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MYCL MYCL proto-oncogene, bHLH transcription factor [ Homo sapiens (human) ]

Gene ID: 4610, updated on 27-Nov-2024

Summary

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Official Symbol
MYCLprovided by HGNC
Official Full Name
MYCL proto-oncogene, bHLH transcription factorprovided by HGNC
Primary source
HGNC:HGNC:7555
See related
Ensembl:ENSG00000116990 MIM:164850; AllianceGenome:HGNC:7555
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
LMYC; L-Myc; MYCL1; bHLHe38
Summary
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within regulation of inner ear auditory receptor cell differentiation. Located in chromosome and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in skin (RPKM 18.4), pancreas (RPKM 11.3) and 17 other tissues See more
Orthologs
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Genomic context

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See MYCL in Genome Data Viewer
Location:
1p34.2
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (39895428..39901917, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (39764868..39771357, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (40361100..40367589, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378667 Neighboring gene MPRA-validated peak189 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 821 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 822 Neighboring gene tRNA isopentenyltransferase 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:40348408-40349228 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:40349229-40350047 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:40353876-40354074 Neighboring gene MYCL antisense RNA 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:40363871-40364442 Neighboring gene Sharpr-MPRA regulatory region 6057 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 714 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 715 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:40409912-40410434 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 717 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 823 Neighboring gene MFSD2 lysolipid transporter A, lysophospholipid Neighboring gene ribosomal protein S2 pseudogene 12 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:40446045-40446898 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 718 Neighboring gene uncharacterized LOC105378669 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 719 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 824 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:40505419-40506052 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:40506053-40506687 Neighboring gene cyclase associated actin cytoskeleton regulatory protein 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Different susceptibility of each L-myc genotype to esophageal cancer risk factors. Kumimoto H, et al. Jpn J Cancer Res, 2001 Jul. PMID 11473723, Free PMC Article
  2. EcoRI polymorphism of the L-myc gene in gastric cancer patients. Dlugosz A, et al. Eur J Gastroenterol Hepatol, 2002 Nov. PMID 12439118
  3. Is there any correlation between restriction fragment length polymorphism of the L-MYC gene and metastasis of human nonsmall cell lung cancer? Yaylim I, et al. Cancer Genet Cytogenet, 2002 Apr 15. PMID 12034523
  4. Close correlation between restriction fragment length polymorphism of L-myc gene and susceptibility to gastric cancer. Isbir T, et al. Cancer Detect Prev, 2002. PMID 12507230
  5. Amplification and overexpression of the L-MYC proto-oncogene in ovarian carcinomas. Wu R, et al. Am J Pathol, 2003 May. PMID 12707044, Free PMC Article

See all (51) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Comparative study on the mutation spectrum of L-MYC and C-MYC genes of blood cfDNA in patients with ovarian cancer and healthy females.
    Title: Comparative study on the mutation spectrum of L-MYC and C-MYC genes of blood cfDNA in patients with ovarian cancer and healthy females.
  2. MYCL promotes the progression of triplenegative breast cancer by activating the JAK/STAT3 pathway.
    Title: MYCL promotes the progression of triple‑negative breast cancer by activating the JAK/STAT3 pathway.
  3. MYCL promotes iPSC-like colony formation via MYC Box 0 and 2 domains.
    Title: MYCL promotes iPSC-like colony formation via MYC Box 0 and 2 domains.
  4. MYCL1 Amplification and Expression of L-Myc and c-Myc in Surgically Resected Small-Cell Lung Carcinoma.
    Title: MYCL1 Amplification and Expression of L-Myc and c-Myc in Surgically Resected Small-Cell Lung Carcinoma.
  5. display of the influence of MYCL1 gene on invasion and migration phenotype of gastric cancer cells and a possible explanation from the aspect of structural alteration; results suggested that downregulation of MYCL1 may be a potential therapeutic strategy for gastric cancer
    Title: Targeted silencing of MYCL1 by RNA interference inhibits migration and invasion of MGC-803 gastric cancer cells.
  6. These results suggest that Mycl1 expression might be useful as a biomarker to predict prognosis and is a promising therapeutic target for patients with gastric cancer.
    Title: Expression and prognostic value of Mycl1 in gastric cancer.
  7. Several tagging SNPs and haplotypes in TRIT1, MYCL1 and MFSD2A region are significantly associated with risk and clinicopathological features of gastric cancer in a Chinese population.
    Title: Association of polymorphisms and haplotype in the region of TRIT1, MYCL1 and MFSD2A with the risk and clinicopathological features of gastric cancer in a southeast Chinese population.
  8. The polymorphism of H-ras and L-myc genes is not related to colorectal cancer risk, but there is a synergy between H-ras and L-myc polymorphisms in the development of rectal cancer.
    Title: [Association between H-ras and L-myc gene polymorphisms and susceptibility to colorectal cancer].
  9. MYCL1 is the target of hsa-miR-1827. A rs3134615 G>T SNP in the 3'-UTR altered regulation of MYCL1 expression. This SNP was associated with increased susceptibility to SCLC, possibly resulting from attenuated interaction with the miRNA hsa-miR-1827.
    Title: Genetic variation in an miRNA-1827 binding site in MYCL1 alters susceptibility to small-cell lung cancer.
  10. The results demonstrate that MYCL1 rs3134613 is associated with susceptibility to diffuse-type gastric cancer and with differentiation of gastric cancer.
    Title: Association of a MYCL1 single nucleotide polymorphism, rs3134613, with susceptibility to diffuse-type gastric cancer and with differentiation of gastric cancer in a southeast Chinese population.
Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding NAS
Non-traceable Author Statement
more info
 PubMed 
enables DNA binding TAS
Traceable Author Statement
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein dimerization activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in regulation of inner ear auditory receptor cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in chromosome IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
protein L-Myc
Names
class E basic helix-loop-helix protein 38
l-myc-1 proto-oncogene
myc-related gene from lung cancer
protein L-Myc-1
v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog
v-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived

NCBI Reference Sequences (RefSeq)

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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_001033081.3 → NP_001028253.1  protein L-Myc isoform 1

    See identical proteins and their annotated locations for NP_001028253.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
    Source sequence(s)
    AI144219, AL033527
    Consensus CDS
    CCDS30682.1
    UniProtKB/Swiss-Prot
    A2A2C9, B4DJH2, P12524, Q14897, Q5QPL0, Q5QPL1, Q9NUE9
    Related
    ENSP00000361903.2, ENST00000372816.3
    Conserved Domains (2) summary
    cd00083
    Location:279 → 333
    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, ...
    pfam01056
    Location:2 → 228
    Myc_N; Myc amino-terminal region

  2. NM_001033082.3 → NP_001028254.2  protein L-Myc isoform 3

    See identical proteins and their annotated locations for NP_001028254.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate segment in the 5' region and uses an alternate, upstream start codon, compared to variant 1. It encodes isoform 3, which is longer than isoform 1.
    Source sequence(s)
    AI144219, AK296078, AL033527
    Consensus CDS
    CCDS53300.1
    UniProtKB/Swiss-Prot
    P12524
    Related
    ENSP00000380494.2, ENST00000397332.3
    Conserved Domains (2) summary
    cd00083
    Location:309 → 363
    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, ...
    pfam01056
    Location:26 → 258
    Myc_N; Myc amino-terminal region

  3. NM_005376.5 → NP_005367.2  protein L-Myc isoform 2

    See identical proteins and their annotated locations for NP_005367.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has multiple differences compared to variant 1. The resulting isoform (2) has distinct N- and C-termini and is shorter than isoform 1.
    Source sequence(s)
    AL033527, BC011864, BX101968
    Consensus CDS
    CCDS44117.2
    UniProtKB/Swiss-Prot
    P12524
    Related
    ENSP00000361902.1, ENST00000372815.1
    Conserved Domains (1) summary
    pfam01056
    Location:26 → 234
    Myc_N; Myc amino-terminal region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    39895428..39901917 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    39764868..39771357 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P12524.2 GenPept UniProtKB/Swiss-Prot:P12524

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