2. Gene
  3. KLHL7 - kelch like family member 7 Gene

KLHL7 - kelch like family member 7 Gene

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

中文名称：kelch 样家族成员 7

种属: Homo sapiens

同用名: CISS3; KLHL6; SBBI26; PERCHING

基因 ID: 55975 | 基因类型: protein coding

关于 KLHL7

Cytogenetic location: 7p15.3 Genomic coordinates (GRCh38): 7:23,105,785-23,177,914 (from NCBI)

This gene has 13 transcripts (splice variants), 231 orthologues, 54 paralogues and is associated with 10 phenotypes. Broad expression in heart (RPKM 18.6), testis (RPKM 12.2) and 24 other tissues.

功能概要

该基因编码 BTB-Kelch 相关蛋白。编码的蛋白质可能参与蛋白质降解。该基因的突变与视网膜色素变性 42 有关。[RefSeq 提供，2010 年 2 月]

This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010]

KLHL7 基因产物(3)

mRNA Protein Name
NM_001031710.3 NP_001026880.2 kelch-like protein 7 isoform 1
NM_001172428.2 NP_001165899.1 kelch-like protein 7 isoform 3
NM_018846.5 NP_061334.4 kelch-like protein 7 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 identical protein binding IPI
IPI: 通过物理相互作用推断
21828050 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21145461 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
21828050 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein ubiquitination IDA
IDA: 通过直接分析推断
21828050 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of Cul3-RING ubiquitin ligase complex IDA
IDA: 通过直接分析推断
21828050 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
27392078 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

KLHL7 蛋白结构

BTB

BTB: BTB/POZ domain (34 - 140)

BACK

BACK: BTB And C-terminal Kelch (146 - 248)

Kelch_1

Kelch_1: Kelch motif (371 - 416)

Kelch_1

Kelch_1: Kelch motif (420 - 467)

Kelch_1

Kelch_1: Kelch motif (470 - 515)

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

kelch-like protein 7

kelch-like 6

KLHL7 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
KLHL7 Q8IXQ5 CUL3 Homo sapiens Q13618
Anti Tag CoIP
21828050
种属内
KLHL7 Q8IXQ5 CUL3 Homo sapiens Q13618
IF
21828050
种属内
KLHL7 Q8IXQ5 CUL3 Homo sapiens Q13618
Anti Tag CoIP
30190310
种属内
KLHL7 Q8IXQ5 KLHL7 Homo sapiens Q8IXQ5
IF
21828050
种属内
KLHL7 Q8IXQ5 KLHL7 Homo sapiens Q8IXQ5
Anti Tag CoIP
21828050
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
Retinitis Pigmentosa 42

RP42

Retinitis Pigmentosa-42

Retinitis Pigmentosa, Type 42
Perching Syndrome

PERCHING

Crisponi/Cold-Induced Sweating Syndrome 3, Formerly

Ciss3, Formerly

Ciss3

Crisponi/Cold-Induced Sweating Syndrome 3
Cold-Induced Sweating Syndrome 3
Klhl7-Related Bohring-Opitz-Like/Cold-Induced Sweating-Like Overlap Syndrome

Perching Syndrome
Klhl7-Related Bohring-Opitz-Like Syndrome

Klhl7-Related Bos-Like Syndrome
Klhl7-Related Cold-Induced Sweating-Like Syndrome

Klhl7-Related Crisponi-Like Syndrome
Bohring-Opitz Syndrome

C-Like Syndrome

Bohring Syndrome

Opitz Trigonocephaly-Like Syndrome

BOPS

Oberklaid-Danks Syndrome

Bos

Bos Syndrome
Crisponi/Cold-Induced Sweating Syndrome 1

Crisponi Syndrome

Cold-Induced Sweating Syndrome 1

CISS1

Sohar-Crisponi Syndrome

Muscle Contractions, Tetanoform, With Characteristic Face, Camptodactyly, Hyperthermia, And Sudden Death

Muscle Contractions Tetanoform With Characteristic Face Camptodactyly Hyperthermia And Sudden Death
Cold-Induced Sweating Syndrome

Crisponi Syndrome

Sohar-Crisponi Syndrome

Ciss

Cntf Receptor-Related Disorders

Muscle Contractions, Tetanoform, With Characteristic Face, Camptodactyly, Hyperthermia, And Sudden Death

Sweating Syndrome, Cold-Induced
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
Retinitis
Distal Arthrogryposis

Arthrogryposis Multiplex Congenita

Arthrogryposis

Congenital Multiple Arthrogryposis

Congenital Arthromyodysplasia

Fibrous Ankylosis Of Multiple Joints

Guerin-Stern Syndrome

Guérin-Stern Syndrome

Myodystrophia Fetalis Deformans

Otto Syndrome

Rocher-Sheldon Syndrome

Rossi Syndrome

Amc

Multiple Congenital Arthrogryposis

Arthrogryposis Syndrome

Arthrogryposis, Distal

Distal Arthrogryposis Syndrome

Freeman-Sheldon Syndrome

Arthrogryposis, Distal, Type 2b

Congenital Multiplex Arthrogryposis

Amyoplasia Congenita

Congenital Amyoplasia

Amc - [Arthrogryposis Multiplex Congenita]
Developmental And Epileptic Encephalopathy 11

Epileptic Encephalopathy, Early Infantile, 11

DEE11

Eiee11

Developmental And Epileptic Encephalopathy, 11

Early Infantile Epileptic Encephalopathy 11

Encephalopathy, Developmental And Epileptic, Type 11
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay

CLIFAHDD

Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome

Clifahdd Syndrome

Doid:0081048

Contractures, Limbs And Face, Congenital, Hypotonia, And Developmental Delay
Retinitis Pigmentosa 31

RP31

Retinitis Pigmentosa-31

Retinitis Pigmentosa, Type 31
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-RS07371 KLHL7 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus KLHL7 RGD RGD:1305564
Mus musculus KLHL7 MGD MGI:1196453
Canis familiaris KLHL7 VGNC VGNC:42476
Felis catus KLHL7 VGNC VGNC:63158
Bos taurus KLHL7 VGNC VGNC:107227
Macaca mulatta KLHL7 VGNC VGNC:74050
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