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

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

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：SLX1 同系物 B，结构特异性核酸内切酶亚基

种属: Homo sapiens

同用名: GIYD2

基因 ID: 79008 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是基因组稳定性的重要调节因子。该蛋白质代表 SLX1-SLX4 结构特异性核酸内切酶的催化亚基，可解析修复和重组过程中形成的 DNA 二级结构。由于片段重复，该基因的两个相同拷贝位于 16 号染色体的 p 臂上；该记录代表更多的端粒拷贝。可变剪接导致多个转录本变体。通读转录也发生在该基因和下游 SULT1A4 (磺基转移酶家族，细胞溶质，1A，苯酚偏好，成员 4) 基因之间。[RefSeq 提供，2010 年 11 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables 5'-flap endonuclease activity IDA
IDA: 通过直接分析推断
19596235 GOA
enables crossover junction DNA endonuclease activity IDA
IDA: 通过直接分析推断
19595721 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19595721 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA double-strand break processing involved in repair via single-strand annealing IMP
IMP: 通过突变表型推断
19595721 GOA
involved in DNA repair IMP
IMP: 通过突变表型推断
19595721 GOA
involved in double-strand break repair via homologous recombination IMP
IMP: 通过突变表型推断
19595721 GOA
involved in negative regulation of telomere maintenance via telomere lengthening IMP
IMP: 通过突变表型推断
24012755 GOA
involved in t-circle formation IMP
IMP: 通过突变表型推断
24012755 GOA
involved in telomere maintenance via telomere lengthening IMP
IMP: 通过突变表型推断
24012755 GOA
involved in telomeric D-loop disassembly IMP
IMP: 通过突变表型推断
24012755 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of Slx1-Slx4 complex IDA
IDA: 通过直接分析推断
19595721 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SLX1B 蛋白结构

GIY-YIG

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

  • 0
  • 100
  • 200
  • 275 a.a.
蛋白主名 其他名称

structure-specific endonuclease subunit SLX1

GIY-YIG domain-containing protein 1

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS13388 SLX1B Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus SLX1B MGD MGI:1915220
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