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

    Gene ID: 167410, updated on 10-Dec-2024

    Summary

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    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, Dec 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

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    See LIX1 in Genome Data Viewer
    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_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22829 Neighboring gene Sharpr-MPRA regulatory region 4368 Neighboring gene ribosomal protein S20 pseudogene 16 Neighboring gene leucyl and cystinyl aminopeptidase Neighboring gene MPRA-validated peak5362 silencer Neighboring gene Sharpr-MPRA regulatory region 9279 Neighboring gene SET pseudogene 22 Neighboring gene LIX1 and RIOK2 antisense RNA 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:96459480-96460679 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22830 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16202 Neighboring gene RNA, U1 small nuclear 73, pseudogene Neighboring gene RIO kinase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22832 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22833 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:96669582-96669797 Neighboring gene YTH domain family member 1 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Single Nucleotide Polymorphism and mRNA Expression of LTF in Oral Squamous Cell Carcinoma. Gołąbek K, et al. Genes (Basel), 2022 Nov 10. PMID 36360322, Free PMC Article
    2. Screening of the LIX1 gene in Japanese and Malaysian patients with SMA and/or SMA-like disorder. Sasongko TH, et al. Brain Dev, 2010 May. PMID 19664890
    3. LIX1 regulates YAP activity and controls gastrointestinal cancer cell plasticity. Guérin A, et al. J Cell Mol Med, 2020 Aug. PMID 32633461, Free PMC Article
    4. Candidate screening of the bovine and feline spinal muscular atrophy genes reveals no evidence for involvement in human motor neuron disorders. Parkinson NJ, et al. Neuromuscul Disord, 2008 May. PMID 18395445
    5. Cloning and expression analysis of chicken Lix1, a founding member of a novel gene family. Swindell EC, et al. Mech Dev, 2001 Dec. PMID 11731258

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. LIX1 regulates YAP activity and controls gastrointestinal cancer cell plasticity.
      Title: LIX1 regulates YAP activity and controls gastrointestinal cancer cell plasticity.
    3. 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.
    4. 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.
    Submit: New GeneRIF Correction

    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

    Homology

    Clone Names

    • FLJ25534

    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.

    mRNA and Protein(s)

    1. NM_153234.5 → NP_694966.3  protein limb expression 1 homolog

      Status: VALIDATED

      Source sequence(s)
      AC008865, AK098400, BC036467
      Consensus CDS
      CCDS4088.1
      UniProtKB/Swiss-Prot
      A8K4R9, Q8N485, Q8N7I2
      Related
      ENSP00000274382.4, ENST00000274382.9
      Conserved Domains (1) summary
      pfam14954
      Location:17 → 258
      LIX1; Limb expression 1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      97091867..97142611 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      97592630..97643374 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N485.2 GenPept UniProtKB/Swiss-Prot:Q8N485

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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