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    NHS NHS actin remodeling regulator [ Homo sapiens (human) ]

    Gene ID: 4810, updated on 5-May-2024

    Summary

    Official Symbol
    NHSprovided by HGNC
    Official Full Name
    NHS actin remodeling regulatorprovided by HGNC
    Primary source
    HGNC:HGNC:7820
    See related
    Ensembl:ENSG00000188158 MIM:300457; AllianceGenome:HGNC:7820
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CXN; SCML1; CTRCT40
    Summary
    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]
    Expression
    Broad expression in endometrium (RPKM 2.8), kidney (RPKM 2.8) and 22 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See NHS in Genome Data Viewer
    Location:
    Xp22.2-p22.13
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (17375200..17735994)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (16957799..17318610)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (17393323..17754114)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene chromobox 1 pseudogene 4 Neighboring gene small nucleolar RNA U13 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:17403909-17404450 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:17427751-17428292 Neighboring gene microRNA 4768 Neighboring gene uncharacterized LOC101928389 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:17565654-17566169 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:17566170-17566684 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chrX:17567200-17567713 Neighboring gene NHS antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chrX:17645772-17646631 Neighboring gene uncharacterized LOC105373142 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:17653158-17653816 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:17674013-17674724 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:17674725-17675435 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20684 Neighboring gene CHP1 pseudogene 3 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:17767905-17769104 Neighboring gene Scm polycomb group protein like 1 Neighboring gene family with sequence similarity 136 member A pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Anophthalmia-microphthalmia syndrome
    MedGen: C5680330 GeneReviews: Not available
    Compare labs
    Cataract 40
    MedGen: C4049004 OMIM: 302200 GeneReviews: Not available
    Compare labs
    Nance-Horan syndrome
    MedGen: C0796085 OMIM: 302350 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-04-28)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-04-28)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies susceptibility loci for Wilms tumor.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ22511, DKFZp781F2016, DKFZp781L0254

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in lens development in camera-type eye IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in bicellular tight junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
     
    located_in focal adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lamellipodium IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    actin remodeling regulator NHS
    Names
    Nance-Horan syndrome (congenital cataracts and dental anomalies)
    congenital cataracts and dental anomalies protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_011553.2 RefSeqGene

      Range
      4781..365575
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001136024.4NP_001129496.1  actin remodeling regulator NHS isoform 2

      See identical proteins and their annotated locations for NP_001129496.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon and it thus differs in its 5' UTR and initiates translation at an alternate start codon, compared to variant 3. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 3.
      Source sequence(s)
      AY456992, BQ017161, KF459002
      Consensus CDS
      CCDS48087.1
      UniProtKB/TrEMBL
      A0A087WU78
      Related
      ENSP00000381170.3, ENST00000398097.7
      Conserved Domains (1) summary
      pfam15273
      Location:263883
      NHS; NHS-like
    2. NM_001291867.2NP_001278796.1  actin remodeling regulator NHS isoform 3

      See identical proteins and their annotated locations for NP_001278796.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
      Source sequence(s)
      AL845433, AY436752, BC136415, CR749300
      Consensus CDS
      CCDS94562.1
      UniProtKB/Swiss-Prot
      B7ZVX8, E2DH69, Q5J7Q0, Q5J7Q1, Q68DR5, Q6T4R5
      UniProtKB/TrEMBL
      A0A087WU78
      Related
      ENSP00000502262.1, ENST00000676302.1
      Conserved Domains (1) summary
      pfam15273
      Location:4401060
      NHS; NHS-like
    3. NM_001291868.2NP_001278797.1  actin remodeling regulator NHS isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate 5' terminal exon and it thus differs in its 5' UTR and initiates translation at an alternate start codon, and it also lacks an alternate in-frame exon in the 5' coding region, compared to variant 3. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 3.
      Source sequence(s)
      AY436752, AY456992, CR749300, CR936788
      UniProtKB/TrEMBL
      A0A087WU78
      Related
      ENSP00000478433.1, ENST00000617601.4
      Conserved Domains (1) summary
      pfam15273
      Location:242862
      NHS; NHS-like
    4. NM_198270.4NP_938011.1  actin remodeling regulator NHS isoform 1

      See identical proteins and their annotated locations for NP_938011.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an alternate in-frame exon in the 5' coding region, compared to variant 3, resulting in an isoform (1) that is shorter than isoform 3.
      Source sequence(s)
      AL845433, AY436752, BQ017161, KF459002
      Consensus CDS
      CCDS14181.1
      UniProtKB/TrEMBL
      A0A087WU78
      Related
      ENSP00000369400.3, ENST00000380060.7
      Conserved Domains (1) summary
      pfam15273
      Location:4191039
      NHS; NHS-like

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      17375200..17735994
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442140.1XP_047298096.1  actin remodeling regulator NHS isoform X1

    2. XM_011545528.3XP_011543830.1  actin remodeling regulator NHS isoform X2

      UniProtKB/TrEMBL
      A0A087WU78
      Conserved Domains (1) summary
      pfam15273
      Location:124744
      NHS; NHS-like

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      16957799..17318610
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327129.1XP_054183104.1  actin remodeling regulator NHS isoform X1

    2. XM_054327130.1XP_054183105.1  actin remodeling regulator NHS isoform X2