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

    Gene ID: 4810, updated on 5-Nov-2017
    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; Vega:OTTHUMG00000022799
    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]
    Orthologs
    Location:
    Xp22.2-p22.13
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (17375420..17735994)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (17393357..17754114)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RALBP1 associated Eps domain containing 2 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 45 Neighboring gene chromobox 1 pseudogene 4 Neighboring gene microRNA 4768 Neighboring gene uncharacterized LOC101928389 Neighboring gene NHS antisense RNA 1 Neighboring gene uncharacterized LOC105373142 Neighboring gene family with sequence similarity 136 member A pseudogene Neighboring gene Scm polycomb group protein like 1

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-06-14)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-06-14)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies susceptibility loci for Wilms tumor.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ22511, DKFZp781F2016, DKFZp781L0254

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    lens development in camera-type eye IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    bicellular tight junction IEA
    Inferred from Electronic Annotation
    more info
     
    cell junction IDA
    Inferred from Direct Assay
    more info
     
    focal adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    lamellipodium IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear body IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    Nance-Horan syndrome protein
    Names
    Nance-Horan syndrome (congenital cataracts and dental anomalies)
    congenital cataracts and dental anomalies protein

    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
      5001..365575
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001136024.3NP_001129496.1  Nance-Horan syndrome protein 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/Swiss-Prot
      Q6T4R5
      Related
      ENSP00000381170.3, OTTHUMP00000226877, ENST00000398097.7, OTTHUMT00000379076
      Conserved Domains (1) summary
      pfam15273
      Location:263883
      NHS; NHS-like
    2. NM_001291867.1NP_001278796.1  Nance-Horan syndrome protein 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)
      AY436752, BC136415, CR749300
      UniProtKB/Swiss-Prot
      Q6T4R5
      Conserved Domains (1) summary
      pfam15273
      Location:4401060
      NHS; NHS-like
    3. NM_001291868.1NP_001278797.1  Nance-Horan syndrome protein 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/Swiss-Prot
      Q6T4R5
      Related
      ENSP00000478433.1, ENST00000617601.4
      Conserved Domains (1) summary
      pfam15273
      Location:242862
      NHS; NHS-like
    4. NM_198270.3NP_938011.1  Nance-Horan syndrome protein 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)
      AY436752, BQ017161, KF459002
      Consensus CDS
      CCDS14181.1
      UniProtKB/Swiss-Prot
      Q6T4R5
      Related
      ENSP00000369400.3, OTTHUMP00000024417, ENST00000380060.7, OTTHUMT00000059120
      Conserved Domains (1) summary
      pfam15273
      Location:4191039
      NHS; NHS-like

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      17375420..17735994
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545528.2XP_011543830.1  Nance-Horan syndrome protein isoform X1

      Conserved Domains (1) summary
      pfam15273
      Location:124744
      NHS; NHS-like

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      17424184..17784494
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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