SLX4 - SLX4 structure-specific endonuclease subunit Gene

Also Known as FANCP; BTBD12; MUS312

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84464

About SLX4

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:3,581,181-3,611,606 (from NCBI)

This gene has 5 transcripts (splice variants), 208 orthologues and is associated with 4 phenotypes. Broad expression in testis (RPKM 5.9), lymph node (RPKM 2.0) and 22 other tissues.

Summary

This gene encodes a protein that functions as an assembly component of multiple structure-specific endonucleases. These Endonuclease complexes are required for repair of specific types of DNA lesions and critical for cellular responses to replication fork failure. Mutations in this gene were found in patients with Fanconi anemia. [provided by RefSeq, Sep 2016]

SLX4 Products (1)

mRNA	Protein	Name
NM_032444.4	NP_115820.2	structure-specific endonuclease subunit SLX4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables enzyme activator activity	IDA IDA: Inferred from direct assay	19596235	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	19595722	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 nucleotide-excision repair	IMP IMP: Inferred from mutant phenotype	19596236	GOA
involved in positive regulation of telomere maintenance	IDA IDA: Inferred from direct assay	24012755	GOA
acts upstream of or within response to intra-S DNA damage checkpoint signaling	IMP IMP: Inferred from mutant phenotype	23361013	GOA
involved in t-circle formation	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 ERCC4-ERCC1 complex	IDA IDA: Inferred from direct assay	19595721	GOA
part of Holliday junction resolvase complex	IDA IDA: Inferred from direct assay	19595721	GOA
part of Slx1-Slx4 complex	IDA IDA: Inferred from direct assay	19595721	GOA
located in chromatin	IDA IDA: Inferred from direct assay	19596235	GOA
colocalizes with chromosome, telomeric region	IDA IDA: Inferred from direct assay	19596235	GOA
located in chromosome, telomeric region	IDA IDA: Inferred from direct assay	24012755	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

SLX4 Protein Structure

BTB

Slx4

0
300
600
900
1200
1500
1834 a.a.

Protein Preferred Names	Protein Names
structure-specific endonuclease subunit SLX4	BTB/POZ domain-containing protein 12

SLX4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SLX4	Q8IY92	ERCC4	Homo sapiens	Q92889	Anti Bait CoIP	19596235
Intra	SLX4	Q8IY92	ERCC4	Homo sapiens	Q92889	Anti Tag CoIP	19596235
Intra	SLX4	Q8IY92	ERCC4	Homo sapiens	Q92889	Anti Tag CoIP	19596236
Intra	SLX4	Q8IY92	MUS81	Homo sapiens	Q96NY9	Anti Tag CoIP	19596235
Intra	SLX4	Q8IY92	MUS81	Homo sapiens	Q96NY9	Validated Y2H	32296183
Intra	SLX4	Q8IY92	MUS81	Homo sapiens	Q96NY9	Anti Bait CoIP	19596235
Intra	SLX4	Q8IY92	EME1	Homo sapiens	Q96AY2	Anti Tag CoIP	19596235
Intra	SLX4	Q8IY92	EME1	Homo sapiens	Q96AY2	Anti Tag CoIP	19596236
Intra	SLX4	Q8IY92	SLX1A	Homo sapiens	Q9BQ83	Anti Tag CoIP	19596235
Intra	SLX4	Q8IY92	SLX1A	Homo sapiens	Q9BQ83	Y2H	19596235
Intra	SLX4	Q8IY92	SLX1A	Homo sapiens	Q9BQ83	Anti Tag CoIP	19596236
Intra	SLX4	Q8IY92	SLX4IP	Homo sapiens	Q5VYV7	Anti Tag CoIP	19596235
Intra	SLX4	Q8IY92	MSH2	Homo sapiens	P43246	Anti Tag CoIP	19596235
Intra	SLX4	Q8IY92	MSH2	Homo sapiens	P43246	Anti Bait CoIP	19596235
Intra	SLX4	Q8IY92	PLK1	Homo sapiens	P53350	Anti Bait CoIP	19596235
Intra	SLX4	Q8IY92	PLK1	Homo sapiens	P53350	Anti Tag CoIP	19596235
Intra	SLX4	Q8IY92	TERF2	Homo sapiens	Q15554	Anti Bait CoIP	19596235
Intra	SLX4	Q8IY92	TERF2	Homo sapiens	Q15554	Anti Tag CoIP	19596236
Intra	SLX4	Q8IY92	TERF2	Homo sapiens	Q15554	Anti Tag CoIP	19596235
Intra	SLX4	Q8IY92	TERF2IP	Homo sapiens	Q9NYB0	Anti Bait CoIP	19596235
Intra	SLX4	Q8IY92	TERF2IP	Homo sapiens	Q9NYB0	Anti Tag CoIP	19596235
Intra	SLX4	Q8IY92	ERCC1	Homo sapiens	P07992	Anti Tag CoIP	19596236
Intra	SLX4	Q8IY92	ERCC1	Homo sapiens	P07992	Anti Tag CoIP	19596235

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Fanconi Anemia, Complementation Group P	Fanconi Anemia Complementation Group P FANCP
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
Papillary Adenofibroma
Fanconi Anemia, Complementation Group V	Fanconi Anemia Complementation Group V FANCV
Fanconi Anemia, Complementation Group R	Fanconi Anemia Complementation Group R FANCR
Fanconi Anemia, Complementation Group Q	Fanconi Anemia Complementation Group Q FANCQ
Xfe Progeroid Syndrome	Xpf-Ercc1 Progeroid Syndrome XFEPS
Fanconi Anemia, Complementation Group O	Fanconi Anemia Complementation Group O FANCO
Interstitial Nephritis, Karyomegalic	Karyomegalic Interstitial Nephritis KMIN Kin Systemic Karyomegaly Karyomegalic Tubulointerstitial Nephritis Ktn
Glioblastoma	Glioblastoma Multiforme Gbm Adult Glioblastoma Multiforme Grade Iv Adult Astrocytic Tumor Primary Glioblastoma Multiforme Spongioblastoma Multiforme Adult Glioblastoma Primary Glioblastoma
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
Fanconi Anemia, Complementation Group D1	Fanconi Anemia Complementation Group D1 FANCD1 Fad1 Inherited Cancer-Predisposing Syndrome Due To Biallelic Brca2 Mutations
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
Cerebrooculofacioskeletal Syndrome	Cerebro-Oculo-Facio-Skeletal Syndrome Cofs Syndrome Pena-Shokeir Syndrome Type 2 Pena Shokeir Syndrome Type 2
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
Physical Disorder	Physical Illness
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
Dyskeratosis Congenita	Dyskeratosis Congenita Autosomal Dominant Dc Dkc Zinsser-Engman-Cole Syndrome Dyskeratosis Congenita, Autosomal Dominant Autosomal Dominant Dyskeratosis Congenita Dkca Dyskeratosis Congenita Scoggins Type Zinsser-Cole-Engman Syndrome X-Linked Dyskeratosis Congenita Hoyeraal-Hreidarsson Syndrome
Hereditary Breast Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer Breast And/Or Ovarian Cancer Breast And Ovarian Cancer Syndrome Hboc Syndrome Hereditary Breast And Ovarian Cancer Brca1- Brca2-Associated Hboc
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Lynch Syndrome	Hereditary Nonpolyposis Colon Cancer Hereditary Nonpolyposis Colorectal Cancer Hereditary Nonpolyposis Colorectal Carcinoma Hereditary Nonpolyposis Colorectal Neoplasms Familial Nonpolyposis Colon Cancer Hnpcc Coca 1 Hereditary Defective Mismatch Repair Syndrome Hereditary Non-Polyposis Colon Cancer Hereditary Non-Polyposis Colon Cancer Syndrome Hereditary Non-Polyposis Colorectal Cancer Hereditary Non-Polyposis Colorectal Cancer Syndrome Hereditary Nonpolyposis Colon Cancer Syndrome Hereditary Nonpolyposis Colorectal Cancer Syndrome Hereditary Nonpolyposis Colorectal Neoplasm Hnpcc - Hereditary Nonpolyposis Colon Cancer Cancer Family Syndrome Familial Nonpolyposis Colorectal Cancer Colon Cancer, Familial Nonpolyposis Colorectal Neoplasms, Hereditary Nonpolyposis Cancer, Colorectal, Nonpolyposis, Hereditary Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13389	SLX4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS13390	SLX4IP Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SLX4	VGNC	VGNC:99590
Bos taurus	SLX4	VGNC	VGNC:34973
Rattus norvegicus	SLX4	RGD	RGD:1566009
Mus musculus	SLX4	MGD	MGI:106299
Canis familiaris	SLX4	VGNC	VGNC:46517
Felis catus	SLX4	VGNC	VGNC:65458
Others	SLX4	NCBI