KANK1 - KN motif and ankyrin repeat domains 1 Gene

中文名称：KN 基序和锚蛋白重复结构域 1

种属: Homo sapiens

同用名: KANK; CPSQ2; ANKRD15

基因 ID: 23189 | 基因类型: protein coding

关于 KANK1

Cytogenetic location: 9p24.3 Genomic coordinates (GRCh38): 9:470,295-746,103 (from NCBI)

This gene has 50 transcripts (splice variants), 294 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in esophagus (RPKM 11.7), heart (RPKM 11.6) and 24 other tissues.

功能概要

该基因编码的蛋白质属于 Kank 蛋白质家族，其中包含多个锚蛋白重复结构域。该家族成员通过调节肌动蛋白聚合在细胞骨架形成中发挥作用。该基因是肾细胞癌的候选抑癌基因。该基因的突变会导致 2 型脑瘫痉挛性四肢瘫痪，这是一种中枢神经系统发育障碍。 t (5;9) 易位导致 5 号染色体上的血小板衍生生长因子受体 β 基因 (PDGFRB) 与以严重血小板增多症为特征的骨髓增生性肿瘤中的该基因融合。该基因的可变剪接导致多个转录变体。在 20 号染色体上发现了一个相关的假基因。[RefSeq 提供，2014 年 12 月]

The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in Cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014]

KANK1 基因产物(18)

mRNA	Protein	Name
NM_001256876.3	NP_001243805.1	KN motif and ankyrin repeat domain-containing protein 1 isoform L
NM_001256877.3	NP_001243806.1	KN motif and ankyrin repeat domain-containing protein 1 isoform L
NM_001354331.2	NP_001341260.1	KN motif and ankyrin repeat domain-containing protein 1 isoform c
NM_001354332.2	NP_001341261.1	KN motif and ankyrin repeat domain-containing protein 1 isoform d
NM_001354333.2	NP_001341262.1	KN motif and ankyrin repeat domain-containing protein 1 isoform S
NM_001354334.2	NP_001341263.1	KN motif and ankyrin repeat domain-containing protein 1 isoform L
NM_001354335.2	NP_001341264.1	KN motif and ankyrin repeat domain-containing protein 1 isoform S
NM_001354336.2	NP_001341265.1	KN motif and ankyrin repeat domain-containing protein 1 isoform e
NM_001354337.2	NP_001341266.1	KN motif and ankyrin repeat domain-containing protein 1 isoform S
NM_001354338.2	NP_001341267.1	KN motif and ankyrin repeat domain-containing protein 1 isoform f
NM_001354339.2	NP_001341268.1	KN motif and ankyrin repeat domain-containing protein 1 isoform g
NM_001354340.2	NP_001341269.1	KN motif and ankyrin repeat domain-containing protein 1 isoform f
NM_001354341.2	NP_001341270.1	KN motif and ankyrin repeat domain-containing protein 1 isoform S
NM_001354342.2	NP_001341271.1	KN motif and ankyrin repeat domain-containing protein 1 isoform g
NM_001354343.2	NP_001341272.1	KN motif and ankyrin repeat domain-containing protein 1 isoform g
NM_001354344.2	NP_001341273.1	KN motif and ankyrin repeat domain-containing protein 1 isoform f
NM_015158.5	NP_055973.2	KN motif and ankyrin repeat domain-containing protein 1 isoform L
NM_153186.6	NP_694856.1	KN motif and ankyrin repeat domain-containing protein 1 isoform S

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 beta-catenin binding	IDA IDA: 通过直接分析推断	16968744	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	16968744	GOA
enables protein-macromolecule adaptor activity	IDA IDA: 通过直接分析推断	27410476	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in actin cytoskeleton organization	IMP IMP: 通过突变表型推断	12133830	GOA
involved in cell population proliferation	IMP IMP: 通过突变表型推断	12133830	GOA
involved in cortical microtubule organization	IMP IMP: 通过突变表型推断	24120883	GOA
involved in negative regulation of Rho protein signal transduction	IMP IMP: 通过突变表型推断	18458160	GOA
acts upstream of or within negative regulation of actin filament polymerization	IDA IDA: 通过直接分析推断	17996375	GOA
involved in negative regulation of actin filament polymerization	IDA IDA: 通过直接分析推断	18458160	GOA
involved in negative regulation of cell migration	IMP IMP: 通过突变表型推断	18458160	GOA
involved in negative regulation of insulin receptor signaling pathway	IMP IMP: 通过突变表型推断	18458160	GOA
involved in negative regulation of lamellipodium morphogenesis	IDA IDA: 通过直接分析推断	19171758	GOA
involved in negative regulation of neuron projection development	IDA IDA: 通过直接分析推断	19171758	GOA
involved in negative regulation of ruffle assembly	IDA IDA: 通过直接分析推断	19171758	GOA
involved in negative regulation of substrate adhesion-dependent cell spreading	IDA IDA: 通过直接分析推断	19171758	GOA
involved in podocyte cell migration	IMP IMP: 通过突变表型推断	25961457	GOA
involved in positive regulation of Wnt signaling pathway	IDA IDA: 通过直接分析推断	16968744	GOA
involved in positive regulation of canonical Wnt signaling pathway	IMP IMP: 通过突变表型推断	16968744	GOA
involved in positive regulation of wound healing	IMP IMP: 通过突变表型推断	22084092	GOA
involved in regulation of Rho protein signal transduction	IMP IMP: 通过突变表型推断	25961457	GOA
involved in regulation of establishment of cell polarity	IMP IMP: 通过突变表型推断	22084092	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cell cortex	IDA IDA: 通过直接分析推断	24120883	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	12133830	GOA
located in nucleus	IDA IDA: 通过直接分析推断	16968744	GOA
located in ruffle membrane	IDA IDA: 通过直接分析推断	19559006	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

KANK1 蛋白结构

KN_motif

Ank_2

0
300
600
900
1200
1352 a.a.

蛋白主名

其他名称

KN motif and ankyrin repeat domain-containing protein 1

ankyrin repeat domain-containing protein 15

KANK1 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	KANK1	Q14678	ARFGEF1	Homo sapiens	Q9Y6D6	Anti Bait CoIP	22084092
种属内	KANK1	Q14678	KIF21A	Homo sapiens	Q7Z4S6	Anti Bait CoIP	22084092
种属内	KANK1	Q14678	CTNNB1	Homo sapiens	P35222	Anti Bait CoIP	16968744
种属内	KANK1	Q14678	BAIAP2	Homo sapiens	Q9UQB8	Pull Down	19171758

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

Cerebral Palsy, Spastic Quadriplegic, 2

CPSQ2	Cerebral Palsy, Spastic Quadriplegic 2
Palsy, Cerebral, Spastic Quadriplegic, Type 2

Inherited Congenital Spastic Tetraplegia

Inherited Congenital Spastic Quadriplegia	Quadriplegic Cerebral Palsy
Spastic Quadriplegic Cerebral Palsy

Cerebral Palsy

Infantile Cerebral Palsy	Mixed Cerebral Palsy
Palsy Cerebral	Palsy, Cerebral
Cerebral Palsy, Mixed

Spastic Quadriplegia

Spastic Quadriplegic Cerebral Palsy	Quadriplegic Infantile Cerebral Palsy
Tetraplegic Infantile Cerebral Palsy	Cerebral Palsy Spastic Quadriplegic
Quadriplegic Cerebral Palsy	Spastic Quadriplegia Cerebral Palsy
Spastic Tetraplegia Cerebral Palsy	Cerebral Palsy, Quadriplegic, Infantile
Cerebral Palsy With Spastic Tetraplegia	Congenital Spastic Quadriplegia
Spastic Tetraplegic Cerebral Palsy	Congenital Quadriplegia Nos
Tetraplegic Cerebral Palsy

Quadriplegia

Tetraplegia

Tetraplegias

Hereditary Spastic Paraplegia 51

Autosomal Dominant Spastic Paraplegia 51	Cpsq4
Spastic Quadriplegic Cerebral Palsy 4	Spg51
Spastic Paraplegia 51, Autosomal Recessive

Spastic Cerebral Palsy

Palsy, Cerebral, Spastic	Infantile Hemiplegia Nos
Postnatal Infantile Hemiplegia Nos	Congenital Spastic Hemiplegia
Spastic Hemiplegic Cerebral Palsy	Congenital Hemiplegia Nos
Hemiplegic Cerebral Palsy	Hemiplegic Infantile Cerebral Palsy

Metanephric Adenoma

Myeloproliferative Neoplasm

Myeloproliferative Disorder	Chronic Myeloproliferative Disease
Myeloproliferative Neoplasms	Chronic Myeloproliferative Disorder
Cmpd	Cmpd, U
Chronic Myeloproliferative Disorders	Mpd
Mpn	Myeloproliferative Disorders
Myeloproliferative Disease	Campomelic Dysplasia

Renal Adenoma

Renal Cell Adenoma

Intellectual Developmental Disorder, Autosomal Dominant 2

MRD2	Autosomal Dominant Non-Syndromic Intellectual Disability 2
Autosomal Dominant Intellectual Developmental Disorder 2	Mental Retardation, Autosomal Dominant 2

Congenital Fibrosis Of The Extraocular Muscles

Congenital Fibrosis Of Extraocular Muscles	Cfeom
Feom	Congenital External Ophthalmoplegia
Congenital Fibrosis Syndrome	General Fibrosis Syndrome

Chromosome 9p Deletion Syndrome

Monosomy 9p	Monosomy 9p Syndrome
Alfi Syndrome	9p Syndrome
Chromosome 9p Deletion	9p Deletion
9p Monosomy	Deletion 9p
Partial Monosomy 9p	9p Deletion Syndrome
9p- Syndrome	Alfi'S Syndrome
Chromosome 9, Partial Trisomy 9p

Nephrotic Syndrome, Type 3

NPHS3	Nephrotic Syndrome Type 3
Nephrotic Syndrome, Early-Onset, Type 3	Early Onset Nephrotic Syndrome Type 3
Nephrotic Syndrome 3	Early-Onset Nephrotic Syndrome Type 3

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome	Ns - [Nephrotic Syndrome]
Nephrosis Syndrome	Nephrosis Nos
Glomerular Lesion Nephrosis

Spastic Paraplegia 50, Autosomal Recessive

Hereditary Spastic Paraplegia 50	SPG50
Ap-4 Deficiency Syndrome	Ap-4-Associated Hereditary Spastic Paraplegia
Adaptor Protein Complex 4 Deficiency	Cerebral Palsy, Spastic Quadriplegic, 3, Formerly
Cpsq3, Formerly	Autosomal Recessive Spastic Paraplegia 50
Cpsq3	Spastic Quadriplegic Cerebral Palsy 3
Ap-4 Deficiency	Ap-4-Associated Hsp
Paraplegia, Spastic, Autosomal Recessive, Type 50	Spastic Paraplegia-50, Autosomal Recessive

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-RS07063	KANK1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	KANK1	VGNC	VGNC:102942
Macaca mulatta	KANK1	VGNC	VGNC:103275
Rattus norvegicus	KANK1	RGD	RGD:1307714
Canis familiaris	KANK1	VGNC	VGNC:53727
Bos taurus	KANK1	VGNC	VGNC:56976
Mus musculus	KANK1	MGD	MGI:2147707

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上海工商

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沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

KANK1 - KN motif and ankyrin repeat domains 1 Gene

关于 KANK1

功能概要

KANK1 基因产物(18)

KANK1 蛋白结构

KANK1 蛋白互作信息

关联疾病

直系同源

热门区域

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KANK1 - KN motif and ankyrin repeat domains 1 Gene

关于 KANK1

功能概要

KANK1 基因产物(18)

KANK1 蛋白结构

KANK1 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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C

F

G

H

J

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Q

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