LYL1 LYL1 basic helix-loop-helix family member [Homo sapiens (human)] - Gene

Summary

Official Symbol: LYL1provided by HGNC
Official Full Name: LYL1 basic helix-loop-helix family memberprovided by HGNC
Primary source: HGNC:HGNC:6734
See related: Ensembl:ENSG00000104903 MIM:151440; AllianceGenome:HGNC:6734
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: bHLHa18
Summary: This gene represents a basic helix-loop-helix transcription factor. The encoded protein may play roles in blood vessel maturation and hematopoeisis. A translocation between this locus and the T cell receptor beta locus (GeneID 6957) on chromosome 7 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Sep 2010]
Expression: Broad expression in bone marrow (RPKM 7.8), spleen (RPKM 5.8) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.13

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (13099033..13102858, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (13224247..13228072, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (13209847..13213672, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

LYL1 facilitates AETFC assembly and gene activation by recruiting CARM1 in t(8;21) AML.
Title: LYL1 facilitates AETFC assembly and gene activation by recruiting CARM1 in t(8;21) AML.
Super-enhancer profiling identifies novel critical and targetable cancer survival gene LYL1 in pediatric acute myeloid leukemia.
Title: Super-enhancer profiling identifies novel critical and targetable cancer survival gene LYL1 in pediatric acute myeloid leukemia.
Repression of LYL1 contributes to t(8;21) leukemic cell differentiation.
Title: Destabilization of AETFC through C/EBPα-mediated repression of LYL1 contributes to t(8;21) leukemic cell differentiation.
Despite not being identified as an independent prognostic factor in UCEC, LYL1 gene amplification is associated with other poor prognostic factors and correlated with upregulation of cancer-related pathways.
Title: LYL1 gene amplification predicts poor survival of patients with uterine corpus endometrial carcinoma: analysis of the Cancer genome atlas data.
In t(8;21) leukemia cells, LYL1 functions as a component of the stable AML1-ETO-containing transcription factor complex (AETFC). The AETFC components cooperatively regulate gene expression and contribute to leukemogenesis.
Title: A stable transcription factor complex nucleated by oligomeric AML1-ETO controls leukaemogenesis.
Transcriptional regulators cooperate to establish or maintain primitive stem cell-like signatures in leukemic cells.
Title: Activity of a heptad of transcription factors is associated with stem cell programs and clinical outcome in acute myeloid leukemia.
LYL1 degradation is directed by a N-terminal PEST rich site in a phosphorylation-independent manner.
Title: LYL1 degradation by the proteasome is directed by a N-terminal PEST rich site in a phosphorylation-independent manner.
LYL1 activity is required for the maturation of newly formed blood vessels in adulthood.
Title: LYL1 activity is required for the maturation of newly formed blood vessels in adulthood.
Over-expression of LYL1 is highly associated with AML as well as ALL.
Title: [Expression of transcription factor LYL1 in leukemia and its possible role in leukemogenesis].
Multiple mechanisms which activate LYL1 in leukemic cells, including structural genomic alterations, namely microdeletion or amplification, together with the involvement of prominent oncogenic transcription factors.
Title: Multiple mechanisms induce ectopic expression of LYL1 in subsets of T-ALL cell lines.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay 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 B cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in blood vessel maturation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in definitive hemopoiesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
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 nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: protein lyl-1

Names: class A basic helix-loop-helix protein 18; lymphoblastic leukemia associated hematopoiesis regulator 1; lymphoblastic leukemia derived sequence 1

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.