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

Gene ID: 195727, updated on 5-Mar-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 brain; epithelium; eye; skin; and tooth. 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, Apr 2022]
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. 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
  2. Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions. Sharma S, et al. Hum Mol Genet, 2006 Jun 15. PMID 16675532
  3. Organization and annotation of the Xcat critical region: elimination of seven positional candidate genes. Huang KM, et al. Genomics, 2004 May. PMID 15081118
  4. Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation. Burdon KP, et al. Am J Hum Genet, 2003 Nov. PMID 14564667, Free PMC Article
  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 (26) 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)
  • Spontaneous (1)  1 citation
  • Gene trapped (1)  1 citation
  • Radiation induced (1) 
  • Endonuclease-mediated (3) 

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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