Human Gene NHS (uc004cxx.3) Description and Page Index
  Description: Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 1, mRNA.
RefSeq Summary (NM_198270): This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014].
Transcript (Including UTRs)
   Position: hg19 chrX:17,393,543-17,754,113 Size: 360,571 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chrX:17,393,881-17,750,584 Size: 356,704 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:17,393,543-17,754,113)mRNA (may differ from genome)Protein (1630 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: NHS_HUMAN
DESCRIPTION: RecName: Full=Nance-Horan syndrome protein; AltName: Full=Congenital cataracts and dental anomalies protein;
FUNCTION: Unknown. May have a key functions in the regulation of eye, tooth, brain and craniofacial development.
SUBCELLULAR LOCATION: Nucleus (Potential).
TISSUE SPECIFICITY: Detected at low levels in all tissues analyzed. Detected in fetal and adult brain, lens, retina, retinal pigment epithelium, placenta, lymphocytes and fibroblasts. Levels in retinal pigment epithelium, placenta, lymphocytes, and fibroblasts are very low. Expressed also in kidney, lung and thymus.
DISEASE: Defects in NHS are the cause of Nance-Horan syndrome (NHS) [MIM:302350]; also known as cataract-dental syndrome. NHS is a rare X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation. Distinctive dental anomalies are seen in affected males, including supernumerary incisors and crown shaped permanent teeth. Characteristic facial features are anteverted pinnae, long face, and prominent nasal bridge and nose. Carrier females display milder variable symptoms of disease with lens opacities often involving the posterior Y sutures, and on occasion dental anomalies and the characteristic facial features described.
DISEASE: Defects in NHS are the cause of cataract congenital X- linked (CXN) [MIM:302200]. A X-linked form of cataract, manifesting as a congenital nuclear opacity with severe visual impairment in affected males. Heterozygous females have suture cataracts and only slight reduction in vision. Note=Caused by copy number variations predicted to result in altered transcriptional regulation of the NHS gene: a 0.8 Mb segmental duplication- triplication encompassing the NHS, SCML1 and RAI2 genes, and an 4.8 kb intragenic deletion in NHS intron 1.
SIMILARITY: Belongs to the NHS family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): NHS
CDC HuGE Published Literature: NHS

-  MalaCards Disease Associations
  MalaCards Gene Search: NHS
Diseases sorted by gene-association score: nance-horan syndrome* (1446), cataract 40, x-linked* (900), syndromic x-linked intellectual disability* (400), cataract 9, multiple types* (172), early-onset nuclear cataract* (124), cataract, congenital, with microcornea or slight microphthalmia* (100), cataract (11), duodenal obstruction (9), cataract 44* (6), duodenal disease (5), epidermolysis bullosa dystrophica (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.50 RPKM in Cervix - Endocervix
Total median expression: 92.61 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -145.80338-0.431 Picture PostScript Text
3' UTR -899.153529-0.255 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR024845 - NHS_fam

Pfam Domains:
PF15273 - NHS-like

ModBase Predicted Comparative 3D Structure on Q6T4R5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0002088 lens development in camera-type eye
GO:0030154 cell differentiation

Cellular Component:
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005923 bicellular tight junction
GO:0005925 focal adhesion
GO:0016020 membrane
GO:0016324 apical plasma membrane
GO:0016604 nuclear body
GO:0030027 lamellipodium
GO:0030054 cell junction
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  AK302437 - Homo sapiens cDNA FLJ61722 partial cds, highly similar to Nance-Horan syndrome protein.
AY436752 - Homo sapiens Nance-Horan syndrome protein (NHS) mRNA, complete cds.
BC136415 - Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies), mRNA (cDNA clone MGC:168026 IMAGE:9020403), complete cds.
BC171763 - Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies), mRNA (cDNA clone MGC:198477 IMAGE:9054416), complete cds.
GQ988776 - Homo sapiens Nance-Horan syndrome protein isoform A (NHS) mRNA, complete cds, alternatively spliced.
AY456992 - Homo sapiens Nance-Horan syndrome protein isoform 1 (NHS) mRNA, complete cds, alternatively spliced.
CR936788 - Homo sapiens mRNA; cDNA DKFZp781L0254 (from clone DKFZp781L0254).
JD189478 - Sequence 170502 from Patent EP1572962.
AY456993 - Homo sapiens Nance-Horan syndrome protein isoform 2 (NHS) mRNA, complete cds, alternatively spliced.
CR749300 - Homo sapiens mRNA; cDNA DKFZp781F2016 (from clone DKFZp781F2016).
AK026164 - Homo sapiens cDNA: FLJ22511 fis, clone HRC11837, highly similar to HUMMYLCB Human non-muscle myosin alkali light chain mRNA.
JD422926 - Sequence 403950 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: NHS_HUMAN, NM_198270, NP_938011, Q5J7Q0, Q5J7Q1, Q68DR5, Q6T4R5
UCSC ID: uc004cxx.3
RefSeq Accession: NM_198270
Protein: Q6T4R5 (aka NHS_HUMAN)
CCDS: CCDS14181.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_198270.2
exon count: 8CDS single in 3' UTR: no RNA size: 8776
ORF size: 4893CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 9947.00frame shift in genome: no % Coverage: 99.82
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.