Gene Gene information from NCBI Gene database.
Entrez ID 389658
Gene name ALK and LTK ligand 1
Gene symbol ALKAL1
Synonyms (NCBI Gene)
AUGAAUGBFAM150AUNQ9433
Chromosome 8
Chromosome location 8q11.23
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0005125 Function Cytokine activity IDA 34646012, 34819673
GO:0005125 Function Cytokine activity IEA
GO:0005515 Function Protein binding IPI 26418745
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619670 33775 ENSG00000196711
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6UXT8
Protein name ALK and LTK ligand 1 (Augmentor beta) (AUG-beta)
Protein function Cytokine that acts as a physiological ligand for receptor tyrosine kinase LTK, leading to its activation (PubMed:25331893, PubMed:26418745, PubMed:26630010, PubMed:34646012, PubMed:34819673). Monomeric ALKAL1 binds to LTK, leading to LTK homodim
PDB 7MK7 , 7MZZ , 7NX0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15129 FAM150 51 129 FAM150 family Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed with highest levels in thyroid and moderate levels in stomach, trachea, small intestine, prostate and brain. {ECO:0000269|PubMed:25331893}.
Sequence
Sequence length 129
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
LUNG CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Autoimmune Diseases Associate 34646012
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Associate 22610075, 25332168, 29520901
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 29520901
★☆☆☆☆
Found in Text Mining only