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

Gene ID: 4066, updated on 17-Jun-2019

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
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

Genomic context

See LYL1 in Genome Data Viewer
Location:
19p13.13
Exon count:
5
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (13097166..13103751, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (13208002..13213974, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene nuclear factor I X Neighboring gene uncharacterized LOC107985286 Neighboring gene VISTA enhancer hs1900 Neighboring gene uncharacterized LOC105372282 Neighboring gene Sharpr-MPRA regulatory region 14065 Neighboring gene tRNA methyltransferase 1 Neighboring gene nucleus accumbens associated 1

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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
B cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
blood vessel maturation IMP
Inferred from Mutant Phenotype
more info
PubMed 
definitive hemopoiesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription, DNA-templated 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 
regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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)

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.

Genomic

  1. NG_027756.2 RefSeqGene

    Range
    5001..9133
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005583.5NP_005574.2  protein lyl-1

    See identical proteins and their annotated locations for NP_005574.2

    Status: REVIEWED

    Source sequence(s)
    AI554151, BC002796
    Consensus CDS
    CCDS12292.1
    UniProtKB/Swiss-Prot
    P12980
    Related
    ENSP00000264824.3, ENST00000264824.4
    Conserved Domains (1) summary
    smart00353
    Location:156208
    HLH; helix loop helix domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    13097166..13103751 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005259912.4XP_005259969.1  protein lyl-1 isoform X2

    Conserved Domains (1) summary
    smart00353
    Location:82134
    HLH; helix loop helix domain
  2. XM_024451516.1XP_024307284.1  protein lyl-1 isoform X1

    Conserved Domains (1) summary
    smart00353
    Location:227279
    HLH; helix loop helix domain
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