• Gene id: 417

Gene Summary

• Gene Symbol: ART1   Gene   UCSC   Ensembl
• Aliases: ART2, ARTC1, CD296, RT6
• Gene name: ADP-ribosyltransferase 1
• Alternate names: GPI-linked NAD(P)(+)--arginine ADP-ribosyltransferase 1, ADP-ribosyltransferase 2, ADP-ribosyltransferase C2 and C3 toxin-like 1, mono(ADP-ribosyl)transferase 1,
• Gene location: 11p15.4 (3645109: 3665515)     Exons: 6     NC_000011.10
• Gene summary(Entrez): ADP-ribosyltransferase catalyzes the ADP-ribosylation of arginine residues in proteins. Mono-ADP-ribosylation is a posttranslational modification of proteins that is interfered with by a variety of bacterial toxins including cholera, pertussis, and heat-l
• OMIM: 604621

SNPs

rs868256749

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

NC_000012.12   g.63617303C>T
NC_000012.11   g.64011083C>T
NG_031909.1   g.56272G>A|SEQ=[C/T]|GENE=DPY19L2

rs751879424

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000012.12   g.63617339del
NC_000012.11   g.64011119del
NG_031909.1   g.56236del
NM_173812.4   c.1183del
NM_173812.5   c.1183del
XM_011538218.3   c.172del
XR_001748666.2   n.1335del
XM_006719352.2   c.754del
XM_017019192.2   c.1033del
XM_017019203.2   c.238del
XM_0170  

rs587777206

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

NC_000012.12   g.63624101G>A
NC_000012.11   g.64017881G>A
NG_031909.1   g.49474C>T
NM_173812.4   c.892C>T
NM_173812.5   c.892C>T
XR_001748666.2   n.1044C>T
XM_006719352.2   c.463C>T
XM_017019193.2   c.589C>T
XM_011538215.2   c.379C>T
XR_002957317.1   n.1044C>T
XR_002957  

rs587777205

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

NC_000012.12   g.63569312T>A
NC_000012.12   g.63569312T>G
NC_000012.11   g.63963092T>A
NC_000012.11   g.63963092T>G
NG_031909.1   g.104263A>T
NG_031909.1   g.104263A>C
NM_173812.4   c.2038A>T
NM_173812.4   c.2038A>C
NM_173812.5   c.2038A>T
NM_173812.5   c.2038A>C
XM_011  

rs147579680

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

NC_000012.12   g.63624124C>T
NC_000012.11   g.64017904C>T
NG_031909.1   g.49451G>A
NM_173812.4   c.869G>A
NM_173812.5   c.869G>A
XR_001748666.2   n.1021G>A
XM_006719352.2   c.440G>A
XM_017019193.2   c.566G>A
XM_011538215.2   c.356G>A
XR_002957317.1   n.1021G>A
XR_002957  

rs7896741

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

NC_000010.11   g.75219460G>C
NC_000010.10   g.76979218G>C|SEQ=[G/C]|GENE=VDAC2

rs2804535

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

NC_000010.11   g.75212086C>A
NC_000010.11   g.75212086C>G
NC_000010.11   g.75212086C>T
NC_000010.10   g.76971844C>A
NC_000010.10   g.76971844C>G
NC_000010.10   g.76971844C>T|SEQ=[C/A/G/T]|GENE=VDAC2

rs11001334

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

NC_000010.11   g.75229537C>T
NC_000010.10   g.76989295C>T|SEQ=[C/T]|GENE=VDAC2

Protein Summary

• Protein general information: P52961  
  • Name: GPI linked NAD(P)(+) arginine ADP ribosyltransferase 1 (EC 2.4.2.31) (ADP ribosyltransferase C2 and C3 toxin like 1) (ARTC1) (Mono(ADP ribosyl)transferase 1) (CD antigen CD296)
  • Length: 327  
  • Mass: 36335
• Sequence:

  MQMPAMMSLLLVSVGLMEALQAQSHPITRRDLFSQEIQLDMALASFDDQYAGCAAAMTAALPDLNHTEFQANQVY
  ADSWTLASSQWQERQARWPEWSLSPTRPSPPPLGFRDEHGVALLAYTANSPLHKEFNAAVREAGRSRAHYLHHFS
  FKTLHFLLTEALQLLGSGQRPPRCHQVFRGVHGLRFRPAGPRATVRLGGFASASLKHVAAQQFGEDTFFGIWTCL
  GAPIKGYSFFPGEEEVLIPPFETFQVINASRLAQGPARIYLRALGKHSTYNCEYIKDKKCKSGPCHLDNSAMGQS
  PLSAVWSLLLLLWFLVVRAFPDGPGLL

• Structural information:
  • Interpro: IPR000768  
  • Prosite: PS01291
  • STRING: ENSP00000250693
• Other Databases: GeneCards:  ART1  Malacards:  ART1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003950	NAD+ ADP-ribosyltransferase activity	IBA	molecular function
GO:0018120	peptidyl-arginine ADP-ribosylation	IBA	biological process
GO:0006471	protein ADP-ribosylation	IBA	biological process
GO:0003956	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	IEA	molecular function
GO:0006471	protein ADP-ribosylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0003950	NAD+ ADP-ribosyltransferase activity	TAS	molecular function
GO:0005886	plasma membrane	NAS	cellular component
GO:0006471	protein ADP-ribosylation	TAS	biological process
GO:0003956	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0003956	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	TAS	molecular function
GO:0006471	protein ADP-ribosylation	IEA	biological process
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0003950	NAD+ ADP-ribosyltransferase activity	IEA	molecular function
GO:0033017	sarcoplasmic reticulum membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq