KATNB1
entrez
10300
canonical
uniprot
Q9BVA0
canonical
ensembl
ENSG00000140854
resolver
ensp
ENSP00000368982
resolver
ensp
ENSP00000544464
resolver
ensp
ENSP00000544467
resolver
ensp
ENSP00000544470
resolver
ensp
ENSP00000625923
resolver
enst
ENST00000379661
resolver
enst
ENST00000874405
resolver
enst
ENST00000874408
resolver
enst
ENST00000874411
resolver
enst
ENST00000955864
resolver
genesymbol
KATNB1
resolver
hgnc
HGNC:6217
resolver
uniprot
A6NCG6
resolver
uniprot
O60620
resolver
uniprot_entry
KTNB1_HUMAN
resolver
uniprot_sec
A6NCG6
resolver
uniprot_sec
O60620
resolver
amino_acid_sequence
MATPVVTKTAWKLQEIVAHASNVSSLVLGKASGRLLATGGDDCRVNLWSINKPNCIMSLTGHTSPVESVRLNTPEELIVAGSQSGSIRVWDLEAAKILRTLMGHKANICSLDFHPYGEFVASGSQDTNIKLWDIRRKGCVFRYRGHSQAVRCLRFSPDGKWLASAADDHTVKLWDLTAGKMMSEFPGHTGPVNVVEFHPNEYLLASGSSDRTIRFWDLEKFQVVSCIEGEPGPVRSVLFNPDGCCLYSGCQDSLRVYGWEPERCFDVVLVNWGKVADLAICNDQLIGVAFSQSNVSSYVVDLTRVTRTGTVARDPVQDHRPLAQPLPNPSAPLRRIYERPSTTCSKPQRVKQNSESERRSPSSEDDRDERESRAEIQNAEDYNEIFQPKNSISRTPPRRSEPFPAPPEDDAATAKEAAKPSPAMDVQFPVPNLEVLPRPPVVASTPAPKAEPAIIPATRNEPIGLKASDFLPAVKIPQQAELVDEDAMSQIRKGHDTMCVVLTSRHKNLDTVRAVWTMGDIKTSVDSAVAINDLSVVVDLLNIVNQKASLWKLDLCTTVLPQIEKLLQSKYESYVQTGCTSLKLILQRFLPLITDMLAAPPSVGVDISREERLHKCRLCYKQLKSISGLVKSKSGLSGRHGSTFRELHLLMASLD
uniprot
proteins
disease_involvement
DISEASE: Lissencephaly 6, with microcephaly (LIS6) [MIM:616212]: A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS6 features include hypoplasia of the corpus callosum, severe microcephaly and developmental delay. {ECO:0000269|PubMed:25521378, ECO:0000269|PubMed:25521379}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Participates in a complex which severs microtubules in an ATP-dependent manner. May act to target the enzymatic subunit of this complex to sites of action such as the centrosome. Microtubule severing may promote rapid reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Microtubule release from the mitotic spindle poles may allow depolymerization of the microtubule end proximal to the spindle pole, leading to poleward microtubule flux and poleward motion of chromosome. Microtubule release within the cell body of neurons may be required for their transport into neuronal processes by microtubule-dependent motor proteins. This transport is required for axonal growth. {ECO:0000255|HAMAP-Rule:MF_03022, ECO:0000269|PubMed:10751153}.
uniprot
proteins
mass_dalton
72334
uniprot
proteins
protein_family
WD repeat KATNB1 family
uniprot
proteins
pubmed
10751153
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
16203747
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24486153
uniprot
proteins
pubmed
25521378
uniprot
proteins
pubmed
25521379
uniprot
proteins
pubmed
26929214
uniprot
proteins
pubmed
9568719
uniprot
proteins
pubmed
9658175
uniprot
proteins
sequence_length
655
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:26929214, ECO:0000269|PubMed:9658175}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:16203747, ECO:0000269|PubMed:9568719}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:16203747, ECO:0000269|PubMed:26929214, ECO:0000269|PubMed:9658175}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:9568719, ECO:0000269|PubMed:9658175}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:26929214}. Note=Predominantly cytoplasmic. Localized to the interphase centrosome and mitotic spindle poles (PubMed:9658175). Localizes within the cytoplasm, partially overlapping with microtubules, in interphase and to the mitotic spindle and spindle poles during mitosis (PubMed:26929214). {ECO:0000269|PubMed:26929214, ECO:0000269|PubMed:9658175}.
uniprot
proteins