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FLASH GENE

Symbol

SMPX

contributors: mct - updated : 25-08-2011

HGNC name	small muscle protein, X-linked
HGNC id	11122

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DFN6 deafness 6, neurosensory, progressive
Location	Xp22.12      Physical location : 21.724.091 - 21.776.230
Synonym symbol(s)	Chisel, DFNX4, CSL

DNA

TYPE	functioning gene
STRUCTURE	52.00 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence

Promoter (CAAT box)

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_014332 5 - 886 - 88 - 2001 11401441

EXPRESSION

Type	restricted

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         Hearing/Equilibrium ear inner cochlea     Homo sapiens   ear inner       Homo sapiens Adult Respiratory respiratory tract trachea       Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Hearing / Equilibrium hair cell receptor Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four coiled-coil structures
	two overlapping putative casein kinase
	two phosphorylation sites

HOMOLOGY

interspecies

homolog to porcine Smpx (97 p100)

Homologene

FAMILY

CATEGORY

unknown/unspecified , signaling

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton
	intracellular,nucleus

basic FUNCTION	required during myoblast proliferation
	may be playing a role in skeletal muscle hypertrophy
	localizes to the costameric cytoskeleton of muscle cells through an association with focal adhesion proteins, where it may participate in regulation of cytoskeletal dynamics through the RAC1-MAPK14 pathway
	cytoskeleton-associated protein that is responsive to mechanical stress
	might well be a player in the regulation of stereocilia development and/or maintenance
	can functions in inner ear development and/or maintenance in the IGF1 pathway, the integrin pathway through RAC1, or both

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DFN6

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS