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  2. NIN - ninein Gene

NIN - ninein Gene

中文名称:尼宁

种属: Homo sapiens

同用名: SCKL7

基因 ID: 51199 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种对中心体功能很重要的蛋白质。这种蛋白质对于定位和锚定上皮细胞中的微管负端很重要。这种蛋白质定位到中心体需要中央卷曲螺旋结构域中的三个亮氨酸拉链。已经报道了编码不同亚型的多个选择性剪接的转录物变体。[RefSeq 提供,2008 年 7 月]

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 基因产物(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
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 protein binding IPI
IPI: 通过物理相互作用推断
11004522 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in centriole-centriole cohesion IMP
IMP: 通过突变表型推断
23213374 GOA
involved in microtubule anchoring at centrosome IMP
IMP: 通过突变表型推断
23386061 GOA
involved in protein localization IMP
IMP: 通过突变表型推断
23213374 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of centriolar subdistal appendage IDA
IDA: 通过直接分析推断
23213374 GOA
located in centriole IDA
IDA: 通过直接分析推断
23213374 GOA
located in centrosome IDA
IDA: 通过直接分析推断
12927815 GOA
located in mitotic spindle IDA
IDA: 通过直接分析推断
15147888 GOA
located in pericentriolar material IDA
IDA: 通过直接分析推断
8834802 GOA
located in spindle pole IMP
IMP: 通过突变表型推断
18331714 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

NIN 蛋白结构

EF-hand_6

EF-hand_6: EF-hand domain (12 - 39)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2090 a.a.
蛋白主名 其他名称

ninein

glycogen synthase kinase 3 beta-interacting protein

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

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

直系同源

种属 基因名 来源 基因 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
Macaca fascicularis NIN NCBI NCBI:102142002
Canis lupus familiaris NIN NCBI
Others NIN NCBI