KATNB1 - katanin regulatory subunit B1 Gene

Homo sapiens

Also known as KAT; LIS6

Gene ID: 10300 | Gene type: protein coding

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

KATNB1 Protein Structure

WD40

Katanin_con80

0
200
400
600
655 a.a.

Protein Preferred Names

Protein Names

katanin p80 WD40 repeat-containing subunit B1

katanin (80 kDa)

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07087	KATNB1 Human Pre-designed siRNA Set A		/	Unkown

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

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