LIX1 limb and CNS expressed 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LIX1provided by HGNC
Official Full Name: limb and CNS expressed 1provided by HGNC
Primary source: HGNC:HGNC:18581
See related: Ensembl:ENSG00000145721 MIM:610466; AllianceGenome:HGNC:18581
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Lft; C5orf11
Summary: Predicted to be involved in autophagosome maturation. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in brain (RPKM 14.2), thyroid (RPKM 2.1) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 5q15

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (97091867..97142611, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (97592630..97643374, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (96427571..96478315, complement)

Chromosome 5 - NC_000005.10 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
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?

Single Nucleotide Polymorphism and mRNA Expression of LTF in Oral Squamous Cell Carcinoma.
Title: Single Nucleotide Polymorphism and mRNA Expression of LTF in Oral Squamous Cell Carcinoma.
LIX1 regulates YAP activity and controls gastrointestinal cancer cell plasticity.
Title: LIX1 regulates YAP activity and controls gastrointestinal cancer cell plasticity.
Observational study of gene-disease association. (HuGE Navigator)
Title: Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.
Data show that mutations in LIX1 do not contribute significantly to the cause of motor neuron diseases in the human population.
Title: Candidate screening of the bovine and feline spinal muscular atrophy genes reveals no evidence for involvement in human motor neuron disorders.

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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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Markers

D5S1934 (e-PCR)
- UniSTS:154119

RH91721 (e-PCR)
- UniSTS:88134

RH118608 (e-PCR)
- UniSTS:138098

LIX1 (e-PCR)
- UniSTS:497540

D5S2426 (e-PCR)
- UniSTS:11655

HSCZSH042 (e-PCR)
- UniSTS:18380

D5S2466 (e-PCR)
- UniSTS:68596

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in autophagosome maturation	IBA Inferred from Biological aspect of Ancestor more info

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

General protein information

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Preferred Names: protein limb expression 1 homolog

Names: Lix1 homolog; Lowfat homolog; limb expression 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.