• Gene id: 10536

Gene Summary

• Gene Symbol: P3H3   Gene   UCSC   Ensembl
• Aliases: GRCB, HSU47926, LEPREL2
• Gene name: prolyl 3-hydroxylase 3
• Alternate names: prolyl 3-hydroxylase 3, gene rich cluster, B, leprecan-like 2, procollagen-proline 3-dioxygenase, protein B,
• Gene location: 12p13.31 (6828406: 6839846)     Exons: 15     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene belongs to the leprecan family of proteoglycans, which function as collagen prolyl hydroxylases that are required for proper collagen biosynthesis, folding and assembly. This protein, like other family members, is thought
• OMIM: 610342

SNPs

rs7969759

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.67435923G>A
NC_000012.11   g.67829703G>A|SEQ=[G/A]|GENE=LOC105369812

rs508485

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.94621313C>T
NC_000011.9   g.94354479C>T
NM_152431.3   c.*321C>T
NM_152431.2   c.*321C>T|SEQ=[C/T]|GENE=PIWIL4
LOC105369438   105369438

rs7110167

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.94587071T>C
NC_000011.9   g.94320237T>C
NM_152431.3   c.738T>C
NM_152431.2   c.738T>C|SEQ=[T/C]|GENE=PIWIL4
LOC105369438   105369438

rs57607909

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.94593599G>C
NC_000011.9   g.94326765G>C
NM_152431.3   c.1108G>C
NM_152431.2   c.1108G>C
NP_689644.2   p.Ala370Pro|SEQ=[G/C]|GENE=PIWIL4
LOC105369438   105369438

rs593690

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.94604054C>A
NC_000011.10   g.94604054C>T
NC_000011.9   g.94337220C>A
NC_000011.9   g.94337220C>T
NM_152431.3   c.1636C>A
NM_152431.3   c.1636C>T
NM_152431.2   c.1636C>A
NM_152431.2   c.1636C>T
NP_689644.2   p.Leu546Met|SEQ=[C/A/T]|GENE=PIWIL4
L  

Protein Summary

• Protein general information: Q8IVL6  
  • Name: Prolyl 3 hydroxylase 3 (EC 1.14.11.7) (Leprecan like protein 2) (Protein B)
  • Length: 736  
  • Mass: 81837
  • Tissue specificity: Detected in fetal cartilage (at protein level) (PubMed
• Sequence:

  MLRLLRPLLLLLLLPPPGSPEPPGLTQLSPGAPPQAPDLLYADGLRAYAAGAWAPAVALLREALRSQAALGRVRL
  DCGASCAADPGAALPAVLLGAPEPDSGPGPTQGSWERQLLRAALRRADCLTQCAARRLGPGGAARLRVGSALRDA
  FRRREPYNYLQRAYYQLKKLDLAAAAAHTFFVANPMHLQMREDMAKYRRMSGVRPQSFRDLETPPHWAAYDTGLE
  LLGRQEAGLALPRLEEALQGSLAQMESCRADCEGPEEQQGAEEEEDGAASQGGLYEAIAGHWIQVLQCRQRCVGE
  TATRPGRSFPVPDFLPNQLRRLHEAHAQVGNLSQAIENVLSVLLFYPEDEAAKRALNQYQAQLGEPRPGLGPRED
  IQRFILRSLGEKRQLYYAMEHLGTSFKDPDPWTPAALIPEALREKLREDQEKRPWDHEPVKPKPLTYWKDVLLLE
  GVTLTQDSRQLNGSERAVLDGLLTPAECGVLLQLAKDAAGAGARSGYRGRRSPHTPHERFEGLTVLKAAQLARAG
  TVGSQGAKLLLEVSERVRTLTQAYFSPERPLHLSFTHLVCRSAIEGEQEQRMDLSHPVHADNCVLDPDTGECWRE
  PPAYTYRDYSGLLYLNDDFQGGDLFFTEPNALTVTARVRPRCGRLVAFSSGVENPHGVWAVTRGRRCALALWHTW
  APEHREQEWIEAKELLQESQEEEEEEEEEMPSKDPSPEPPSRRHQRVQDKTGRAPRVREEL

• Structural information:
  • Protein Domains: (561..67-)
    (/note="Fe2OG-dioxygenase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00805"-)
  • Interpro: IPR005123  IPR039575  IPR039839  IPR006620  
  • Prosite: PS00014 PS51471
  • STRING: ENSP00000478600
• Other Databases: GeneCards:  P3H3  Malacards:  P3H3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032963	collagen metabolic process	IBA	biological process
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0019797	procollagen-proline 3-dioxygenase activity	IBA	molecular function
GO:0032964	collagen biosynthetic process	ISS	biological process
GO:0017185	peptidyl-lysine hydroxylation	ISS	biological process
GO:1902494	catalytic complex	ISS	cellular component
GO:0005506	iron ion binding	IEA	molecular function
GO:0031418	L-ascorbic acid binding	IEA	molecular function
GO:0032963	collagen metabolic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	molecular function
GO:0031418	L-ascorbic acid binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0019797	procollagen-proline 3-dioxygenase activity	IEA	molecular function
GO:0017185	peptidyl-lysine hydroxylation	IEA	biological process
GO:0032964	collagen biosynthetic process	IEA	biological process
GO:1902494	catalytic complex	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0019511	peptidyl-proline hydroxylation	IEA	biological process
GO:0019511	peptidyl-proline hydroxylation	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IDA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881