KANK1 - KN motif and ankyrin repeat domains 1 Gene

Also Known as KANK; CPSQ2; ANKRD15

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 23189

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables beta-catenin binding	IDA IDA: Inferred from direct assay	16968744	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16968744	GOA
enables protein-macromolecule adaptor activity	IDA IDA: Inferred from direct assay	27410476	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in actin cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	12133830	GOA
involved in cell population proliferation	IMP IMP: Inferred from mutant phenotype	12133830	GOA
involved in cortical microtubule organization	IMP IMP: Inferred from mutant phenotype	24120883	GOA
involved in negative regulation of Rho protein signal transduction	IMP IMP: Inferred from mutant phenotype	18458160	GOA
acts upstream of or within negative regulation of actin filament polymerization	IDA IDA: Inferred from direct assay	17996375	GOA
involved in negative regulation of actin filament polymerization	IDA IDA: Inferred from direct assay	18458160	GOA
involved in negative regulation of cell migration	IMP IMP: Inferred from mutant phenotype	18458160	GOA
involved in negative regulation of insulin receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	18458160	GOA
involved in negative regulation of lamellipodium morphogenesis	IDA IDA: Inferred from direct assay	19171758	GOA
involved in negative regulation of neuron projection development	IDA IDA: Inferred from direct assay	19171758	GOA
involved in negative regulation of ruffle assembly	IDA IDA: Inferred from direct assay	19171758	GOA
involved in negative regulation of substrate adhesion-dependent cell spreading	IDA IDA: Inferred from direct assay	19171758	GOA
involved in podocyte cell migration	IMP IMP: Inferred from mutant phenotype	25961457	GOA
involved in positive regulation of Wnt signaling pathway	IDA IDA: Inferred from direct assay	16968744	GOA
involved in positive regulation of canonical Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	16968744	GOA
involved in positive regulation of wound healing	IMP IMP: Inferred from mutant phenotype	22084092	GOA
involved in regulation of Rho protein signal transduction	IMP IMP: Inferred from mutant phenotype	25961457	GOA
involved in regulation of establishment of cell polarity	IMP IMP: Inferred from mutant phenotype	22084092	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in cell cortex	IDA IDA: Inferred from direct assay	24120883	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	12133830	GOA
located in nucleus	IDA IDA: Inferred from direct assay	16968744	GOA
located in ruffle membrane	IDA IDA: Inferred from direct assay	19559006	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KANK1 Protein Structure

KN_motif

Ank_2

0
300
600
900
1200
1352 a.a.

Protein Preferred Names	Protein Names
KN motif and ankyrin repeat domain-containing protein 1	ankyrin repeat domain-containing protein 15

KANK1 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	KANK1	Q14678	ARFGEF1	Homo sapiens	Q9Y6D6	Anti Bait CoIP	22084092
Intra	KANK1	Q14678	KIF21A	Homo sapiens	Q7Z4S6	Anti Bait CoIP	22084092
Intra	KANK1	Q14678	CTNNB1	Homo sapiens	P35222	Anti Bait CoIP	16968744
Intra	KANK1	Q14678	BAIAP2	Homo sapiens	Q9UQB8	Pull Down	19171758

Cross: Cross-species interaction Intra: Intraspecies interaction

KANK1 抗体

製品番号	製品名	アプリケーション	反応性
HY-P810821	KANK1 Antibody (YA10064)	WB, IHC-P	Human

関連疾患

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS07063	KANK1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	KANK1	NCBI