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Aliases for MACROD1 Gene

Aliases for MACROD1 Gene

  • MACRO Domain Containing 1 2 3 5
  • [Protein ADP-Ribosylglutamate] Hydrolase 3 4
  • MACRO Domain-Containing Protein 1 3 4
  • LRP16 3 4
  • O-Acetyl-ADP-Ribose Deacetylase MACROD1 3
  • Protein LRP16 4
  • EC 3.2.2.- 4
  • EC 3.5.1.- 4

External Ids for MACROD1 Gene

Previous GeneCards Identifiers for MACROD1 Gene

  • GC11M063523
  • GC11M063767
  • GC11M060094

Summaries for MACROD1 Gene

GeneCards Summary for MACROD1 Gene

MACROD1 (MACRO Domain Containing 1) is a Protein Coding gene. GO annotations related to this gene include hydrolase activity, acting on glycosyl bonds and deacetylase activity. An important paralog of this gene is MACROD2.

UniProtKB/Swiss-Prot for MACROD1 Gene

  • Removes ADP-ribose from glutamate residues in proteins bearing a single ADP-ribose moiety. Inactive towards proteins bearing poly-ADP-ribose. Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins. Plays a role in estrogen signaling. Binds to androgen receptor (AR) and amplifies the transactivation function of AR in response to androgen. May play an important role in carcinogenesis and/or progression of hormone-dependent cancers by feed-forward mechanism that activates ESR1 transactivation. Could be an ESR1 coactivator, providing a positive feedback regulatory loop for ESR1 signal transduction. Could be involved in invasive growth by down-regulating CDH1 in endometrial cancer cells. Enhances ESR1-mediated transcription activity.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MACROD1 Gene

Genomics for MACROD1 Gene

Regulatory Elements for MACROD1 Gene

Enhancers for MACROD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G064006 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +158.3 158348 2.1 MLX ARNT AGO1 ARID4B SP5 NFYC KAT8 MIER3 SMARCA4 GLIS1 MACROD1 ENSG00000256341 ENSG00000256481 OTUB1 NAA40 KCNK4 LOC101927673 PIR58012
GH11G064002 1.2 ENCODE dbSUPER 10.8 +163.5 163472 2.0 SIN3A ZNF48 ZNF335 ZNF121 GLIS2 EGR1 FOS BCLAF1 MXD4 CEBPB ENSG00000256481 MACROD1 ENSG00000256341 NAA40 LOC101927673 PIR58012
GH11G064204 0.9 ENCODE 11.4 -38.6 -38554 1.2 HDGF ATF1 ARNT SIN3A ZNF2 ZNF143 DEK ZNF263 REST ZNF592 TRPT1 NUDT22 DNAJC4 ENSG00000257086 PLCB3 MACROD1 GPR137 BAD FERMT3 GC11M064182
GH11G063950 1 Ensembl ENCODE 10.1 +214.2 214220 2.3 WRNIP1 ASH2L MAX EBF1 POLR2A NFYB EED SCRT2 ZNF143 RELB ENSG00000256100 COX8A MARK2 RNU6-1306P C11orf84 MACROD1 ENSG00000256481 ENSG00000256341 ENSG00000257086 PLCB3
GH11G064131 0.9 ENCODE dbSUPER 10.9 +34.0 34001 0.5 SOX13 REST ZIC2 FOXA1 ZNF664 TBX3 GATA3 ZNF341 ZKSCAN8 PATZ1 TRPT1 FLRT1 MACROD1 ENSG00000256481 ENSG00000256341 GC11M064153 PIR54353
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MACROD1 on UCSC Golden Path with GeneCards custom track

Promoters for MACROD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000040625 -70 1600 HDGF PKNOX1 FOXA2 CREB3L1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766

Genomic Location for MACROD1 Gene

Chromosome:
11
Start:
63,998,556 bp from pter
End:
64,166,130 bp from pter
Size:
167,575 bases
Orientation:
Minus strand

Genomic View for MACROD1 Gene

Genes around MACROD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MACROD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MACROD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MACROD1 Gene

Proteins for MACROD1 Gene

  • Protein details for MACROD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BQ69-MACD1_HUMAN
    Recommended name:
    O-acetyl-ADP-ribose deacetylase MACROD1
    Protein Accession:
    Q9BQ69
    Secondary Accessions:
    • Q9UH96

    Protein attributes for MACROD1 Gene

    Size:
    325 amino acids
    Molecular mass:
    35505 Da
    Quaternary structure:
    • Interacts with ESR1; Interacts in a manner that is estrogen independent but is enhanced by estrogen. Interacts (via macro domain) with AR.
    Miscellaneous:
    • Overexpression may promote MCF-7 cells proliferation. There is an approximate one-third increase of the invasive capacity of MACROD1-overexpressing cells. The expression of CDH1 is repressed by MACROD1. Further analyzes demonstrats that MACROD1 inhibits CDH1 transactivation in a dose dependent manner. Inhibition is abolished by estrogen deprivation, indicating that the down-regulation of CDH1 transcription by MACROD1 requires ESR1 mediation. Binding of ESR1 to the CDH1 promoter is antagonized by MACROD1, suggesting that MACROD1 could interfere with ESR1-mediated transcription. Knockdown of MACROD1 leads to impaired AR function and greatly attenuates the coactivation of AR by other AR coactivators such as UXT and NCOA1. This interference also markedly inhibits the androgen-stimulated proliferation of androgen-sensitive LNCaP prostate cancer cells. MACROD1 knockdown does not significantly affect the growth rate of AR-negative PC-3 prostate cancer cells.
    SequenceCaution:
    • Sequence=AAH03188.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH03188.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MACROD1 Gene

neXtProt entry for MACROD1 Gene

Post-translational modifications for MACROD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MACROD1 Gene

No data available for DME Specific Peptides for MACROD1 Gene

Domains & Families for MACROD1 Gene

Protein Domains for MACROD1 Gene

Suggested Antigen Peptide Sequences for MACROD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MACROD1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for MACROD1 Gene

Function for MACROD1 Gene

Molecular function for MACROD1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=373 uM for O-acetyl-ADP-ribose {ECO:0000269 PubMed:21257746};
UniProtKB/Swiss-Prot EnzymeRegulation:
Subject to competitive inhibition by the product ADP-ribose.
UniProtKB/Swiss-Prot Function:
Removes ADP-ribose from glutamate residues in proteins bearing a single ADP-ribose moiety. Inactive towards proteins bearing poly-ADP-ribose. Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins. Plays a role in estrogen signaling. Binds to androgen receptor (AR) and amplifies the transactivation function of AR in response to androgen. May play an important role in carcinogenesis and/or progression of hormone-dependent cancers by feed-forward mechanism that activates ESR1 transactivation. Could be an ESR1 coactivator, providing a positive feedback regulatory loop for ESR1 signal transduction. Could be involved in invasive growth by down-regulating CDH1 in endometrial cancer cells. Enhances ESR1-mediated transcription activity.
UniProtKB/Swiss-Prot Induction:
Overexpressed by estrogens in breast cancer MCF-7 cells, probably via an activation of nuclear receptors for steroids (ESR1 but not ESR2). Significantly increased by estrogens in ESR1-positive Ishikawa endometrial cancer cells. Up-regulated in 17-beta-estradiol-responsive BG-1 ovarian cancer cells but down-regulated in estrogen-resistant SKOV3 ovarian cancer cells. Induced by androgen.

Enzyme Numbers (IUBMB) for MACROD1 Gene

Gene Ontology (GO) - Molecular Function for MACROD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17914104
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IDA 23474712
GO:0019213 deacetylase activity IDA 21257746
genes like me logo Genes that share ontologies with MACROD1: view

Animal Model Products

CRISPR Products

miRNA for MACROD1 Gene

miRTarBase miRNAs that target MACROD1

Inhibitory RNA Products

Clone Products

No data available for Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MACROD1 Gene

Localization for MACROD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MACROD1 Gene

Nucleus. Note=Recruited to DNA lesions, probably via mono-APD-ribosylated proteins.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MACROD1 gene
Compartment Confidence
nucleus 5
mitochondrion 4
peroxisome 2
cytosol 1

Gene Ontology (GO) - Cellular Components for MACROD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 23474712
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with MACROD1: view

Pathways & Interactions for MACROD1 Gene

SuperPathways for MACROD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MACROD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006974 cellular response to DNA damage stimulus IMP 23474712
GO:0042278 purine nucleoside metabolic process IDA 21257746
GO:0051725 protein de-ADP-ribosylation IDA 23474712
genes like me logo Genes that share ontologies with MACROD1: view

No data available for Pathways by source and SIGNOR curated interactions for MACROD1 Gene

Drugs & Compounds for MACROD1 Gene

No Compound Related Data Available

Transcripts for MACROD1 Gene

Unigene Clusters for MACROD1 Gene

MACRO domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MACROD1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1: -
SP2: -

Relevant External Links for MACROD1 Gene

GeneLoc Exon Structure for
MACROD1
ECgene alternative splicing isoforms for
MACROD1

Expression for MACROD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MACROD1 Gene

mRNA differential expression in normal tissues according to GTEx for MACROD1 Gene

This gene is overexpressed in Muscle - Skeletal (x10.0) and Heart - Left Ventricle (x4.5).

Protein differential expression in normal tissues from HIPED for MACROD1 Gene

This gene is overexpressed in Skin (10.9), Heart (7.6), and Tonsil (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MACROD1 Gene



Protein tissue co-expression partners for MACROD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MACROD1 Gene:

MACROD1

SOURCE GeneReport for Unigene cluster for MACROD1 Gene:

Hs.602898

Evidence on tissue expression from TISSUES for MACROD1 Gene

  • Nervous system(4.4)
  • Blood(4.3)
  • Eye(4.2)
  • Lung(2.4)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with MACROD1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MACROD1 Gene

Orthologs for MACROD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MACROD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MACROD1 34 35
  • 99.59 (n)
cow
(Bos Taurus)
Mammalia MACROD1 34 35
  • 89.54 (n)
dog
(Canis familiaris)
Mammalia MACROD1 34 35
  • 89.54 (n)
mouse
(Mus musculus)
Mammalia Macrod1 34 16 35
  • 86.17 (n)
rat
(Rattus norvegicus)
Mammalia Macrod1 34
  • 86.15 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MACROD1 35
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MACROD1 35
  • 70 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68697 34
zebrafish
(Danio rerio)
Actinopterygii macrod1 34 35
  • 55.79 (n)
zgc65960 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8510 34
worm
(Caenorhabditis elegans)
Secernentea B0035.3 35
  • 43 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 53 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8148 34
Species where no ortholog for MACROD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MACROD1 Gene

ENSEMBL:
Gene Tree for MACROD1 (if available)
TreeFam:
Gene Tree for MACROD1 (if available)

Paralogs for MACROD1 Gene

Paralogs for MACROD1 Gene

(1) SIMAP similar genes for MACROD1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MACROD1: view

Variants for MACROD1 Gene

Sequence variations from dbSNP and Humsavar for MACROD1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000004213 -- 64,088,296(+) CCTTG(C/T)GTCAC intron-variant
rs1000005142 -- 64,126,970(+) GACCA(A/G)ATGGC intron-variant
rs1000042637 -- 64,076,537(+) CTGGA(A/G)ACATA intron-variant
rs1000049485 -- 64,145,557(+) GTAGA(C/G)GCCAC intron-variant
rs1000055061 -- 64,007,712(+) CCCCT(C/T)CCCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MACROD1 Gene

Variant ID Type Subtype PubMed ID
dgv15n68 CNV loss 17160897
esv2666053 CNV deletion 23128226
esv2669519 CNV deletion 23128226
esv2744613 CNV deletion 23290073
esv29993 CNV loss 17803354
esv3431264 CNV duplication 20981092
esv3626656 CNV loss 21293372
esv996910 CNV loss 20482838
nsv1042075 CNV loss 25217958
nsv1078325 CNV duplication 25765185
nsv1134139 CNV deletion 24896259
nsv1141196 CNV duplication 24896259
nsv1143685 CNV deletion 24896259
nsv1159904 CNV deletion 26073780
nsv354 CNV insertion 18451855
nsv356 CNV deletion 18451855
nsv469961 CNV loss 18288195
nsv473286 CNV novel sequence insertion 20440878
nsv555181 CNV loss 21841781
nsv555182 CNV loss 21841781
nsv555183 CNV loss 21841781
nsv555184 CNV loss 21841781
nsv951010 CNV deletion 24416366

Variation tolerance for MACROD1 Gene

Residual Variation Intolerance Score: 33.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.44; 28.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MACROD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MACROD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MACROD1 Gene

Disorders for MACROD1 Gene

UniProtKB/Swiss-Prot

MACD1_HUMAN
  • Note=A chromosomal aberration involving MACROD1 is found in acute leukemia. Translocation t(11;21)(q13;q22) that forms a RUNX1-MACROD1 fusion protein. {ECO:0000269 PubMed:17532767}.

Relevant External Links for MACROD1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MACROD1

No disorders were found for MACROD1 Gene.

No data available for MalaCards and Genatlas for MACROD1 Gene

Publications for MACROD1 Gene

  1. A family of macrodomain proteins reverses cellular mono-ADP- ribosylation. (PMID: 23474712) Jankevicius G. … Ladurner A.G. (Nat. Struct. Mol. Biol. 2013) 3 4 64
  2. Identification of macrodomain proteins as novel O-acetyl-ADP-ribose deacetylases. (PMID: 21257746) Chen D. … Ahel I. (J. Biol. Chem. 2011) 3 4 64
  3. Differential induction of LRP16 by liganded and unliganded estrogen receptor alpha in SKOV3 ovarian carcinoma cells. (PMID: 19403568) Tian L. … Han W. (J. Endocrinol. 2009) 3 4 64
  4. The single-macro domain protein LRP16 is an essential cofactor of androgen receptor. (PMID: 19022849) Yang J. … Han W.-D. (Endocr. Relat. Cancer 2009) 3 4 64
  5. Estrogenically regulated LRP16 interacts with estrogen receptor alpha and enhances the receptor's transcriptional activity. (PMID: 17914104) Han W.-D. … Mu Y.-M. (Endocr. Relat. Cancer 2007) 3 4 64

Products for MACROD1 Gene

Sources for MACROD1 Gene

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