ARL6IP4
ADP Ribosylation Factor Like GTPase 6 Interacting Protein 4
Gene Information Card
| Symbol | ARL6IP4 |
|---|---|
| Full Name | ADP Ribosylation Factor Like GTPase 6 Interacting Protein 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 51329 ncbi.nlm.nih.gov/gene/51329 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q9Y3B4 |
| OMIM ID | 611225 |
| HGNC ID | 24038 |
| Aliases | SR-25, SFRS25, ARL-6IP4, FLJ10656 |
Description
ARL6IP4 encodes a protein that interacts with ADP-ribosylation factor-like 6 (ARL6) and is involved in pre-mRNA splicing as a component of the spliceosome. The protein localizes to nuclear speckles and may play a role in RNA processing and cellular stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.5 | Medium |
| Lung | 6.2 | Low |
| Liver | 4.1 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.5 | Moderate expression |
| HeLa | 8.9 | Moderate expression |
| K562 | 6.7 | Low expression |
| HepG2 | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% in gnomAD | Unknown functional effect |
| c.544G>A (p.Gly182Arg) | Missense | <0.01% in gnomAD | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Not established
Gain of Function (GOF)
Not established
Dominant Negative (DN)
Not established
View complete mutation data：
Gene Ontology (GO)
| • RNA splicing (GO:0008380) | • mRNA processing (GO:0006397) |
| • spliceosomal complex (GO:0005681) | • nucleus (GO:0005634) |
| • protein binding (GO:0005515) |
Pathways
• mRNA Splicing - Major Pathway (Reactome: R-HSA-72163)
• Processing of Capped Intron-Containing Pre-mRNA (Reactome: R-HSA-72203)
Protein Summary
ARL6IP4 is a 25 kDa protein (SR-25) that contains an arginine/serine-rich (RS) domain characteristic of splicing factors. It interacts with ARL6 and is a component of the U2-dependent spliceosome. The protein is predominantly nuclear and may regulate alternative splicing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARL6IP4 Knockout HEK293 Cell Line | EDJ-KQ51307 | Human | 51329 | Details Get a Quote |
| ARL6IP4 Knockout HeLa Cell Line | EDJ-KQ56287 | Human | 51329 | Details Get a Quote |
| ARL6IP4 Knockout A-549 Cell Line | EDJ-KQ64775 | Human | 51329 | Details Get a Quote |
| ARL6IP4 Knockout HCT 116 Cell Line | EDJ-KQ73224 | Human | 51329 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
