SLX1B - SLX1 homolog B, structure-specific endonuclease subunit Gene
Also Known as GIYD2
Species: Homo sapiens
About SLX1B
This gene has 5 transcripts (splice variants), 177 orthologues and 1 paralogue. Ubiquitous expression in duodenum (RPKM 33.7), small intestine (RPKM 28.9) and 24 other tissues.
Summary
This gene encodes a protein that is an important regulator of genome stability. The protein represents the catalytic subunit of the SLX1-SLX4 structure-specific Endonuclease, which can resolve DNA secondary structures that are formed during repair and recombination processes. Two identical copies of this gene are located on the p arm of chromosome 16 due to a segmental duplication; this record represents the more telomeric copy. Alternative splicing results in multiple transcript variants. Read-through transcription also occurs between this gene and the downstream SULT1A4 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4) gene. [provided by RefSeq, Nov 2010]
SLX1B Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001400286.1 | NP_001387215.1 | structure-specific endonuclease subunit SLX1 isoform 3 |
| NM_001400287.1 | NP_001387216.1 | structure-specific endonuclease subunit SLX1 isoform 4 |
| NM_024044.5 | NP_076949.1 | structure-specific endonuclease subunit SLX1 isoform 1 |
| NM_178044.4 | NP_835145.1 | structure-specific endonuclease subunit SLX1 isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables 5'-flap endonuclease activity |
IDA
IDA: Inferred from direct assay
|
19596235 | GOA |
| enables crossover junction DNA endonuclease activity |
IDA
IDA: Inferred from direct assay
|
19595721 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
19595721 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in DNA double-strand break processing involved in repair via single-strand annealing |
IMP
IMP: Inferred from mutant phenotype
|
19595721 | GOA |
| involved in DNA repair |
IMP
IMP: Inferred from mutant phenotype
|
19595721 | GOA |
| involved in double-strand break repair via homologous recombination |
IMP
IMP: Inferred from mutant phenotype
|
19595721 | GOA |
| involved in negative regulation of telomere maintenance via telomere lengthening |
IMP
IMP: Inferred from mutant phenotype
|
24012755 | GOA |
| involved in t-circle formation |
IMP
IMP: Inferred from mutant phenotype
|
24012755 | GOA |
| involved in telomere maintenance via telomere lengthening |
IMP
IMP: Inferred from mutant phenotype
|
24012755 | GOA |
| involved in telomeric D-loop disassembly |
IMP
IMP: Inferred from mutant phenotype
|
24012755 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of Slx1-Slx4 complex |
IDA
IDA: Inferred from direct assay
|
19595721 | GOA |
SLX1B Protein Structure
GIY-YIG: GIY-YIG catalytic domain (15 - 88)
- 0
- 100
- 200
- 275 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
structure-specific endonuclease subunit SLX1 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Interstitial Nephritis, Karyomegalic |
|
|
| Xeroderma Pigmentosum, Variant Type |
|
|
| Xeroderma Pigmentosum, Complementation Group F |
|
|
| Xeroderma Pigmentosum, Complementation Group G |
|
|
| Fanconi Anemia, Complementation Group A |
|
|
| Aplastic Anemia |
|
|