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

Gene ID: 420, updated on 10-Dec-2024

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
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Genomic context

See ART4 in Genome Data Viewer
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_000012.12Genomic Context describing neighboring genes Neighboring gene WW domain binding protein 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6057 Neighboring gene chromosome 12 open reading frame 60 Neighboring gene single-pass membrane protein with coiled-coil domains 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6058 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:15033676-15034875 Neighboring gene matrix Gla protein Neighboring gene uncharacterized LOC124902885

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in extracellular region  
located_in plasma membrane  
located_in side of membrane  

General protein information

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
NP_066549.2

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

  1. NG_007477.2 RefSeqGene

    Range
    4954..22911
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_807

mRNA and Protein(s)

  1. NM_001354646.2NP_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:56277
    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 ...
  2. NM_021071.4NP_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:56277
    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 ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    14825569..14843526 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    14702932..14720873 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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