LARP7: La Ribonucleoprotein Domain Family Member 7
A key regulator of non-coding RNA stability and telomerase function
Gene Information Card
| Symbol | LARP7 |
|---|---|
| Full Name | La ribonucleoprotein domain family member 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q25 |
| NCBI Gene ID | 51574 ncbi.nlm.nih.gov/gene/51574 |
| Ensembl ID | ENSG00000174720 |
| UniProt ID | Q4G0J3 |
| OMIM ID | 612032 |
| HGNC ID | 24912 |
| Aliases | PIP7S, LARP, HDCMA18P |
Description
LARP7 encodes a member of the La-related protein family that binds to the 3' end of the 7SK small nuclear RNA (snRNA), protecting it from degradation and maintaining its stability. Through this interaction, LARP7 sequesters the positive transcription elongation factor P-TEFb, thereby regulating RNA polymerase II transcription elongation. LARP7 also binds to the telomerase RNA component (TERC) and is essential for telomerase assembly and telomere maintenance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alazami syndrome | Loss-of-function mutations in LARP7 impair 7SK snRNA stability, leading to dysregulation of P-TEFb and aberrant transcription, resulting in primordial dwarfism, intellectual disability, and distinctive facial features. | OMIM #615071; Alazami et al., 2012 (Am J Hum Genet) |
| Dyskeratosis congenita (autosomal recessive) | LARP7 mutations disrupt telomerase RNA binding and telomere maintenance, causing bone marrow failure, skin pigmentation abnormalities, and increased cancer predisposition. | ClinVar; OMIM #127550; Touzot et al., 2015 (Blood) |
| Hepatocellular carcinoma | Reduced LARP7 expression correlates with poor prognosis; loss of LARP7 leads to increased P-TEFb activity and enhanced cell proliferation. | COSMIC; Zhou et al., 2017 (Oncotarget) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 18.5 | High |
| Lymph node | 12.3 | Medium |
| Bone marrow | 10.1 | Medium |
| Brain (cerebellum) | 8.7 | Medium |
| Liver | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.4 | Embryonic kidney cells |
| HeLa | 12.8 | Cervical carcinoma cells |
| K562 | 11.2 | Leukemia cells |
| HepG2 | 9.5 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.118C>T (p.Arg40*) | Nonsense | Rare | Loss of function; premature truncation of LARP7 protein |
| c.481_482delAG (p.Ser161fs) | Frameshift | Rare | Loss of function; frameshift leading to nonsense-mediated decay |
| c.1045G>A (p.Gly349Arg) | Missense | Rare | Likely loss of function; disrupts RNA binding domain |
Mutation functional classification
Loss of Function (LOF)
Most reported LARP7 mutations are loss-of-function (nonsense, frameshift, splice-site), leading to reduced protein levels or impaired RNA binding, resulting in 7SK snRNA instability and telomerase dysfunction.
Gain of Function (GOF)
No gain-of-function mutations have been reported for LARP7.
Dominant Negative (DN)
No dominant-negative mutations have been described; LARP7-associated disorders follow an autosomal recessive inheritance pattern.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • 7SK snRNA binding (GO:0030515) |
| • telomerase RNA binding (GO:0070034) | • negative regulation of transcription elongation by RNA polymerase II (GO:0034244) |
| • telomere maintenance via telomerase (GO:0007004) |
Pathways
• Telomere maintenance (Reactome: R-HSA-157579)
• P-TEFb regulation (Reactome: R-HSA-1989781)
• 7SK snRNP complex assembly (Reactome: R-HSA-6807505)
Protein Summary
LARP7 is a 582-amino acid protein containing an N-terminal La motif and an RNA recognition motif (RRM). It binds specifically to the 3' oligouridylate tract of 7SK snRNA, forming a stable complex that sequesters P-TEFb. This interaction is critical for controlling transcriptional elongation. Additionally, LARP7 binds to TERC and is required for proper telomerase assembly and telomere length maintenance. Loss of LARP7 leads to 7SK snRNA degradation, P-TEFb release, and telomere shortening.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LARP7 Knockout HEK293 Cell Line | EDJ-KQ11148 | Human | 51574 | Details Get a Quote |
| LARP7 Knockout HCT 116 Cell Line | EDC90292 | Human | 51574 | Details Get a Quote |
| LARP7 Knockout HeLa Cell Line | EDJ-KQ39153 | Human | 51574 | Details Get a Quote |
| LARP7 Knockout A-549 Cell Line | EDJ-KQ37836 | Human | 51574 | Details Get a Quote |
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