KATNAL1 (katanin catalytic subunit A1 like 1)

2014-11-01  

Identity

HGNC
KATNAL1
LOCATION
13q12.3
LOCUSID
84056
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84056
MIM: 614764
HGNC: 28361
Ensembl: ENSG00000102781

Variants:

dbSNP: 84056
ClinVar: 84056
TCGA: ENSG00000102781
COSMIC: KATNAL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102781ENST00000380615Q9BW62
ENSG00000102781ENST00000380615A0A024RDP8
ENSG00000102781ENST00000380617Q9BW62
ENSG00000102781ENST00000380617A0A024RDP8
ENSG00000102781ENST00000414289A2A3H2
ENSG00000102781ENST00000441394Q5T558

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
205199562010KL1 is a novel microtubule severing enzyme that regulates mitotic spindle architecture.12
246648042014A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes.11
249130272014Lack of association of KATNAL1 gene sequence variants and azoospermia in humans.2

Citation

Dessen P

KATNAL1 (katanin catalytic subunit A1 like 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64742/katnal1