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Reviewed, UniProtKB/Swiss-Prot Q93070 (NAR4_HUMAN)

Last modified June 16, 2009. Version 85. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Ecto-ADP-ribosyltransferase 4
    EC=2.4.2.31
Alternative name(s):
    NAD(P)(+)--arginine ADP-ribosyltransferase 4
    Mono(ADP-ribosyl)transferase 4
    Dombrock blood group carrier molecule
    CD_antigen=CD297
Gene names
Name: ART4
Synonyms: DO, DOK1
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length314 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level.

General annotation (Comments)

Catalytic activity

NAD+ + protein-L-arginine = nicotinamide + N(omega)-(ADP-D-ribosyl)-protein-L-arginine.

NADP+ + protein-L-arginine = nicotinamide + N(omega)-((2'-phospho-ADP)-D-ribosyl)-protein-L-arginine.

Subcellular location

Cell membrane; Lipid-anchorGPI-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)].

Sequence similarities

Belongs to the Arg-specific ADP-ribosyltransferase family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 4646 Potential
Chain47 – 285239Ecto-ADP-ribosyltransferase 4
PRO_0000019329
Propeptide286 – 31429Removed in mature form Potential
PRO_0000019330

Sites

Active site2511 By similarity
Binding site1261NAD By similarity
Binding site2061NAD By similarity
Binding site2401NAD By similarity

Amino acid modifications

Lipidation2851GPI-anchor amidated alanine Potential
Glycosylation1141N-linked (GlcNAc...) Potential
Glycosylation1781N-linked (GlcNAc...) Potential
Glycosylation2221N-linked (GlcNAc...) Potential
Glycosylation2571N-linked (GlcNAc...) Potential
Glycosylation2741N-linked (GlcNAc...) Potential
Disulfide bond69 ↔ 280 By similarity
Disulfide bond182 ↔ 231 By similarity

Natural variations

Natural variant1081G → V in Hy1 and Hy2. dbSNP rs28362797.
VAR_013707
Natural variant1171T → I in Jo(a). dbSNP rs28362798.
VAR_013708
Natural variant1351D → E Ref.3
VAR_022266
Natural variant1891T → M Ref.3
VAR_022267
Natural variant2651N → D in Do(b), Hy1 and Hy2. dbSNP rs11276.
VAR_013709
Natural variant3001L → V in Hy1. dbSNP rs3088190.
VAR_013710

Experimental info

Sequence conflict481E → Q in CAA65095. Ref.5
Sequence conflict1161T → S in CAA65095. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Q93070-1 [UniParc].

Last modified August 13, 2002. Version 2.
Checksum: 174913890C9D158F

FASTA31435,878
        10         20         30         40         50         60 
MGPLINRCKK ILLPTTVPPA TMRIWLLGGL LPFLLLLSGL QRPTEGSEVA IKIDFDFAPG 

        70         80         90        100        110        120 
SFDDQYQGCS KQVMEKLTQG DYFTKDIEAQ KNYFRMWQKA HLAWLNQGKV LPQNMTTTHA 

       130        140        150        160        170        180 
VAILFYTLNS NVHSDFTRAM ASVARTPQQY ERSFHFKYLH YYLTSAIQLL RKDSIMENGT 

       190        200        210        220        230        240 
LCYEVHYRTK DVHFNAYTGA TIRFGQFLST SLLKEEAQEF GNQTLFTIFT CLGAPVQYFS 

       250        260        270        280        290        300 
LKKEVLIPPY ELFKVINMSY HPRGNWLQLR STGNLSTYNC QLLKASSKKC IPDPIAIASL 

       310 
SFLTSVIIFS KSRV 

« Hide

References

« Hide 'large scale' references
[1]"Identification of the Dombrock blood group glycoprotein as a polymorphic member of the ADP-ribosyltransferase gene family."
Gubin A.N., Njoroge J.M., Wojda U., Pack S.D., Rios M., Reid M.E., Miller J.L.
Blood 96:2621-2627(2000) [PubMed: 11001920] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT DO(B).
[2]"Insights into the Holley- and Joseph- phenotypes."
Rios M., Hue-Roye K., Oyen R., Miller J., Reid M.E.
Transfusion 42:52-58(2002) [PubMed: 11896313] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS DO(B); JO(A); HY1 AND HY2.
[3]SeattleSNPs variation discovery resource
Submitted (JAN-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS VAL-108; ILE-117; GLU-135; MET-189; ASP-265 AND VAL-300.
[4]"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].
Tissue: Brain.
[5]"Two novel human members of an emerging mammalian gene family related to mono-ADP-ribosylating bacterial toxins."
Koch-Nolte F., Haag F., Braren R., Kuehl M., Hoovers J., Balasubramanian S., Bazan J.F., Thiele H.-G.
Genomics 39:370-376(1997) [PubMed: 9119374] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 48-314.
[6]"Polymerase chain reaction with sequence-specific primers-based genotyping of the human Dombrock blood group DO1 and DO2 alleles and the DO gene frequencies in Chinese blood donors."
Wu G.-G., Jin S.-Z., Deng Z.-H., Zhao T.-M.
Vox Sang. 81:49-51(2001) [PubMed: 11520417] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 49-284, VARIANT DO(B).
+Additional computationally mapped references.

Web resources

dbRBC/BGMUT

Blood group antigen gene mutation database

SeattleSNPs

Cross-references

Sequence databases

AF290204 mRNA. Translation: AAG17845.1.
AF382213, AF382211, AF382212 Genomic DNA. Translation: AAM21462.1.
AF382216, AF382214, AF382215 Genomic DNA. Translation: AAM21464.1.
AF382219, AF382217, AF382218 Genomic DNA. Translation: AAM21465.1.
AF382222, AF382220, AF382221 Genomic DNA. Translation: AAM21466.1.
AF382225, AF382223, AF382224 Genomic DNA. Translation: AAM21467.1.
AY899803 Genomic DNA. Translation: AAW65375.1.
BC074727 mRNA. Translation: AAH74727.1.
X95826 Genomic DNA. Translation: CAA65095.1.
AF340233 Genomic DNA. Translation: AAK11274.1.
AF340234 Genomic DNA. Translation: AAK11275.1.
IPIIPI00004065.
RefSeqNP_066549.2.
UniGeneHs.591158
Hs.655792
Hs.668803

3D structure databases

HSSPHSSP built from PDB template 1GXY based on UniProtKB P20974.
ModBaseSearch...

Proteomic databases

PRIDEQ93070.

Genome annotation databases

EnsemblENSG00000111339. Homo sapiens. [Contig view]
GeneID420.
KEGGhsa:420.

Organism-specific databases

GeneCardsGC12M014874.
H-InvDBHIX0036719.
HGNCHGNC:726. ART4.
MIM110600. gene+phenotype.
PharmGKBPA142672580.
GenAtlasSearch...

Phylogenomic databases

HOGENOMQ93070.
HOVERGENQ93070.

Enzyme and pathway databases

BRENDA2.4.2.31. 247.

Gene expression databases

ArrayExpressQ93070.
BgeeQ93070.
CleanExHS_ART4.
HS_DOK1.
GermOnlineENSG00000111339. Homo sapiens.

Family and domain databases

InterProIPR000768. ART.
[Graphical view]
PANTHERPTHR10339. ART. 1 hit.
PfamPF01129. ART. 1 hit.
[Graphical view]
PRINTSPR00970. RIBTRNSFRASE.
PROSITEPS01291. ART. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio1775.
SOURCESearch...

Entry information

Entry nameNAR4_HUMAN
AccessionPrimary (citable) accession number: Q93070
Secondary accession number(s): Q9BZ50, Q9BZ51, Q9HB06
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: August 13, 2002
Last modified: June 16, 2009
This is version 85 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Blood group antigen proteins

Nomenclature of blood group antigens and list of entries

Human cell differentiation molecules

CD nomenclature of surface proteins of human leucocytes and list of entries

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents