Human Gene ART4 (ENST00000228936.6) from GENCODE V44
  Description: Homo sapiens ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) (ART4), transcript variant 1, mRNA. (from RefSeq NM_021071)
RefSeq Summary (NM_021071): This gene encodes a protein that contains a mono-ADP-ribosylation (ART) motif. It is a member of the ADP-ribosyltransferase gene family but enzymatic activity has not been demonstrated experimentally. Antigens of the Dombrock blood group system are located on the gene product, which is glycosylphosphatidylinosotol-anchored to the erythrocyte membrane. Allelic variants, some of which lead to adverse transfusion reactions, are known. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Gencode Transcript: ENST00000228936.6
Gencode Gene: ENSG00000111339.12
Transcript (Including UTRs)
   Position: hg38 chr12:14,825,569-14,843,526 Size: 17,958 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg38 chr12:14,829,371-14,843,113 Size: 13,743 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:14,825,569-14,843,526)mRNA (may differ from genome)Protein (314 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NAR4_HUMAN
DESCRIPTION: RecName: Full=Ecto-ADP-ribosyltransferase 4; EC=2.4.2.31; AltName: Full=ADP-ribosyltransferase C2 and C3 toxin-like 4; Short=ARTC4; AltName: Full=Dombrock blood group carrier molecule; AltName: Full=Mono(ADP-ribosyl)transferase 4; AltName: Full=NAD(P)(+)--arginine ADP-ribosyltransferase 4; AltName: CD_antigen=CD297; Flags: Precursor;
CATALYTIC ACTIVITY: NAD(+) + protein-L-arginine = nicotinamide + N(omega)-(ADP-D-ribosyl)-protein-L-arginine.
CATALYTIC ACTIVITY: NADP(+) + protein-L-arginine = nicotinamide + N(omega)-((2'-phospho-ADP)-D-ribosyl)-protein-L-arginine.
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor.
TISSUE SPECIFICITY: Expressed in spleen and T-cells.
POLYMORPHISM: DO is responsible for the Dombrock blood group system. The molecular basis of the Do(a)/Do(b) blood group antigen is a single variation in position 265; Asn-265 corresponds to Do(a) and Asp-265 to Do(b). It is also responsible for the antigens Gregory [Gy(a)], Holley [Hy] and Joseph [Jo(a)].
SIMILARITY: Belongs to the Arg-specific ADP-ribosyltransferase family.
WEB RESOURCE: Name=dbRBC/BGMUT; Note=Blood group antigen gene mutation database; URL="http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=dombrock";
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/do/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ART4
Diseases sorted by gene-association score: arts syndrome (12)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.51 RPKM in Liver
Total median expression: 30.00 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -118.30413-0.286 Picture PostScript Text
3' UTR -965.703802-0.254 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000768 - ART

Pfam Domains:
PF01129 - NAD:arginine ADP-ribosyltransferase

ModBase Predicted Comparative 3D Structure on Q93070
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003956 NAD(P)+-protein-arginine ADP-ribosyltransferase activity
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups

Biological Process:
GO:0006471 protein ADP-ribosylation
GO:0006525 arginine metabolic process

Cellular Component:
GO:0005576 extracellular region
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0031225 anchored component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK074308 - Homo sapiens cDNA FLJ23728 fis, clone HEP14243.
JD144558 - Sequence 125582 from Patent EP1572962.
JD274887 - Sequence 255911 from Patent EP1572962.
JD274886 - Sequence 255910 from Patent EP1572962.
JD496992 - Sequence 478016 from Patent EP1572962.
JD548183 - Sequence 529207 from Patent EP1572962.
JD143544 - Sequence 124568 from Patent EP1572962.
JD143545 - Sequence 124569 from Patent EP1572962.
JD211547 - Sequence 192571 from Patent EP1572962.
JD142533 - Sequence 123557 from Patent EP1572962.
JD222878 - Sequence 203902 from Patent EP1572962.
JD112371 - Sequence 93395 from Patent EP1572962.
JD196117 - Sequence 177141 from Patent EP1572962.
JD222877 - Sequence 203901 from Patent EP1572962.
JD112370 - Sequence 93394 from Patent EP1572962.
JD188053 - Sequence 169077 from Patent EP1572962.
JD112369 - Sequence 93393 from Patent EP1572962.
JD277919 - Sequence 258943 from Patent EP1572962.
AK291662 - Homo sapiens cDNA FLJ75723 complete cds, highly similar to Homo sapiens Dombrock blood group (DO), mRNA.
AY829435 - Homo sapiens Dombrock blood group carrier molecule (DO) mRNA, partial cds, alternatively spliced and 3' UTR.
AY690666 - Homo sapiens mono-ADP-ribosyltransferase 4 (DO) mRNA, partial cds.
AF290204 - Homo sapiens blood group carrier molecule DOK1 mRNA, complete cds.
BC074727 - Homo sapiens ADP-ribosyltransferase 4 (Dombrock blood group), mRNA (cDNA clone MGC:103799 IMAGE:30915180), complete cds.
AY829431 - Homo sapiens Dombrock blood group carrier molecule splice variant II (DO) mRNA, partial cds, alternatively spliced.
AY829432 - Homo sapiens Dombrock blood group carrier molecule splice variant III (DO) mRNA, partial cds, alternatively spliced.
AY829434 - Homo sapiens Dombrock blood group carrier molecule (DO) mRNA, complete cds, alternatively spliced.
KJ896461 - Synthetic construct Homo sapiens clone ccsbBroadEn_05855 ART4 gene, encodes complete protein.
KR712094 - Synthetic construct Homo sapiens clone CCSBHm_00035706 ART4 (ART4) mRNA, encodes complete protein.
KR712095 - Synthetic construct Homo sapiens clone CCSBHm_00035707 ART4 (ART4) mRNA, encodes complete protein.
KR712096 - Synthetic construct Homo sapiens clone CCSBHm_00035708 ART4 (ART4) mRNA, encodes complete protein.
KR712097 - Synthetic construct Homo sapiens clone CCSBHm_00035710 ART4 (ART4) mRNA, encodes complete protein.
AY829436 - Homo sapiens Dombrock blood group carrier molecule (DO) mRNA, partial cds, alternatively spliced and 3' UTR.
AY829437 - Homo sapiens Dombrock blood group carrier molecule (DO) mRNA, partial cds, alternatively spliced.
AY829433 - Homo sapiens Dombrock blood group carrier molecule (DO) mRNA, 5' UTR and partial cds, alternatively spliced.
JD240393 - Sequence 221417 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q93070 (Reactome details) participates in the following event(s):

R-HSA-8940388 GPLD1 hydrolyses GPI-anchors from proteins
R-HSA-163125 Post-translational modification: synthesis of GPI-anchored proteins
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: DO, DOK1, ENST00000228936.1, ENST00000228936.2, ENST00000228936.3, ENST00000228936.4, ENST00000228936.5, NAR4_HUMAN, NM_021071, Q93070, Q9BZ50, Q9BZ51, Q9HB06, uc001rcl.1, uc001rcl.2, uc001rcl.3, uc001rcl.4
UCSC ID: ENST00000228936.6
RefSeq Accession: NM_021071
Protein: Q93070 (aka NAR4_HUMAN)
CCDS: CCDS8668.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.