Gene Gene information from NCBI Gene database.
Entrez ID 84056
Gene name Katanin catalytic subunit A1 like 1
Gene symbol KATNAL1
Synonyms (NCBI Gene)
-
Chromosome 13
Chromosome location 13q12.3
miRNA miRNA information provided by mirtarbase database.
790
miRTarBase ID miRNA Experiments Reference
MIRT020108 hsa-miR-130b-3p Sequencing 20371350
MIRT020462 hsa-miR-106b-5p Microarray 17242205
MIRT021101 hsa-miR-186-5p Sequencing 20371350
MIRT023241 hsa-miR-122-5p Microarray 17612493
MIRT024243 hsa-miR-218-5p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000922 Component Spindle pole IDA 26929214
GO:0000922 Component Spindle pole IEA
GO:0005515 Function Protein binding IPI 16189514, 25416956, 26929214, 31515488, 32296183, 33961781
GO:0005524 Function ATP binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614764 28361 ENSG00000102781
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BW62
Protein name Katanin p60 ATPase-containing subunit A-like 1 (Katanin p60 subunit A-like 1) (EC 5.6.1.1) (p60 katanin-like 1)
Protein function Regulates microtubule dynamics in Sertoli cells, a process that is essential for spermiogenesis and male fertility. Severs microtubules in an ATP-dependent manner, promoting rapid reorganization of cellular microtubule arrays (By similarity). Ha
PDB 6B5C
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00004 AAA 244 380 ATPase family associated with various cellular activities (AAA) Domain
PF17862 AAA_lid_3 402 463 AAA+ lid domain Domain
PF09336 Vps4_C 439 488 Vps4 C terminal oligomerisation domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in testis, restricted to Sertoli cells (at protein level). {ECO:0000269|PubMed:22654668}.
Sequence
MNLAEICDNAKKGREYALLGNYDSSMVYYQGVMQQIQRHCQSVRDPAIKGKWQQVRQELL
EEYEQVKSIVSTLESFKIDKPPDFPVSCQDEPFRDPAVWPPPVPAEHRAPPQIRRPNREV
RPLRKEMAGVGARGPVGRAHPISKSEKPSTSRDKDYRARGRDDKGRKNMQDGASDGEMPK
FDGAGYDKDLVEALERDIVSRNPSIHWDDIADLEEAKKLLREAVVLPMWMPDFFKGIRRP
WKGVLMVGPPGTGKTMLAKAVATECGTTFFNVSSSTLTSKYRGESEKLVRLLFEMARFYA
PTTIFIDEIDSICSRRGTSDEHEASRRVKSELLIQMDGVGGALENDDPSKMVMVLAATNF
PWDIDEALRRRLEKRIYIPL
PTAKGRAELLKINLREVELDPDIQLEDIAEKIEGYSGADI
TNVCRDASLMAMRRRING
LSPEEIRALSKEELQMPVTKGDFELALKKIAKSVSAADLEKY
EKWMVEFG
SA
Sequence length 490
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANTI-NEUTROPHIL ANTIBODY ASSOCIATED VASCULITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Azoospermia Azoospermia BEFREE 24913027
★☆☆☆☆
Found in Text Mining only
Dermatitis Atopic Atopic dermatitis Pubtator 24664804 Associate
★☆☆☆☆
Found in Text Mining only
Eczema Eczema Pubtator 24664804 Associate
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy Pubtator 33023587 Associate
★☆☆☆☆
Found in Text Mining only
Infertility Male Male infertility Pubtator 24913027 Associate
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation BEFREE 24664804, 28373692
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Intellectual developmental disorder Pubtator 24664804 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer BEFREE 31800303
★☆☆☆☆
Found in Text Mining only
Microcephaly Microcephaly Pubtator 24664804 Associate
★☆☆☆☆
Found in Text Mining only
Microcephaly Microcephaly BEFREE 28373692
★☆☆☆☆
Found in Text Mining only