MACROD1 mono-ADP ribosylhydrolase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MACROD1provided by HGNC
Official Full Name: mono-ADP ribosylhydrolase 1provided by HGNC
Primary source: HGNC:HGNC:29598
See related: Ensembl:ENSG00000133315 MIM:610400; AllianceGenome:HGNC:29598
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: LRP16
Summary: Enables ADP-ribosylglutamate hydrolase activity and deacetylase activity. Involved in DNA damage response; peptidyl-glutamate ADP-deribosylation; and purine nucleoside metabolic process. Located in nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in kidney (RPKM 9.5), prostate (RPKM 2.7) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (63998558..64166113, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (63988261..64156074, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (63766030..63933585, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Molecular basis for the MacroD1-mediated hydrolysis of ADP-ribosylation.
Title: Molecular basis for the MacroD1-mediated hydrolysis of ADP-ribosylation.
Comparative analysis of MACROD1, MACROD2 and TARG1 expression, localisation and interactome.
Title: Comparative analysis of MACROD1, MACROD2 and TARG1 expression, localisation and interactome.
We demonstrated that LRP16 positively regulates the Wnt signaling pathway in hepatocellular carcinoma (HCC), which elucidates an important mechanism of HCC cell growth, metastasis, and prognosis.
Title: LRP16 prevents hepatocellular carcinoma progression through regulation of Wnt/β-catenin signaling.
These findings revealed the functions of LRP16 in promoting the inflammatory response through activating the Rac1-MAPK1/ERK pathway in human adipocytes.
Title: MACROD1/LRP16 Enhances LPS-Stimulated Inflammatory Responses by Up-Regulating a Rac1-Dependent Pathway in Adipocytes.
Here, the authors report that LRP16 selectively interacts and activates double-stranded RNA-dependent kinase (PKR), and also acts as scaffolds to assist the formation of a ternary complex of PKR and IKKbeta, prolonging the polymers of ADP-ribose (PAR)-dependent nuclear factor kappa B (NF-kappaB) transactivation caused by DNA-damaging agents and confers acquired chemoresistance.
Title: Blockade of the LRP16-PKR-NF-κB signaling axis sensitizes colorectal carcinoma cells to DNA-damaging cytotoxic therapy.
The results indicate that abnormal LRP16 expression is noted in neuroendocrine lung tumors and the expression can give insight into the pathogenesis of the disease.
Title: Aberrant LRP16 protein expression in primary neuroendocrine lung tumors.
LRP16, through its constitutive interactions with PARP1 and IKKgamma, functions to facilitate the lesion-specific recruitment of PARP1 and IKKgamma and, ultimately, the concomitant recruitment of PIASy to IKKgamma in response to DNA damage.
Title: An LRP16-containing preassembly complex contributes to NF-κB activation induced by DNA double-strand breaks.
LRP16 gene overexpression shows a promotive effect on proliferation of K562 cells.
Title: [Promotive effect of LRP16 gene on proliferation of K562 cells].
LRP16 may play an important role in leukemia progression by promoting cell proliferation, regulating cell cycle, and antagonizing radiation-induced DNA damage.
Title: [LRP16 gene function based on bioinformatic analysis].
Findings not only indicate that LRP16 is a crucial regulator for NF-kappaB activation inside the nucleus, but also suggest that LRP16 may be an important contributor to the aberrant activation of NF-kappaB in tumors.
Title: LRP16 integrates into NF-κB transcriptional complex and is required for its functional activation.

Submit: New GeneRIF Correction See all GeneRIFs (20)

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

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

G19248 (e-PCR)
- UniSTS:70665

SHGC-141828 (e-PCR)
- UniSTS:171101

RH119495 (e-PCR)
- UniSTS:133537

D11S2779 (e-PCR)
- UniSTS:151977

FLRT1__6736 (e-PCR)
- UniSTS:468419

SGC33133 (e-PCR)
- UniSTS:34503

STS-R38365 (e-PCR)
- UniSTS:1224

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ADP-ribosylglutamate hydrolase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ADP-ribosylglutamate hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables O-acetyl-ADP-ribose deacetylase activity	IEA Inferred from Electronic Annotation more info
enables deacetylase activity	IDA Inferred from Direct Assay more info	PubMed
enables hydrolase activity, acting on glycosyl bonds	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peptidyl-glutamate ADP-deribosylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein de-ADP-ribosylation	IDA Inferred from Direct Assay more info	PubMed
involved_in purine nucleoside metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in purine nucleoside metabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrion	HTP more info	PubMed
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ADP-ribose glycohydrolase MACROD1

Names: MACRO domain containing 1; MACRO domain-containing protein 1; O-acetyl-ADP-ribose deacetylase MACROD1; [Protein ADP-ribosylaspartate] hydrolase MACROD1; [Protein ADP-ribosylglutamate] hydrolase; [Protein ADP-ribosylglutamate] hydrolase MACROD1

NP_001397948.1

EC 3.1.1.106

NP_054786.2

EC 3.1.1.106

XP_005273997.1

EC 3.1.1.106

XP_006718584.1

EC 3.1.1.106

XP_006718585.1

EC 3.1.1.106

XP_011543272.1

EC 3.1.1.106

XP_054224541.1

EC 3.1.1.106

XP_054224542.1

EC 3.1.1.106

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_001411019.1 → NP_001397948.1 ADP-ribose glycohydrolase MACROD1 isoform 2

Status: VALIDATED

Source sequence(s)

AP000721, AP006333

Consensus CDS

CCDS91496.1

UniProtKB/TrEMBL

A0A6Q8PH91

Related

ENSP00000502549.1, ENST00000675777.1
NM_014067.4 → NP_054786.2 ADP-ribose glycohydrolase MACROD1 isoform 1

See identical proteins and their annotated locations for NP_054786.2

Status: VALIDATED

Source sequence(s)

AF202922, BC003188, BQ637198

Consensus CDS

CCDS8056.1

UniProtKB/Swiss-Prot

Q9BQ69, Q9UH96

Related

ENSP00000255681.6, ENST00000255681.7

Conserved Domains (2) summary

COG2110
Location:152 → 314

YmdB; O-acetyl-ADP-ribose deacetylase (regulator of RNase III), contains Macro domain [Translation, ribosomal structure and biogenesis]

cd02908
Location:153 → 319

Macro_Appr_pase_like; Macro domain, Appr-1"-pase_like family. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ADP-ribose ...

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

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

63998558..64166113 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011544970.3 → XP_011543272.1 ADP-ribose glycohydrolase MACROD1 isoform X1

Conserved Domains (1) summary

PRK00431
Location:153 → 308

PRK00431; ADP-ribose-binding protein
XM_006718521.4 → XP_006718584.1 ADP-ribose glycohydrolase MACROD1 isoform X2

Conserved Domains (1) summary

cl00019
Location:153 → 177

Macro; Macro domain, a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ADP-ribose polymerases). Some macro domains recognize poly ...
XM_006718522.3 → XP_006718585.1 ADP-ribose glycohydrolase MACROD1 isoform X4

Conserved Domains (1) summary

cl00019
Location:153 → 172

Macro; Macro domain, a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ADP-ribose polymerases). Some macro domains recognize poly ...
XM_005273940.3 → XP_005273997.1 ADP-ribose glycohydrolase MACROD1 isoform X3

Related

ENST00000538595.1

Conserved Domains (1) summary

cl00019
Location:153 → 172

Macro; Macro domain, a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ADP-ribose polymerases). Some macro domains recognize poly ...