NIN - ninein Gene

Also Known as SCKL7

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 51199

About NIN

Cytogenetic location: 14q22.1 Genomic coordinates (GRCh38): 14:50,719,763-50,831,503 (from NCBI)

This gene has 21 transcripts (splice variants), 206 orthologues, 1 paralogue and is associated with 89 phenotypes. Ubiquitous expression in lymph node (RPKM 13.5), appendix (RPKM 9.8) and 24 other tissues.

Summary

This gene encodes one of the proteins important for centrosomal function. This protein is important for positioning and anchoring the microtubules minus-ends in epithelial cells. Localization of this protein to the centrosome requires three leucine zippers in the central coiled-coil domain. Multiple alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008]

NIN Products (4)

mRNA	Protein	Name
NM_016350.5	NP_057434.4	ninein isoform 6
NM_020921.4	NP_065972.4	ninein isoform 2
NM_182944.3	NP_891989.3	ninein isoform 1
NM_182946.2	NP_891991.2	ninein isoform 5

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	11004522	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in centriole-centriole cohesion	IMP IMP: Inferred from mutant phenotype	23213374	GOA
involved in microtubule anchoring at centrosome	IMP IMP: Inferred from mutant phenotype	23386061	GOA
involved in protein localization	IMP IMP: Inferred from mutant phenotype	23213374	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
part of centriolar subdistal appendage	IDA IDA: Inferred from direct assay	23213374	GOA
located in centriole	IDA IDA: Inferred from direct assay	23213374	GOA
located in centrosome	IDA IDA: Inferred from direct assay	12927815	GOA
located in mitotic spindle	IDA IDA: Inferred from direct assay	15147888	GOA
located in pericentriolar material	IDA IDA: Inferred from direct assay	8834802	GOA
located in spindle pole	IMP IMP: Inferred from mutant phenotype	18331714	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

NIN Protein Structure

EF-hand_6

0
400
800
1200
1600
2000
2090 a.a.

Protein Preferred Names	Protein Names
ninein	glycogen synthase kinase 3 beta-interacting protein

NIN 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	NIN	Q8N4C6	RTRAF	Homo sapiens	Q9Y224	Pull Down	15147888
Intra	NIN	Q8N4C6	RTRAF	Homo sapiens	Q9Y224	Y2H	15147888
Intra	NIN	Q8N4C6	GSK3B	Homo sapiens	P49841	Protein Kinase Assay	15147888
Intra	NIN	Q8N4C6	GSK3B	Homo sapiens	P49841	Y2H	11004522
Intra	NIN	Q8N4C6	GSK3B	Homo sapiens	P49841	Imaging	17139249
Intra	NIN	Q8N4C6	CCDC120	Homo sapiens	Q96HB5	Confocal	28422092
Intra	NIN	Q8N4C6	CCDC120	Homo sapiens	Q96HB5	Pull Down	28422092
Intra	NIN	Q8N4C6	CCDC120	Homo sapiens	Q96HB5	Anti Tag CoIP	28422092

Cross: Cross-species interaction Intra: Intraspecies interaction

NIN 抗体

製品番号	製品名	アプリケーション	反応性
HY-P86996	Ninein Antibody (YA6689)	WB, IHC-P, ICC/IF, FC	Human, Rat

関連疾患

Diseases	Alias
Seckel Syndrome 7	SCKL7 Microcephalic Primordial Dwarfism, Dauber Type Seckel Syndrome, Type 7
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Dental Anomalies And Short Stature	Brachyolmia-Amelogenesis Imperfecta Syndrome Platyspondyly With Amelogenesis Imperfecta DASS Verloes Bourguignon Syndrome Verloes-Bourguignon Syndrome Vbs Sthag6 Tooth Agenesis, Selective, 6 Tooth Agenesis, Selective, 6, Formerly Sthag6, Formerly Selective Tooth Agenesis 5 Amelogenesis Imperfecta And Platyspondyly Skeletal Dysplasia With Amelogenesis Imperfecta And Platyspondyly Platyspondyly-Amelogenesis Imperfecta Syndrome
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	SEMDJL2 Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type Spondyloepimetaphyseal Dysplasia With Multiple Dislocations, Hall Type Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 2 Spondyloepimetaphyseal Dysplasia With Multiple Dislocations Hall Type Spondyloepimetaphyseal Dysplasia With Joint Laxity, Hall Type Semd-Md Spondyloepimetaphyseal Dysplasia With Joint Laxicity, Hall Type Spondyloepimetaphyseal Dysplasia With Joint Laxity, 2 Lepto-Semdjl Spondyloepimetaphyseal Dysplasia With Joint Laxity Hall Type Spondyloepimetaphyseal Dysplasia With Joint Laxity Leptodactylic Type Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Seckel Syndrome 4	SCKL4 Seckel Syndrome, Type 4
Meckel Syndrome, Type 1	Meckel-Gruber Syndrome Meckel Syndrome Dysencephalia Splanchnocystica Meckel Syndrome 1 MKS1 Mks Gruber Syndrome Meckel-Gruber Syndrome, Type 1 Mes Dysencephalia Splachnocystica Meckel Gruber Syndrome Meckel Syndrome Type 1
Orofaciodigital Syndrome I	OFD1 Orofaciodigital Syndrome 1 Oral-Facial-Digital Syndrome, Type I Oral-Facial-Digital Syndrome 1 Ofds I Papillon-Leage And Psaume Syndrome Papillon-Leage-Psaume Syndrome Oral-Facial-Digital Syndrome Type 1 Orofaciodigital Syndrome Type 1 Orofaciodigital Syndromes Orofaciodigital Syndrome Type I Oral-Facial-Digital Syndrome Type I Ofd Syndrome 1 Ofds 1 Oral Facial Digital Syndrome 1 Oral Facial Digital Syndrome Type 1 Papillon-League-Psaume Syndrome Ofdi Ofdsi Orofaciodigital Syndrome, Type I
Primary Microcephaly	True Microcephaly Microcephaly, Primary
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Isolated Growth Hormone Deficiency, Type Ia	Ighd Ia Primordial Dwarfism Isolated Growth Hormone Deficiency Type Ia Sexual Ateleiotic Dwarfism Pituitary Dwarfism I IGHD1A Illig-Type Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, Type Ia Congenital Ighd Type Ia Congenital Isolated Gh Deficiency Type Ia Congenital Isolated Growth Hormone Deficiency Type Ia Pituitary Dwarfism 1 Growth Hormone Deficiency, Isolated, Autosomal Recessive Autosomal Recessive Isolated Growth Hormone Deficiency Isolated Growth Hormone Deficiency Type 1a Congenital Ighd Congenital Isolated Gh Deficiency Congenital Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated Autosomal Recessive Illig Type Growth Hormone Deficiency Non-Acquired Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, 1a Growth Hormone Deficiency Isolated Autosomal Recessive Dwarfism, Primordial Dwarfism
Primary Autosomal Recessive Microcephaly	Autosomal Recessive Primary Microcephaly Mcph True Microcephaly Microcephalia Vera Microcephaly Vera Microcephaly Primary Hereditary Microcephaly, Primary, Autosomal Recessive Primary Microcephaly
Periventricular Nodular Heterotopia	Periventricular Heterotopia Pvnh Familial Nodular Heterotopia Heterotopia, Periventricular Periventricular Heterotopia, X-Linked
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
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

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 (5)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-150235	Galectin-8N-IN-1	Inhibitor	99.38%	Unkown
HY-RS09297	NIN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-163900	Galectin-8N-IN-2	Inhibitor	/	Unkown
HY-RS17443	Nin Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23899	Nin Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Canis familiaris	NIN	VGNC	VGNC:43810
Rattus norvegicus	NIN	RGD	RGD:1306492
Mus musculus	NIN	MGD	MGI:105108
Macaca mulatta	NIN	VGNC	VGNC:75177
Bos taurus	NIN	VGNC	VGNC:32077
Felis catus	NIN	VGNC	VGNC:63804
Others	NIN	NCBI