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
357529272022Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility.2
357529272022Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility.2
246648042014A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes.22
249130272014Lack of association of KATNAL1 gene sequence variants and azoospermia in humans.4
246648042014A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes.22
249130272014Lack of association of KATNAL1 gene sequence variants and azoospermia in humans.4
205199562010KL1 is a novel microtubule severing enzyme that regulates mitotic spindle architecture.15
205199562010KL1 is a novel microtubule severing enzyme that regulates mitotic spindle architecture.15

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-(katanin-catalytic-subunit-a1-like-1)