This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in... See more...

Aliases for LEFTY1 Gene

Aliases for LEFTY1 Gene

  • Left-Right Determination Factor 1 2 3 4 5
  • LEFTYB 2 3 4
  • Left-Right Determination Factor B 3 4
  • Protein Lefty-1 3 4
  • Protein Lefty-B 3 4
  • LEFTB 3 4
  • Left-Right Determination, Factor B 2
  • LEFTY1 5

External Ids for LEFTY1 Gene

Previous HGNC Symbols for LEFTY1 Gene

  • LEFTB

Previous GeneCards Identifiers for LEFTY1 Gene

  • GC01M222381
  • GC01M224140
  • GC01M226073
  • GC01M196591

Summaries for LEFTY1 Gene

Entrez Gene Summary for LEFTY1 Gene

  • This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in left-right asymmetry determination of organ systems during development. This gene is closely linked to both a related family member and a related pseudogene. [provided by RefSeq, Aug 2016]

GeneCards Summary for LEFTY1 Gene

LEFTY1 (Left-Right Determination Factor 1) is a Protein Coding gene. Diseases associated with LEFTY1 include Cardiofaciocutaneous Syndrome 2 and Right Atrial Isomerism. Among its related pathways are Nanog in Mammalian ESC Pluripotency and Signaling pathways regulating pluripotency of stem cells. Gene Ontology (GO) annotations related to this gene include cytokine activity and transforming growth factor beta receptor binding. An important paralog of this gene is LEFTY2.

UniProtKB/Swiss-Prot Summary for LEFTY1 Gene

  • Required for left-right axis determination as a regulator of LEFTY2 and NODAL.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LEFTY1 Gene

Genomics for LEFTY1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LEFTY1 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 LEFTY1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LEFTY1

Top Transcription factor binding sites by QIAGEN in the LEFTY1 gene promoter:
  • GATA-6
  • GCNF
  • Lmo2
  • NF-kappaB
  • NF-kappaB1
  • Pax-4a
  • PPAR-alpha
  • RelA
  • Roaz

Genomic Locations for LEFTY1 Gene

Latest Assembly
chr1:225,886,282-225,911,382
(GRCh38/hg38)
Size:
25,101 bases
Orientation:
Minus strand

Previous Assembly
chr1:226,073,982-226,076,846
(GRCh37/hg19 by Entrez Gene)
Size:
2,865 bases
Orientation:
Minus strand

chr1:226,073,982-226,099,082
(GRCh37/hg19 by Ensembl)
Size:
25,101 bases
Orientation:
Minus strand

Genomic View for LEFTY1 Gene

Genes around LEFTY1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LEFTY1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LEFTY1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LEFTY1 Gene

Proteins for LEFTY1 Gene

  • Protein details for LEFTY1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75610-LFTY1_HUMAN
    Recommended name:
    Left-right determination factor 1
    Protein Accession:
    O75610
    Secondary Accessions:
    • B2R7U0
    • Q53H67
    • Q5TE94

    Protein attributes for LEFTY1 Gene

    Size:
    366 amino acids
    Molecular mass:
    40880 Da
    Quaternary structure:
    No Data Available

neXtProt entry for LEFTY1 Gene

Post-translational modifications for LEFTY1 Gene

  • The processing of the protein may also occur at the second R-X-X-R site located at AA 132-135. Processing appears to be regulated in a cell-type specific manner.
  • Glycosylation at Asn158
  • Modification sites at PhosphoSitePlus

Other Protein References for LEFTY1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for LEFTY1

No data available for DME Specific Peptides for LEFTY1 Gene

Domains & Families for LEFTY1 Gene

Gene Families for LEFTY1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for LEFTY1 Gene

InterPro:
Blocks:
  • Transforming growth factor beta (TGFb), N-terminal
  • Transforming growth factor beta (TGFb)
  • Transforming growth factor beta 4 precursor signature

Suggested Antigen Peptide Sequences for LEFTY1 Gene

GenScript: Design optimal peptide antigens:
  • Protein lefty-B (LFTY1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75610

UniProtKB/Swiss-Prot:

LFTY1_HUMAN :
  • Belongs to the TGF-beta family.
Family:
  • Belongs to the TGF-beta family.
genes like me logo Genes that share domains with LEFTY1: view

Function for LEFTY1 Gene

Molecular function for LEFTY1 Gene

UniProtKB/Swiss-Prot Function:
Required for left-right axis determination as a regulator of LEFTY2 and NODAL.

LifeMap Function Summary for LEFTY1 Gene

During embryonic development, LEFTY1 as signaling molecule is secreted from the following cells
It affects the following cells:

Phenotypes From GWAS Catalog for LEFTY1 Gene

Gene Ontology (GO) - Molecular Function for LEFTY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IBA 21873635
GO:0005160 transforming growth factor beta receptor binding IEA --
GO:0008083 growth factor activity IEA --
genes like me logo Genes that share ontologies with LEFTY1: view
genes like me logo Genes that share phenotypes with LEFTY1: view

Animal Models for LEFTY1 Gene

MGI Knock Outs for LEFTY1:

miRNA for LEFTY1 Gene

miRTarBase miRNAs that target LEFTY1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LEFTY1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LEFTY1 Gene

Localization for LEFTY1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LEFTY1 Gene

Secreted.

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 LEFTY1 gene
Compartment Confidence
extracellular 5
cytoskeleton 2
nucleus 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for LEFTY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA 21873635
genes like me logo Genes that share ontologies with LEFTY1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LEFTY1 Gene

Pathways & Interactions for LEFTY1 Gene

PathCards logo

SuperPathways for LEFTY1 Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.64
.62
.61
.60
.57
.57
2 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
3 ERK Signaling
.61
.61
.58
.51
.49
4 Nanog in Mammalian ESC Pluripotency
.61
.61
.59
.48
5 CREB Pathway
.68
.68
.63
.50
genes like me logo Genes that share pathways with LEFTY1: view

Pathways by source for LEFTY1 Gene

1 GeneGo (Thomson Reuters) pathway for LEFTY1 Gene
  • Development Role of Activin A in cell differentiation and proliferation
56 Qiagen pathways for LEFTY1 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR
1 Cell Signaling Technology pathway for LEFTY1 Gene
1 GeneTex pathway for LEFTY1 Gene

SIGNOR curated interactions for LEFTY1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for LEFTY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II ISS --
GO:0003007 heart morphogenesis ISS --
GO:0007179 transforming growth factor beta receptor signaling pathway TAS 10053005
GO:0007275 multicellular organism development IEA --
GO:0007368 determination of left/right symmetry ISS --
genes like me logo Genes that share ontologies with LEFTY1: view

Drugs & Compounds for LEFTY1 Gene

No Compound Related Data Available

Transcripts for LEFTY1 Gene

mRNA/cDNA for LEFTY1 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LEFTY1

Alternative Splicing Database (ASD) splice patterns (SP) for LEFTY1 Gene

No ASD Table

Relevant External Links for LEFTY1 Gene

GeneLoc Exon Structure for
LEFTY1

Expression for LEFTY1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LEFTY1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LEFTY1 Gene

This gene is overexpressed in Colon - Transverse (x28.9) and Pancreas (x14.6).

Protein differential expression in normal tissues from HIPED for LEFTY1 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LEFTY1 Gene



Protein tissue co-expression partners for LEFTY1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LEFTY1

SOURCE GeneReport for Unigene cluster for LEFTY1 Gene:

Hs.656214

Evidence on tissue expression from TISSUES for LEFTY1 Gene

  • Intestine(4.5)
  • Pancreas(4.4)
  • Spleen(4.3)
  • Heart(2.4)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with LEFTY1: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for LEFTY1 Gene

Orthologs for LEFTY1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LEFTY1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LEFTY1 29
  • 99.36 (n)
Mouse
(Mus musculus)
Mammalia Lefty1 29 16 30
  • 83.38 (n)
ManyToMany
Lefty2 30
  • 82 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia -- 30
  • 83 (a)
ManyToMany
-- 30
  • 81 (a)
ManyToMany
Rat
(Rattus norvegicus)
Mammalia Lefty1 29
  • 82.15 (n)
Dog
(Canis familiaris)
Mammalia -- 30
  • 79 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 53 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 41 (a)
OneToMany
Chicken
(Gallus gallus)
Aves LEFTY2 30
  • 38 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 42 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii lft1 30
  • 36 (a)
ManyToMany
lft2 30
  • 36 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2199 30
  • 28 (a)
OneToMany
Species where no ortholog for LEFTY1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • 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)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for LEFTY1 Gene

ENSEMBL:
Gene Tree for LEFTY1 (if available)
TreeFam:
Gene Tree for LEFTY1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LEFTY1: view image
Alliance of Genome Resources:
Additional Orthologs for LEFTY1

Paralogs for LEFTY1 Gene

(1) SIMAP similar genes for LEFTY1 Gene using alignment to 1 proteins:

  • LFTY1_HUMAN
genes like me logo Genes that share paralogs with LEFTY1: view

Variants for LEFTY1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LEFTY1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs143474754 Likely Benign: not provided 225,886,889(-) A/C
NM_020997.4(LEFTY1):c.939T>G (p.Pro313=)
SYNONYMOUS
rs1448322096 Likely Benign: not provided 225,886,880(-) G/A
NM_020997.4(LEFTY1):c.948C>T (p.Cys316=)
SYNONYMOUS
rs145431393 Benign: not provided 225,888,008(-) A/Gp.Leu92Ser
NM_020997.4(LEFTY1):c.275T>C (p.Leu92Ser)
MISSENSE
rs146485828 Benign: not provided 225,886,993(-) C/T
NM_020997.4(LEFTY1):c.835G>A (p.Glu279Lys)
MISSENSE
rs146733248 Likely Benign: not provided 225,886,901(-) C/T
NM_020997.4(LEFTY1):c.927G>A (p.Pro309=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LEFTY1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for LEFTY1 Gene

Variant ID Type Subtype PubMed ID
esv2762223 CNV gain 21179565
esv3578457 CNV loss 25503493
nsv520628 CNV loss 19592680
nsv524126 CNV gain 19592680

Variation tolerance for LEFTY1 Gene

Residual Variation Intolerance Score: 93.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.13; 90.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LEFTY1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LEFTY1
Leiden Open Variation Database (LOVD)
LEFTY1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LEFTY1 Gene

Disorders for LEFTY1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for LEFTY1 Gene - From: COP

Disorder Aliases PubMed IDs
cardiofaciocutaneous syndrome 2
  • cfc2
right atrial isomerism
  • rai
visceral heterotaxy
  • heterotaxia
kartagener syndrome
  • kartagener's syndrome
primary ciliary dyskinesia
  • ciliary motility disorder
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for LEFTY1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with LEFTY1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LEFTY1 Gene

Publications for LEFTY1 Gene

  1. Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development. (PMID: 10053005) Kosaki K … Casey B (American journal of human genetics 1999) 2 3 4
  2. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 40
  3. 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 40
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 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 LEFTY1 Gene

Sources for LEFTY1 Gene