LUC7L
LUC7 Like Pre-mRNA Splicing Factor
Gene Information Card
| Symbol | LUC7L |
|---|---|
| Full Name | LUC7 Like Pre-mRNA Splicing Factor |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 55692 ncbi.nlm.nih.gov/gene/55692 |
| Ensembl ID | ENSG00000107362 |
| UniProt ID | Q9NQ29 |
| OMIM ID | 607782 |
| HGNC ID | 19844 |
| Aliases | LUC7L1, CGI-59, FLJ10305, LUC7A |
Description
LUC7L encodes a protein that is a component of the U1 snRNP spliceosome complex, involved in pre-mRNA splicing. The protein contains a C2H2-type zinc finger domain and is implicated in RNA processing and alternative splicing regulation. LUC7L is evolutionarily conserved and plays a role in cell cycle progression and DNA damage response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myelodysplastic syndrome | Somatic mutations in LUC7L may alter splicing of genes involved in hematopoiesis | COSMIC, ClinVar |
| Acute myeloid leukemia | Recurrent mutations in splicing factor genes including LUC7L | COSMIC |
| Colorectal cancer | LUC7L overexpression associated with poor prognosis | NCBI Gene, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Testis | 8.3 | Low |
| Spleen | 6.7 | Low |
| Lymph node | 5.9 | Low |
| Brain | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 15.2 | Leukemia cell line |
| HEK293 | 10.8 | Embryonic kidney |
| HeLa | 9.4 | Cervical carcinoma |
| HepG2 | 7.1 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374G>A (p.Arg125His) | Missense | 0.02% | Unknown functional impact |
| c.487C>T (p.Arg163Trp) | Missense | 0.01% | Potential loss of splicing function |
| c.601_603del (p.Lys201del) | In-frame deletion | 0.005% | Altered protein stability |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the zinc finger domain may disrupt RNA binding and splicing activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA splicing | • mRNA processing |
| • spliceosomal complex assembly | • zinc ion binding |
| • nucleus |
Pathways
• mRNA Splicing - Major Pathway
• Processing of Capped Intron-Containing Pre-mRNA
Protein Summary
The LUC7L protein (UniProt Q9NQ29) is 370 amino acids long and contains a C2H2-type zinc finger domain. It localizes to the nucleus and is a component of the U1 snRNP, essential for 5' splice site recognition. The protein interacts with other spliceosomal factors and is involved in alternative splicing regulation. LUC7L is ubiquitously expressed with higher levels in hematopoietic tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LUC7L2 Knockout HEK293 Cell Line | EDJ-KQ10473 | Human | 51631 | Details Get a Quote |
| LUC7L Knockout HEK293 Cell Line | EDJ-KQ14154 | Human | 55692 | Details Get a Quote |
| LUC7L2 Knockout A-549 Cell Line | EDJ-KQ39182 | Human | 51631 | Details Get a Quote |
| LUC7L2 Knockout HCT 116 Cell Line | EDJ-KQ39184 | Human | 51631 | Details Get a Quote |
| LUC7L2 Knockout HeLa Cell Line | EDJ-KQ39185 | Human | 51631 | Details Get a Quote |
| LUC7L Knockout A-549 Cell Line | EDJ-KQ44078 | Human | 55692 | Details Get a Quote |
| LUC7L Knockout HCT 116 Cell Line | EDJ-KQ44079 | Human | 55692 | Details Get a Quote |
| LUC7L Knockout HeLa Cell Line | EDJ-KQ42858 | Human | 55692 | Details Get a Quote |
| FMC1-LUC7L2 Knockout HEK293 Cell Line | EDJ-KQ52519 | Human | 100996928 | Details Get a Quote |
| FMC1-LUC7L2 Knockout HeLa Cell Line | EDJ-KQ60989 | Human | 100996928 | Details Get a Quote |
| FMC1-LUC7L2 Knockout A-549 Cell Line | EDJ-KQ69463 | Human | 100996928 | Details Get a Quote |
| FMC1-LUC7L2 Knockout HCT 116 Cell Line | EDJ-KQ77814 | Human | 100996928 | Details Get a Quote |
