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Aliases for LTV1 Gene

Aliases for LTV1 Gene

  • LTV1 Ribosome Biogenesis Factor 2 3 5
  • C6orf93 3 4
  • Chromosome 6 Open Reading Frame 93 2
  • LTV1 Homolog (S. Cerevisiae) 2
  • Protein LTV1 Homolog 3
  • LTV1 Homolog 3
  • DJ468K18.4 3

External Ids for LTV1 Gene

Previous HGNC Symbols for LTV1 Gene

  • C6orf93

Previous GeneCards Identifiers for LTV1 Gene

  • GC06P144207
  • GC06P144208
  • GC06P144164
  • GC06P141728

Summaries for LTV1 Gene

GeneCards Summary for LTV1 Gene

LTV1 (LTV1 Ribosome Biogenesis Factor) is a Protein Coding gene. Diseases associated with LTV1 include Spinal Cord Disease. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression. An important paralog of this gene is ENSG00000280148.

Additional gene information for LTV1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LTV1 Gene

Genomics for LTV1 Gene

Regulatory Elements for LTV1 Gene

Enhancers for LTV1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06H143449 1.5 FANTOM5 ENCODE 99.1 -392.6 -392638 3 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A LTV1 ADAT2 ENSG00000270890 PLAGL1 VDAC1P8 TUBB8P2 ENSG00000225752 PEX3 RNA5SP221
GH06H143741 1.6 Ensembl ENCODE dbSUPER 37.9 -97.6 -97595 9.5 PKNOX1 FOXA2 MLX ARID4B FEZF1 DMAP1 FOS SP5 ZHX2 MXD4 LTV1 ENSG00000270890 VDAC1P8 TUBB8P2 PHACTR2 ADAT2 PLAGL1 PHACTR2-AS1 ZC2HC1B GC06P143748
GH06H143691 1.5 Ensembl ENCODE dbSUPER 26.2 -150.6 -150572 2.9 FOXA2 MLX ARID4B SLC30A9 ZNF548 ZHX2 MIER2 PPARG KAT8 NFIL3 LTV1 ADAT2 ENSG00000270890 VDAC1P8 ZC2HC1B GC06M143473 GC06P143680
GH06H143058 1.7 Ensembl ENCODE dbSUPER 23.1 -781.0 -781042 7 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D ZNF610 VDAC1P8 LTV1 ADAT2 ENSG00000270890 AIG1 HIVEP2 ENSG00000232618 ENSG00000227192 ENSG00000225752
GH06H144214 1.4 Ensembl ENCODE 23.8 +373.0 372951 3 HDGF FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ADAT2 LTV1 ENSG00000270890 TUBB8P2 PLAGL1 SF3B5 GC06P144217 TPT1P4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LTV1 on UCSC Golden Path with GeneCards custom track

Promoters for LTV1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000204378 56 1601 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B

Genomic Locations for LTV1 Gene

Genomic Locations for LTV1 Gene
chr6:143,843,344-143,863,812
(GRCh38/hg38)
Size:
20,469 bases
Orientation:
Plus strand
chr6:144,164,481-144,184,949
(GRCh37/hg19)

Genomic View for LTV1 Gene

Genes around LTV1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LTV1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LTV1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LTV1 Gene

Proteins for LTV1 Gene

  • Protein details for LTV1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96GA3-LTV1_HUMAN
    Recommended name:
    Protein LTV1 homolog
    Protein Accession:
    Q96GA3
    Secondary Accessions:
    • Q96JX8

    Protein attributes for LTV1 Gene

    Size:
    475 amino acids
    Molecular mass:
    54855 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB55388.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for LTV1 Gene

Post-translational modifications for LTV1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LTV1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LTV1 Gene

Domains & Families for LTV1 Gene

Gene Families for LTV1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for LTV1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LTV1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96GA3

UniProtKB/Swiss-Prot:

LTV1_HUMAN :
  • Belongs to the LTV1 family.
Family:
  • Belongs to the LTV1 family.
genes like me logo Genes that share domains with LTV1: view

Function for LTV1 Gene

Phenotypes From GWAS Catalog for LTV1 Gene

Gene Ontology (GO) - Molecular Function for LTV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with LTV1: view

Phenotypes for LTV1 Gene

genes like me logo Genes that share phenotypes with LTV1: view

miRNA for LTV1 Gene

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LTV1 Gene

Localization for LTV1 Gene

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 LTV1 gene
Compartment Confidence
nucleus 5
cytosol 5
endosome 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LTV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol TAS --
GO:0030688 preribosome, small subunit precursor IBA --
GO:0031902 late endosome membrane IBA --
genes like me logo Genes that share ontologies with LTV1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for LTV1 Gene

Pathways & Interactions for LTV1 Gene

genes like me logo Genes that share pathways with LTV1: view

Gene Ontology (GO) - Biological Process for LTV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000056 ribosomal small subunit export from nucleus IBA --
GO:0006364 rRNA processing TAS --
GO:0042274 ribosomal small subunit biogenesis IBA --
genes like me logo Genes that share ontologies with LTV1: view

No data available for SIGNOR curated interactions for LTV1 Gene

Drugs & Compounds for LTV1 Gene

No Compound Related Data Available

Transcripts for LTV1 Gene

mRNA/cDNA for LTV1 Gene

Unigene Clusters for LTV1 Gene

LTV1 homolog (S. cerevisiae):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LTV1 Gene

No ASD Table

Relevant External Links for LTV1 Gene

GeneLoc Exon Structure for
LTV1
ECgene alternative splicing isoforms for
LTV1

Expression for LTV1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LTV1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LTV1 Gene

This gene is overexpressed in Lung (46.9) and Breast (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LTV1 Gene



Protein tissue co-expression partners for LTV1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LTV1 Gene:

LTV1

SOURCE GeneReport for Unigene cluster for LTV1 Gene:

Hs.185675

Evidence on tissue expression from TISSUES for LTV1 Gene

  • Skin(4.2)
genes like me logo Genes that share expression patterns with LTV1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for LTV1 Gene

Orthologs for LTV1 Gene

This gene was present in the common ancestor of animals.

Orthologs for LTV1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LTV1 33 34
  • 99.44 (n)
cow
(Bos Taurus)
Mammalia LTV1 33 34
  • 90.13 (n)
dog
(Canis familiaris)
Mammalia LTV1 33 34
  • 89.41 (n)
mouse
(Mus musculus)
Mammalia Ltv1 33 16 34
  • 83.9 (n)
rat
(Rattus norvegicus)
Mammalia Ltv1 33
  • 81.56 (n)
oppossum
(Monodelphis domestica)
Mammalia LTV1 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LTV1 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves LTV1 33 34
  • 72.22 (n)
lizard
(Anolis carolinensis)
Reptilia LTV1 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ltv1 33
  • 70.06 (n)
Str.12211 33
zebrafish
(Danio rerio)
Actinopterygii ltv1 33 34
  • 62.6 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.939 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010572 33
  • 54.38 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7686 33 34
  • 50.61 (n)
worm
(Caenorhabditis elegans)
Secernentea T23D8.3 33 34
  • 48.17 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 48 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13508 33
Species where no ortholog for LTV1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for LTV1 Gene

ENSEMBL:
Gene Tree for LTV1 (if available)
TreeFam:
Gene Tree for LTV1 (if available)

Paralogs for LTV1 Gene

Paralogs for LTV1 Gene

Pseudogenes.org Pseudogenes for LTV1 Gene

genes like me logo Genes that share paralogs with LTV1: view

Variants for LTV1 Gene

Sequence variations from dbSNP and Humsavar for LTV1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000147197 -- 143,843,943(+) CCAGT(G/T)TAGAG intron-variant
rs1000175575 -- 143,847,849(+) TATAC(-/T)TTTTT intron-variant
rs1000298555 -- 143,847,607(+) CTGCC(G/T)GCCTC intron-variant
rs1000365730 -- 143,849,507(+) CATGG(C/T)GATAC intron-variant
rs1000450271 -- 143,842,021(+) CTGCC(C/G)CCTTG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for LTV1 Gene

Variant ID Type Subtype PubMed ID
nsv830830 CNV gain 17160897
nsv5514 CNV insertion 18451855
nsv1034894 CNV gain 25217958

Variation tolerance for LTV1 Gene

Residual Variation Intolerance Score: 49.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.09; 38.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LTV1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LTV1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LTV1 Gene

Disorders for LTV1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LTV1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spinal cord disease
  • myelopathy
- elite association - COSMIC cancer census association via MalaCards
Search LTV1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for LTV1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LTV1
genes like me logo Genes that share disorders with LTV1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LTV1 Gene

Publications for LTV1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  3. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 60
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal KB … Olsen JV (Science signaling 2015) 3 60
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60

Products for LTV1 Gene

Sources for LTV1 Gene

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