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Protein

Katanin p80 WD40 repeat-containing subunit B1

Gene

KATNB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.UniRule annotation1 Publication

GO - Molecular functioni

  • dynein complex binding Source: Ensembl
  • microtubule binding Source: UniProtKB
  • protein heterodimerization activity Source: UniProtKB

GO - Biological processi

  • cell cycle Source: UniProtKB-KW
  • cell division Source: UniProtKB-KW
  • microtubule severing Source: Ensembl
  • negative regulation of microtubule depolymerization Source: UniProtKB
  • positive regulation of cell death Source: Ensembl
  • positive regulation of microtubule depolymerization Source: UniProtKB
  • positive regulation of neuron projection development Source: Ensembl
  • protein targeting Source: UniProtKB

Keywordsi

Biological processCell cycle, Cell division, Mitosis

Enzyme and pathway databases

SignaLinkiQ9BVA0.

Names & Taxonomyi

Protein namesi
Recommended name:
Katanin p80 WD40 repeat-containing subunit B1UniRule annotation
Short name:
Katanin p80 subunit B1UniRule annotation
Alternative name(s):
p80 kataninUniRule annotation
Gene namesi
Name:KATNB1UniRule annotation
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:6217. KATNB1.

Subcellular locationi

GO - Cellular componenti

  • axon Source: Ensembl
  • centrosome Source: Ensembl
  • cytoplasm Source: UniProtKB
  • cytosol Source: HPA
  • growth cone Source: Ensembl
  • katanin complex Source: MGI
  • membrane Source: UniProtKB
  • microtubule Source: UniProtKB-KW
  • microtubule cytoskeleton Source: HPA
  • midbody Source: Ensembl
  • neuronal cell body Source: Ensembl
  • nucleus Source: UniProtKB
  • plasma membrane Source: HPA
  • spindle pole Source: UniProtKB-SubCell

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Microtubule

Pathology & Biotechi

Involvement in diseasei

Lissencephaly 6, with microcephaly (LIS6)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:616212
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07331933G → W in LIS6. 1 PublicationCorresponds to variant dbSNP:rs730880259Ensembl.1
Natural variantiVAR_073320535S → L in LIS6; causes reduced interaction with KATNA1 and NDEL1. 1 PublicationCorresponds to variant dbSNP:rs730880257Ensembl.1
Natural variantiVAR_073321540L → R in LIS6. 1 PublicationCorresponds to variant dbSNP:rs730880258Ensembl.1

Keywords - Diseasei

Disease mutation, Lissencephaly

Organism-specific databases

DisGeNETi10300.
MalaCardsiKATNB1.
MIMi616212. phenotype.
OpenTargetsiENSG00000140854.
PharmGKBiPA30018.

Polymorphism and mutation databases

BioMutaiKATNB1.
DMDMi60390213.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000510491 – 655Katanin p80 WD40 repeat-containing subunit B1Add BLAST655

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei395PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9BVA0.
MaxQBiQ9BVA0.
PaxDbiQ9BVA0.
PeptideAtlasiQ9BVA0.
PRIDEiQ9BVA0.

PTM databases

iPTMnetiQ9BVA0.
PhosphoSitePlusiQ9BVA0.

Expressioni

Gene expression databases

BgeeiENSG00000140854.
CleanExiHS_KATNB1.
ExpressionAtlasiQ9BVA0. baseline and differential.
GenevisibleiQ9BVA0. HS.

Organism-specific databases

HPAiHPA041165.
HPA041839.

Interactioni

Subunit structurei

Interacts with PAFAH1B1 (By similarity). Interacts with KATNA1. This interaction enhances the microtubule binding and severing activity of KATNA1 and also targets this activity to the centrosome. Interacts with dynein, microtubules and NDEL1.By similarity2 Publications

GO - Molecular functioni

  • dynein complex binding Source: Ensembl
  • microtubule binding Source: UniProtKB
  • protein heterodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi115588. 24 interactors.
IntActiQ9BVA0. 4 interactors.
MINTiMINT-4989412.
STRINGi9606.ENSP00000368982.

Structurei

3D structure databases

ProteinModelPortaliQ9BVA0.
SMRiQ9BVA0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati18 – 58WD 1Add BLAST41
Repeati61 – 100WD 2Add BLAST40
Repeati103 – 142WD 3Add BLAST40
Repeati145 – 184WD 4Add BLAST40
Repeati187 – 226WD 5Add BLAST40
Repeati229 – 269WD 6Add BLAST41

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 300Interaction with centrosomesAdd BLAST300
Regioni1 – 284Interaction with dyneinBy similarityAdd BLAST284
Regioni285 – 434Interaction with PAFAH1B1By similarityAdd BLAST150
Regioni433 – 655Interaction with KATNA1 and NDEL1By similarityAdd BLAST223

Sequence similaritiesi

Belongs to the WD repeat KATNB1 family.UniRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG0267. Eukaryota.
ENOG410XQAC. LUCA.
GeneTreeiENSGT00810000125363.
HOGENOMiHOG000008039.
HOVERGENiHBG052294.
InParanoidiQ9BVA0.
KOiK18643.
OMAiDYVEVAL.
OrthoDBiEOG091G0DTV.
PhylomeDBiQ9BVA0.
TreeFamiTF332359.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
HAMAPiMF_03022. Katanin_p80_B1. 1 hit.
InterProiView protein in InterPro
IPR020472. G-protein_beta_WD-40_rep.
IPR026962. Katanin_bsu1.
IPR028021. Katanin_C-terminal.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
PfamiView protein in Pfam
PF13925. Katanin_con80. 1 hit.
PF00400. WD40. 5 hits.
PRINTSiPR00320. GPROTEINBRPT.
SMARTiView protein in SMART
SM00320. WD40. 6 hits.
SUPFAMiSSF50978. SSF50978. 1 hit.
PROSITEiView protein in PROSITE
PS00678. WD_REPEATS_1. 3 hits.
PS50082. WD_REPEATS_2. 5 hits.
PS50294. WD_REPEATS_REGION. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9BVA0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MATPVVTKTA WKLQEIVAHA SNVSSLVLGK ASGRLLATGG DDCRVNLWSI
60 70 80 90 100
NKPNCIMSLT GHTSPVESVR LNTPEELIVA GSQSGSIRVW DLEAAKILRT
110 120 130 140 150
LMGHKANICS LDFHPYGEFV ASGSQDTNIK LWDIRRKGCV FRYRGHSQAV
160 170 180 190 200
RCLRFSPDGK WLASAADDHT VKLWDLTAGK MMSEFPGHTG PVNVVEFHPN
210 220 230 240 250
EYLLASGSSD RTIRFWDLEK FQVVSCIEGE PGPVRSVLFN PDGCCLYSGC
260 270 280 290 300
QDSLRVYGWE PERCFDVVLV NWGKVADLAI CNDQLIGVAF SQSNVSSYVV
310 320 330 340 350
DLTRVTRTGT VARDPVQDHR PLAQPLPNPS APLRRIYERP STTCSKPQRV
360 370 380 390 400
KQNSESERRS PSSEDDRDER ESRAEIQNAE DYNEIFQPKN SISRTPPRRS
410 420 430 440 450
EPFPAPPEDD AATAKEAAKP SPAMDVQFPV PNLEVLPRPP VVASTPAPKA
460 470 480 490 500
EPAIIPATRN EPIGLKASDF LPAVKIPQQA ELVDEDAMSQ IRKGHDTMCV
510 520 530 540 550
VLTSRHKNLD TVRAVWTMGD IKTSVDSAVA INDLSVVVDL LNIVNQKASL
560 570 580 590 600
WKLDLCTTVL PQIEKLLQSK YESYVQTGCT SLKLILQRFL PLITDMLAAP
610 620 630 640 650
PSVGVDISRE ERLHKCRLCY KQLKSISGLV KSKSGLSGRH GSTFRELHLL

MASLD
Length:655
Mass (Da):72,334
Last modified:June 1, 2001 - v1
Checksum:i411903E306B6EC16
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti104H → L in AAC09328 (PubMed:9568719).Curated1
Sequence conflicti211R → G in AAC09328 (PubMed:9568719).Curated1
Sequence conflicti226C → R in AAC09328 (PubMed:9568719).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07331933G → W in LIS6. 1 PublicationCorresponds to variant dbSNP:rs730880259Ensembl.1
Natural variantiVAR_062099181M → V. Corresponds to variant dbSNP:rs60158050Ensembl.1
Natural variantiVAR_073320535S → L in LIS6; causes reduced interaction with KATNA1 and NDEL1. 1 PublicationCorresponds to variant dbSNP:rs730880257Ensembl.1
Natural variantiVAR_073321540L → R in LIS6. 1 PublicationCorresponds to variant dbSNP:rs730880258Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF052432 mRNA. Translation: AAC09328.1.
BT007022 mRNA. Translation: AAP35668.1.
CR456762 mRNA. Translation: CAG33043.1.
AC092118 Genomic DNA. No translation available.
CH471092 Genomic DNA. Translation: EAW82951.1.
BC001353 mRNA. Translation: AAH01353.1.
CCDSiCCDS10788.1.
RefSeqiNP_005877.2. NM_005886.2.
XP_016878352.1. XM_017022863.1.
XP_016878353.1. XM_017022864.1.
UniGeneiHs.275675.
Hs.732486.

Genome annotation databases

EnsembliENST00000379661; ENSP00000368982; ENSG00000140854.
GeneIDi10300.
KEGGihsa:10300.
UCSCiuc002eml.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiKTNB1_HUMAN
AccessioniPrimary (citable) accession number: Q9BVA0
Secondary accession number(s): A6NCG6, O60620
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 2005
Last sequence update: June 1, 2001
Last modified: August 30, 2017
This is version 146 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families