1. Gene
  2. SLX4 - SLX4 structure-specific endonuclease subunit Gene

SLX4 - SLX4 structure-specific endonuclease subunit Gene

Homo sapiens

Also known as FANCP; BTBD12; MUS312

Gene ID: 84464 | Gene type: protein coding

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 Reference 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 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
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 Reference 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

BTB: BTB/POZ domain (685 - 788)

Slx4

Slx4: Slx4 endonuclease (1753 - 1810)

  • 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 Reference
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

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