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FLASH GENE

Symbol

MACROD1

contributors: mct/npt - updated : 08-07-2009

HGNC name	MACRO domain containing 1
HGNC id	29598

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	167.55 kb     11 Exon(s)

regulatory sequence	Promoter
	Binding site   transcription factor   HRE
text structure	ESR1 and Sp1 play a role in activation of the gene promoter (Zhao 2005)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 10 - 1277 isoform 1 - 325 - Yang (2009)

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive salivary gland       highly Urinary kidney       highly Visual eye       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	only a stand-alone macro domain functional module that can
	serve as the AR coactivator (Yang 2009)

HOMOLOGY

Homologene

FAMILY

macro domain superfamily

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria

basic FUNCTION	cooperates with the estrogen receptor alpha and enhances the receptor transcriptional activity in an estrogen-dependent manner (Yang 2009)
	plays an essential role in AR transactivation (Yang 2009)
	may be involved in estrogen signaling (Han 2007)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	binds to androgen receptor (AR) via its macro domain and amplifies the transactivation function of AR in response to androgen (Yang 2009)
	physically interacts with ERalpha (ESRT1) in a manner that is estrogen independent but is enhanced by estrogen (Han 2007)

cell & other

REGULATION

Other

estrogenically regulated and it can stimulate the proliferation of MCF-7 breast cancer cells (Han 2007)

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       with RUNX1 (RUNX1 fusion partner of LRP16 on 11q13 involving t(11;21)(q13;q22) in monocytic leukemia (Imagama (2009)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS