Format

Send to:

Choose Destination

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

Gene ID: 4810, updated on 11-Jun-2021

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
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
Try the new Gene table
Try the new Transcript table

Genomic context

See NHS in Genome Data Viewer
Location:
Xp22.2-p22.13
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (17375200..17735994)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (17393323..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 CHP1 pseudogene 3 Neighboring gene family with sequence similarity 136 member A pseudogene Neighboring gene Scm polycomb group protein like 1

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
A genome-wide association study identifies susceptibility loci for Wilms tumor.
GeneReviews: Not available
Anophthalmia-microphthalmia syndrome
MedGen: CN120488 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
involved_in lens development in camera-type eye IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
Nance-Horan syndrome protein
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  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, ENST00000398097.7
    Conserved Domains (1) summary
    pfam15273
    Location:263883
    NHS; NHS-like
  2. NM_001291867.2NP_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)
    AL845433, AY436752, BC136415, CR749300
    UniProtKB/Swiss-Prot
    Q6T4R5
    Related
    ENSP00000502262.1, ENST00000676302.1
    Conserved Domains (1) summary
    pfam15273
    Location:4401060
    NHS; NHS-like
  3. NM_001291868.2NP_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_198270.4NP_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)
    AL845433, AY436752, BQ017161, KF459002
    Consensus CDS
    CCDS14181.1
    UniProtKB/Swiss-Prot
    Q6T4R5
    Related
    ENSP00000369400.3, ENST00000380060.7
    Conserved Domains (1) summary
    pfam15273
    Location:4191039
    NHS; NHS-like

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    17375200..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
Support Center