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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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KATNB1
katanin regulatory subunit B1
Chromosome 16 Β· 16q21
NCBI Gene: 10300Ensembl: ENSG00000140854.14HGNC: HGNC:6217UniProt: Q9BVA0
60PubMed Papers
21Diseases
0Drugs
13Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingprotein heterodimerization activityATPase regulator activitynegative regulation of microtubule depolymerizationmicrolissencephalyLissencephalygenetic disorderLissencephaly syndrome, Norman-Roberts type
✦AI Summary

KATNB1 encodes the regulatory p80 subunit of katanin, a microtubule-severing enzyme complex that functions in ATP-dependent microtubule reorganization 1. The protein serves multiple critical roles in cellular processes by modulating the enzymatic activity and subcellular localization of the catalytic KATNA1 subunit 2. KATNB1 is essential for normal brain development, with mutations causing severe microlissencephaly through disruption of asymmetrically dividing neural progenitors and defective mitotic spindle formation 3. The protein regulates centriole and cilia number, affecting Sonic hedgehog signaling pathways crucial for neocortical development 4. During spermatogenesis, KATNB1 localizes to microtubule-based structures including the manchette and is involved in sperm head shaping and flagellum formation 15. Additionally, KATNB1 plays roles in cardiac development, with mutations causing left-right asymmetry defects and heart malformations in mouse models 6. The gene's expression is transcriptionally regulated by Elk1 and post-transcriptionally modulated by miR-124-3p 27. Clinically, KATNB1 mutations are associated with complex cerebral malformations and have been implicated in cancer progression through the MALAT1/miR-328/KATNB1 pathway 8.

Sources cited
1
KATNB1 encodes accessory subunit of katanin microtubule-severing enzyme and localizes to sperm manchette structures
PMID: 25280067
2
KATNB1 mutations cause microlissencephaly through disruption of neural progenitor division and mitotic spindle defects
PMID: 25521378
3
KATNB1 regulates centriole and cilia number and is essential for Sonic hedgehog signaling in brain development
PMID: 25521379
4
KATNB1 expression during spermatogenesis and involvement in microtubule-based structure formation
PMID: 27717557
5
KATNB1 mutations cause cardiac malformations and left-right asymmetry defects
PMID: 28791777
6
KATNB1 transcriptional regulation by Elk1 transcription factor
PMID: 23894477
7
miR-124-3p as posttranscriptional regulator of katanin
PMID: 37439368
8
KATNB1 involvement in cancer progression through MALAT1/miR-328/KATNB1 pathway
PMID: 36934373
Disease Associationsβ“˜21
microlissencephalyOpen Targets
0.65Moderate
LissencephalyOpen Targets
0.52Moderate
genetic disorderOpen Targets
0.41Moderate
Lissencephaly syndrome, Norman-Roberts typeOpen Targets
0.37Weak
placenta praeviaOpen Targets
0.27Weak
Intellectual disabilityOpen Targets
0.15Weak
azoospermiaOpen Targets
0.10Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure 78Open Targets
0.06Suggestive
spermatogenic failure 65Open Targets
0.06Suggestive
spermatogenic failure 54Open Targets
0.06Suggestive
spermatogenic failure 84Open Targets
0.06Suggestive
spermatogenic failure 93Open Targets
0.06Suggestive
spermatogenic failure 56Open Targets
0.06Suggestive
spermatogenic failure 92Open Targets
0.06Suggestive
spermatogenic failure 94Open Targets
0.06Suggestive
spermatogenic failure 39Open Targets
0.06Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.06Suggestive
spermatogenic failure 58Open Targets
0.06Suggestive
spermatogenic failure 40Open Targets
0.06Suggestive
Lissencephaly 6, with microcephalyUniProt
Pathogenic Variants13
NM_005886.3(KATNB1):c.1416+1G>ALikely pathogenic
Lissencephaly 6 with microcephaly|KATNB1-related disorder|Familial cancer of breast
β˜…β˜…β˜†β˜†2022
NM_005886.3(KATNB1):c.970C>T (p.Gln324Ter)Pathogenic
Lissencephaly 6 with microcephaly
β˜…β˜†β˜†β˜†2026β†’ Residue 324
NM_005886.3(KATNB1):c.97G>T (p.Gly33Trp)Pathogenic
Lissencephaly 6 with microcephaly
β˜…β˜†β˜†β˜†2024β†’ Residue 33
NM_005886.3(KATNB1):c.161del (p.Asn54fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 54
NM_005886.3(KATNB1):c.508_509delinsCATCTG (p.Thr170fs)Likely pathogenic
KATNB1-related disorder
β˜…β˜†β˜†β˜†2022β†’ Residue 170
NM_005886.3(KATNB1):c.131_147del (p.Arg44fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2022β†’ Residue 44
NM_005886.3(KATNB1):c.888del (p.Ser297fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 297
NM_005886.3(KATNB1):c.1061C>G (p.Ser354Ter)Likely pathogenic
Lissencephaly 6 with microcephaly
β˜…β˜†β˜†β˜†β†’ Residue 354
NM_005886.3(KATNB1):c.432+1G>APathogenic
Lissencephaly 6 with microcephaly
β˜†β˜†β˜†β˜†2014
NM_005886.3(KATNB1):c.1619T>G (p.Leu540Arg)Pathogenic
Lissencephaly 6 with microcephaly
β˜†β˜†β˜†β˜†2014β†’ Residue 540
NM_005886.3(KATNB1):c.1A>G (p.Met1Val)Pathogenic
Lissencephaly 6 with microcephaly
β˜†β˜†β˜†β˜†2014β†’ Residue 1
NM_005886.3(KATNB1):c.1604C>T (p.Ser535Leu)Pathogenic
Lissencephaly 6 with microcephaly
β˜†β˜†β˜†β˜†2014β†’ Residue 535
NM_005886.3(KATNB1):c.447del (p.Val150fs)Pathogenic
Lissencephaly 6 with microcephaly
β˜†β˜†β˜†β˜†2014β†’ Residue 150
View on ClinVar β†—
Related Genes
TUBA1AProtein interaction100%KATNBL1Protein interaction96%LZTS2Protein interaction83%TUBG1Protein interaction74%TUBB2AProtein interaction74%KATNIPProtein interaction73%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
76%
Lung
47%
Ovary
42%
Liver
33%
Heart
32%
Gene Interaction Network
Click a node to explore
KATNB1TUBA1AKATNBL1LZTS2TUBG1TUBB2AKATNIP
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9BVA0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.65LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.50 [0.38–0.65]
RankingsWhere KATNB1 stands among ~20K protein-coding genes
  • #7,675of 20,598
    Most Researched60
  • #2,605of 5,498
    Most Pathogenic Variants13
  • #4,729of 17,882
    Most Constrained (LOEUF)0.65
Genes detectedKATNB1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
KATNB1 in the human testis and its genetic variants in fertile and oligoasthenoteratozoospermic infertile men.
PMID: 25280067
Andrology Β· 2014
1.00
2
Mutations in the Katnb1 gene cause left-right asymmetry and heart defects.
PMID: 28791777
Dev Dyn Β· 2017
0.90
3
Expression of katanin p80 in human spermatogenesis.
PMID: 27717557
Fertil Steril Β· 2016
0.80
4
Katanin p80 regulates human cortical development by limiting centriole and cilia number.
PMID: 25521379
Neuron Β· 2014
0.70
5
Katanin-p80 gene promoter characterization and regulation via Elk1.
PMID: 23894477
PLoS One Β· 2013
0.60