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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NHLH1 Gene

protein-coding   GIFtS: 51
GCID: GC01P160336

Nescient Helix Loop Helix 1


(Previous symbol: HEN1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Nescient Helix Loop Helix 11 2 3     bHLHa352 3
HEN11 2 3 5     NSCL2
Class A Basic Helix-Loop-Helix Protein 352 3     NSCL12
HEN-12 3     Helix-Loop-Helix Protein 12
NSCL-12 3     BHLHA353

External Ids:    HGNC: 78171   Entrez Gene: 48072   Ensembl: ENSG000001717867   OMIM: 1623605   UniProtKB: Q025753   

Export aliases for NHLH1 gene to outside databases

Previous GC identifers: GC01P158128 GC01P156069 GC01P157114 GC01P157553 GC01P157149 GC01P158603 GC01P131693


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NHLH1 Gene:
The helix-loop-helix (HLH) proteins are a family of putative transcription factors, some of which have been shown
to play an important role in growth and development of a wide variety of tissues and species. Four members of
this family have been clearly implicated in tumorigenesis via their involvement in chromosomal translocations in
lymphoid tumors: MYC (MIM 190080), LYL1 (MIM 151440), E2A (MIM 147141), and SCL (MIM 187040).(supplied by OMIM,
Nov 2002)

GeneCards Summary for NHLH1 Gene: 
NHLH1 (nescient helix loop helix 1) is a protein-coding gene. Diseases associated with NHLH1 include neuroblastoma, and retinitis. GO annotations related to this gene include protein dimerization activity and DNA binding. An important paralog of this gene is TWIST1.

UniProtKB/Swiss-Prot: HEN1_HUMAN, Q02575
Function: May serve as DNA-binding protein and may be involved in the control of cell-type determination, possibly
within the developing nervous system

Gene Wiki entry for NHLH1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NHLH1 gene promoter:
         CUTL1   Meis-1b   C/EBPalpha   GATA-2   AREB6   HOXA5   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNHLH1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NHLH1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NHLH1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q22   Ensembl cytogenetic band:  1q23.2   HGNC cytogenetic band: 1q22

NHLH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NHLH1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P160336:  view genomic region     (about GC identifiers)

Start:
160,336,857 bp from pter      End:
160,342,638 bp from pter
Size:
5,782 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: HEN1_HUMAN, Q02575 (See protein sequence)
Recommended Name: Helix-loop-helix protein 1  
Size: 133 amino acids; 14618 Da
Subunit: Efficient DNA binding requires dimerization with another bHLH protein
Subcellular location: Nucleus (By similarity)

Explore the universe of human proteins at neXtProt for NHLH1: NX_Q02575

Explore proteomics data for NHLH1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q02575

  • NHLH1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NHLH1 Protein Expression
    REFSEQ proteins: NP_005589.1  
    ENSEMBL proteins: 
     ENSP00000302189  

    Human Recombinant Protein Products for NHLH1: 
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    OriGene Protein Over-expression Lysate for NHLH1
    OriGene MassSpec for NHLH1 
    OriGene Custom Protein Services for NHLH1
    GenScript Custom Purified and Recombinant Proteins Services for NHLH1
    Novus Biologicals NHLH1 Proteins
    Novus Biologicals NHLH1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NHLH1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    NHLH1 for ontologies           About GeneDecksing



    NHLH1 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for NHLH1 

    Assay Products for NHLH1: 
    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for NHLH1 
    Cloud-Clone Corp. CLIAs for NHLH1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    bHLH: Basic helix-loop-helix proteins

    1 InterPro protein domain:
     IPR011598 bHLH_dom

    Graphical View of Domain Structure for InterPro Entry Q02575

    ProtoNet protein and cluster: Q02575

    1 Blocks protein domain: IPB001092 Basic helix-loop-helix dimerization domain bHLH

    UniProtKB/Swiss-Prot: HEN1_HUMAN, Q02575
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    NHLH1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HEN1_HUMAN, Q02575
    Function: May serve as DNA-binding protein and may be involved in the control of cell-type determination, possibly
    within the developing nervous system

         Genatlas biochemistry entry for NHLH1:
    nescient helix loop helix protein 1,binding the E-box motif,transciently expressed during neuro-genesis,involved
    in retinal development. Also expressed in neuroblastoma cell line

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0046983protein dimerization activity IEA--
         
    NHLH1 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Nhlh1):
     behavior/neurological  cardiovascular system  mortality/aging  nervous system 

    NHLH1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Nhlh1tm1Irk for NHLH1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NHLH1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NHLH1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NHLH1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NHLH1 

    10/858 SABiosciences Target genes for NHLH1 (see all 858):
    ABCC10 ABCG5 ABHD12B ACAD9 ACAP3 ACSM5 ACTL7A ACTL7B ADAMTS14 ADCYAP1R1

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NHLH1
    8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate NHLH1 (see all 25):
    hsa-miR-3149 hsa-miR-1321 hsa-miR-106a hsa-miR-219-5p hsa-miR-519a hsa-miR-340 hsa-miR-3680 hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidNHLH1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NHLH1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NHLH1

    Gene Editing
    Products:
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    Sirion Biotech Customized adenovirus for overexpression of NHLH1

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for NHLH1 (see all 6)
    OriGene ORF clones in mouse, rat for NHLH1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NHLH1 (NM_005598)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NHLH1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NHLH1
    Sirion Biotech Customized lentivirus for stable overexpression of NHLH1 
                         Customized lentivirus expression plasmids for stable overexpression of NHLH1 

    Cell Line
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    Search LifeMap BioReagents cell lines for NHLH1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NHLH1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NHLH1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Transcription factors in neurogenesis
    Transcription factors in neurogenesis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for NHLH1
        Transcription factors in neurogenesis




    NHLH1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NHLH1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/9 Interacting proteins for NHLH1 (Q025753 ENSP000003021894) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LMO2P257913, ENSP000002578184I2D: score=3 STRING: ENSP00000257818
    LMO1P258003, ENSP000003382074I2D: score=2 STRING: ENSP00000338207
    LMO4P619683, ENSP000003595734I2D: score=2 STRING: ENSP00000359573
    CSRP3P504613, ENSP000002659684I2D: score=1 STRING: ENSP00000265968
    TCF3P159233, ENSP000002629654I2D: score=1 STRING: ENSP00000262965
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0007417central nervous system development TAS1328219
    GO:0030154cell differentiation IEA--

    NHLH1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NHLH1 (HEN1)

    Search CenterWatch for drugs/clinical trials and news about NHLH1 / HEN1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NHLH1 gene: 
    NM_005598.3  

    Unigene Cluster for NHLH1:

    Nescient helix loop helix 1
    Hs.30956  [show with all ESTs]
    Unigene Representative Sequence: M96739
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000302101(uc001fwa.2)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NHLH1
    8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate NHLH1 (see all 25):
    hsa-miR-3149 hsa-miR-1321 hsa-miR-106a hsa-miR-219-5p hsa-miR-519a hsa-miR-340 hsa-miR-3680 hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidNHLH1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NHLH1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NHLH1
    Clone
    Products:
         
    OriGene clones in human, mouse for NHLH1 (see all 6)
    OriGene ORF clones in mouse, rat for NHLH1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NHLH1 (NM_005598)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NHLH1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NHLH1
    Sirion Biotech Customized lentivirus for stable overexpression of NHLH1 
                         Customized lentivirus expression plasmids for stable overexpression of NHLH1 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for NHLH1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NHLH1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NHLH1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NHLH1

    Additional mRNA sequence: 

    AK313700.1 BC013789.1 BT006859.1 M96739.1 

    1 DOTS entry:

    DT.80102035 

    19 AceView cDNA sequences:

    H09935 BT006859 M96739 NM_005598 AI733300 AI793327 AA910905 AI791602 
    BU187004 BU173483 BX113024 AI733105 BC013789 AA932591 AI951857 H09936 
    BE778250 BI916874 AW090793 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NHLH1 expression in normal human tissues (normalized intensities)      NHLH1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCTTTGCTT
    NHLH1 Expression
    About this image


    NHLH1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/38 selected tissues (see all 38) fully expand
     
     Brain (Nervous System)    fully expand to see all 23 entries
             Thalamus
             Septum   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Pancreas (Endocrine System)    fully expand to see all 4 entries
             Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
             Islets of Langerhans
             pancreas ; exocrine glandular cells   
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Mesencephalic Ventricular Zone
             spinal cord/lateral wall/ventricular layer   

    See NHLH1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NHLH1

    SOURCE GeneReport for Unigene cluster: Hs.30956
        SABiosciences Custom PCR Arrays for NHLH1
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NHLH1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for NHLH1 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nhlh11 , 5 nescient helix loop helix 11, 5 88.97(n)1
    92.48(a)1
      1 (79.54 cM)5
    180711  NM_010916.21  NP_035046.11 
     1720522925 
    chicken
    (Gallus gallus)
    Aves NHLH11 nescient helix loop helix 1 80(n)
    79.23(a)
      373910  NM_204121.1  NP_989452.1 
    lizard
    (Anolis carolinensis)
    Reptilia NHLH16
    Uncharacterized protein
    88(a)
    possible ortholog
    AAWZ02040013(2204-2462)
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-34f9.36
    si:dkey-34f9.3
    14(a)
    possible ortholog
    9(46857991-46862435)
    fruit fly
    (Drosophila melanogaster)
    Insecta HLH4C1 Helix loop helix protein 4C 74.12(n)
    88.16(a)
      31397  NM_057641.3  NP_476989.2 
    worm
    (Caenorhabditis elegans)
    Secernentea hlh-151 Protein HLH-15 57.89(n)
    67.11(a)
      183427  NM_076039.1  NP_508440.1 


    ENSEMBL Gene Tree for NHLH1 (if available)
    TreeFam Gene Tree for NHLH1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NHLH1 gene
    TWIST12  HAND22  TWIST22  TAL12  NHLH22  LYL12  TAL22  TCF152  
    SCXB2  HAND12  SCXA2  
    9 SIMAP similar genes for NHLH1 using alignment to 2 protein entries:     HEN1_HUMAN (see all proteins):
    SCL    TAL1    tal-1    TAL2    NHLH2    FERD3L
    LYL1    HAND1    TCF15

    NHLH1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/132 SNPs in NHLH1 are shown (see all 132)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1165030861,2
    C,F--160334883(+) CCCCAT/AGAGAC 1 -- us2k11Minor allele frequency- A:0.14WA 118
    rs800463271,2
    F--160334908(+) TCCCTA/GTGTCT 1 -- us2k11Minor allele frequency- G:0.01WA 118
    rs2002642061,2
    --160334949(+) TCTCA-/TTTTTT 1 -- us2k10--------
    rs1815188471,2
    --160334997(+) TCGTCA/GTTTCC 1 -- us2k10--------
    rs1430835941,2
    C--160335147(+) TTGCT-/GGGGGG 1 -- us2k10--------
    rs727066881,2
    --160335318(+) CAGGTA/GGGAGT 1 -- us2k10--------
    rs1151843231,2
    C,F--160335432(+) TTGACC/TAGCAA 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1869008501,2
    --160335519(+) CTCCCG/TTAATT 1 -- us2k10--------
    rs741231841,2
    C,F--160335591(+) TCAAAA/GGGTTG 1 -- us2k13Minor allele frequency- G:0.22WA CSA 121
    rs1404774791,2
    --160335668(+) CTCCAC/GTCATG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NHLH1 (160336857 - 160342638 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for NHLH1: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing NHLH1
    DNA2.0 Custom Variant and Variant Library Synthesis for NHLH1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 162360    OMIM disorders: --

    3 diseases for NHLH1:    About MalaCards
    neuroblastoma    retinitis    neuronitis


    NHLH1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for NHLH1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 1 17507989 (1)


    Export disorders for NHLH1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NHLH1 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with NHLH1)
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    1. A comparative structural characterization of the human NSCL-1 and NSCL-2 genes. Two basic helix-loop-helix genes expressed in the developing nervous system. (PubMed id 1328219)1, 2, 9 Lipkowitz S....Kirsch I.R. (1992)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. HEN1 and HEN2: a subgroup of basic helix-loop-helix genes that are coexpressed in a human neuroblastoma. (PubMed id 1528853)1, 2 Brown L.... Baer R. (1992)
    4. Regulation of neurogenesis by interactions between HEN1 and neuronal LMO proteins. (PubMed id 10603358)1, 9 Bao J....Gautier J. (2000)
    5. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    6. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    8. The LIM-only protein LMO4 modulates the transcriptional activity of HEN1. (PubMed id 12878195)1 Manetopoulos C....Axelson H. (2003)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    10. Molecular characterization of NSCL, a gene encoding a helix-loop-helix protein expressed in the developing nervous system. (PubMed id 1729708)1 Begley C.G....Kirsch I.R. (1992)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4807 HGNC: 7817 AceView: NHLH1 Ensembl:ENSG00000171786 euGenes: HUgn4807
    ECgene: NHLH1 H-InvDB: NHLH1

    (According to HUGE)
    About This Section
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NHLH1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NHLH1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NHLH1 gene:
    Search GeneIP for patents involving NHLH1

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