2. Gene
  3. KCTD17 - potassium channel tetramerization domain containing 17 Gene

KCTD17 - potassium channel tetramerization domain containing 17 Gene

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

中文名称：含钾通道四聚结构域 17

种属: Homo sapiens

基因 ID: 79734 | 基因类型: protein coding

关于 KCTD17

Cytogenetic location: 22q12.3 Genomic coordinates (GRCh38): 22:37,051,742-37,063,390 (from NCBI)

This gene has 9 transcripts (splice variants), 194 orthologues, 3 paralogues and is associated with 2 phenotypes. Broad expression in brain (RPKM 11.5), testis (RPKM 10.6) and 22 other tissues.

功能概要

该基因编码的蛋白质属于含有钾通道四聚化结构域 (KCTD) 的蛋白质的保守家族。编码的蛋白质通过充当基于 cullin3 的泛素结合酶 E3 连接酶的底物衔接子在纤毛发生中发挥作用，并靶向角蛋白结合蛋白 trichoplein，通过多聚泛素化降解。该基因的突变与常染色体显性肌阵挛性肌张力障碍 26 有关。[RefSeq 提供，2016 年 11 月]

This gene encodes a protein that belongs to a conserved family of Potassium Channel tetramerization domain (KCTD)-containing proteins. The encoded protein functions in ciliogenesis by acting as a substrate adaptor for the cullin3-based ubiquitin-conjugating Enzyme E3 Ligase, and targets trichoplein, a keratin-binding protein, for degradation via polyubiquitinylation. A mutation in this gene is associated with autosomal dominant myoclonic dystonia 26. [provided by RefSeq, Nov 2016]

KCTD17 基因产物(4)

mRNA Protein Name
NM_001282684.2 NP_001269613.2 BTB/POZ domain-containing protein KCTD17 isoform 1
NM_001282685.2 NP_001269614.2 BTB/POZ domain-containing protein KCTD17 isoform 3
NM_001282686.2 NP_001269615.2 BTB/POZ domain-containing protein KCTD17 isoform 4
NM_024681.4 NP_078957.3 BTB/POZ domain-containing protein KCTD17 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 cullin family protein binding IPI
IPI: 通过物理相互作用推断
25270598 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
enables ubiquitin-like ligase-substrate adaptor activity IDA
IDA: 通过直接分析推断
25270598 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in endoplasmic reticulum calcium ion homeostasis IMP
IMP: 通过突变表型推断
25983243 GOA
involved in positive regulation of cilium assembly IMP
IMP: 通过突变表型推断
25270598 GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process IMP
IMP: 通过突变表型推断
25270598 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
25270598 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
25983243 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

KCTD17 蛋白结构

BTB_2

BTB_2: BTB/POZ domain (33 - 120)

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

BTB/POZ domain-containing protein KCTD17

KCTD17 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
Intra KCTD17 Q8N5Z5 FKBP1A Homo sapiens Q0VDC6
Validated Y2H
32814053
Intra KCTD17 Q8N5Z5 FKBP1A Homo sapiens Q0VDC6
Y2H Array
32814053
Intra KCTD17 Q8N5Z5 FKBP1A Homo sapiens Q0VDC6
Y2H Pooling
32814053
Intra KCTD17 Q8N5Z5 UQCRC1 Homo sapiens P31930
Validated Y2H
32814053
Intra KCTD17 Q8N5Z5 UQCRC1 Homo sapiens P31930
Y2H Pooling
32814053
Intra KCTD17 Q8N5Z5 UQCRC1 Homo sapiens P31930
Y2H Array
32814053
Intra KCTD17 Q8N5Z5 DMWD Homo sapiens G5E9A7
Validated Y2H
32814053
Intra KCTD17 Q8N5Z5 DMWD Homo sapiens G5E9A7
Y2H Array
32814053
Intra KCTD17 Q8N5Z5 DMWD Homo sapiens G5E9A7
Y2H Pooling
32814053
Intra KCTD17 Q8N5Z5 OR51E1 Homo sapiens Q8TCB6
Y2H Array
32296183
Intra KCTD17 Q8N5Z5 OR51E1 Homo sapiens Q8TCB6
Y2H Prey Pooling
32296183
Intra KCTD17 Q8N5Z5 OR51E1 Homo sapiens Q8TCB6
Validated Y2H
32296183
Intra KCTD17 Q8N5Z5 CLSTN1 Homo sapiens O94985-2
Y2H Pooling
32814053
Intra KCTD17 Q8N5Z5 CLSTN1 Homo sapiens O94985-2
Validated Y2H
32814053
Intra KCTD17 Q8N5Z5 CLSTN1 Homo sapiens O94985-2
Y2H Array
32814053
Intra KCTD17 Q8N5Z5 APBB2 Homo sapiens Q92870-2
Validated Y2H
32814053
Intra KCTD17 Q8N5Z5 APBB2 Homo sapiens Q92870-2
Y2H Array
32814053
Intra KCTD17 Q8N5Z5 APBB2 Homo sapiens Q92870-2
Y2H Pooling
32814053
Intra KCTD17 Q8N5Z5 LAMP2 Homo sapiens P13473-2
Validated Y2H
32814053
Intra KCTD17 Q8N5Z5 LAMP2 Homo sapiens P13473-2
Y2H Pooling
32814053
Intra KCTD17 Q8N5Z5 LAMP2 Homo sapiens P13473-2
Y2H Array
32814053
Intra KCTD17 Q8N5Z5 CHAT Homo sapiens P28329-3
Y2H Pooling
32814053
Intra KCTD17 Q8N5Z5 CHAT Homo sapiens P28329-3
Validated Y2H
32814053
Intra KCTD17 Q8N5Z5 CHAT Homo sapiens P28329-3
Y2H Array
32814053
Intra KCTD17 Q8N5Z5 q96bh6_human Homo sapiens Q96BH6
Y2H Array
32814053
Intra KCTD17 Q8N5Z5 q96bh6_human Homo sapiens Q96BH6
Y2H Pooling
32814053
Intra KCTD17 Q8N5Z5 q96bh6_human Homo sapiens Q96BH6
Validated Y2H
32814053
Intra KCTD17 Q8N5Z5 PPIA Homo sapiens P62937-2
Y2H Array
32814053
Intra KCTD17 Q8N5Z5 PPIA Homo sapiens P62937-2
Validated Y2H
32814053
Intra KCTD17 Q8N5Z5 PPIA Homo sapiens P62937-2
Y2H Pooling
32814053
Intra KCTD17 Q8N5Z5 SH3GLB1 Homo sapiens Q9Y371
Y2H Array
32814053
Intra KCTD17 Q8N5Z5 SH3GLB1 Homo sapiens Q9Y371
Y2H Pooling
32814053
Intra KCTD17 Q8N5Z5 SH3GLB1 Homo sapiens Q9Y371
Validated Y2H
32814053
Intra KCTD17 Q8N5Z5 RAN Homo sapiens P62826
Validated Y2H
32814053
Intra KCTD17 Q8N5Z5 RAN Homo sapiens P62826
Y2H Array
32814053
Intra KCTD17 Q8N5Z5 RAN Homo sapiens P62826
Y2H Pooling
32814053
Intra KCTD17 Q8N5Z5 FGFR3 Homo sapiens P22607
Y2H Pooling
32814053
Intra KCTD17 Q8N5Z5 FGFR3 Homo sapiens P22607
Validated Y2H
32814053
Intra KCTD17 Q8N5Z5 FGFR3 Homo sapiens P22607
Y2H Array
32814053
Intra KCTD17 Q8N5Z5 GSN Homo sapiens P06396
Validated Y2H
32814053
Intra KCTD17 Q8N5Z5 GSN Homo sapiens P06396
Y2H Array
32814053
Intra KCTD17 Q8N5Z5 GSN Homo sapiens P06396
Y2H Pooling
32814053
Intra KCTD17 Q8N5Z5 HSPA2 Homo sapiens P54652
Y2H Array
32814053
Intra KCTD17 Q8N5Z5 HSPA2 Homo sapiens P54652
Validated Y2H
32814053
Intra KCTD17 Q8N5Z5 HSPA2 Homo sapiens P54652
Y2H Pooling
32814053
Intra KCTD17 Q8N5Z5 PPIB Homo sapiens P23284
Y2H Array
32814053
Intra KCTD17 Q8N5Z5 PPIB Homo sapiens P23284
Y2H Pooling
32814053
Intra KCTD17 Q8N5Z5 PPIB Homo sapiens P23284
Validated Y2H
32814053
Intra KCTD17 Q8N5Z5 YWHAG Homo sapiens P61981
Validated Y2H
32814053
Intra KCTD17 Q8N5Z5 YWHAG Homo sapiens P61981
Y2H Array
32814053
Intra KCTD17 Q8N5Z5 YWHAG Homo sapiens P61981
Y2H Pooling
32814053
Intra KCTD17 Q8N5Z5 KAT5 Homo sapiens Q92993
Validated Y2H
32814053
Intra KCTD17 Q8N5Z5 KAT5 Homo sapiens Q92993
Y2H Array
32814053
Intra KCTD17 Q8N5Z5 KAT5 Homo sapiens Q92993
Y2H Pooling
32814053
Intra KCTD17 Q8N5Z5 CYCS Homo sapiens P99999
Validated Y2H
32814053
Intra KCTD17 Q8N5Z5 CYCS Homo sapiens P99999
Y2H Array
32814053
Intra KCTD17 Q8N5Z5 CYCS Homo sapiens P99999
Y2H Pooling
32814053
Intra KCTD17 Q8N5Z5 LRIF1 Homo sapiens Q5T3J3
Validated Y2H
32814053
Intra KCTD17 Q8N5Z5 LRIF1 Homo sapiens Q5T3J3
Y2H Array
32814053
Intra KCTD17 Q8N5Z5 LRIF1 Homo sapiens Q5T3J3
Y2H Pooling
32814053
Intra KCTD17 Q8N5Z5 HIP1 Homo sapiens O00291
Validated Y2H
32814053
Intra KCTD17 Q8N5Z5 HIP1 Homo sapiens O00291
Y2H Pooling
32814053
Intra KCTD17 Q8N5Z5 HIP1 Homo sapiens O00291
Y2H Array
32814053
Intra KCTD17 Q8N5Z5 PMP22 Homo sapiens A0A6Q8PF08
Validated Y2H
32814053
Intra KCTD17 Q8N5Z5 PMP22 Homo sapiens A0A6Q8PF08
Y2H Array
32814053
Intra KCTD17 Q8N5Z5 PMP22 Homo sapiens A0A6Q8PF08
Y2H Pooling
32814053
Intra KCTD17 Q8N5Z5 HTRA2 Homo sapiens O43464
Y2H Array
32814053
Intra KCTD17 Q8N5Z5 HTRA2 Homo sapiens O43464
Y2H Pooling
32814053
Intra KCTD17 Q8N5Z5 HTRA2 Homo sapiens O43464
Validated Y2H
32814053
Intra KCTD17 Q8N5Z5 SPRED1 Homo sapiens Q7Z699
Y2H Array
32814053
Intra KCTD17 Q8N5Z5 SPRED1 Homo sapiens Q7Z699
Y2H Pooling
32814053
Intra KCTD17 Q8N5Z5 SPRED1 Homo sapiens Q7Z699
Validated Y2H
32814053
Intra KCTD17 Q8N5Z5 PRPF40A Homo sapiens O75400-2
Validated Y2H
32814053
Intra KCTD17 Q8N5Z5 PRPF40A Homo sapiens O75400-2
Y2H Array
32814053
Intra KCTD17 Q8N5Z5 PRPF40A Homo sapiens O75400-2
Y2H Pooling
32814053
Intra KCTD17 Q8N5Z5 TINF2 Homo sapiens Q9BSI4
Pull Down
21044950
Intra KCTD17 Q8N5Z5 CASP6 Homo sapiens P55212
Y2H Array
32814053
Intra KCTD17 Q8N5Z5 CASP6 Homo sapiens P55212
Y2H Pooling
32814053
Intra KCTD17 Q8N5Z5 CASP6 Homo sapiens P55212
Validated Y2H
32814053
Intra KCTD17 Q8N5Z5 UBQLN1 Homo sapiens Q9UMX0
Y2H Array
32814053
Intra KCTD17 Q8N5Z5 UBQLN1 Homo sapiens Q9UMX0
Validated Y2H
32814053
Intra KCTD17 Q8N5Z5 UBQLN1 Homo sapiens Q9UMX0
Y2H Pooling
32814053
Intra KCTD17 Q8N5Z5 STK16 Homo sapiens O75716
Y2H Array
25416956
Intra KCTD17 Q8N5Z5 ccsb orf id: 14249 Homo sapiens EBI-22320186
Y2H Prey Pooling
32296183
Intra KCTD17 Q8N5Z5 ccsb orf id: 14249 Homo sapiens EBI-22320186
Y2H Array
32296183
Intra KCTD17 Q8N5Z5 DMC1 Homo sapiens Q14565
Y2H Array
31515488
Intra KCTD17 Q8N5Z5 STK16 Homo sapiens O75716
Validated Y2H
25416956
Intra KCTD17 Q8N5Z5 PRPH Homo sapiens P41219
Y2H Pooling
32814053
Intra KCTD17 Q8N5Z5 PRPH Homo sapiens P41219
Validated Y2H
32814053
Intra KCTD17 Q8N5Z5 PRPH Homo sapiens P41219
Y2H Array
32814053
Intra KCTD17 Q8N5Z5 LAT Homo sapiens O43561-2
Y2H Prey Pooling
32296183
Intra KCTD17 Q8N5Z5 LAT Homo sapiens O43561-2
Y2H Array
32296183
Intra KCTD17 Q8N5Z5 SETDB1 Homo sapiens Q15047-2
Validated Y2H
32814053
Intra KCTD17 Q8N5Z5 SETDB1 Homo sapiens Q15047-2
Y2H Array
32814053
Intra KCTD17 Q8N5Z5 SETDB1 Homo sapiens Q15047-2
Y2H Pooling
32814053
Intra KCTD17 Q8N5Z5 FLNA Homo sapiens P21333-2
Y2H Array
32814053
Intra KCTD17 Q8N5Z5 FLNA Homo sapiens P21333-2
Validated Y2H
32814053
Intra KCTD17 Q8N5Z5 FLNA Homo sapiens P21333-2
Y2H Pooling
32814053
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
Dystonia 26, Myoclonic

Myoclonic Dystonia 26

DYT26
Dystonia 11, Myoclonic

Myoclonic Dystonia

Myoclonus-Dystonia Syndrome

DYT11

Myoclonic Dystonia 11

Alcohol-Responsive Dystonia

Myoclonus, Hereditary Essential

Dystonia-11, Myoclonic

Myoclonus-Dystonia

Dystonia 11

Hereditary Essential Myoclonus

Dystonia, Alcohol-Responsive

Dyt-Sgce

Dystonia, Alcohol Responsive

Dystonia-11

Dystonia, Myoclonic

Dystonia, Myoclonic, Type 11
Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia
Parkinson Disease 20, Early-Onset

Early-Onset Parkinson Disease 20

PARK20

Parkinson'S Disease 20

Early-Onset Parkinson'S Disease 20

Parkinson Disease, Type 20, Early-Onset
Episodic Kinesigenic Dyskinesia 2

EKD2

Dystonia 19

Dyt19
Scalp-Ear-Nipple Syndrome

Finlay-Marks Syndrome

Sen Syndrome

SENS

Scalp Ear Nipple Syndrome

Hereditary Syndrome Of Lumpy Scalp, Odd Ears And Rudimentary Nipples

Hereditary Syndrome Of Lumpy Scalp, Odd Ears, And Rudimentary Nipples

Indian Childhood Cirrhosis
Ceroid Lipofuscinosis, Neuronal, 7

CLN7

Neuronal Ceroid Lipofuscinosis 7

Cln7 Disease

Cln7 Disease, Late Infantile

Mfsd8-Related Neuronal Ceroid Lipofuscinosis

Turkish Variant Late Infantile Ncl

Lipofuscinosis, Ceroid, Neuronal, Type 7
Spasmodic Dystonia

Laryngeal Dystonia
Segmental Dystonia
Dystonia 3, Torsion, X-Linked

X-Linked Dystonia-Parkinsonism

DYT3

Xdp

Lubag

Dystonia-Parkinsonism, X-Linked

Torsion Dystonia-Parkinsonism, Filipino Type

Dyt-Taf1

X-Linked Dystonia-Parkinsonism Syndrome

X-Linked Torsion Dystonia-Parkinsonism Syndrome

Dystonia Musculorum Deformans

X-Linked Dystonia-Parkinsonism/Lubag

Lubag Syndrome

Dystonia-3

Torsion Dystonia-Parkinsonism Filipino Type

X-Linked Torsion Dystonia 3

Dystonia, Torsion, X-Linked, Type 3
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-RS07194 KCTD17 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 KCTD17 MGD MGI:1920094
Rattus norvegicus KCTD17 RGD RGD:1311154
Felis catus KCTD17 VGNC VGNC:63057
Macaca mulatta KCTD17 VGNC VGNC:73909
Canis familiaris KCTD17 VGNC VGNC:54152
Bos taurus KCTD17 VGNC VGNC:30506
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