Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	28992
Gene name	Mono-ADP ribosylhydrolase 1
Gene symbol	MACROD1
Synonyms (NCBI Gene)	LRP16
Chromosome	11
Chromosome location	11q13.1

Show/Hide all (23)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023592	hsa-miR-1-3p	Proteomics	18668040
MIRT1124998	hsa-miR-1273	CLIP-seq
MIRT1124999	hsa-miR-1910	CLIP-seq
MIRT1125000	hsa-miR-3154	CLIP-seq
MIRT1125001	hsa-miR-3179	CLIP-seq
MIRT1125002	hsa-miR-3192	CLIP-seq
MIRT1125003	hsa-miR-3621	CLIP-seq
MIRT1125004	hsa-miR-3936	CLIP-seq
MIRT1125005	hsa-miR-4281	CLIP-seq
MIRT1125006	hsa-miR-4300	CLIP-seq
MIRT1125007	hsa-miR-4330	CLIP-seq
MIRT1125008	hsa-miR-4435	CLIP-seq
MIRT1125009	hsa-miR-4449	CLIP-seq
MIRT1125010	hsa-miR-4487	CLIP-seq
MIRT1125011	hsa-miR-455-3p	CLIP-seq
MIRT1125012	hsa-miR-4651	CLIP-seq
MIRT1125013	hsa-miR-4755-3p	CLIP-seq
MIRT1125014	hsa-miR-4781-5p	CLIP-seq
MIRT1125015	hsa-miR-4783-3p	CLIP-seq
MIRT1125016	hsa-miR-608	CLIP-seq
MIRT1125017	hsa-miR-615-5p	CLIP-seq
MIRT1125018	hsa-miR-920	CLIP-seq
MIRT1125013	hsa-miR-4755-3p	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
RARA	Repression	19698236
SP1	Activation	18206366
SPI1	Repression	19698236

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	17914104, 20035625, 21483817, 28514442, 32296183, 33961781
GO:0005634	Component	Nucleus	IDA	23474712
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IBA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0006974	Process	DNA damage response	IBA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IMP	23474712
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IDA	23474712
GO:0019213	Function	Deacetylase activity	IDA	21257746
GO:0019213	Function	Deacetylase activity	IEA
GO:0042278	Process	Purine nucleoside metabolic process	IBA
GO:0042278	Process	Purine nucleoside metabolic process	IDA	21257746
GO:0042278	Process	Purine nucleoside metabolic process	IEA
GO:0051725	Process	Protein de-ADP-ribosylation	IDA	23474712
GO:0061463	Function	O-acetyl-ADP-ribose deacetylase activity	IEA
GO:0140291	Process	Peptidyl-glutamate ADP-deribosylation	IDA	23474714
GO:0140291	Process	Peptidyl-glutamate ADP-deribosylation	IEA
GO:0140293	Function	ADP-ribosylglutamate hydrolase activity	IBA
GO:0140293	Function	ADP-ribosylglutamate hydrolase activity	IDA	23474714
GO:0140293	Function	ADP-ribosylglutamate hydrolase activity	IEA

MIM	HGNC	e!Ensembl
610400	29598	ENSG00000133315

Q9BQ69

Protein name

ADP-ribose glycohydrolase MACROD1 (MACRO domain-containing protein 1) (O-acetyl-ADP-ribose deacetylase MACROD1) (EC 3.1.1.106) (Protein LRP16) ([Protein ADP-ribosylaspartate] hydrolase MACROD1) (EC 3.2.2.-) ([Protein ADP-ribosylglutamate] hydrolase MACROD

Protein function

Removes ADP-ribose from aspartate and glutamate residues in proteins bearing a single ADP-ribose moiety (PubMed:23474712, PubMed:23474714). Inactive towards proteins bearing poly-ADP-ribose (PubMed:23474712, PubMed:23474714). Deacetylates O-acet

PDB

2X47 , 6LH4

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01661	Macro	170 → 283	Macro domain	Domain

Sequence

MSLQSRLSGRLAQLRAAGQLLVPPRPRPGHLAGATRTRSSTCGPPAFLGVFGRRARTSAG
VGAWGAAAVGRTAGVRTWAPLAMAAKVDLSTSTDWKEAKSFLKGLSDKQREEHYFCKDFV
RLKKIPTWKEMAKGVAVKVEEPRYKKDKQLNEKISLLRSDITKLEVDAIVNAANSSLLGG
GGVDGCIHRAAGPLLTDECRTLQSCKTGKAKITGGYRLPAKYVIHTVGPIAYGEPSASQA
AELRSCYLSSLDLLLEHRLRSVAFPCISTGVFGYPCEAAAEIVLATLREWLEQHKDKVDR
LIICVFLEKDEDIYRSRLPHYFPVA

Sequence length

325

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERURICEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (24)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arthritis, Gouty	Gouty arthritis	GWASDB_DG	23263486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	31043756		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	12790785, 17532767, 17893710, 28745792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28745792	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	20649898	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28820388		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20355243	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	17893710		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASDB_DG	23263486		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leukemia	Leukemia	BEFREE	17532767, 17914104, 29551900, 30562745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29748698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	28745792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	28745792	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12790785, 17532767, 17893710, 28745792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	17893710		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29551900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29410655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	27531462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29335066, 29551900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	32427867	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29551900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	29335066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	21483817	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

MACROD1 (mono-ADP ribosylhydrolase 1)