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    Nhs NHS actin remodeling regulator [ Mus musculus (house mouse) ]

    Gene ID: 195727, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Nhsprovided by MGI
    Official Full Name
    NHS actin remodeling regulatorprovided by MGI
    Primary source
    MGI:MGI:2684894
    See related
    Ensembl:ENSMUSG00000059493 AllianceGenome:MGI:2684894
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Gm48; Nhs1; Xcat; Gm389
    Summary
    Acts upstream of or within cell differentiation and lens development in camera-type eye. Predicted to be located in Golgi apparatus; cell junction; and nuclear body. Is expressed in several structures, including alimentary system; brain; epithelium; eye; and skin. Used to study Nance-Horan syndrome. Human ortholog(s) of this gene implicated in Nance-Horan syndrome and cataract 40. Orthologous to human NHS (NHS actin remodeling regulator). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    human all
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    Genomic context

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    See Nhs in Genome Data Viewer
    Location:
    X F4; X 74.17 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (160616286..160942437, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (161833290..162159441, complement)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene retinoic acid induced 2 Neighboring gene Scm polycomb group protein like 1 Neighboring gene STARR-seq mESC enhancer starr_48200 Neighboring gene STARR-seq mESC enhancer starr_48202 Neighboring gene predicted gene, 26317 Neighboring gene STARR-seq mESC enhancer starr_48203 Neighboring gene predicted gene, 23794 Neighboring gene thyroid hormone receptor associated protein 3 pseudogene Neighboring gene STARR-seq mESC enhancer starr_48204 Neighboring gene RALBP1 associated Eps domain containing protein 2 Neighboring gene STARR-seq mESC enhancer starr_48205 Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis. Stambolian D, et al. Am J Hum Genet, 1990 Jul. PMID 1971992, Free PMC Article
    2. Radiation-induced forward and reverse specific locus mutations and dominant cataract mutations in treated strain BALB/c and DBA/2 male mice. Favor J, et al. Mutat Res, 1987 Mar. PMID 3821762
    3. NHS-A isoform of the NHS gene is a novel interactor of ZO-1. Sharma S, et al. Exp Cell Res, 2009 Aug 15. PMID 19447104
    4. Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions. Sharma S, et al. Hum Mol Genet, 2006 Jun 15. PMID 16675532
    5. Lens development in a dominant X-linked congenital cataract of the mouse. Grimes PA, et al. Exp Eye Res, 1993 Nov. PMID 8282045

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. the NHS-A isoform of NHS is a novel interactor of ZO-1 and may have a role at tight junctions. This isoform is important in mammalian development especially of the organs in the head.
      Title: NHS-A isoform of the NHS gene is a novel interactor of ZO-1.
    2. The first exon of Nhs1 contains crucial information required for the proper expression and localization of Nhs1 protein.
      Title: Xcat, a novel mouse model for Nance-Horan syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoform.
    3. During lens development, continuous expression of NHS that became restricted to the lens epithelium in pre- and postnatal lens was seen, consistent with the finding that the NHS-A isoform associates with the apical cell membrane in the lens epithelium.
      Title: Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions.
    Submit: New GeneRIF Correction

    Phenotypes

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    Associated conditions

    Description Tests
    X-linked cataract (model for Nance-Horan syndrome)
    GeneReviews: Not available

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Gene trapped (1)  1 citation
    • Radiation induced (1) 
    • Spontaneous (1)  1 citation

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lens development in camera-type eye IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within lens development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cell junction ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nuclear body ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    actin remodeling regulator NHS
    Names
    Nance-Horan syndrome

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001081052.2 → NP_001074521.1  actin remodeling regulator NHS isoform 2

      See identical proteins and their annotated locations for NP_001074521.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      BC147632, BG805095
      Consensus CDS
      CCDS41201.1
      UniProtKB/TrEMBL
      B2RXX7, B9EJX2
      Related
      ENSMUSP00000080280.7, ENSMUST00000081569.7
      Conserved Domains (1) summary
      pfam15273
      Location:416 → 1036
      NHS; NHS-like

    2. NM_001290526.1 → NP_001277455.1  actin remodeling regulator NHS isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL732391, BC147632, BG805095
      Consensus CDS
      CCDS72461.1
      UniProtKB/TrEMBL
      B1AV60, B2RXX7
      Related
      ENSMUSP00000084319.4, ENSMUST00000087085.10
      Conserved Domains (1) summary
      pfam15273
      Location:437 → 1057
      NHS; NHS-like

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      160616286..160942437 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011247800.1 → XP_011246102.1  actin remodeling regulator NHS isoform X3

      UniProtKB/TrEMBL
      B2RXX7
      Conserved Domains (1) summary
      pfam15273
      Location:268 → 906
      NHS; NHS-like

    2. XM_006528766.4 → XP_006528829.1  actin remodeling regulator NHS isoform X4

      UniProtKB/TrEMBL
      B2RXX7
      Conserved Domains (1) summary
      pfam15273
      Location:263 → 901
      NHS; NHS-like

    3. XM_030251266.1 → XP_030107126.1  actin remodeling regulator NHS isoform X2

      UniProtKB/TrEMBL
      B2RXX7
      Conserved Domains (1) summary
      pfam15273
      Location:306 → 944
      NHS; NHS-like

    4. XM_006528765.3 → XP_006528828.1  actin remodeling regulator NHS isoform X1

      UniProtKB/TrEMBL
      B2RXX7
      Conserved Domains (1) summary
      pfam15273
      Location:327 → 965
      NHS; NHS-like
    Nucleotide Protein Strain
    Heading Accession and Version

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