Version 5.4
Homo sapiens Gene: NHS
Summary
InnateDB Gene IDBG-48141.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NHS
Gene Name Nance-Horan syndrome (congenital cataracts and dental anomalies)
Synonyms CTRCT40; CXN; SCML1
Species Homo sapiens
Ensembl Gene ENSG00000188158
Encoded Proteins
IDBP-48143
Nance-Horan syndrome (congenital cataracts and dental anomalies)
IDBP-233877
Nance-Horan syndrome (congenital cataracts and dental anomalies)
IDBP-809498
Nance-Horan syndrome (congenital cataracts and dental anomalies)
IDBP-809499
Nance-Horan syndrome (congenital cataracts and dental anomalies)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein may function during the development of the eyes, teeth, and brain. Mutations in this gene have been shown to cause Nance-Horan syndrome. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2008]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:17375420-17735994
Strand Forward strand
Band p22.2
Transcripts
ENST00000380060 ENSP00000369400
ENST00000398097 ENSP00000381170
ENST00000485305
ENST00000615422 ENSP00000480113
ENST00000617601 ENSP00000478433
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0002088 lens development in camera-type eye
GO:0030154 cell differentiation
Cellular Component
GO:0005737 cytoplasm
GO:0005923 tight junction
GO:0005925 focal adhesion
GO:0016324 apical plasma membrane
GO:0030027 lamellipodium
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000059493
View Gene Order
ENSBTAG00000039195
Not yet available
Cross-References
SwissProt Q6T4R5
TrEMBL
UniProt Splice Variant
Entrez Gene 4810
UniGene Hs.201623 Hs.602653
RefSeq NM_001136024 NM_001291867 NM_001291868 NM_198270
HUGO HGNC:7820
OMIM 300457
CCDS CCDS48087 CCDS14181
HPRD 02351
IMGT
EMBL AL845433 AY436752 AY456992 AY456993 BC136415 BC171763 CR749300 GQ988776 Z93242
GenPept AAI36416 AAI71763 AAR03104 AAS13455 AAS13456 ADN85614 CAH18155 CAI41241 CAI42724
RNA Seq Atlas 4810

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca