1. Gene
  2. SLX1B - SLX1 homolog B, structure-specific endonuclease subunit Gene

SLX1B - SLX1 homolog B, structure-specific endonuclease subunit Gene

Homo sapiens

Also known as GIYD2

Gene ID: 79008 | Gene type: protein coding

About SLX1B

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:29,454,533-29,458,220 (from NCBI)

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 Reference 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 Reference Source
part of Slx1-Slx4 complex IDA
IDA: Inferred from direct assay
19595721 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLX1B Protein Structure

GIY-YIG

GIY-YIG: GIY-YIG catalytic domain (15 - 88)

  • 0
  • 100
  • 200
  • 275 a.a.
Protein Preferred Names Protein Names

structure-specific endonuclease subunit SLX1

GIY-YIG domain-containing protein 1

Related Diseases

Diseases Alias
Interstitial Nephritis, Karyomegalic

Karyomegalic Interstitial Nephritis

KMIN

Kin

Systemic Karyomegaly

Karyomegalic Tubulointerstitial Nephritis

Ktn

Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum

XPV

Xeroderma Pigmentosum Variant Type

Xeroderma Pigmentosum With Normal Dna Repair Rates

Photosensitivity With Defective Dna Synthesis

Xp

De Sanctis-Cacchione Syndrome

Desanctis-Cacchione Syndrome

Xeroderma Pigmentosa

Xerodermic Idiocy

Xeroderma Pigmentosum Variant

Xp - [Xeroderma Pigmentosum]

Atrophoderma Pigmentosum

Xeroderma Pigmentosum, Complementation Group F

Xeroderma Pigmentosum, Group F

Xeroderma Pigmentosum Vi

Xp6

Xeroderma Pigmentosum, Type F/Cockayne Syndrome

XPF

Xp, Group F

Xeroderma Pigmentosum Group F

Xp Group F

Xeroderma Pigmentosum, Type 6

Xeroderma Pigmentosum Complementation Group F

XP-F

Xeroderma Pigmentosum Type F/Cockayne Syndrome

XPF/CS

Xeroderma Pigmentosum, Complementation Group G

Xeroderma Pigmentosum, Group G

Xeroderma Pigmentosum Vii

Xp7

XPG

Xeroderma Pigmentosum Group G

Xp Group G

Xp, Group G

Xpgc

Xeroderma Pigmentosum, Group G/Cockayne Syndrome

Xeroderma Pigmentosum, Type 7

Xeroderma Pigmentosum Complementation Group G

XP-G

Xp-G/Cs

Xeroderma Pigmentosum Group G/Cockayne Syndrome

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus SLX1B MGD MGI:1915220