The LUC7L gene may represent a mammalian heterochromatic gene, encoding a putative RNA-binding protein similar to the yeast Luc7p subunit of the U1 snRNP splicing complex that is normally required for 5-prime splice site selection (Tufarelli et al., 2001 [PubMed 11170747]).[supplied by OMIM, Mar 2008] See more...

Aliases for LUC7L Gene

Aliases for LUC7L Gene

  • LUC7 Like 2 3 5
  • Putative RNA-Binding Protein Luc7-Like 1 3 4
  • Putative SR Protein LUC7B1 3 4
  • HLuc7B1 2 3
  • LUC7B1 2 3
  • SR+89 3 4
  • Luc7 2 3
  • Sarcoplasmic Reticulum Protein LUC7B1 3
  • LUC7 (S. Cerevisiae)-Like 2
  • LUC7-Like (S. Cerevisiae) 2
  • LUC7-Like 2
  • LUC7L1 4
  • LUC7L 5

External Ids for LUC7L Gene

Previous GeneCards Identifiers for LUC7L Gene

  • GC16M000258
  • GC16M000178
  • GC16M000238

Summaries for LUC7L Gene

Entrez Gene Summary for LUC7L Gene

  • The LUC7L gene may represent a mammalian heterochromatic gene, encoding a putative RNA-binding protein similar to the yeast Luc7p subunit of the U1 snRNP splicing complex that is normally required for 5-prime splice site selection (Tufarelli et al., 2001 [PubMed 11170747]).[supplied by OMIM, Mar 2008]

GeneCards Summary for LUC7L Gene

LUC7L (LUC7 Like) is a Protein Coding gene. Diseases associated with LUC7L include Alpha-Thalassemia. Gene Ontology (GO) annotations related to this gene include identical protein binding and RS domain binding. An important paralog of this gene is LUC7L2.

UniProtKB/Swiss-Prot Summary for LUC7L Gene

Gene Wiki entry for LUC7L Gene

Additional gene information for LUC7L Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LUC7L Gene

Genomics for LUC7L Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LUC7L Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LUC7L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LUC7L

Top Transcription factor binding sites by QIAGEN in the LUC7L gene promoter:
  • aMEF-2
  • AML1a
  • COMP1
  • CUTL1
  • Lmo2
  • MEF-2A
  • RSRFC4
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for LUC7L Gene

Genomic Locations for LUC7L Gene
chr16:188,969-229,482
(GRCh38/hg38)
Size:
40,514 bases
Orientation:
Minus strand
chr16:238,968-279,462
(GRCh37/hg19)
Size:
40,495 bases
Orientation:
Minus strand

Genomic View for LUC7L Gene

Genes around LUC7L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LUC7L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LUC7L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LUC7L Gene

Proteins for LUC7L Gene

  • Protein details for LUC7L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQ29-LUC7L_HUMAN
    Recommended name:
    Putative RNA-binding protein Luc7-like 1
    Protein Accession:
    Q9NQ29
    Secondary Accessions:
    • B8ZZ13
    • Q96S32
    • Q9NPH4

    Protein attributes for LUC7L Gene

    Size:
    371 amino acids
    Molecular mass:
    43728 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform 2]: May be due to an intron retention.

    Alternative splice isoforms for LUC7L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LUC7L Gene

Post-translational modifications for LUC7L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for LUC7L Gene

Domains & Families for LUC7L Gene

Gene Families for LUC7L Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for LUC7L Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LUC7L Gene

GenScript: Design optimal peptide antigens:
  • LUC7-like (S. cerevisiae) (B8ZZ08_HUMAN)
  • LUC7-like (S. cerevisiae), isoform CRA_a (D3DU41_HUMAN)
  • SR+89 (LUC7L_HUMAN)
  • Putative RNA-binding protein Luc7-like 1 (Q1W6G4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NQ29

UniProtKB/Swiss-Prot:

LUC7L_HUMAN :
  • Belongs to the Luc7 family.
Family:
  • Belongs to the Luc7 family.
genes like me logo Genes that share domains with LUC7L: view

Function for LUC7L Gene

Molecular function for LUC7L Gene

UniProtKB/Swiss-Prot Function:
May bind to RNA via its Arg/Ser-rich domain.

Phenotypes From GWAS Catalog for LUC7L Gene

Gene Ontology (GO) - Molecular Function for LUC7L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003729 mRNA binding IEA,IBA 21873635
GO:0005515 protein binding IPI 22365833
GO:0042802 identical protein binding IPI 22365833
GO:0050733 RS domain binding IEA --
genes like me logo Genes that share ontologies with LUC7L: view
genes like me logo Genes that share phenotypes with LUC7L: view

Animal Model Products

  • Taconic Biosciences Mouse Models for LUC7L

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LUC7L

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LUC7L Gene

Localization for LUC7L Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LUC7L gene
Compartment Confidence
nucleus 4
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LUC7L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005685 U1 snRNP IEA,IBA 21873635
GO:0071004 U2-type prespliceosome IBA 21873635
genes like me logo Genes that share ontologies with LUC7L: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for LUC7L Gene

Pathways & Interactions for LUC7L Gene

PathCards logo

SuperPathways for LUC7L Gene

No Data Available

Gene Ontology (GO) - Biological Process for LUC7L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006376 mRNA splice site selection IEA,IBA 21873635
GO:0045843 negative regulation of striated muscle tissue development IEA --
genes like me logo Genes that share ontologies with LUC7L: view

No data available for Pathways by source and SIGNOR curated interactions for LUC7L Gene

Drugs & Compounds for LUC7L Gene

No Compound Related Data Available

Transcripts for LUC7L Gene

mRNA/cDNA for LUC7L Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LUC7L

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LUC7L Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - - - -
SP2:
SP3:
SP4: - - - - - - -
SP5:
SP6: -
SP7:

Relevant External Links for LUC7L Gene

GeneLoc Exon Structure for
LUC7L

Expression for LUC7L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LUC7L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LUC7L Gene

This gene is overexpressed in Lung (31.7) and Fetal Brain (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LUC7L Gene



Protein tissue co-expression partners for LUC7L Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LUC7L

SOURCE GeneReport for Unigene cluster for LUC7L Gene:

Hs.16803

mRNA Expression by UniProt/SwissProt for LUC7L Gene:

Q9NQ29-LUC7L_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for LUC7L Gene

  • Nervous system(4.4)
  • Blood(4.4)
  • Lung(4.3)
  • Skin(2.4)
genes like me logo Genes that share expression patterns with LUC7L: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for LUC7L Gene

Orthologs for LUC7L Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for LUC7L Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LUC7L 30 31
  • 99.73 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LUC7L 30 31
  • 93.26 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LUC7L 30 31
  • 93.11 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia LUC7L 31
  • 92 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Luc7l 30 17 31
  • 91.9 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Luc7l 30
  • 90.69 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia LUC7L 31
  • 86 (a)
OneToOne
Chicken
(Gallus gallus)
Aves gga-mir-1564 31
  • 92 (a)
OneToOne
LUC7L 30
  • 85.26 (n)
Lizard
(Anolis carolinensis)
Reptilia LUC7L 31
  • 90 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia luc7l 30
  • 79.06 (n)
Zebrafish
(Danio rerio)
Actinopterygii luc7l 30 31
  • 76.58 (n)
OneToOne
wufb51e07 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG7564 31 32
  • 47 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea B0495.8 31
  • 35 (a)
OneToMany
B0495.8a 32
  • 34 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LUC7 30 31 33
  • 45.32 (n)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADR271W 30
  • 43.38 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 56 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU05645 30
  • 47.11 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes usp106 30
  • 44.77 (n)
Species where no ortholog for LUC7L was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for LUC7L Gene

ENSEMBL:
Gene Tree for LUC7L (if available)
TreeFam:
Gene Tree for LUC7L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LUC7L: view image

Paralogs for LUC7L Gene

Paralogs for LUC7L Gene

(5) SIMAP similar genes for LUC7L Gene using alignment to 11 proteins:

  • LUC7L_HUMAN
  • A8MYV2_HUMAN
  • B8ZZ08_HUMAN
  • B8ZZ09_HUMAN
  • B8ZZ10_HUMAN
  • B8ZZ12_HUMAN
  • D3DU41_HUMAN
  • F2Z322_HUMAN
  • F8WBC1_HUMAN
  • H7C2U4_HUMAN
  • Q1W6G4_HUMAN
genes like me logo Genes that share paralogs with LUC7L: view

Variants for LUC7L Gene

Additional dbSNP identifiers (rs#s) for LUC7L Gene

Structural Variations from Database of Genomic Variants (DGV) for LUC7L Gene

Variant ID Type Subtype PubMed ID
dgv2690n100 CNV gain 25217958
esv2422427 CNV duplication 17116639
esv2665628 CNV deletion 23128226
esv2670048 CNV deletion 23128226
esv2673364 CNV deletion 23128226
esv3637552 CNV loss 21293372
esv3637553 CNV loss 21293372
esv3637554 CNV loss 21293372
esv3637555 CNV loss 21293372
esv3637556 CNV loss 21293372
esv3637557 CNV loss 21293372
nsv1044142 CNV gain 25217958
nsv1698 CNV deletion 18451855
nsv474922 CNV novel sequence insertion 20440878
nsv518291 CNV loss 19592680

Variation tolerance for LUC7L Gene

Residual Variation Intolerance Score: 59.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.33; 26.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LUC7L Gene

Human Gene Mutation Database (HGMD)
LUC7L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LUC7L

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LUC7L Gene

Disorders for LUC7L Gene

MalaCards: The human disease database

(1) MalaCards diseases for LUC7L Gene - From: DISEASES

Disorder Aliases PubMed IDs
alpha-thalassemia
  • thalassemia, alpha-
- elite association - COSMIC cancer census association via MalaCards
Search LUC7L in MalaCards View complete list of genes associated with diseases

Additional Disease Information for LUC7L

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with LUC7L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LUC7L Gene

Publications for LUC7L Gene

  1. Characterization of a widely expressed gene (LUC7-LIKE; LUC7L) defining the centromeric boundary of the human alpha-globin domain. (PMID: 11170747) Tufarelli C … Higgs DR (Genomics 2001) 3 4 23
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for LUC7L Gene

  • Signalway Proteins for LUC7L

Sources for LUC7L Gene