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FLASH GENE

Symbol

MUTED

contributors: mct/npt - updated : 08-01-2007

HGNC name	muted homolog (mouse)
HGNC id	18561

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	6p25.1-p24.3      Physical location : 8.014.216 - 8.064.647
Synonym symbol(s)	MU, dJ303A1.3, DKFZp686E2287

DNA

TYPE	functioning gene
STRUCTURE	50.43 kb     4 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	some transcripts of the downstream gene TXNDC5 overlap this gene, but they do not contain an open reading frame for this gene

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed MUTED 4 - 2282 21.5 187 - -

EXPRESSION

Type

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 Cardiovascular heart         Digestive intestine large intestine colon   highly Endocrine adrenal gland           neuroendocrine pituitary       Reproductive male system prostate       Skin/Tegument skin       predominantly

cell lineage
cell lines
fluid/secretion	lymph

at STAGE

physiological period

pregnancy

Text	umbilical cord

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a coiled-coil forming protein
	a possible vacuolar targeting motif (TLPK)

HOMOLOGY

interspecies	ortholog to murine Muted
	ortholog to rattus Muted_predicted
	ortholog to chicken MUTED

Homologene

FAMILY

Muted family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome

basic FUNCTION

involved in the development of lysosome-related organelles, such as melanosomes and platelet-dense granules

CELLULAR PROCESS

cell organization/biogenesis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

part of lysosome-related organelles complex-1 (BLOC-1), with MUTED, PLDN, CNO, SNAPAP, BLOC1S1, BLOC1S2, and BLOC1S3, a ubiquitously expressed multisubunit protein complex required for the normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules

INTERACTION

DNA

RNA

small molecule

protein	pallidin
	dystrobrevin binding protein 1
	CNO/cappuccino

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

schizophrenia

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

mouse model for Hermansky-Pudlak Syndrome