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

Summary

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, Dec 2024]
Expression: Broad expression in skin (RPKM 18.4), pancreas (RPKM 11.3) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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].
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.
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

MYCL1_8487 (e-PCR)
- UniSTS:467783

SHGC-74641 (e-PCR)
- UniSTS:46159

GDB:177902 (e-PCR)
- UniSTS:154977

D1S3435 (e-PCR)
- UniSTS:32138

AL009281 (e-PCR)
- UniSTS:81041

RH68964 (e-PCR)
- UniSTS:92638

GDB:593194 (e-PCR)
- UniSTS:157941

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)

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
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
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