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Aliases for NHLH1 Gene

Aliases for NHLH1 Gene

  • Nescient Helix-Loop-Helix 1 2 3 5
  • Class A Basic Helix-Loop-Helix Protein 35 3 4
  • Nescient Helix Loop Helix 1 2 4
  • BHLHa35 3 4
  • NSCL-1 3 4
  • HEN-1 3 4
  • HEN1 3 4
  • Helix-Loop-Helix Protein 1 3
  • NSCL1 3
  • NSCL 3

External Ids for NHLH1 Gene

Previous HGNC Symbols for NHLH1 Gene

  • HEN1

Previous GeneCards Identifiers for NHLH1 Gene

  • GC01P158128
  • GC01P156069
  • GC01P157114
  • GC01P157553
  • GC01P157149
  • GC01P158603
  • GC01P160336
  • GC01P131693
  • GC01P160367

Summaries for NHLH1 Gene

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 Orofacial Cleft and Physical Disorder. GO annotations related to this gene include protein dimerization activity and transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding. An important paralog of this gene is NHLH2.

UniProtKB/Swiss-Prot for NHLH1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NHLH1 Gene

Genomics for NHLH1 Gene

Regulatory Elements for NHLH1 Gene

Enhancers for NHLH1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F160427 1.7 FANTOM5 Ensembl ENCODE 10.2 +144.3 144272 6.0 HDGF PKNOX1 SIN3A ZNF766 CBX5 ZNF143 SP3 JUNB REST TBX21 VANGL2 SLAMF7 SLAMF1 NCSTN ENSG00000228863 NHLH1 ITLN1 CD48 CD244 LY9
GH01F160621 1.3 FANTOM5 ENCODE 9.9 +342.3 342252 13.9 HDGF PKNOX1 ATF1 WRNIP1 GATA2 ZNF207 JUNB TBX21 SMARCA4 PBX2 VANGL2 ENSG00000228863 COPA NCSTN SLAMF7 NHLH1 RNU4-42P ITLN1 SLAMF6 SLAMF1
GH01F159935 1.7 FANTOM5 Ensembl ENCODE 6.2 -345.0 -345048 10.8 HDGF PKNOX1 CREB3L1 SIN3A FEZF1 ZNF2 YY1 ZNF143 FOS ZNF263 ATP1A4 LINC01133 C1orf204 ENSG00000272668 ENSG00000228606 IGSF9 NHLH1 VSIG8 CFAP45 VANGL2
GH01F160216 0.7 ENCODE 10.5 -67.9 -67909 3.3 CTCF HLF CEBPG ATF2 RAD21 ZNF23 ZBTB48 POLR2A GLIS1 IKZF1 NCSTN CASQ1 DCAF8 PEX19 ATP1A2 SLAMF8 NHLH1 IGSF8 ENSG00000228606 PIR40871
GH01F160361 1.5 FANTOM5 Ensembl ENCODE 4.4 +76.2 76204 1.7 HDGF PKNOX1 ARNT KLF13 NCOA1 MEF2D ATF4 MAFF SMARCA4 PBX2 NCSTN VANGL2 NHLH1 IGSF9 SLAMF7 GC01P160354 RNU4-42P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NHLH1 on UCSC Golden Path with GeneCards custom track

Promoters for NHLH1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000080473 -1569 1601 HDGF PKNOX1 ATF1 ARID4B SIN3A DMAP1 ZNF48 YY1 SLC30A9 ZNF143

Genomic Location for NHLH1 Gene

Chromosome:
1
Start:
160,286,369 bp from pter
End:
160,372,848 bp from pter
Size:
86,480 bases
Orientation:
Plus strand

Genomic View for NHLH1 Gene

Genes around NHLH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NHLH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NHLH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NHLH1 Gene

Proteins for NHLH1 Gene

  • Protein details for NHLH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02575-HEN1_HUMAN
    Recommended name:
    Helix-loop-helix protein 1
    Protein Accession:
    Q02575

    Protein attributes for NHLH1 Gene

    Size:
    133 amino acids
    Molecular mass:
    14618 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein.

neXtProt entry for NHLH1 Gene

Post-translational modifications for NHLH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NHLH1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NHLH1 Gene

Domains & Families for NHLH1 Gene

Gene Families for NHLH1 Gene

Protein Domains for NHLH1 Gene

Suggested Antigen Peptide Sequences for NHLH1 Gene

Graphical View of Domain Structure for InterPro Entry

Q02575

UniProtKB/Swiss-Prot:

HEN1_HUMAN :
  • Contains 1 bHLH (basic helix-loop-helix) domain.
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
genes like me logo Genes that share domains with NHLH1: view

Function for NHLH1 Gene

Molecular function for NHLH1 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for NHLH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 12878195
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IDA 12878195
GO:0003677 DNA binding IEA --
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with NHLH1: view
genes like me logo Genes that share phenotypes with NHLH1: view

Animal Models for NHLH1 Gene

MGI Knock Outs for NHLH1:

Animal Model Products

miRNA for NHLH1 Gene

miRTarBase miRNAs that target NHLH1

Transcription Factor Targets for NHLH1 Gene

Selected GeneGlobe predicted Target genes for NHLH1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and HOMER Transcription for NHLH1 Gene

Localization for NHLH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NHLH1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NHLH1 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for NHLH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA --
genes like me logo Genes that share ontologies with NHLH1: view

Pathways & Interactions for NHLH1 Gene

SuperPathways for NHLH1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NHLH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0007275 multicellular organism development IEA --
GO:0007417 central nervous system development TAS 1328219
genes like me logo Genes that share ontologies with NHLH1: view

No data available for Pathways by source and SIGNOR curated interactions for NHLH1 Gene

Transcripts for NHLH1 Gene

mRNA/cDNA for NHLH1 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(19) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NHLH1 Gene

Nescient helix loop helix 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NHLH1 Gene

No ASD Table

Relevant External Links for NHLH1 Gene

GeneLoc Exon Structure for
NHLH1
ECgene alternative splicing isoforms for
NHLH1

Expression for NHLH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NHLH1 Gene

mRNA differential expression in normal tissues according to GTEx for NHLH1 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x4.3), Brain - Putamen (basal ganglia) (x4.2), and Brain - Caudate (basal ganglia) (x4.2).

NURSA nuclear receptor signaling pathways regulating expression of NHLH1 Gene:

NHLH1

SOURCE GeneReport for Unigene cluster for NHLH1 Gene:

Hs.30956
genes like me logo Genes that share expression patterns with NHLH1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for NHLH1 Gene

Orthologs for NHLH1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NHLH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NHLH1 34 35
  • 99.25 (n)
oppossum
(Monodelphis domestica)
Mammalia NHLH1 35
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NHLH1 34 35
  • 90.73 (n)
dog
(Canis familiaris)
Mammalia NHLH1 34 35
  • 89.9 (n)
mouse
(Mus musculus)
Mammalia Nhlh1 34 16 35
  • 88.97 (n)
rat
(Rattus norvegicus)
Mammalia Nhlh1 34
  • 88.97 (n)
chicken
(Gallus gallus)
Aves NHLH1 34 35
  • 78.46 (n)
lizard
(Anolis carolinensis)
Reptilia NHLH1 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nhlh1 34
  • 68.75 (n)
zebrafish
(Danio rerio)
Actinopterygii nhlh2 35
  • 68 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta HLH4C 35
  • 45 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hlh-15 35
  • 65 (a)
OneToMany
Species where no ortholog for NHLH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NHLH1 Gene

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

Paralogs for NHLH1 Gene

Paralogs for NHLH1 Gene

(9) SIMAP similar genes for NHLH1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with NHLH1: view

Variants for NHLH1 Gene

Sequence variations from dbSNP and Humsavar for NHLH1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs10637656 -- 160,372,372(+) TTTAT(-/TTAT)AAATA utr-variant-3-prime
rs10908777 -- 160,369,481(+) agttc(C/T)atttt intron-variant
rs10908778 -- 160,371,352(+) TTTAT(C/T)GCTGA utr-variant-3-prime
rs111583504 -- 160,367,255(+) GATGA(A/G)CCTTG utr-variant-5-prime
rs111599833 -- 160,370,464(+) CTTAC(C/T)CCTCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NHLH1 Gene

Variant ID Type Subtype PubMed ID
nsv1078290 CNV deletion 25765185
nsv548056 CNV loss 21841781

Variation tolerance for NHLH1 Gene

Residual Variation Intolerance Score: 65.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.52; 11.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NHLH1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NHLH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NHLH1 Gene

Disorders for NHLH1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NHLH1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
orofacial cleft
physical disorder
  • physical illness
neuroblastoma
  • neuroblastoma 1
popliteal pterygium syndrome 1
  • popliteal pterygium syndrome
- elite association - COSMIC cancer census association via MalaCards
Search NHLH1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NHLH1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NHLH1
genes like me logo Genes that share disorders with NHLH1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NHLH1 Gene

Publications for NHLH1 Gene

  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. (PMID: 1328219) Lipkowitz S. … Kirsch I.R. (J. Biol. Chem. 1992) 3 4 22 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Regulation of neurogenesis by interactions between HEN1 and neuronal LMO proteins. (PMID: 10603358) Bao J. … Gautier J. (Development 2000) 3 22 64
  4. HEN1 and HEN2: a subgroup of basic helix-loop-helix genes that are coexpressed in a human neuroblastoma. (PMID: 1528853) Brown L. … Baer R. (Proc. Natl. Acad. Sci. U.S.A. 1992) 3 4 64
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64

Products for NHLH1 Gene

Sources for NHLH1 Gene

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