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  2. KATNB1 - katanin regulatory subunit B1 Gene

KATNB1 - katanin regulatory subunit B1 Gene

中文名称:katanin 调节亚基 B1

种属: Homo sapiens

同用名: KAT; LIS6

基因 ID: 10300 | 基因类型: protein coding

关于 KATNB1

Cytogenetic location: 16q21 Genomic coordinates (GRCh38): 16:57,735,770-57,757,244 (from NCBI)

This gene has 10 transcripts (splice variants), 209 orthologues and is associated with 3 phenotypes. Broad expression in testis (RPKM 14.6), brain (RPKM 7.5) and 24 other tissues.

功能概要

微管是 α 和 β 微管蛋白亚基的聚合物,形成分裂细胞的有丝分裂纺锤体,并有助于在间期组织膜状细胞器。 Katanin 是一种异二聚体,由一个 60 kDa ATP 酶 (p60 亚基 A 1) 和一个 80 kDa 辅助蛋白 (p80 亚基 B 1) 组成。 p60 亚基用于切断和分解微管,而 p80 亚基将酶靶向中心体。 Katanin 是 ATA 酶 AAA 家族的成员。[RefSeq 提供,2008 年 7 月]

Microtubules, Polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the Enzyme to the centrosome. Katanin is a member of the AAA family of ATPases. [provided by RefSeq, Jul 2008]

KATNB1 基因产物(1)

mRNA Protein Name
NM_005886.3 NP_005877.2 katanin p80 WD40 repeat-containing subunit B1
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 ATPase regulator activity IDA
IDA: 通过直接分析推断
10751153 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
24486153 GOA
enables protein heterodimerization activity IPI
IPI: 通过物理相互作用推断
10751153 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of microtubule depolymerization IMP
IMP: 通过突变表型推断
10751153 GOA
involved in positive regulation of microtubule depolymerization IMP
IMP: 通过突变表型推断
10751153 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
10751153 GOA
part of katanin complex IDA
IDA: 通过直接分析推断
9568719 GOA
part of katanin complex IPI
IPI: 通过物理相互作用推断
26929214 GOA
located in microtubule IDA
IDA: 通过直接分析推断
26929214 GOA
located in spindle IDA
IDA: 通过直接分析推断
26929214 GOA
located in spindle pole IDA
IDA: 通过直接分析推断
10751153 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

KATNB1 蛋白结构

WD40

WD40: WD domain, G-beta repeat (14 - 49)

WD40

WD40: WD domain, G-beta repeat (54 - 91)

WD40

WD40: WD domain, G-beta repeat (96 - 133)

WD40

WD40: WD domain, G-beta repeat (139 - 175)

WD40

WD40: WD domain, G-beta repeat (182 - 217)

WD40

WD40: WD domain, G-beta repeat (226 - 253)

Katanin_con80

Katanin_con80: con80 domain of Katanin (492 - 651)

  • 0
  • 200
  • 400
  • 600
  • 655 a.a.
蛋白主名 其他名称

katanin p80 WD40 repeat-containing subunit B1

katanin (80 kDa)

KATNB1 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
Intra KATNB1 Q9BVA0 KATNA1 Homo sapiens O75449
Anti Tag CoIP
26929214
Intra KATNB1 Q9BVA0 KATNA1 Homo sapiens O75449
TAP
26929214
Intra KATNB1 Q9BVA0 BTK Homo sapiens Q06187
Anti Tag CoIP
33961781
Intra KATNB1 Q9BVA0 BTK Homo sapiens Q06187
Anti Tag CoIP
28514442
Intra KATNB1 Q9BVA0 KATNAL1 Homo sapiens Q9BW62
Anti Tag CoIP
26929214
Intra KATNB1 Q9BVA0 KATNAL1 Homo sapiens Q9BW62
TAP
26929214
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
Lissencephaly 6 With Microcephaly

Lissencephaly 6, With Microcephaly

LIS6

Lissencephaly, Type 6, With Microcephaly

Lissencephaly 2

Norman-Roberts Syndrome

Lissencephaly Syndrome, Norman-Roberts Type

LIS2

Lissencephaly With Cerebellar Hypoplasia

Lch

Lissencephaly Syndrome Norman-Roberts Type

Norman Roberts Lissencephaly Syndrome

Lissencephaly 3

Lis3

Microlissencephaly Type A

Norman-Roberts Lissencephaly Syndrome

Lissencephaly, Type 2

Cobblestone Lissencephaly

Lissencephaly 6

Lis6

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

Microlissencephaly
Acromelic Frontonasal Dysostosis

AFND

Acromelic Frontonasal Dysplasia

Frontonasal Dysplasia Acromelic

Toriello Syndrome

Dysostosis, Acromelic Frontonasal

Sweet Syndrome

Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria

Joubert Syndrome 26

JBTS26

Polymicrogyria, Bilateral Temporooccipital

Bilateral Parasagittal Parieto-Occipital Polymicrogyria

BTOP

Bilateral Temporooccipital Polymicrogyria

Polymicrogyria

Oligoasthenoteratozoospermia

Oat

Oligoasthenoteratospermia

Microcephaly 5, Primary, Autosomal Recessive

MCPH5

Primary Autosomal Recessive Microcephaly 5

Microcephaly Primary Autosomal Recessive 5 With Simplified Gyral Pattern

Microcephaly, Primary Autosomal Recessive, 5

Mannosidosis, Beta A, Lysosomal

Beta-Mannosidosis

Lysosomal Beta-Mannosidase Deficiency

Beta-Mannosidase Deficiency

Beta-D-Mannosidosis

Mannosidosis, Beta

MANSB

Lysosomal Beta A Mannosidosis

Band Heterotopia

Subcortical Band Heterotopia

Double Cortex Syndrome

Subcortical Laminar Heterotopia

Double Cortex

Band Heterotopia Of Brain

BH

Heco

Heterotopic Cortex

Familial Band Heterotopia

Dc

Dc Syndrome

Heterotopia, Subcortical Band

Sbh

Sclh

Bhy

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly

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

Periventricular Nodular Heterotopia

Periventricular Heterotopia

Pvnh

Familial Nodular Heterotopia

Heterotopia, Periventricular

Periventricular Heterotopia, X-Linked

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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
Rattus norvegicus KATNB1 RGD RGD:1311256
Felis catus KATNB1 VGNC VGNC:67888
Mus musculus KATNB1 MGD MGI:1921437
Macaca mulatta KATNB1 VGNC VGNC:73962
Bos taurus KATNB1 VGNC VGNC:30408
Canis familiaris KATNB1 VGNC VGNC:54758