KATNB1 - katanin regulatory subunit B1 Gene

Also Known as KAT; LIS6

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10300

About 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.

Summary

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 Products (1)

mRNA Protein Name
NM_005886.3 NP_005877.2 katanin p80 WD40 repeat-containing subunit B1
Molecular Function GO Annotation Evidence References Source
enables ATPase regulator activity IDA
IDA: Inferred from direct assay
10751153 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
24486153 GOA
enables protein heterodimerization activity IPI
IPI: Inferred from physical interaction
10751153 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of microtubule depolymerization IMP
IMP: Inferred from mutant phenotype
10751153 GOA
involved in positive regulation of microtubule depolymerization IMP
IMP: Inferred from mutant phenotype
10751153 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
10751153 GOA
part of katanin complex IDA
IDA: Inferred from direct assay
9568719 GOA
part of katanin complex IPI
IPI: Inferred from physical interaction
26929214 GOA
located in microtubule IDA
IDA: Inferred from direct assay
26929214 GOA
located in spindle IDA
IDA: Inferred from direct assay
26929214 GOA
located in spindle pole IDA
IDA: Inferred from direct assay
10751153 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

KATNB1 Protein Structure

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.
Protein Preferred Names Protein Names

katanin p80 WD40 repeat-containing subunit B1

  • katanin (80 kDa)

KATNB1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
KATNB1 Q9BVA0 KATNA1 Homo sapiens O75449 26929214
Intra
KATNB1 Q9BVA0 KATNA1 Homo sapiens O75449
TAP
26929214
Intra
KATNB1 Q9BVA0 BTK Homo sapiens Q06187 33961781
Intra
KATNB1 Q9BVA0 BTK Homo sapiens Q06187 28514442
Intra
KATNB1 Q9BVA0 KATNAL1 Homo sapiens Q9BW62 26929214
Intra
KATNB1 Q9BVA0 KATNAL1 Homo sapiens Q9BW62
TAP
26929214
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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

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

Orthologs Information

Species Symbol Source 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
Others KATNB1 NCBI