1. Gene
  2. ASB7 - ankyrin repeat and SOCS box containing 7 Gene

ASB7 - ankyrin repeat and SOCS box containing 7 Gene

中文名称:含锚蛋白重复和 SOCS 框 7

种属: Homo sapiens

基因 ID: 140460 | 基因类型: protein coding

关于 ASB7

Cytogenetic location: 15q26.3 Genomic coordinates (GRCh38): 15:100,602,589-100,651,701 (from NCBI)

This gene has 4 transcripts (splice variants), 208 orthologues and 3 paralogues. Ubiquitous expression in testis (RPKM 4.8), thyroid (RPKM 4.2) and 25 other tissues.

功能概要

由该基因编码的蛋白质属于锚蛋白重复蛋白家族,该家族与其他四个蛋白质家族一起包含一个 C 端 SOCS 盒基序。越来越多的证据表明,SOCS 盒充当特定底物结合域与包含 E3 泛素蛋白连接酶大家族的更通用蛋白质之间的桥梁。这样,含有蛋白质的 SOCS 盒可以通过靶向蛋白质进行多聚泛素化来调节蛋白质周转,从而调节蛋白酶体介导的降解。已经描述了编码不同亚型的两种替代转录本。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four Other protein families, contains a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. In this way, SOCS box containing proteins may regulate protein turnover by targeting proteins for polyubiquination and, therefore, for proteasome-mediated degradation. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

ASB7 基因产物(2)

mRNA Protein Name
NM_024708.4 NP_078984.2 ankyrin repeat and SOCS box protein 7 isoform 1
NM_198243.3 NP_937886.1 ankyrin repeat and SOCS box protein 7 isoform 2

ASB7 蛋白结构

Ank_2

Ank_2: Ankyrin repeats (3 copies) (18 - 77)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (85 - 180)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (184 - 256)

SOCS_box

SOCS_box: SOCS box (275 - 314)

  • 0
  • 100
  • 200
  • 300
  • 318 a.a.
蛋白主名 其他名称

ankyrin repeat and SOCS box protein 7

ASB-7

ASB7 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
ASB7 Q9H672 CCDC136 Homo sapiens Q96JN2-2 25416956
种属内
ASB7 Q9H672 CCDC136 Homo sapiens Q96JN2-2 28514442
种属内
ASB7 Q9H672 CUL5 Homo sapiens Q93034 16325183
种属内
ASB7 Q9H672 CUL5 Homo sapiens Q93034 28514442
种属内
ASB7 Q9H672 CUL5 Homo sapiens Q93034 33961781
种属内
ASB7 Q9H672 HMBOX1 Homo sapiens Q6NT76 25416956
种属内
ASB7 Q9H672 HMBOX1 Homo sapiens Q6NT76 33961781
种属内
ASB7 Q9H672 HMBOX1 Homo sapiens Q6NT76 25416956
种属内
ASB7 Q9H672 RNF7 Homo sapiens Q9UBF6 16325183
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
Lipase Deficiency, Combined

Lipoprotein Lipase Deficiency With Hepatic Triglyceride Lipase Deficiency

Lpl And Htgl Deficiency

Lpl And Hl Deficiency

Familial Lipase Maturation Factor 1 Deficiency

Lipase Deficiency Combined

Combined Lipase Deficiency

Familial Lmf1 Deficiency

CLD

Isolated Microphthalmia
Heinz Body Anemias

Heinz Body Anemia

Heinz Body Anemias, Alpha-

HEIBAN

Anemia, Heinz Body

Acquired Heinz Body Anemia

Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly

Conorenal Syndrome

Saldino-Mainzer Syndrome

SRTD9

Mainzer-Saldino Syndrome

Mzsds

Mainzer-Saldino Disease

Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia, And Skeletal Dysplasia

Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia And Skeletal Dysplasia

Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia And Skeletal Dy

Mainzer Saldino Syndrome

Conorenal Dysplasia

Mainzer-Saldino Chondrodysplasia

Saldino-Mainzer Dysplasia

Short-Rib Thoracic Dysplasia 9

Renal Dysplasia-Retinal Pigmentary Dystrophy-Cerebellar Ataxia-Skeletal Dysplasia Syndrome

Mss

Renal Dysplasia Retinal Pigmentary Dystrophy Cerebellar Ataxia And Skeletal Dysplasia

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
Felis catus ASB7 VGNC VGNC:59963
Canis familiaris ASB7 VGNC VGNC:38167
Bos taurus ASB7 VGNC VGNC:26200
Rattus norvegicus ASB7 RGD RGD:1305154
Mus musculus ASB7 MGD MGI:2152835
Macaca mulatta ASB7 VGNC VGNC:69851