LEFTY1 left-right determination factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LEFTY1provided by HGNC
Official Full Name: left-right determination factor 1provided by HGNC
Primary source: HGNC:HGNC:6552
See related: Ensembl:ENSG00000243709 MIM:603037; AllianceGenome:HGNC:6552
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: LEFTB; LEFTYB
Summary: 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]
Expression: Biased expression in colon (RPKM 67.2), pancreas (RPKM 11.8) and 2 other tissues See more
Orthologs: all
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Genomic context

Location:: 1q42.12

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (225886282..225889146, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (225074031..225076895, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (226073982..226076846, complement)

Chromosome 1 - NC_000001.11 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?

Association of maternal hypertension and diabetes with variants of the NKX2-5, LEFTY1 and LEFTY2 genes in children with congenital heart defects: a case-control study from Pakistani Population.
Title: Association of maternal hypertension and diabetes with variants of the NKX2-5, LEFTY1 and LEFTY2 genes in children with congenital heart defects: a case-control study from Pakistani Population.
Expression of Cytokine-Coding Genes BMP8B, LEFTY1 and INSL5 Could Distinguish between Ulcerative Colitis and Crohn's Disease.
Title: Expression of Cytokine-Coding Genes BMP8B, LEFTY1 and INSL5 Could Distinguish between Ulcerative Colitis and Crohn's Disease.
Expression of Lefty predicts Merkel cell carcinoma-specific death.
Title: Expression of Lefty predicts Merkel cell carcinoma-specific death.
Requirements of LEFTY and Nodal overexpression for tumor cell survival under hypoxia in glioblastoma.
Title: Requirements of LEFTY and Nodal overexpression for tumor cell survival under hypoxia in glioblastoma.
functional role of LEFTY during progesterone therapy for endometrial carcinoma
Title: A functional role of LEFTY during progesterone therapy for endometrial carcinoma.
Studied genes involved in TGF-beta/BMP signaling pathway including chorionic villi LEFTY1 expression levels in association with miscarriage.
Title: Low Expression of LEFTY1 in Placental Villi Is Associated with Early Unexplained Miscarriage.
Lefty1 could regulates the cell cycle via modulating the expressions of P57 and cyclin D1 and then inhibit the decidualization in vitro.
Title: Lefty inhibits in vitro decidualization by regulating P57 and cyclin D1 expressions.
The mRNA levels of LSD1 and beta-catenin are inversely correlated with the levels of Lefty1 in pancreas and breast tumors.
Title: Wnt3a-dependent and -independent protein interaction networks of chromatin-bound β-catenin in mouse embryonic stem cells.
Reprogrammed cancer cells share the mechanism for expression of Lefty with induced pluripotent cancer cells (iPS), thus contributing to the cancerous transformation of iPS cells.
Title: Suppression of Lefty expression in induced pluripotent cancer cells.
Data suggest that Lefty is a novel TGF-beta target molecule that mediates growth inhibition of pancreatic cancer cells.
Title: Transforming growth factor β and Ras/MEK/ERK signaling regulate the expression level of a novel tumor suppressor Lefty.

Submit: New GeneRIF Correction See all GeneRIFs (17)

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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of left-right determination factor 1 (LEFTY1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

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 cytokine activity	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor activity	IEA Inferred from Electronic Annotation more info
enables transforming growth factor beta receptor binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in anterior/posterior axis specification	IBA Inferred from Biological aspect of Ancestor more info
involved_in determination of left/right symmetry	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in transforming growth factor beta receptor signaling pathway	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: left-right determination factor 1

Names: left-right determination factor B; protein lefty-1; protein lefty-B

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_020997.4 → NP_066277.1 left-right determination factor 1 preproprotein

See identical proteins and their annotated locations for NP_066277.1

Status: REVIEWED

Source sequence(s)

AF081512, AK222714

Consensus CDS

CCDS1548.1

UniProtKB/Swiss-Prot

B2R7U0, O75610, Q53H67, Q5TE94

Related

ENSP00000272134.5, ENST00000272134.5

Conserved Domains (2) summary

pfam00019
Location:263 → 353

TGF_beta; Transforming growth factor beta like domain

pfam00688
Location:106 → 214

TGFb_propeptide; TGF-beta propeptide