LTV1
Protein LTV1 homolog
Also known as: C6orf93, dJ468K18.4, FLJ14909, LTV1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96GA3
- Gene
- LTV1
- Ensembl
- ENSG00000135521
- Chromosome
- 6
- Canonical length
- 475 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
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, Jul 2025]
Canonical amino-acid sequenceUniProt
475 residues, UniProt reviewed canonical sequence.
>Q96GA3|LTV1
1 MPHRKKKPFI EKKKAVSFHL VHRSQRDPLA ADESAPQRVL LPTQKIDNEE RRAEQRKYGV
61 FFDDDYDYLQ HLKEPSGPSE LIPSSTFSAH NRREEKEETL VIPSTGIKLP SSVFASEFEE
121 DVGLLNKAAP VSGPRLDFDP DIVAALDDDF DFDDPDNLLE DDFILQANKA TGEEEGMDIQ
181 KSENEDDSEW EDVDDEKGDS NDDYDSAGLL SDEDCMSVPG KTHRAIADHL FWSEETKSRF
241 TEYSMTSSVM RRNEQLTLHD ERFEKFYEQY DDDEIGALDN AELEGSIQVD SNRLQEVLND
301 YYKEKAENCV KLNTLEPLED QDLPMNELDE SEEEEMITVV LEEAKEKWDC ESICSTYSNL
361 YNHPQLIKYQ PKPKQIRISS KTGIPLNVLP KKGLTAKQTE RIQMINGSDL PKVSTQPRSK
421 NESKEDKRAR KQAIKEERKE RRVEKKANKL AFKLEKRRQE KELLNLKKNV EGLKLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against LTV1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.57
- Highest tissue expression
- 50 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 50 nTPM
- skeletal muscle: 35 nTPM
- skin: 28 nTPM
- adipose tissue: 25 nTPM
- lymph node: 25 nTPM
- tonsil: 24 nTPM
Single-cell type
- oocytes: 51 nCPM
- differentiating spermatogonia: 43 nCPM
- early primary spermatocytes: 33 nCPM
- erythrocyte progenitors: 33 nCPM
- megakaryocyte progenitors: 27 nCPM
- megakaryocyte-erythroid progenitors: 23 nCPM
Immune cell
- NK-cell: 36 nTPM
- plasmacytoid DC: 31 nTPM
- memory B-cell: 29 nTPM
- myeloid DC: 25 nTPM
- naive CD8 T-cell: 25 nTPM
- naive B-cell: 25 nTPM
Brain region
- white matter: 16 nTPM
- hypothalamus: 15 nTPM
- cerebral cortex: 15 nTPM
- thalamus: 15 nTPM
- cerebellum: 14 nTPM
- basal ganglia: 14 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about LTV1.
Disease | AllUniProt
Conditions LTV1 is implicated in, by any mechanism.
- Inflammatory poikiloderma with hair abnormalities and acral keratoses (IPHAK) MIM:620199
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 80 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Inflammatory poikiloderma with hair abnormalities and acral keratoses
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.87
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.44
- DepMap mean gene effect
- -1.04
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Low temperature viability protein Ltv1
- Low temperature viability protein
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of LTV1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads LTV1 as an antibody target. Whether an autoantibody or antibody against LTV1 could matter depends on whether native LTV1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
LTV1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label LTV1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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