PARP11 poly(ADP-ribose) polymerase family member 11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PARP11provided by HGNC
Official Full Name: poly(ADP-ribose) polymerase family member 11provided by HGNC
Primary source: HGNC:HGNC:1186
See related: Ensembl:ENSG00000111224 MIM:616706; AllianceGenome:HGNC:1186
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ARTD11; MIB006; C12orf6
Summary: Enables NAD+ ADP-ribosyltransferase activity and protein ADP-ribosylase activity. Involved in protein auto-ADP-ribosylation and protein mono-ADP-ribosylation. Located in cytosol; nuclear body; and nuclear envelope. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in prostate (RPKM 3.6), testis (RPKM 3.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12p13.32

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (3808861..3873399, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (3815532..3880061, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (3918027..3982565, 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?

Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Common genetic variation and performance on standardized cognitive tests. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH94352 (e-PCR)
- UniSTS:87822

D10S275 (e-PCR)
- UniSTS:147992

SHGC-50260 (e-PCR)
- UniSTS:59959

G41797 (e-PCR)
- UniSTS:17733

G62285 (e-PCR)
- UniSTS:139341

WI-12349 (e-PCR)
- UniSTS:79242

G41252 (e-PCR)
- UniSTS:58508

G41237 (e-PCR)
- UniSTS:39073

G41236 (e-PCR)
- UniSTS:64193

Homology

Homologs of the PARP11 gene: The PARP11 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and frog.
Orthologs from Annotation Pipeline: 314 organisms have orthologs with human gene PARP11
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NAD+ ADP-ribosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables NAD+ ADP-ribosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables NAD+- protein-cysteine ADP-ribosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables NAD+- protein-lysine ADP-ribosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables NAD+-protein ADP-ribosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables NAD+-protein ADP-ribosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables nucleotidyltransferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in mRNA transport	IEA Inferred from Electronic Annotation more info
involved_in nuclear envelope organization	IEA Inferred from Electronic Annotation more info
involved_in protein auto-ADP-ribosylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
part_of nuclear pore	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: protein mono-ADP-ribosyltransferase PARP11

Names: ADP-ribosyltransferase diphtheria toxin-like 11; poly [ADP-ribose] polymerase 11

NP_001273450.1

EC 2.4.2.30

NP_001273451.1

EC 2.4.2.30

NP_065100.2

EC 2.4.2.30

XP_047285131.1

EC 2.4.2.30

XP_047285132.1

EC 2.4.2.30

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.

mRNA and Protein(s)

NM_001286521.2 → NP_001273450.1 protein mono-ADP-ribosyltransferase PARP11 isoform b

See identical proteins and their annotated locations for NP_001273450.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an exon in the 5' coding region and initiates translation at an alternate downstream start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform 1. Variants 2 and 3 encode the same isoform (b).

Source sequence(s)

AC006207, AK299372, BX953946

Consensus CDS

CCDS66281.1

UniProtKB/Swiss-Prot

Q9NR21

Related

ENSP00000405385.3, ENST00000447133.7

Conserved Domains (1) summary

cd01439
Location:120 → 256

TCCD_inducible_PARP_like; Poly(ADP-ribose) polymerases catalyse the covalent attachment of ADP-ribose units from NAD+ to itself and to a limited number of other DNA binding proteins, which decreases their affinity for DNA. Poly(ADP-ribose) polymerase is a regulatory component ...
NM_001286522.2 → NP_001273451.1 protein mono-ADP-ribosyltransferase PARP11 isoform b

See identical proteins and their annotated locations for NP_001273451.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) contains an alternate exon and lacks an exon in the 5' coding region, and initiates translation at an alternate downstream start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform 1. Variants 2 and 3 encode the same isoform (b).

Source sequence(s)

AC005842, AC006207, BX953946

Consensus CDS

CCDS66281.1

UniProtKB/Swiss-Prot

Q9NR21

Related

ENSP00000397058.2, ENST00000427057.6

Conserved Domains (1) summary

cd01439
Location:120 → 256

TCCD_inducible_PARP_like; Poly(ADP-ribose) polymerases catalyse the covalent attachment of ADP-ribose units from NAD+ to itself and to a limited number of other DNA binding proteins, which decreases their affinity for DNA. Poly(ADP-ribose) polymerase is a regulatory component ...
NM_020367.6 → NP_065100.2 protein mono-ADP-ribosyltransferase PARP11 isoform a

See identical proteins and their annotated locations for NP_065100.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AC006207, BC017569, BX953946

Consensus CDS

CCDS8523.2

UniProtKB/Swiss-Prot

Q8N5Y9, Q9NR21

Related

ENSP00000228820.4, ENST00000228820.9

Conserved Domains (2) summary

smart00678
Location:34 → 114

WWE; Domain in Deltex and TRIP12 homologues. Possibly involved in regulation of ubiquitin-mediated proteolysis

cd01439
Location:201 → 337

TCCD_inducible_PARP_like; Poly(ADP-ribose) polymerases catalyse the covalent attachment of ADP-ribose units from NAD+ to itself and to a limited number of other DNA binding proteins, which decreases their affinity for DNA. Poly(ADP-ribose) polymerase is a regulatory component ...

RNA

NR_104461.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC006207, AK314916, BX953946

Related

ENST00000458162.6