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    LTV1 LTV1 ribosome biogenesis factor [ Homo sapiens (human) ]

    Gene ID: 84946, updated on 10-Dec-2024

    Summary

    Official Symbol
    LTV1provided by HGNC
    Official Full Name
    LTV1 ribosome biogenesis factorprovided by HGNC
    Primary source
    HGNC:HGNC:21173
    See related
    Ensembl:ENSG00000135521 MIM:620074; AllianceGenome:HGNC:21173
    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
    IPHAK; C6orf93; dJ468K18.4
    Summary
    Predicted to be involved in ribosomal small subunit biogenesis and ribosomal small subunit export from nucleus. Located in cytosol and nucleoplasm. Implicated in inflammatory poikiloderma with hair abnormalities and acral keratoses. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 17.0), testis (RPKM 13.5) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See LTV1 in Genome Data Viewer
    Location:
    6q24.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (143843338..143863812)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (145036018..145056492)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (144164475..144184949)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378035 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:143832494-143833156 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:143833157-143833817 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17627 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17628 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17629 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25203 Neighboring gene PHACTR2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17630 Neighboring gene phosphatase and actin regulator 2 Neighboring gene MPRA-validated peak6177 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:143958702-143959245 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:143998446-143999294 Neighboring gene MPRA-validated peak6179 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:144059920-144060420 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:144065167-144065836 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:144067178-144067848 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:144067849-144068518 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:144068519-144069188 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25206 Neighboring gene MPRA-validated peak6180 silencer Neighboring gene MPRA-validated peak6181 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25207 Neighboring gene zinc finger C2HC-type containing 1B Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:144279682-144280240 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:144285771-144286284 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:144293958-144294542 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:144294543-144295127 Neighboring gene PLAG1 like zinc finger 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:144328825-144329007 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17632 Neighboring gene hydatidiform mole associated and imprinted

    Genomic regions, transcripts, and products

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • FLJ14909, FLJ18519

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in ribosomal small subunit biogenesis  
    involved_in ribosomal small subunit export from nucleus  
    involved_in ribosome biogenesis  
    Component Evidence Code Pubs
    is_active_in cytosol  
    located_in cytosol  
    located_in cytosol  
    located_in nucleoplasm  
    located_in nucleoplasm  
    is_active_in nucleus  
    part_of preribosome, small subunit precursor  

    General protein information

    Preferred Names
    protein LTV1 homolog
    Names
    LTV1 homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001329953.2NP_001316882.1  protein LTV1 homolog isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AL049844
    2. NM_032860.5NP_116249.2  protein LTV1 homolog isoform 1

      See identical proteins and their annotated locations for NP_116249.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AA453435, BC009855, DA885378
      Consensus CDS
      CCDS5201.1
      UniProtKB/Swiss-Prot
      Q96GA3, Q96JX8
      Related
      ENSP00000356548.5, ENST00000367576.6
      Conserved Domains (1) summary
      pfam04180
      Location:15445
      LTV; Low temperature viability protein

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      143843338..143863812
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      145036018..145056492
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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