LARP1B
La Ribonucleoprotein Domain Family Member 1B
Gene Information Card
| Symbol | LARP1B |
|---|---|
| Full Name | La ribonucleoprotein domain family member 1B |
| Gene Type | Protein coding |
| Chromosomal Location | 4q28.2 |
| NCBI Gene ID | 55132 ncbi.nlm.nih.gov/gene/55132 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q6PKG0 |
| OMIM ID | 612024 |
| HGNC ID | 24905 |
| Aliases | LARP1B, LARP1B1, LARP1B2 |
Description
LARP1B (La ribonucleoprotein domain family member 1B) is a protein-coding gene that encodes an RNA-binding protein involved in post-transcriptional regulation, including mRNA stability and translation. It belongs to the La-related protein (LARP) family and is implicated in cellular growth and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of LARP1B expression may alter mRNA translation of oncogenes or tumor suppressors. | COSMIC database reports somatic mutations in multiple cancer types. |
| No specific Mendelian disease association | No germline pathogenic variants have been established in OMIM or ClinVar. | OMIM and ClinVar lack disease-causing variant entries. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
| Heart | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney cell line |
| HeLa | 8.7 | Cervical cancer cell line |
| K562 | 6.5 | Leukemia cell line |
| A549 | 5.9 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Lys412Glu) | Missense | 0.02% (gnomAD) | Unknown functional impact |
| c.567_568del (p.Glu190fs) | Frameshift | 0.001% (COSMIC) | Predicted loss of function |
| c.890C>T (p.Thr297Met) | Missense | 0.01% (ClinVar) | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Glu190fs) likely result in nonsense-mediated decay or truncated protein, reducing RNA-binding capacity.
Gain of Function (GOF)
No gain-of-function mutations have been reported in LARP1B.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for LARP1B.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA binding |
| • cytoplasm | • ribonucleoprotein complex |
| • regulation of translation |
Pathways
• mRNA surveillance pathway
• Translation regulation by RNA-binding proteins
Protein Summary
The LARP1B protein contains a La motif and an RRM (RNA recognition motif), enabling it to bind poly(A) tails and regulate mRNA stability and translation. It is predominantly cytoplasmic and may influence cell proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LARP1B Knockout HEK293 Cell Line | EDJ-KQ14025 | Human | 55132 | Details Get a Quote |
| LARP1B Knockout A-549 Cell Line | EDJ-KQ43934 | Human | 55132 | Details Get a Quote |
| LARP1B Knockout HCT 116 Cell Line | EDJ-KQ43935 | Human | 55132 | Details Get a Quote |
| LARP1B Knockout HeLa Cell Line | EDJ-KQ43936 | Human | 55132 | Details Get a Quote |
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