Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol NHS contributors: mct/npt - updated : 26-10-2018
HGNC name Nance-Horan syndrome (congenital cataracts and dental anomalies)
HGNC id 7820
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
Physical map
ASB9 Xp ankyrin repeat and SOCS box-containing 9 ASB11 Xp22.31 ankyrin repeat and SOCS box-containing 11 PIGA Xp22.1 phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria) FIGF Xp22.1 c-fos induced growth factor (vascular endothelial growth factor D) PIR Xp22.31 c-fos induced growth factor (vascular endothelial growth factor D) BMX Xp22.2 BMX non-receptor tyrosine kinase ACE2 Xp22 angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 NX17 Xp22 kidney-specific membrane protein LOC340591 Xp22.31 similar to carbonic anhydrase VB, mitochondrial precursor; carbonic dehydratase CA5B Xp22.1 carbonic anhydrase VB, mitochondrial U2AF1L2 Xp22.1 U2(RNU2) small nuclear RNA auxiliary factor 1-like 2 AP1S2 Xp36.3-p21.3 adaptor-related protein complex 1, sigma 2 subunit GRPR Xp22.2-p22.13 gastrin-releasing peptide receptor LOC139451 Xp22.22 similar to melanoma antigen, family B, 4; melanoma-associated antigen B4 LOC139452 Xp22.22 similar to 60S ribosomal protein L6 (TAX-responsive enhancer element binding protein 107) (TAXREB107) (Neoplasm-related protein C140) LOC392429 X similar to Hspcb protein CTPS2 Xp22 CTP synthase II CALB3 Xp22.2 calbindin 3, (vitamin D-dependent calcium binding protein) SYAP1 Xp22.31 synapse associated protein 1, SAP47 homolog (Drosophila) CXorf15 Xp22.22 chromosome X open reading frame 15 RBBP7 Xp22.31 retinoblastoma binding protein 7 RNU4P6 Xp22.22 RNA, U4 small nuclear pseudogene 6 REPS2 Xp22.22 RALBP1 associated Eps domain containing 2 PRO0386 Xp22.22 hypothetical protein PRO0386 NHS Xp22.13 Nance-Horan syndrome (congenital cataracts and dental anomalies) SCML1 Xp22 sex comb on midleg-like 1 (Drosophila) LOC392430 X similar to dJ40E16.3 (novel gene similar to D. melanogaster CG5327 ) RAI2 Xp22 retinoic acid induced 2 LOC392431 X similar to Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse) MGC33653 Xp22.22 hypothetical protein MGC33653 SCML2 Xp22 sex comb on midleg-like 2 (Drosophila) CDKL5 Xp22 cyclin-dependent kinase-like 5 RS1 Xp22.2 retinoschisis (X-linked, juvenile) 1 PPEF1 Xp22.2-p22.1 protein phosphatase, EF hand calcium-binding domain 1 PHKA2 Xp22.2-p22.13 phosphorylase kinase, alpha 2 (liver) GPR64 Xp22.22 G protein-coupled receptor 64 PDHA1 Xp22.1 pyruvate dehydrogenase (lipoamide) alpha 1 LOC389840 X similar to MAP/ERK kinase kinase 5; apoptosis signal regulating kinase
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 8244 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
  • 8 - 8776 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
  • - - - - 1355 - 2010 20332100
  • also called NHS-B
  • transcribed from exon 1b and translated from exon 4
  • 9 - 8839 - 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
  • 8 - 8181 - 1453 - 2010 20332100
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately Homo sapiens
    Digestivemouthtooth  moderately Homo sapiens
    Hearing/Equilibriumearinnercochlea highly
    Lymphoid/Immunethymus    
    Nervousbrain     Homo sapiens
    Respiratoryrespiratory tractlarynx  highly
    Urinarykidney    
    Visualeyelens  highly Homo sapiens
     eyeretina  moderately Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Respiratoryepithelial 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