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FLASH GENE

Symbol

NHS

contributors: mct/npt - updated : 26-10-2018

HGNC name	Nance-Horan syndrome (congenital cataracts and dental anomalies)
HGNC id	7820

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CCXNS3 non syndromic congenital cataract 3 NHS Nance-Horan syndrome
Location	Xp22.2      Physical location : 17.393.542 - 17.754.111
Synonym name	Nance-Horan syndrome protein
Synonym symbol(s)	SCML1, FLJ22511, DKFZp781F2016, DKFZp781L0254, CTRCT40, CXN

DNA

TYPE	functioning gene
STRUCTURE	360.57 kb     10 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_001136024 9 - 8244 NP_001129496 160.8 1474 - 2010 20332100 also called NHS-A having an unusually large intron 1 (350 kb) with NHS-1A are both transcribed from exon 1, but differ in the presence or absence of exon 3a differ from other NHS isoforms in that they contain a WHD domain are critical to the pathogenesis of NHS NM_198270 8 - 8776 NP_938011 176.7 1630 - 2010 20332100 also called NHS-C transcribed and translated from exon 1a thought to be important in the pathogenesis of NHS, because patient mutations identified in exon 1 are only predicted to affect this isoform variant B - - - isoform B - 1355 - 2010 20332100 also called NHS-B transcribed from exon 1b and translated from exon 4 NM_001291867 9 - 8839 NP_001278796 - 1651 - 2010 20332100 NHS1A with NHS-A are both transcribed from exon 1, but differ in the presence or absence of exon 3a . differ from other NHS isoforms in that they contain a WHD domain . are critical to the pathogenesis of NHS NM_001291868 8 - 8181 NP_001278797 - 1453 - 2010 20332100

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       moderately Homo sapiens Digestive mouth tooth     moderately Homo sapiens Hearing/Equilibrium ear inner cochlea   highly Lymphoid/Immune thymus         Nervous brain         Homo sapiens Respiratory respiratory tract larynx     highly Urinary kidney         Visual eye lens     highly Homo sapiens   eye retina     moderately Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Respiratory epithelial cell

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	teeth, brain, fetal eyes, lens, eye anterior segment, optic nerve, retina foveal and macular, RPE and choroid

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four conserved nuclear localization signals
	a functional WHD (WAVE homology domain) which interacts with the Abi family of proteins (Brooks 2010)

HOMOLOGY

interspecies

ortholog to murine Xcat

Homologene

FAMILY

NHS family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane,junction,tight
	intracellular
	intracellular,cytoplasm,organelle,Golgi
	intracellular,nucleus,nucleoplasm,nuclear bodies
text	localized at the tight junction (Sharma 2006)
	localizes to sites of cell–cell contact, the leading edge of lamellipodia and focal adhesions (Brooks 2010)

basic FUNCTION	key functions in the regulation of eye, tooth, brain and craniofacial development
	regulator of actin remodelling and cell morphology, that orchestrates actin regulatory protein function in response to signalling events during development (Brooks 2010)
	essential for maintaining cell morphology through the regulation of actin cytoskeletal dynamics (Brooks 2010)
	also controls lamellipod protrusions in motile cells (Brooks 2010)
	regulatory role of NHS in actin remodeling, is cell type dependent
	encode for a functional WAVE homology domain and to be a part of WAVE heteropentameric complex that is critical for actin remodeling and cell morphology control, and subsequently, for cell motility, migration, and cell contact

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NHS , CCXNS3

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS