LTV1 (LTV1 ribosome biogenesis factor)

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Gene Gene information from NCBI Gene database.
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Entrez ID 84946
Gene name LTV1 ribosome biogenesis factor
Gene symbol LTV1
Synonyms (NCBI Gene)
C6orf93IPHAKdJ468K18.4
Chromosome 6
Chromosome location 6q24.2
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT045929 hsa-miR-125b-5p CLASH 23622248
MIRT2265016 hsa-miR-181a CLIP-seq
MIRT2265017 hsa-miR-181b CLIP-seq
MIRT2265018 hsa-miR-181c CLIP-seq
MIRT2265019 hsa-miR-181d CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0000056 Process Ribosomal small subunit export from nucleus IBA
GO:0005515 Function Protein binding IPI 22113938, 25416956, 28514442, 32296183, 33961781, 35271311, 39251607
GO:0005634 Component Nucleus IBA
GO:0005654 Component Nucleoplasm IDA
GO:0005654 Component Nucleoplasm TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
620074 21173 ENSG00000135521
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96GA3
Protein name Protein LTV1 homolog
Protein function Essential for ribosome biogenesis.
PDB 6G18 , 6G4S , 6G4W , 6G51 , 6G53 , 7WTT , 7WTU , 7WTW , 7WTX , 7WTZ , 7WU0 , 8ZDC , 8ZDD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04180 LTV 11 → 445 Low temperature viability protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the epidermis. {ECO:0000269|PubMed:34999892}.
Sequence 
MPHRKKKPFIEKKKAVSFHLVHRSQRDPLAADESAPQRVLLPTQKIDNEERRAEQRKYGV
FFDDDYDYLQHLKEPSGPSELIPSSTFSAHNRREEKEETLVIPSTGIKLPSSVFASEFEE
DVGLLNKAAPVSGPRLDFDPDIVAALDDDFDFDDPDNLLEDDFILQANKATGEEEGMDIQ
KSENEDDSEWEDVDDEKGDSNDDYDSAGLLSDEDCMSVPGKTHRAIADHLFWSEETKSRF
TEYSMTSSVMRRNEQLTLHDERFEKFYEQYDDDEIGALDNAELEGSIQVDSNRLQEVLND
YYKEKAENCVKLNTLEPLEDQDLPMNELDESEEEEMITVVLEEAKEKWDCESICSTYSNL
YNHPQLIKYQPKPKQIRISSKTGIPLNVLPKKGLTAKQTERIQMINGSDLPKVSTQPRSK
NESKEDKRARKQAIKEERKERRVEKKANKLAFKLEKRRQEKELLNLKKNVEGLKL
Sequence length 475
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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Reactome Pathway
Major pathway of rRNA processing in the nucleolus and cytosol
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Inflammatory poikiloderma with hair abnormalities and acral keratoses Pathogenic rs932818172 RCV003152365
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Neoplasms Breast neoplasm Pubtator 25778921 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Keratosis Keratosis Pubtator 34999892 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for LTV1.

No additional diseases found yet through genes similar to LTV1.