U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    NHLH1 nescient helix-loop-helix 1 [ Homo sapiens (human) ]

    Gene ID: 4807, updated on 5-Mar-2024

    Summary

    Official Symbol
    NHLH1provided by HGNC
    Official Full Name
    nescient helix-loop-helix 1provided by HGNC
    Primary source
    HGNC:HGNC:7817
    See related
    Ensembl:ENSG00000171786 MIM:162360; AllianceGenome:HGNC:7817
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HEN1; NSCL; NSCL1; bHLHa35
    Summary
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NHLH1 in Genome Data Viewer
    Location:
    1q23.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (160367071..160372846)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (159504143..159509918)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (160336861..160342636)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene COPI coat complex subunit alpha Neighboring gene SUMO1 pseudogene 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:160312973-160313920 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1920 Neighboring gene nicastrin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1921 Neighboring gene uncharacterized LOC105371466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1922 Neighboring gene RNA, U4 small nuclear 42, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:160379091-160379966 Neighboring gene Sharpr-MPRA regulatory region 8449 Neighboring gene VANGL planar cell polarity protein 2

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    helix-loop-helix protein 1
    Names
    HEN-1
    NSCL-1
    class A basic helix-loop-helix protein 35

    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.

    mRNA and Protein(s)

    1. NM_005598.4NP_005589.1  helix-loop-helix protein 1

      See identical proteins and their annotated locations for NP_005589.1

      Status: VALIDATED

      Source sequence(s)
      AL445230, DA612092, M96739
      Consensus CDS
      CCDS1204.1
      UniProtKB/Swiss-Prot
      Q02575
      UniProtKB/TrEMBL
      Q5T203
      Related
      ENSP00000302189.5, ENST00000302101.6
      Conserved Domains (1) summary
      cd19701
      Location:61132
      bHLH_TS_HEN1; basic helix-loop-helix (bHLH) domain found in helix-loop-helix protein 1 (HEN-1) and similar proteins

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      160367071..160372846
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      159504143..159509918
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)