1. Gene
  2. DCLRE1B - DNA cross-link repair 1B Gene

DCLRE1B - DNA cross-link repair 1B Gene

中文名称:DNA 交联修复 1B

种属: Homo sapiens

同用名: DKCB8; SNM1B; SNMIB; APOLLO

基因 ID: 64858 | 基因类型: protein coding

关于 DCLRE1B

Cytogenetic location: 1p13.2 Genomic coordinates (GRCh38): 1:113,904,619-113,914,086 (from NCBI)

This gene has 6 transcripts (splice variants), 197 orthologues and 2 paralogues. Ubiquitous expression in bone marrow (RPKM 3.3), appendix (RPKM 3.2) and 25 other tissues.

功能概要

DNA 链间交联可防止链分离,从而物理阻断 DNA 的转录、复制和分离。 DCLRE1B 是参与修复链间交联的几个进化保守基因之一 (Dronkert 等人,2000 [PubMed 10848582]) 。[OMIM 提供,2008 年 3 月]

DNA interstrand cross-links prevent strand separation, thereby physically blocking transcription, replication, and segregation of DNA. DCLRE1B is one of several evolutionarily conserved genes involved in repair of interstrand cross-links (Dronkert et al., 2000 [PubMed 10848582]).[supplied by OMIM, Mar 2008]

DCLRE1B 基因产物(5)

mRNA Protein Name
NM_001319946.2 NP_001306875.1 5' exonuclease Apollo isoform b
NM_001319947.2 NP_001306876.1 5' exonuclease Apollo isoform b
NM_001363690.2 NP_001350619.1 5' exonuclease Apollo isoform c
NM_001363691.2 NP_001350620.1 5' exonuclease Apollo isoform d
NM_022836.4 NP_073747.1 5' exonuclease Apollo isoform a

DCLRE1B 蛋白结构

Lactamase_B_2

Lactamase_B_2: Beta-lactamase superfamily domain (23 - 148)

DRMBL

DRMBL: DNA repair metallo-beta-lactamase (217 - 299)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 532 a.a.
蛋白主名 其他名称

5' exonuclease Apollo

DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)

关联疾病

疾病名称 别名
Hoyeraal Hreidarsson Syndrome

Hoyeraal-Hreidarsson Syndrome

Progressive Pancytopenia-Immunodeficiency-Cerebellar Hypoplasia Syndrome

Cerebellar Hypoplasia With Pancytopenia

Growth Retardation Prenatal With Progressive Pancytopenia And Cerebellar Hypoplasia

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

Cerebellar Hypoplasia
Interstitial Nephritis, Karyomegalic

Karyomegalic Interstitial Nephritis

KMIN

Kin

Systemic Karyomegaly

Karyomegalic Tubulointerstitial Nephritis

Ktn

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

Adenosine Deaminase Deficiency

Ada Deficiency

Ada-Scid

Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency

Adenosine Deaminase Deficient Severe Combined Immunodeficiency

Scid Due To Ada Deficiency

Severe Combined Immunodeficiency Due To Ada Deficiency

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency

Ada

Scid Due To Adenosine Deaminase Deficiency

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus DCLRE1B VGNC VGNC:27917
Canis familiaris DCLRE1B VGNC VGNC:39807
Mus musculus DCLRE1B MGD MGI:2156057
Rattus norvegicus DCLRE1B RGD RGD:1310343
Macaca mulatta DCLRE1B VGNC VGNC:71647