KATNA1

katanin catalytic subunit A1, the group of AAA ATPases

Basic information

Region (hg38): 6:149594873-149648972

Links

ENSG00000186625

∙ NCBI:11104 ∙ OMIM:606696 ∙ HGNC:6216 ∙ Uniprot:O75449 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KATNA1 gene.

not_specified (60 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KATNA1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000007044.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			60 clinvar			60
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	60	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KATNA1	protein_coding	protein_coding	ENST00000367411	10	54100

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000168	0.999	125663	0	84	125747	0.000334

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.74	200	282	0.709	0.0000157	3213
Missense in Polyphen		73	122.92	0.59389		1334
Synonymous	0.402	90	95.0	0.947	0.00000531	922
Loss of Function	2.81	13	29.5	0.441	0.00000194	319

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000706	0.000704
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000110	0.000109
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000504	0.000501
Middle Eastern	0.000110	0.000109
South Asian	0.000166	0.000163
Other	0.000338	0.000326

dbNSFP

Source: dbNSFP

Function: FUNCTION: Catalytic subunit of a complex which severs microtubules in an ATP-dependent manner. 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_03023, ECO:0000269|PubMed:10751153, ECO:0000269|PubMed:11870226, ECO:0000269|PubMed:19287380}.;
Pathway: Lissencephaly gene (LIS1) in neuronal migration and development (Consensus)

Recessive Scores

pRec: 0.121

Intolerance Scores

loftool: 0.328
rvis_EVS: -0.07
rvis_percentile_EVS: 48.54

Haploinsufficiency Scores

pHI: 0.251
hipred: Y
hipred_score: 0.706
ghis: 0.504

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.632

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Katna1
Phenotype

Zebrafish Information Network

Gene name: katna1
Affected structure: motor neuron
Phenotype tag: abnormal
Phenotype quality: decreased length

Gene ontology

Biological process: cell cycle;cytoplasmic microtubule organization;microtubule severing;cell division
Cellular component: spindle pole;nucleus;cytoplasm;centrosome;spindle;microtubule;midbody;mitotic spindle pole
Molecular function: protein binding;ATP binding;microtubule binding;microtubule-severing ATPase activity;isomerase activity;ATPase activity;protein heterodimerization activity