ART4 ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) [Homo sapiens (human)] - Gene

Summary

Official Symbol: ART4provided by HGNC
Official Full Name: ADP-ribosyltransferase 4 (inactive) (Dombrock blood group)provided by HGNC
Primary source: HGNC:HGNC:726
See related: Ensembl:ENSG00000111339 MIM:110600; AllianceGenome:HGNC:726
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DO; DOK1; ARTC4; CD297; DO/ART4
Summary: 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]
Expression: Biased expression in liver (RPKM 8.6), spleen (RPKM 7.9) and 11 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12p12.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (14825569..14843526, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (14702932..14720873, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (14978503..14996460, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Development of DO*A and DO*B Allele Detections to Predict Transfusion-Induced Alloimmunization Risks in Thai Populations.
Title: Development of DO*A and DO*B Allele Detections to Predict Transfusion-Induced Alloimmunization Risks in Thai Populations.
A novel variant DO*A allele with a c.370delT mutation leading to a DO-null phenotype in a Syrian family.
Title: A novel variant DO*A allele with a c.370delT mutation leading to a DO-null phenotype in a Syrian family.
Characterization of two novel DO*B alleles highlights the value of testing selected ethnic groups in understanding DO allele diversity.
Title: Sequencing of the ART4 gene in sub-Saharan cohorts reveals ethnic differences and two new DO alleles: DO*B-Ile5Thr and DO*B-Trp266Arg.
The production, serologic evaluation, and epitope mapping of ten murine monoclonal Dombrock antibodies.
Title: The production, serologic evaluation, and epitope mapping of ten murine monoclonal Dombrock antibodies.
Dombrock genotyping in a native Congolese cohort reveals two novel alleles.
Title: Dombrock genotyping in a native Congolese cohort reveals two novel alleles.
The Dombrock blood group system
Title: The Dombrock blood group system: a review.
Observational study of genetic testing. (HuGE Navigator)
Title: Single PCR multiplex SNaPshot reaction for detection of eleven blood group nucleotide polymorphisms: optimization, validation, and one year of routine clinical use.
Expression of ART4 was analyzed in mononuclear leukocytes.
Title: Analysis of mono-ADP-ribosyltransferase 4 gene expression in human monocytes: splicing pattern and potential regulatory elements.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Blood group, Dombrock system MedGen: C1292294 OMIM: 616060 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:486175

NoName (e-PCR)
- UniSTS:481919

G33063 (e-PCR)
- UniSTS:117639

G41311 (e-PCR)
- UniSTS:19884

A010B03 (e-PCR)
- UniSTS:20729

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NAD+-protein poly-ADP-ribosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables NAD+-protein-arginine ADP-ribosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables nucleotidyltransferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in arginine metabolic process	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in side of membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ecto-ADP-ribosyltransferase 4

Names: ADP-ribosyltransferase 4 (DO blood group); ADP-ribosyltransferase 4 (Dombrock blood group); ADP-ribosyltransferase C2 and C3 toxin-like 4; Do glycoprotein; Dombrock blood group carrier molecule; Dombrock glycoprotein; NAD(+)--protein-arginine ADP-ribosyltransferase 4; NAD(P)(+)--arginine ADP-ribosyltransferase 4; mono-ADP-ribosyltransferase 4

NP_001341575.1

EC 2.4.2.31

NP_066549.2

EC 2.4.2.31

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007477.2 RefSeqGene

Range

4954..22911

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_807

mRNA and Protein(s)

NM_001354646.2 → NP_001341575.1 ecto-ADP-ribosyltransferase 4 isoform 2 precursor

Status: REVIEWED

Source sequence(s)

AC007655, AI149009, AY829437

UniProtKB/TrEMBL

H7C2G2

Related

ENSP00000405689.1, ENST00000420600.2

Conserved Domains (1) summary

cl00173
Location:56 → 277

VIP2; A family of actin-ADP-ribosylating toxin. A member of the Bacillus-prodiced vegetative insecticidal proteins (VIPs) possesses high specificity against the major insect pest, corn rootworms, and belongs to a classs of binary toxins and regulators of ...
NM_021071.4 → NP_066549.2 ecto-ADP-ribosyltransferase 4 isoform 1 precursor

See identical proteins and their annotated locations for NP_066549.2

Status: REVIEWED

Source sequence(s)

AC007655, AF290204, BX096478, CR746266

Consensus CDS

CCDS8668.1

UniProtKB/Swiss-Prot

Q93070, Q9BZ50, Q9BZ51, Q9HB06

UniProtKB/TrEMBL

A8K6J7

Related

ENSP00000228936.4, ENST00000228936.6

Conserved Domains (1) summary

cl00173
Location:56 → 277

VIP2; VIP2; A family of actin-ADP-ribosylating toxin. A member of the Bacillus-prodiced vegetative insecticidal proteins (VIPs) possesses high specificity against the major insect pest, corn rootworms, and belongs to a classs of binary toxins and regulators of ...