KCTD1 - potassium channel tetramerization domain containing 1 Gene

中文名称：含钾通道四聚结构域 1

种属: Homo sapiens

同用名: C18orf5

基因 ID: 284252 | 基因类型: protein coding

关于 KCTD1

Cytogenetic location: 18q11.2 Genomic coordinates (GRCh38): 18:26,454,910-26,657,473 (from NCBI)

This gene has 11 transcripts (splice variants), 207 orthologues, 13 paralogues and is associated with 3 phenotypes. Broad expression in skin (RPKM 10.7), esophagus (RPKM 8.1) and 21 other tissues.

功能概要

该基因编码的蛋白质含有 BTB (Broad-complex、tramtrack 和 bric a brac) ，也称为 POZ (POxvirus 和锌指) 蛋白质-蛋白质相互作用结构域。编码的蛋白质负向调节 AP-2 转录因子家族和 Wnt 信号通路。已经提出了一种调节 Wnt 信号的机制，其中编码的蛋白质增强了 β-连环蛋白的泛素化和降解。已在头皮-耳-乳头 (SEN) 综合征中发现该基因的突变。[RefSeq 提供，2017 年 5 月]

This gene encodes a protein containing a BTB (Broad-complex, tramtrack and bric a brac), also known as a POZ (POxvirus and zinc finger) protein-protein interaction domain. The encoded protein negatively regulates the AP-2 family of transcription factors and the Wnt signaling pathway. A mechanism for the modulation of Wnt signaling has been proposed in which the encoded protein enhances ubiquitination and degradation of the beta-catenin protein. Mutations in this gene have been identified in Scalp-ear-nipple (SEN) syndrome. [provided by RefSeq, May 2017]

KCTD1 基因产物(6)

mRNA	Protein	Name
NM_001136205.2	NP_001129677.1	BTB/POZ domain-containing protein KCTD1 isoform a
NM_001142730.3	NP_001136202.1	BTB/POZ domain-containing protein KCTD1 isoform b
NM_001258221.2	NP_001245150.1	BTB/POZ domain-containing protein KCTD1 isoform a
NM_001258222.3	NP_001245151.1	BTB/POZ domain-containing protein KCTD1 isoform c
NM_001351443.1	NP_001338372.1	BTB/POZ domain-containing protein KCTD1 isoform a
NM_198991.4	NP_945342.1	BTB/POZ domain-containing protein KCTD1 isoform a

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	25416956	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	25416956	GOA
enables transcription corepressor activity	IDA IDA: 通过直接分析推断	19115315	GOA
enables transcription factor binding	IPI IPI: 通过物理相互作用推断	19115315	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in negative regulation of DNA-templated transcription	IDA IDA: 通过直接分析推断	19115315	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in nucleus	IDA IDA: 通过直接分析推断	19115315	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

KCTD1 蛋白结构

BTB_2

0
100
200
257 a.a.

蛋白主名

其他名称

BTB/POZ domain-containing protein KCTD1

KCTD1 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	KCTD1	Q719H9	POLR1C	Homo sapiens	O15160	Y2H Prey Pooling	25416956
种属内	KCTD1	Q719H9	POLR1C	Homo sapiens	O15160	Y2H Array	25416956
种属内	KCTD1	Q719H9	LMO3	Homo sapiens	Q8TAP4-4	Validated Y2H	32296183
种属内	KCTD1	Q719H9	TGM7	Homo sapiens	Q96PF1	Validated Y2H	32296183
种属内	KCTD1	Q719H9	KCTD15	Homo sapiens	Q96SI1-2	Validated Y2H	32296183
种属内	KCTD1	Q719H9	KCTD15	Homo sapiens	Q96SI1-2	Y2H Prey Pooling	32296183
种属内	KCTD1	Q719H9	KCTD15	Homo sapiens	Q96SI1-2	Y2H Array	32296183
种属内	KCTD1	Q719H9	PRKAA2	Homo sapiens	P54646	Y2H Array	25416956
种属内	KCTD1	Q719H9	PSMA1	Homo sapiens	P25786	Y2H Prey Pooling	25416956
种属内	KCTD1	Q719H9	PSMA1	Homo sapiens	P25786	Y2H Array	25416956
种属内	KCTD1	Q719H9	EXOSC1	Homo sapiens	Q9Y3B2	Validated Y2H	32296183
种属内	KCTD1	Q719H9	TRAPPC2	Homo sapiens	P0DI81	Y2H Prey Pooling	25416956
种属内	KCTD1	Q719H9	TRAPPC2	Homo sapiens	P0DI81	Validated Y2H	25416956
种属内	KCTD1	Q719H9	EPM2AIP1	Homo sapiens	Q7L775	Y2H Prey Pooling	25416956
种属内	KCTD1	Q719H9	EPM2AIP1	Homo sapiens	Q7L775	Validated Y2H	25416956
种属内	KCTD1	Q719H9	EPM2AIP1	Homo sapiens	Q7L775	Y2H Array	25416956
种属内	KCTD1	Q719H9	KCTD15	Homo sapiens	Q96SI1	Validated Y2H	25416956
种属内	KCTD1	Q719H9	SDCBP	Homo sapiens	O00560	Y2H Array	25416956
种属内	KCTD1	Q719H9	LNX1	Homo sapiens	Q8TBB1	Validated Y2H	32296183
种属内	KCTD1	Q719H9	LNX1	Homo sapiens	Q8TBB1	Y2H Array	25416956
种属内	KCTD1	Q719H9	LNX1	Homo sapiens	Q8TBB1	Y2H Array	29892012
种属内	KCTD1	Q719H9	LNX1	Homo sapiens	Q8TBB1	Y2H Prey Pooling	25416956
种属内	KCTD1	Q719H9	LNX1	Homo sapiens	Q8TBB1	Validated Y2H	25416956
种属内	KCTD1	Q719H9	NTAQ1	Homo sapiens	Q96HA8	Y2H Prey Pooling	25416956
种属内	KCTD1	Q719H9	NTAQ1	Homo sapiens	Q96HA8	Y2H Array	31515488
种属内	KCTD1	Q719H9	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	25416956
种属内	KCTD1	Q719H9	NTAQ1	Homo sapiens	Q96HA8	Y2H Array	25416956
种属内	KCTD1	Q719H9	LMO3	Homo sapiens	Q8TAP4	Validated Y2H	25416956
种属内	KCTD1	Q719H9	LMO3	Homo sapiens	Q8TAP4	Y2H Array	25416956
种属内	KCTD1	Q719H9	LMO3	Homo sapiens	Q8TAP4	Y2H Prey Pooling	25416956
种属内	KCTD1	Q719H9	PICK1	Homo sapiens	Q9NRD5	Validated Y2H	32296183
种属内	KCTD1	Q719H9	KCTD1	Homo sapiens	Q719H9	GMS	27152988
种属内	KCTD1	Q719H9	KCTD1	Homo sapiens	Q719H9	Y2H Prey Pooling	32296183
种属内	KCTD1	Q719H9	KCTD1	Homo sapiens	Q719H9	Validated Y2H	32296183
种属内	KCTD1	Q719H9	KCTD1	Homo sapiens	Q719H9	Y2H Array	25416956
种属内	KCTD1	Q719H9	KCTD1	Homo sapiens	Q719H9	EM	27152988
种属内	KCTD1	Q719H9	KCTD1	Homo sapiens	Q719H9	Y2H Array	32296183

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

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

Aplasia Cutis Congenita

Aplasia Cutis Congenita Of Limbs Recessive	Congenital Absence Of Skin On The Upper Or Lower Limbs
Recessive Aplasia Cutis Congenita Of The Limbs	Aplasia Cutis Congenita Nonsyndromic
Congenital Defect Of Skull And Scalp	Scalp Defect Congenital

Branchiooculofacial Syndrome

Branchio-Oculo-Facial Syndrome	BOFS
Bof Syndrome	Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome
Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome	Branchial Clefts With Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, And Premature Aging
Branchial Clefts With Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct And Premature Aging	Bofs Syndrome
Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome

Osteogenesis Imperfecta, Type Iii

Osteogenesis Imperfecta Type Iii	OI3
Oi, Type Iii	Osteogenesis Imperfecta Type 3
Oi Type Iii	Oi Type 3
Progressive Deforming Osteogenesis Imperfecta	Severe Osteogenesis Imperfecta
Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae	Progressively Deforming Osteogenesis Imperfecta With Normal Sclera
Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae	Progressively Deforming Oi
Osteogenesis Imperfecta 3	Oi-Iii
Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae

Yunis-Varon Syndrome

Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia	Yunis Varon Syndrome
YVS	Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome
Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia	Yunis-Varón Syndrome

Ectodermal Dysplasia 4, Hair/Nail Type

Pure Hair And Nail Ectodermal Dysplasia	ECTD4
Ectodermal Dysplasia, Pure Hair-Nail Type	Ectodermal Dysplasia, 'Pure' Hair/Nail Type
Hned	Hair-Nail Ectodermal Dysplasia
Phned	Ectodermal Dysplasia Pure Hair-Nail Type
Ectodermal Dysplasia, 'Pure' Hair-Nail Type	Dysplasia, Ectodermal, Type 4, Hair/Nail

Gillespie Syndrome

GLSP	Aniridia, Cerebellar Ataxia And Mental Deficiency
Aniridia Cerebellar Ataxia Mental Deficiency	Aniridia, Cerebellar Ataxia, And Mental Retardation
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Aniridia-Cerebellar Ataxia-Intellectual Disability
Aniridia-Cerebellar Ataxia-Mental Deficiency	Partial Aniridia-Cerebellar Ataxia-Oligophrenia
Aniridia, Cerebellar Ataxia, And Intellectual Disability

Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive

Hypohidrotic Ectodermal Dysplasia	Hed
Anhidrotic Ectodermal Dysplasia	Ectodermal Dysplasia, Hypohidrotic
Eda	Christ-Siemens-Touraine Syndrome
ECTD10B	Ectodermal Dysplasia Anhidrotic
Ectodermal Dysplasia, Anhidrotic	Cst Syndrome
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive	Dysplasia, Ectodermal, Type 10b, Hypohidrotic/Hair/Tooth, Autosomal Recessive
Dysplasia, Ectodermal, Hypohidrotic	Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Ectodermal Dysplasia 3, Anhidrotic	Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive

Fetal Akinesia Deformation Sequence 1

Fetal Akinesia Deformation Sequence	Fads
Fetal Akinesia Sequence	FADS1
Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia	Pena-Shokeir Syndrome Type 1
Fetal Akinesia Deformation Sequence Syndrome	Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia	Pena-Shokeir Syndrome, Type I
Foetal Akinesia Deformation Sequence Syndrome	Foetal Akinesia Sequence
Fetal Akinesia Deformation Sequence Syndrome 1	Pena-Shokeir Syndrome, Type 1
Pena Shokeir Syndrome, Type 1	Akinesia, Fetal, Deformation Sequence
Akinesia, Fetal, Deformation Sequence, Type 1	Pena-Shokeir Syndrome Type I

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS07186	KCTD1 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	KCTD1	RGD	RGD:621566
Mus musculus	KCTD1	MGD	MGI:1918269
Macaca mulatta	KCTD1	VGNC	VGNC:73850
Felis catus	KCTD1	VGNC	VGNC:63052
Canis familiaris	KCTD1	VGNC	VGNC:55750
Bos taurus	KCTD1	VGNC	VGNC:30499
Others	KCTD1	NCBI

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

KCTD1 - potassium channel tetramerization domain containing 1 Gene

关于 KCTD1

功能概要

KCTD1 基因产物(6)

KCTD1 蛋白结构

KCTD1 蛋白互作信息

关联疾病

直系同源

热门区域

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KCTD1 - potassium channel tetramerization domain containing 1 Gene

关于 KCTD1

功能概要

KCTD1 基因产物(6)

KCTD1 蛋白结构

KCTD1 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

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