. TPR-like_helical. IPR019734. TPR_repeat. [Graphical view] |
| Gene3D | G3DSA:1.25.40.10. TPR-like_helical. 1 hit. |
| KO | K00472. |
| Pfam | PF03171. 2OG-FeII_Oxy. 1 hit. PF08336. P4Ha_N. 1 hit. [Graphical view] |
| SMART | SM00702. P4Hc. 1 hit. [Graphical view] |
| PROSITE | PS51471. FE2OG_OXY. 1 hit. PS50005. TPR. 1 hit. PS50293. TPR_REGION. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| DrugBank | DB00172. L-Proline. DB00139. Succinic acid. |
| NextBio | 33677. |
| SOURCE | Search... |
Entry information
| Entry name | P4HA2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O15460 Secondary accession number(s): D3DQ85, D3DQ86, Q8WWN0 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 5 Human chromosome 5: entries, gene names and cross-references to MIM |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with