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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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LUC7L
LUC7 like
Chromosome 16 · 16p13.3
NCBI Gene: 55692Ensembl: ENSG00000007392.17HGNC: HGNC:6723UniProt: A8MYV2
119PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
identical protein bindingprotein bindingmRNA bindingU1 snRNPAlpha-thalassemiaduodenal ulcerGriscelli diseaseGriscelli disease type 3
✦AI Summary

LUC7L is a widely expressed RNA-binding protein that plays a critical role in pre-mRNA splicing through its function as a component of the U1 small nuclear ribonucleoprotein (snRNP) complex 1. The protein is homologous to the yeast Luc7p subunit and is normally required for 5' splice site selection 1. LUC7L belongs to a family of three human paralogs (LUC7L, LUC7L2, and LUC7L3) that differentially regulate two major classes of 5' splice sites, with LUC7L enhancing splicing of "right-handed" splice sites that have stronger consensus matching on the intron side of the invariant GU dinucleotide 2. The protein contains zinc finger domains that are functionally important for splice site recognition, with the second zinc finger domain specifically involved in splice site selection and showing different ATPase requirements for release by Prp28 during the splicing process 3. Evolutionary analysis indicates that LUC7 protein regulation of splice sites is highly conserved across species, with the LUC7L subfamily having evolved before the animal-plant split 2. The gene is located at the centromeric boundary of the human alpha-globin domain on chromosome 16.3 and has been implicated in various disease contexts, including prostate cancer drug resistance through its involvement in RNA splicing pathways 4.

Sources cited
1
LUC7L is widely expressed, homologous to yeast Luc7p, and required for 5' splice site selection
PMID: 11170747
2
LUC7L belongs to a family that differentially regulates splice sites and enhances 'right-handed' 5' splice sites
PMID: 39979239
3
The second zinc finger domain is involved in splice site selection with specific ATPase requirements
PMID: 38719745
4
LUC7L is implicated in prostate cancer drug resistance through RNA splicing pathways
PMID: 37143720
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
Alpha-thalassemiaOpen Targets
0.33Weak
duodenal ulcerOpen Targets
0.09Suggestive
Griscelli diseaseOpen Targets
0.07Suggestive
Griscelli disease type 3Open Targets
0.06Suggestive
Griscelli syndrome type 3Open Targets
0.06Suggestive
uncombable hair syndromeOpen Targets
0.05Suggestive
oculocutaneous albinism type 3Open Targets
0.05Suggestive
Iron deficiency anemiaOpen Targets
0.04Suggestive
Griscelli disease type 1Open Targets
0.04Suggestive
Griscelli syndrome type 1Open Targets
0.04Suggestive
Microcephaly - albinism - digital anomaliesOpen Targets
0.04Suggestive
microcephaly-albinism-digital anomalies syndromeOpen Targets
0.04Suggestive
hepatorenocardiac degenerative fibrosisOpen Targets
0.04Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.04Suggestive
Senior-Boichis syndromeOpen Targets
0.04Suggestive
Tietz syndromeOpen Targets
0.04Suggestive
Tietze syndromeOpen Targets
0.04Suggestive
ermine phenotypeOpen Targets
0.04Suggestive
isolated familial wooly hair disorderOpen Targets
0.04Suggestive
Woolly hairOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KHDC4Shared pathway100%SF3B3Protein interaction100%SART1Protein interaction100%SNRPGProtein interaction100%SF3A2Protein interaction100%SNRPA1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
93%
Liver
62%
Lung
55%
Heart
30%
Brain
24%
Gene Interaction Network
Click a node to explore
LUC7LKHDC4SF3B3SART1SNRPGSF3A2SNRPA1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q1W6G4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.82LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.60 [0.44–0.82]
RankingsWhere LUC7L stands among ~20K protein-coding genes
  • #3,966of 20,598
    Most Researched119 · top quartile
  • #6,961of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedLUC7L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of bicalutamide resistance-related genes and prognosis prediction in patients with prostate cancer.
PMID: 37143720
Front Endocrinol (Lausanne) · 2023
1.00
2
Conserved role for spliceosomal component PRPF40A in microexon splicing.
PMID: 39389624
RNA · 2024
0.90
3
Characterization of a widely expressed gene (LUC7-LIKE; LUC7L) defining the centromeric boundary of the human alpha-globin domain.
PMID: 11170747
Genomics · 2001
0.80
4
LUC7 proteins define two major classes of 5' splice sites in animals and plants.
PMID: 39979239
Nat Commun · 2025
0.70
5
Circ-Luc7l Absence Attenuates Diabetic Nephropathy Progression by Reducing Mesangial Cell Excessive Proliferation, Inflammation, and Extracellular Matrix Accumulation via Mediating the miR-205-5p/Tgfbr1 Pathway.
PMID: 38376578
Biochem Genet · 2024
0.60