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FLASH GENE

Symbol

DYX1C1

contributors: mct/npt - updated : 15-11-2014

HGNC name	dyslexia susceptibility 1 candidate 1
HGNC id	21493

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ICS26 immotile cilia syndrome 26
Location	15q21.3      Physical location : 55.709.955 - 55.800.432
Synonym name	dyslexia 1 critical region
Synonym symbol(s)	EKN1, DYX1, DYXC1, FLJ37882, MGC70618, RD, DNAAF4

DNA

TYPE	functioning gene
STRUCTURE	90.48 kb     10 Exon(s)

regulatory sequence

Promoter (TATA box)

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_130810 10 - 2011 NP_570722 48 420 - 2009 18618141 NM_001033559 9 splicing 1905 NP_001028731 - 376 - 2009 18618141 its transcriptional activity was higher in tumor than in normal tissue samples, especially in the colorectal tissue samples NM_001033560 9 splicing 1807 NP_001028732 - 381 - 2009 18618141 its transcriptional activity was higher in tumor than in normal tissue samples, especially in the colorectal tissue samples

EXPRESSION

Type	ubiquitous

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 liver       highly Endocrine neuroendocrine pituitary     highly Nervous brain         Reproductive male system prostate     highly Respiratory respiratory tract trachea     highly Urinary bladder       highly

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Nervous glia Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal p23 domain
	three tetratricopeptide (TPR) domains at C-terminus necessary and sufficient for function in migration (Massinen 2009)

HOMOLOGY

interspecies	ortholog to murine Dyx1c1
	ortholog to rattus dyx1c1

Homologene

FAMILY

TOM70 family

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
	intracellular,nucleus
text	localizes to a fraction of cortical neurons and white matter glial cells
	localizes to the cytoplasm of respiratory epithelial cells

basic FUNCTION	playing a role in neuronal cell stress and ischemia and in dyslexia
	may be functioning in neuronal migration in neocortex
	influences reading and spelling ability with additional effects on short-term information storage or rehearsal
	essential role in cilia growth and function
	newly identified dynein axonemal assembly factor

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

can modulate the expression of nervous system development and neuronal migration genes such as RELN and associate with a number of cytoskeletal proteins

cell & other

REGULATION

Other

regulated by the complex GTF2I, PARP1, and SFPQ proteins, each previously implicated in gene regulation, that form a complex controlling transcription of DYX1C1

ASSOCIATED DISORDERS

corresponding disease(s)

ICS26

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation     loss of function caused a severe ciliary motility defect associated with absent axonemal outer and inner dynein arms (ODAs and IDAs) structures

Susceptibility

to dyslexia (DYX1)

Variant & Polymorphism

Candidate gene	for susceptibility to dyslexia
Marker
Therapy target

ANIMAL & CELL MODELS