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

Gene ID: 4807, updated on 13-Mar-2020

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
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

Genomic context

See NHLH1 in Genome Data Viewer
Location:
1q23.2
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (160367071..160372846)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (160336861..160342638)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene COPI coat complex subunit alpha Neighboring gene SUMO1 pseudogene 3 Neighboring gene nicastrin Neighboring gene uncharacterized LOC105371466 Neighboring gene RNA, U4 small nuclear 42, pseudogene 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

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
central nervous system development TAS
Traceable Author Statement
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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
    cd00083
    Location:75131
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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