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FLASH GENE

Symbol

HYLS1

contributors: mct/npt - updated : 06-01-2010

HGNC name	hydrolethalus syndrome 1
HGNC id	26558

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	17.03 kb     4 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_145014 4 splicing 1829 NP_659451 34.2 299 - Mee (2005) encoding the same protein than variant 2 NM_001134793 3 splicing 2073 NP_001128265 34.2 299 - Mee (2005) differing in the 5' UTR compared to variant 1 encoding the same protein than variant 1

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 mouth tongue       Lymphoid/Immune thymus       highly Reproductive male system testis

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

HYLS1 family

CATEGORY

motor/contractile

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus
text	localization to centrioles (Dammermann 2009)

basic FUNCTION	plays an essential role in cilia formation (Dammermann 2009)
	required for the apical targeting/anchoring of centrioles at the plasma membrane but not for the intraflagellar transport-dependent extension of the ciliary axoneme (Dammermann 2009)
	dispensable for centriole duplication, centrosome function in cell division, and embryonic viability (Dammermann 2009)
	contributes to basal body organization at the cell surface and helps initiate cilia formation (Dammermann 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HYLS1

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS