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FLASH GENE

Symbol

SHROOM1

contributors: mct - updated : 26-10-2011

HGNC name	shroom family member 1
HGNC id	24084

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	8.76 kb     7 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001172700 10 - 4039 - 852 - 2006 16684770 NM_133456 7 - 3389 - 847 - 2006 16684770

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 Cardiovascular heart         Homo sapiens Digestive intestine large intestine colon     Homo sapiens   intestine small intestine       Homo sapiens Nervous brain         Homo sapiens Reproductive female system placenta       Homo sapiens Respiratory lung         Homo sapiens Urinary kidney         Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular smooth     predominantly Homo sapiens Muscular striatum skeletal     Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	broadly expressed in developing epithelial organs, and the epithelial cells that express SHROOM are elongated

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a PDZ
	a unique domain, ASD2 (Apx/Shroom domain 2), characteristic signature of the SHRM family

HOMOLOGY

interspecies

homolog to murine Shroom1

Homologene

FAMILY

SHROOM family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane,junction,adherens
	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule

basic FUNCTION	putatively involved in the regulation of amiloride-sensitive sodium channel activity
	critical determinant of the cellular architecture requirig for prosper neurulation
	SHROOM family proteins govern epithelial cell behaviors by coordinating the assembly of both microtubule and actin cytoskeletons
	PDZ-domain protein involved in the regulation and maintenance of cytoskeletal architecture by binding to actin
	involved in linking MCAM to the cytoskeleton
	SHROOM family proteins play an important role in the morphogenesis of several different epithelial tissues during development

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

text	regulator of cell shape changes in the developing nervous system

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

interacts with the cytoplasmic domain of melanoma cell adhesion molecule (MCAM)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in pulmonary arterial hypertension suggesting a link between SHROOM1 expression and pulmonary arterial smooth muscle cell hypertrophy in pulmonary arterial hypertension (

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

mutated in mouse Shrm causing exencepaly, acrania, facial clefting and spina bifida, all of wich can be attributed to failes neural tube closure