Q93070 (NAR4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ecto-ADP-ribosyltransferase 4
EC=2.4.2.31

Alternative name(s):
ADP-ribosyltransferase C2 and C3 toxin-like 4
Short name=ARTC4
Dombrock blood group carrier molecule
Mono(ADP-ribosyl)transferase 4
NAD(P)(+)--arginine ADP-ribosyltransferase 4
CD_antigen=CD297

Gene names

Name:	ART4
Synonyms:	DO, DOK1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	314 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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-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)].
Sequence similarities	Belongs to the Arg-specific ADP-ribosyltransferase family.

Ontologies

Keywords
Cellular component	Cell membrane Membrane
Coding sequence diversity	Polymorphism
Domain	Signal
Ligand	NAD NADP
Molecular function	Blood group antigen Glycosyltransferase Transferase
PTM	Disulfide bond GPI-anchor Glycoprotein Lipoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	arginine metabolic process Non-traceable author statement Ref.1. Source: UniProtKB protein ADP-ribosylation Non-traceable author statement Ref.5. Source: UniProtKB
Cellular_component	anchored to membrane Inferred from electronic annotation. Source: UniProtKB-KW membrane Non-traceable author statement Ref.5. Source: UniProtKB plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	NAD(P)+-protein-arginine ADP-ribosyltransferase activity Non-traceable author statement Ref.5. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 46	46	Potential
	Chain	47 – 285	239	Ecto-ADP-ribosyltransferase 4		PRO_0000019329
	Propeptide	286 – 314	29	Removed in mature form Potential		PRO_0000019330
Sites
	Active site	251	1	By similarity
	Binding site	126	1	NAD By similarity
	Binding site	206	1	NAD By similarity
	Binding site	240	1	NAD By similarity
Amino acid modifications
	Lipidation	285	1	GPI-anchor amidated alanine Potential
	Glycosylation	114	1	N-linked (GlcNAc...) Potential
	Glycosylation	178	1	N-linked (GlcNAc...) Potential
	Glycosylation	222	1	N-linked (GlcNAc...) Potential
	Glycosylation	257	1	N-linked (GlcNAc...) Potential
	Glycosylation	274	1	N-linked (GlcNAc...) Potential
	Disulfide bond	69 ↔ 280		By similarity
	Disulfide bond	182 ↔ 231		By similarity
Natural variations
	Natural variant	108	1	G → V in Hy1 and Hy2. Ref.3 Corresponds to variant rs28362797 [ dbSNP | Ensembl ].		VAR_013707
	Natural variant	117	1	T → I in Jo(a). Ref.3 Corresponds to variant rs28362798 [ dbSNP | Ensembl ].		VAR_013708
	Natural variant	135	1	D → E. Ref.3 Corresponds to variant rs28362799 [ dbSNP | Ensembl ].		VAR_022266
	Natural variant	189	1	T → M. Ref.3 Corresponds to variant rs28362800 [ dbSNP | Ensembl ].		VAR_022267
	Natural variant	265	1	N → D in Do(b), Hy1 and Hy2. Ref.3 Corresponds to variant rs11276 [ dbSNP | Ensembl ].		VAR_013709
	Natural variant	300	1	L → V in Hy1. Ref.3 Corresponds to variant rs3088190 [ dbSNP | Ensembl ].		VAR_013710
Experimental info
	Sequence conflict	48	1	E → Q in CAA65095. Ref.5
	Sequence conflict	116	1	T → S in CAA65095. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Q93070 [UniParc]. Last modified August 13, 2002. Version 2. Checksum: 174913890C9D158F	FASTA	314	35,878
	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

References

	« Hide 'large scale' referencesShow '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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 49-284, VARIANT DO(B).
[7]	"Toward a unified nomenclature for mammalian ADP-ribosyltransferases." Hottiger M.O., Hassa P.O., Luscher B., Schuler H., Koch-Nolte F. Trends Biochem. Sci. 35:208-219(2010) [PubMed] [Europe PMC] [Abstract] Cited for: NOMENCLATURE.
+	Additional computationally mapped references.

Web resources

dbRBC/BGMUT

Blood group antigen gene mutation database

SeattleSNPs

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00004065.
RefSeq	NP_066549.2. NM_021071.2.
UniGene	Hs.591158. Hs.655792. Hs.668803.
3D structure databases
ProteinModelPortal	Q93070.
ModBase	Search...
PTM databases
PhosphoSite	Q93070.
Polymorphism databases
DMDM	22261809.
Proteomic databases
PaxDb	Q93070.
PRIDE	Q93070.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000228936; ENSP00000228936; ENSG00000111339.
GeneID	420.
KEGG	hsa:420.
UCSC	uc001rcl.1. human.
Organism-specific databases
CTD	420.
GeneCards	GC12M014982.
H-InvDB	HIX0036719.
HGNC	HGNC:726. ART4.
HPA	HPA040879.
MIM	110600. gene+phenotype.
neXtProt	NX_Q93070.
PharmGKB	PA142672580.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG44842.
HOGENOM	HOG000273888.
HOVERGEN	HBG004464.
InParanoid	Q93070.
KO	K06717.
OrthoDB	EOG4933J8.
Gene expression databases
ArrayExpress	Q93070.
Bgee	Q93070.
CleanEx	HS_ART4. HS_DOK1.
Genevestigator	Q93070.
GermOnline	ENSG00000111339. Homo sapiens.
Family and domain databases
InterPro	IPR000768. ART. [Graphical view]
PANTHER	PTHR10339. PTHR10339. 1 hit.
Pfam	PF01129. ART. 1 hit. [Graphical view]
PRINTS	PR00970. RIBTRNSFRASE.
PROSITE	PS01291. ART. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	420.
NextBio	1775.
SOURCE	Search...

Entry information

Entry name

NAR4_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 117 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.