LTV1
gene geneOn this page
Also known as FLJ14909dJ468K18.4
Summary
LTV1 (LTV1 ribosome biogenesis factor, HGNC:21173) is a protein-coding gene on chromosome 6q24.2, encoding Protein LTV1 homolog (Q96GA3). Essential for ribosome biogenesis. It is a selective cancer dependency (DepMap: 89.9% of cell lines).
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.
Source: NCBI Gene 84946 — RefSeq curated summary.
At a glance
- Gene–disease (curated): inflammatory poikiloderma with hair abnormalities and acral keratoses (Moderate, GenCC)
- Clinical variants (ClinVar): 78 total — 1 pathogenic
- Phenotypes (HPO): 11
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 89.9% of screened cell lines
- MANE Select transcript:
NM_032860
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21173 |
| Approved symbol | LTV1 |
| Name | LTV1 ribosome biogenesis factor |
| Location | 6q24.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ14909, dJ468K18.4 |
| Ensembl gene | ENSG00000135521 |
| Ensembl biotype | protein_coding |
| OMIM | 620074 |
| Entrez | 84946 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 7 protein_coding
ENST00000367576, ENST00000868801, ENST00000918498, ENST00000918499, ENST00000918500, ENST00000918501, ENST00000970779
RefSeq mRNA: 2 — MANE Select: NM_032860
NM_001329953, NM_032860
CCDS: CCDS5201
Canonical transcript exons
ENST00000367576 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000455901 | 143862104 | 143862243 |
| ENSE00000764889 | 143850131 | 143850218 |
| ENSE00000764892 | 143860426 | 143860553 |
| ENSE00000764894 | 143862844 | 143862896 |
| ENSE00000764895 | 143863086 | 143863286 |
| ENSE00000799013 | 143846051 | 143846224 |
| ENSE00001122515 | 143857752 | 143858007 |
| ENSE00001122520 | 143857303 | 143857444 |
| ENSE00001445066 | 143863417 | 143863812 |
| ENSE00001445069 | 143843338 | 143843480 |
| ENSE00003508857 | 143844486 | 143844617 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 95.82.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 38.5626 / max 486.0804, expressed in 1820 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 70268 | 37.5638 | 1818 |
| 70267 | 0.9988 | 631 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| epithelial cell of pancreas | CL:0000083 | 95.82 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 91.50 | silver quality |
| gastrocnemius | UBERON:0001388 | 91.41 | gold quality |
| upper arm skin | UBERON:0004263 | 91.19 | gold quality |
| kidney epithelium | UBERON:0004819 | 91.09 | silver quality |
| monocyte | CL:0000576 | 90.99 | gold quality |
| skin of abdomen | UBERON:0001416 | 90.97 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 90.86 | silver quality |
| muscle of leg | UBERON:0001383 | 90.77 | gold quality |
| leukocyte | CL:0000738 | 90.62 | gold quality |
| left uterine tube | UBERON:0001303 | 90.45 | gold quality |
| oocyte | CL:0000023 | 90.25 | gold quality |
| sperm | CL:0000019 | 90.23 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 90.16 | gold quality |
| body of pancreas | UBERON:0001150 | 90.16 | gold quality |
| skin of leg | UBERON:0001511 | 89.95 | gold quality |
| myocardium | UBERON:0002349 | 89.93 | silver quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.87 | gold quality |
| peritoneum | UBERON:0002358 | 89.75 | gold quality |
| omental fat pad | UBERON:0010414 | 89.75 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 89.59 | gold quality |
| zone of skin | UBERON:0000014 | 89.55 | gold quality |
| deltoid | UBERON:0001476 | 89.49 | gold quality |
| left adrenal gland | UBERON:0001234 | 89.45 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 89.44 | gold quality |
| islet of Langerhans | UBERON:0000006 | 89.41 | gold quality |
| pancreas | UBERON:0001264 | 89.39 | gold quality |
| vermiform appendix | UBERON:0001154 | 89.30 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 89.28 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 89.25 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.59 |
| E-MTAB-7249 | no | 312.71 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
42 targeting LTV1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
| HSA-MIR-106B-5P | 99.88 | 74.72 | 2795 |
| HSA-MIR-20A-5P | 99.88 | 74.76 | 2769 |
| HSA-MIR-20B-5P | 99.88 | 74.01 | 2621 |
| HSA-MIR-519D-3P | 99.88 | 73.97 | 2607 |
| HSA-MIR-526B-3P | 99.88 | 74.06 | 2587 |
| HSA-MIR-93-5P | 99.88 | 73.98 | 2606 |
| HSA-MIR-369-3P | 99.85 | 70.52 | 2264 |
| HSA-MIR-374C-5P | 99.80 | 72.06 | 2910 |
| HSA-MIR-655-3P | 99.80 | 72.19 | 2909 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-7154-5P | 99.69 | 70.52 | 1900 |
| HSA-MIR-4470 | 99.66 | 69.35 | 1767 |
| HSA-MIR-545-5P | 99.66 | 70.18 | 2308 |
| HSA-MIR-5197-5P | 99.64 | 69.08 | 1494 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-3923 | 99.52 | 69.21 | 446 |
| HSA-MIR-21-5P | 99.46 | 70.54 | 1035 |
| HSA-MIR-16-2-3P | 99.29 | 70.60 | 1954 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 89.9% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 2)
- Ribosome biogenesis factor Ltv1 chaperones the assembly of the small subunit head. (PMID:30348748)
- Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder. (PMID:34999892)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ltv1 | ENSDARG00000008490 |
| mus_musculus | Ltv1 | ENSMUSG00000019814 |
| rattus_norvegicus | Ltv1 | ENSRNOG00000015217 |
| drosophila_melanogaster | LTV1 | FBGN0027525 |
| caenorhabditis_elegans | T23D8.3 | WBGENE00011944 |
Protein
Protein identifiers
Protein LTV1 homolog — Q96GA3 (reviewed: Q96GA3)
All UniProt accessions (1): Q96GA3
UniProt curated annotations — full annotation on UniProt →
Function. Essential for ribosome biogenesis.
Subcellular location. Cytoplasm.
Tissue specificity. Expressed in the epidermis.
Disease relevance. Inflammatory poikiloderma with hair abnormalities and acral keratoses (IPHAK) [MIM:620199] An autosomal recessive disorder characterized by mottled hyper- and hypopigmentation of the skin, sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses. The disease may be caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the LTV1 family.
RefSeq proteins (2): NP_001316882, NP_116249* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007307 | Ltv1 | Family |
Pfam: PF04180
UniProt features (22 total): modified residue 5, region of interest 4, helix 4, strand 3, compositionally biased region 2, chain 1, sequence variant 1, turn 1, coiled-coil region 1
Structure
Experimental structures (PDB)
13 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7WTU | ELECTRON MICROSCOPY | 3 |
| 7WTZ | ELECTRON MICROSCOPY | 3 |
| 7WTT | ELECTRON MICROSCOPY | 3.1 |
| 7WTX | ELECTRON MICROSCOPY | 3.1 |
| 7WTW | ELECTRON MICROSCOPY | 3.2 |
| 7WU0 | ELECTRON MICROSCOPY | 3.3 |
| 6G18 | ELECTRON MICROSCOPY | 3.6 |
| 8ZDD | ELECTRON MICROSCOPY | 3.7 |
| 8ZDC | ELECTRON MICROSCOPY | 3.8 |
| 6G4S | ELECTRON MICROSCOPY | 4 |
| 6G51 | ELECTRON MICROSCOPY | 4.1 |
| 6G4W | ELECTRON MICROSCOPY | 4.5 |
| 6G53 | ELECTRON MICROSCOPY | 4.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96GA3-F1 | 69.24 | 0.09 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (5): 248, 331, 408, 17, 24
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-6791226 | Major pathway of rRNA processing in the nucleolus and cytosol |
| R-HSA-72312 | rRNA processing |
| R-HSA-8868773 | rRNA processing in the nucleus and cytosol |
| R-HSA-8953854 | Metabolism of RNA |
MSigDB gene sets: 164 (showing top):
GOBP_RIBOSOME_BIOGENESIS, GOBP_NUCLEAR_TRANSPORT, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOBP_NUCLEAR_EXPORT, MODULE_207, GOBP_ORGANELLE_LOCALIZATION, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, REACTOME_METABOLISM_OF_RNA, GOCC_PRERIBOSOME, GOCC_RIBONUCLEOPROTEIN_COMPLEX, SCGGAAGY_ELK1_02, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_11, KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN, GOBP_RIBOSOMAL_SMALL_SUBUNIT_EXPORT_FROM_NUCLEUS
GO Biological Process (3): ribosomal small subunit export from nucleus (GO:0000056), ribosome biogenesis (GO:0042254), ribosomal small subunit biogenesis (GO:0042274)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), preribosome, small subunit precursor (GO:0030688), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| rRNA processing in the nucleus and cytosol | 1 |
| Metabolism of RNA | 1 |
| rRNA processing | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| ribonucleoprotein complex biogenesis | 2 |
| ribosomal subunit export from nucleus | 1 |
| ribosome biogenesis | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| preribosome | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
2668 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LTV1 | BYSL | Q13895 | 991 |
| LTV1 | RIOK2 | Q9BVS4 | 943 |
| LTV1 | TSR1 | Q2NL82 | 943 |
| LTV1 | PNO1 | Q9NRX1 | 916 |
| LTV1 | RRAGC | Q9HB90 | 894 |
| LTV1 | NOB1 | Q9ULX3 | 889 |
| LTV1 | RPS3 | P23396 | 838 |
| LTV1 | XPO1 | O14980 | 823 |
| LTV1 | RRP12 | Q5JTH9 | 795 |
| LTV1 | RPS10 | P46783 | 779 |
| LTV1 | RIOK1 | Q9BRS2 | 776 |
| LTV1 | NMD3 | Q96D46 | 725 |
| LTV1 | RPS20 | P17075 | 690 |
| LTV1 | TXNL4B | Q9NX01 | 678 |
| LTV1 | GPATCH2 | Q9NW75 | 637 |
IntAct
182 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BMI1 | CBX4 | psi-mi:“MI:0914”(association) | 0.900 |
| BYSL | LTV1 | psi-mi:“MI:0915”(physical association) | 0.870 |
| LTV1 | BYSL | psi-mi:“MI:0915”(physical association) | 0.870 |
| PCGF2 | CBX4 | psi-mi:“MI:0914”(association) | 0.840 |
| RPS3 | LTV1 | psi-mi:“MI:0915”(physical association) | 0.800 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| BYSL | PARN | psi-mi:“MI:0914”(association) | 0.640 |
| TSR1 | RPS3 | psi-mi:“MI:0914”(association) | 0.640 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| RACK1 | RIOK3 | psi-mi:“MI:0914”(association) | 0.640 |
| LTV1 | CSNK2A1 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.590 |
| GAS2L2 | LTV1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPS14 | MAGEB2 | psi-mi:“MI:0914”(association) | 0.560 |
| ZNF324B | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZBTB48 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| TSR1 | PARN | psi-mi:“MI:0914”(association) | 0.530 |
| CBX6 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| RIOK2 | BYSL | psi-mi:“MI:0914”(association) | 0.530 |
| RPS3 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (260): LTV1 (Two-hybrid), LTV1 (Affinity Capture-MS), LTV1 (Affinity Capture-MS), LTV1 (Affinity Capture-MS), LTV1 (Affinity Capture-MS), LTV1 (Affinity Capture-MS), LTV1 (Co-fractionation), LTV1 (Affinity Capture-MS), LTV1 (Reconstituted Complex), LTV1 (Proximity Label-MS), LTV1 (Proximity Label-MS), LTV1 (Proximity Label-MS), LTV1 (Proximity Label-MS), LTV1 (Proximity Label-MS), LTV1 (Proximity Label-MS)
ESM2 similar proteins: A4IGY3, A7SD85, A9ULY7, B0W6N3, C8VBH3, O08837, O57476, P0CO94, P0CO95, P39964, P51951, P92948, Q0VC06, Q13435, Q16543, Q173M7, Q28HX4, Q2KJC1, Q3TQI7, Q3UJB0, Q4P652, Q4R6Y7, Q4V838, Q4WHG0, Q4WVH3, Q51LS1, Q52G60, Q5EAC6, Q5H7N8, Q5R8B2, Q5RC87, Q5ZKI4, Q5ZKM1, Q61081, Q63692, Q6A068, Q6AYJ5, Q6DD06, Q7JWR9, Q7K3D8
Diamond homologs: Q0VC06, Q4V838, Q5R8B2, Q5U3J8, Q68FR7, Q6NSQ7, Q7KN79, Q8T1D4, Q96GA3, Q10191
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 188 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Eukaryotic Translation Initiation | 14 | 33.5× | 1e-16 |
| Cap-dependent Translation Initiation | 14 | 33.5× | 1e-16 |
| SARS-CoV-1 modulates host translation machinery | 14 | 33.5× | 1e-16 |
| Eukaryotic Translation Elongation | 14 | 30.2× | 3e-16 |
| Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S | 14 | 29.5× | 4e-16 |
| Nonsense-Mediated Decay (NMD) | 15 | 27.1× | 2e-16 |
| Influenza Viral RNA Transcription and Replication | 15 | 25.1× | 4e-16 |
| SARS-CoV-2 modulates host translation machinery | 14 | 24.3× | 6e-15 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 7 | 28.4× | 7e-07 |
| maturation of SSU-rRNA | 6 | 27.7× | 9e-06 |
| cytoplasmic translation | 19 | 21.2× | 3e-17 |
| ribosomal small subunit biogenesis | 15 | 20.6× | 2e-13 |
| stress granule assembly | 5 | 18.1× | 6e-04 |
| mRNA stabilization | 6 | 13.2× | 5e-04 |
| translation | 20 | 12.4× | 9e-14 |
| negative regulation of proteasomal ubiquitin-dependent protein catabolic process | 5 | 12.1× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
78 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 58 |
| Likely benign | 2 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2443758 | NM_032860.5(LTV1):c.503A>G (p.Asn168Ser) | Pathogenic |
SpliceAI
2203 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:143844577:A:G | donor_gain | 1.0000 |
| 6:143844618:G:GG | donor_gain | 1.0000 |
| 6:143846049:A:AG | acceptor_gain | 1.0000 |
| 6:143846050:G:GG | acceptor_gain | 1.0000 |
| 6:143846050:GATA:G | acceptor_gain | 1.0000 |
| 6:143846192:A:T | donor_gain | 1.0000 |
| 6:143846224:AGTAA:A | donor_loss | 1.0000 |
| 6:143846225:G:GG | donor_gain | 1.0000 |
| 6:143846225:GT:G | donor_loss | 1.0000 |
| 6:143846226:T:G | donor_loss | 1.0000 |
| 6:143850128:A:AG | acceptor_gain | 1.0000 |
| 6:143850129:A:G | acceptor_gain | 1.0000 |
| 6:143850130:GA:G | acceptor_gain | 1.0000 |
| 6:143857297:TTCTA:T | acceptor_loss | 1.0000 |
| 6:143857298:TCTA:T | acceptor_loss | 1.0000 |
| 6:143857299:CTA:C | acceptor_loss | 1.0000 |
| 6:143857301:A:AC | acceptor_loss | 1.0000 |
| 6:143857301:A:AG | acceptor_gain | 1.0000 |
| 6:143857301:AG:A | acceptor_gain | 1.0000 |
| 6:143857302:G:GT | acceptor_gain | 1.0000 |
| 6:143857302:GG:G | acceptor_gain | 1.0000 |
| 6:143857386:G:GT | donor_gain | 1.0000 |
| 6:143857404:GCCAA:G | donor_gain | 1.0000 |
| 6:143857421:A:T | donor_gain | 1.0000 |
| 6:143857425:G:GT | donor_gain | 1.0000 |
| 6:143857432:G:T | donor_gain | 1.0000 |
| 6:143857445:G:GG | donor_gain | 1.0000 |
| 6:143858004:GAAG:G | donor_gain | 1.0000 |
| 6:143858006:AGGTA:A | donor_loss | 1.0000 |
| 6:143858007:GGT:G | donor_loss | 1.0000 |
AlphaMissense
3173 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:143844534:T:C | F18L | 0.998 |
| 6:143844536:T:A | F18L | 0.998 |
| 6:143844536:T:G | F18L | 0.998 |
| 6:143844535:T:C | F18S | 0.997 |
| 6:143844549:C:G | R23G | 0.997 |
| 6:143844550:G:C | R23P | 0.997 |
| 6:143844562:A:G | D27G | 0.996 |
| 6:143844598:T:A | V39D | 0.996 |
| 6:143844601:T:C | L40P | 0.996 |
| 6:143844601:T:A | L40Q | 0.995 |
| 6:143846130:T:C | L72P | 0.995 |
| 6:143850147:T:C | L109S | 0.995 |
| 6:143857338:G:C | A145P | 0.995 |
| 6:143844561:G:C | D27H | 0.994 |
| 6:143857342:T:C | L146P | 0.994 |
| 6:143863421:G:C | R441P | 0.994 |
| 6:143844552:A:C | S24R | 0.993 |
| 6:143844554:C:A | S24R | 0.993 |
| 6:143844554:C:G | S24R | 0.993 |
| 6:143844563:T:A | D27E | 0.993 |
| 6:143844563:T:G | D27E | 0.993 |
| 6:143857335:G:C | A144P | 0.993 |
| 6:143844544:T:A | V21D | 0.992 |
| 6:143844562:A:C | D27A | 0.992 |
| 6:143844562:A:T | D27V | 0.992 |
| 6:143862234:T:C | S352P | 0.992 |
| 6:143863282:G:C | R438P | 0.992 |
| 6:143844559:G:C | R26P | 0.991 |
| 6:143850195:T:C | L125S | 0.991 |
| 6:143862243:A:C | S355R | 0.990 |
dbSNP variants (sampled 300 via entrez): RS1000147197 (6:143843943 T>G), RS1000175575 (6:143847849 CT>C,CTT), RS1000298555 (6:143847607 T>C,G), RS1000365730 (6:143849507 T>C), RS1000450271 (6:143842021 C>G), RS1000498357 (6:143842947 A>T), RS1000501873 (6:143842661 G>A,C), RS1000637476 (6:143853741 C>A,G,T), RS1000757631 (6:143859895 G>A), RS1000813219 (6:143848489 C>T), RS1000852959 (6:143854720 G>C), RS1001037633 (6:143861233 T>C,G), RS1001141294 (6:143860997 G>C), RS1001202373 (6:143857038 G>A,T), RS1001357334 (6:143851007 T>G)
Disease associations
OMIM: gene MIM:620074 | disease phenotypes: MIM:620199
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| inflammatory poikiloderma with hair abnormalities and acral keratoses | Moderate | Autosomal recessive |
Mondo (1): inflammatory poikiloderma with hair abnormalities and acral keratoses (MONDO:0859355)
Orphanet (0):
HPO phenotypes
11 total (11 of 11 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000653 | Sparse eyelashes |
| HP:0001029 | Poikiloderma |
| HP:0001070 | Mottled pigmentation |
| HP:0002209 | Sparse scalp hair |
| HP:0002223 | Absent eyebrow |
| HP:0003593 | Infantile onset |
| HP:0011463 | Childhood onset |
| HP:0034572 | Pigment incontinence |
| HP:0045075 | Sparse eyebrow |
| HP:0200016 | Acrokeratosis |
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4742314 (PROTEIN-PROTEIN INTERACTION)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases abundance, increases expression, decreases expression | 3 |
| bisphenol A | affects expression, affects cotreatment, increases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| glycidyl methacrylate | increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| cyclic 3’,5’-uridine monophosphate | affects binding | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Irinotecan | decreases expression | 1 |
| Fulvestrant | increases methylation, affects cotreatment | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Estradiol | increases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Lead | affects expression | 1 |
| Manganese | increases abundance, increases expression, affects cotreatment | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4713767 | Binding | Protac activity at CRBN/LTV1 in human BxPC-3 cells assessed as LTV1 degradation incubated for 16 hrs by proteomic analysis | Discovery of a Napabucasin PROTAC as an Effective Degrader of the E3 Ligase ZFP91. — J Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: inflammatory poikiloderma with hair abnormalities and acral keratoses
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): inflammatory poikiloderma with hair abnormalities and acral keratoses