SAXO1 (stabilizer of axonemal microtubules 1)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 158297
Gene name Stabilizer of axonemal microtubules 1
Gene symbol SAXO1
Synonyms (NCBI Gene)
C9orf138FAM154A
Chromosome 9
Chromosome location 9p22.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (26)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 23088713, 25416956, 25910212, 26871637, 31515488, 32296183, 32814053
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IEA
GO:0005814 Component Centriole IBA
GO:0005814 Component Centriole IDA 25673876
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616292 28566 ENSG00000155875
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IYX7
Protein name Stabilizer of axonemal microtubules 1
Protein function May play a role in the regulation of cilium length. Stabilizes microtubules at low temperature.
Family and domains
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with highest levels in testis. Expressed in mature spermatozoa (at protein level). {ECO:0000269|PubMed:25673876}.
Sequence 
MKTKCICELCSCGRHHCPHLPTKIYDKTEKPCLLSEYTENYPFYHSYLPRESFKPRREYQ
KGPIPMEGLTTSRRDFGPHKVAPVKVHQYDQFVPSEENMDLLTTYKKDYNPYPVCRVDPI
KPRDSKYPCSDKMECLPTYKADYLPWNQPRREPLRLEHKYQPASVRFDNRTTHQDDYPIK
GLVKTISCKPLAMPKLCNIPLEDVTNYKMSYVAHPVEKRFVHEAEKFRPCEIPFESLTTQ
KQSYRGLMGEPAKSLKPLARPPGLDMPFCNTTEFRDKYQAWPMPRMFSKAPITYVPPEDR
MDLLTTVQAHYTCPKGAPAQSCRPALQIKKCGRFEGSSTTKDDYKQWSSMRTEPVKPVPQ
LDLPTEPLDCLTTTRAHYVPHLPINTKSCKPHWSGPRGNVPVESQTTYTISFTPKEMGRC
LASYPEPPGYTFEEVDALGHRIYKPVSQAGSQQSSHLSVDDSENPNQRELEVLA
Sequence length 474
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (5)
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
ASTHMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BENIGN NEOPLASM — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BENIGN OVARIAN NEOPLASM — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthma Asthma GWASCAT_DG 25918132
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★★★★★
★☆☆☆☆
Found in Text Mining only
Non-Small Cell Lung Carcinoma Lung carcinoma GWASDB_DG 23144319
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma Lung carcinoma GWASCAT_DG 23144319
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations