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Gene Gene information from NCBI Gene database.
Entrez ID 79647
Gene name Akirin 1
Gene symbol AKIRIN1
Synonyms (NCBI Gene)
C1orf108STRF2
Chromosome 1
Chromosome location 1p34.3
miRNA miRNA information provided by mirtarbase database.
732 Show/Hide all (732)
miRTarBase ID miRNA Experiments Reference
MIRT043549 hsa-miR-331-3p CLASH 23622248
MIRT669579 hsa-miR-150-5p HITS-CLIP 23824327
MIRT403798 hsa-miR-646 HITS-CLIP 23824327
MIRT669578 hsa-miR-8062 HITS-CLIP 23824327
MIRT669577 hsa-miR-6513-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28 Show/Hide all (28)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IBA
GO:0003712 Function Transcription coregulator activity IBA
GO:0005515 Function Protein binding IPI 25416956
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 18066067
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615164 25744 ENSG00000174574
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H9L7
Protein name Akirin-1
Protein function Molecular adapter that acts as a bridge between proteins, and which is involved skeletal muscle development (By similarity). Functions as a signal transducer for MSTN during skeletal muscle regeneration and myogenesis (By similarity). May regula
Family and domains
Tissue specificity TISSUE SPECIFICITY: Widely expressed with the highest expression in heart, liver, placenta and peripheral blood leukocytes. {ECO:0000269|PubMed:18066067}.
Sequence
MACGATLKRPMEFEAALLSPGSPKRRRCAPLPGPTPGLRPPDAEPPPPFQTQTPPQSLQQ
PAPPGSERRLPTPEQIFQNIKQEYSRYQRWRHLEVVLNQSEACASESQPHSSALTAPSSP
GSSWMKKDQPTFTLRQVGIICERLLKDYEDKIREEYEQILNTKLAEQYESFVKFTHDQIM
RRYGTRPTSYVS
Sequence length 192
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 Reference Evidence Score
AKIRIN1-related disorder Likely benign; Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations