• Gene id: 419

Gene Summary

• Gene Symbol: ART3   Gene   UCSC   Ensembl
• Aliases: ARTC3
• Gene name: ADP-ribosyltransferase 3
• Alternate names: ecto-ADP-ribosyltransferase 3, ADP-ribosyltransferase C2 and C3 toxin-like 3, NAD(P)(+)--arginine ADP-ribosyltransferase 3, mono(ADP-ribosyl)transferase 3, mono-ADP-ribosyltransferase,
• Gene location: 4p15.1-p14 (76011167: 76112801)     Exons: 17     NC_000004.12
• Gene summary(Entrez): This gene encodes an arginine-specific ADP-ribosyltransferase. The encoded protein catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. An
• OMIM: 603086

SNPs

rs16891278

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

NC_000008.11   g.42401679A>G
NC_000008.11   g.42401679A>T
NC_000008.10   g.42259197A>G
NC_000008.10   g.42259197A>T|SEQ=[A/G/T]|GENE=VDAC3

rs7004637

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

NC_000008.11   g.42392929A>G
NC_000008.10   g.42250447A>G|SEQ=[A/G]|GENE=VDAC3
DKK4   27121

rs937283

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

NC_000012.12   g.68808384A>G
NC_000012.11   g.69202164A>G
NG_016708.1   g.5194A>G
NM_002392.5   c.-94A>G
NM_001145339.2   c.-94A>G
XM_006719400.4   c.-281A>G|SEQ=[A/G]|GENE=MDM2

rs6773

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

NC_000008.11   g.42405639T>C
NC_000008.10   g.42263157T>C
NM_005662.7   c.*177T>C
NM_005662.6   c.*177T>C
NM_001135694.2   c.*177T>C
XM_006716394.1   c.*177T>C|SEQ=[T/C]|GENE=VDAC3

rs6836703

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

NC_000004.12   g.76108994G>A
NC_000004.11   g.77030147G>A|SEQ=[G/A]|GENE=ART3

Protein Summary

• Protein general information: Q13508  
  • Name: Ecto ADP ribosyltransferase 3 (EC 2.4.2.31) (ADP ribosyltransferase C2 and C3 toxin like 3) (ARTC3) (Mono(ADP ribosyl)transferase 3) (NAD(P)(+) arginine ADP ribosyltransferase 3)
  • Length: 389  
  • Mass: 43,923
• Sequence:

  MKTGHFEIVTMLLATMILVDIFQVKAEVLDMADNAFDDEYLKCTDRMEIKYVPQLLKEEKASHQQLDTVWENAKA
  KWAARKTQIFLPMNFKDNHGIALMAYISEAQEQTPFYHLFSEAVKMAGQSREDYIYGFQFKAFHFYLTRALQLLR
  KPCEASSKTVVYRTSQGTSFTFGGLNQARFGHFTLAYSAKPQAANDQLTVLSIYTCLGVDIENFLDKESERITLI
  PLNEVFQVSQEGAGNNLILQSINKTCSHYECAFLGGLKTENCIENLEYFQPIYVYNPGEKNQKLEDHSEKNWKLE
  DHGEKNQKLEDHGVKILEPTQIPGMKIPEPFPLPEDKSQGNINNPTPGPVPVPGPKSHPSASSGKLLLPQFGMVI
  ILISVSAINLFVAL

• Structural information:
  • Interpro: IPR000768  
  • Prosite: PS01291
  • STRING: ENSP00000348064
• Other Databases: GeneCards:  ART3  Malacards:  ART3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003950	NAD+ ADP-ribosyltransferase activity	TAS	molecular function
GO:0003956	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	IEA	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006471	protein ADP-ribosylation	IEA	biological process
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0003950	NAD+ ADP-ribosyltransferase activity	TAS	molecular function
GO:0003956	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	IEA	molecular function
GO:0003956	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006471	protein ADP-ribosylation	IEA	biological process
GO:0006471	protein ADP-ribosylation	TAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0003950	NAD+ ADP-ribosyltransferase activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006471	protein ADP-ribosylation	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component

Diseases

Associated diseases	References
Male factor infertility	MIK: 18266473
Spermatogenesis defects	MIK: 22467112
Spermatogenesis defects	MIK: 22467112
Non obstructive azoospermia	MIK: 18266473
Azoospermia	MIK: 18266473
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Impaired spermatogenesis	MIK: 22467112
Non-obstructive azoospermia	MIK: 28718531
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22467112	Impaired spermatogenesis	ART3 (rs6836703: G>A )	Czech	355 (257 fertile controls of proven paternity, 98 sub-/infertile patients)	Male infertility	ART3
18266473	Non-obstructive azoospermia (NOA)	ART3 (rs6836703)		917 (442 NOA patients, 475 fertile men)	Male infertility	ART3
28718531	Non-obstructive azoospermia	c.C1000T, p.(Pro334Ser)	Japanes e	40 patients with idiopathic non-obstructive azoospermia	Male infertility	NGS
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R