1. Gene
  2. REC8 - REC8 meiotic recombination protein Gene

REC8 - REC8 meiotic recombination protein Gene

中文名称:REC8 减数分裂重组蛋白

种属: Homo sapiens

同用名: Rec8p; REC8L1; HR21spB

基因 ID: 9985 | 基因类型: protein coding

关于 REC8

Cytogenetic location: 14q12 Genomic coordinates (GRCh38): 14:24,172,080-24,180,923 (from NCBI)

This gene has 13 transcripts (splice variants), 1 gene allele, 158 orthologues and 2 paralogues. Broad expression in gall bladder (RPKM 12.4), testis (RPKM 11.2) and 23 other tissues.

功能概要

该基因编码 SMC (染色体结构维护) 蛋白伙伴的 kleisin 家族成员。在卵母细胞和精母细胞的减数分裂过程中,该蛋白质定位于染色体的轴向元件。在小鼠中,同源蛋白是减数分裂凝聚复合物的关键成分,它调节姐妹染色单体的凝聚和同源染色体之间的重组。已发现该基因的多个选择性剪接变体,编码相同的蛋白质。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the kleisin family of SMC (structural maintenance of chromosome) protein partners. The protein localizes to the axial elements of chromosomes during meiosis in both oocytes and spermatocytes. In the mouse, the homologous protein is a key component of the meiotic cohesion complex, which regulates sister chromatid cohesion and recombination between homologous chromosomes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]

REC8 基因产物(2)

mRNA Protein Name
NM_001048205.2 NP_001041670.1 meiotic recombination protein REC8 homolog
NM_005132.3 NP_005123.2 meiotic recombination protein REC8 homolog
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
24981860 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

REC8 蛋白结构

Rad21_Rec8_N

Rad21_Rec8_N: N terminus of Rad21 / Rec8 like protein (1 - 111)

Rad21_Rec8

Rad21_Rec8: Conserved region of Rad21 / Rec8 like protein (492 - 545)

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

meiotic recombination protein REC8 homolog

REC8 homolog

REC8 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
REC8 O95072 BAG2 Homo sapiens O95816 25036637
种属内
REC8 O95072 BAG2 Homo sapiens O95816
TAP
24981860
种属内
REC8 O95072 STUB1 Homo sapiens Q9UNE7
TAP
24981860
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos

Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

Hereditary Spastic Paraplegia 56

Autosomal Recessive Spastic Paraplegia Type 56

Spg56

Autosomal Recessive Spastic Paraplegia 56

46 Xx Gonadal Dysgenesis

Ovarian Dysgenesis

Gonadal Dysgenesis, 46,Xx

Dysgenesis, Ovarian

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
Canis familiaris REC8 VGNC VGNC:45456
Rattus norvegicus REC8 RGD RGD:1309376
Mus musculus REC8 MGD MGI:1929645
Felis catus REC8 VGNC VGNC:64560
Macaca mulatta REC8 VGNC VGNC:76746
Bos taurus REC8 VGNC VGNC:33846