ACTL8 (actin like 8)

Gene

• Entrez ID: 81569
• Gene name: Actin like 8
• Gene symbol: ACTL8
• Synonyms (NCBI Gene): CT57
• Chromosome: 1
• Chromosome location: 1p36.13

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT027635	hsa-miR-98-5p	Microarray	19088304
MIRT050081	hsa-miR-26a-5p	CLASH	23622248
MIRT045052	hsa-miR-186-5p	CLASH	23622248
MIRT045052	hsa-miR-186-5p	CLASH	23622248
MIRT038185	hsa-miR-148b-5p	CLASH	23622248
MIRT764001	hsa-miR-1266	CLIP-seq
MIRT764002	hsa-miR-361-3p	CLIP-seq
MIRT764003	hsa-miR-3664-3p	CLIP-seq
MIRT764004	hsa-miR-4433	CLIP-seq
MIRT764005	hsa-miR-4459	CLIP-seq
MIRT764006	hsa-miR-4518	CLIP-seq
MIRT764007	hsa-miR-4676-5p	CLIP-seq
MIRT764008	hsa-miR-4768-3p	CLIP-seq
MIRT764009	hsa-miR-505	CLIP-seq
MIRT764010	hsa-miR-575	CLIP-seq
MIRT2425927	hsa-miR-4267	CLIP-seq
MIRT2425928	hsa-miR-4749-3p	CLIP-seq
MIRT2425927	hsa-miR-4267	CLIP-seq
MIRT2425928	hsa-miR-4749-3p	CLIP-seq
MIRT2425927	hsa-miR-4267	CLIP-seq
MIRT2425928	hsa-miR-4749-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005884	Component	Actin filament	IBA
GO:0007409	Process	Axonogenesis	IBA
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0016020	Component	Membrane	IBA
GO:0019901	Function	Protein kinase binding	IBA
GO:0030424	Component	Axon	IBA
GO:0030855	Process	Epithelial cell differentiation	IEP	21492153
GO:0035267	Component	NuA4 histone acetyltransferase complex	IBA
GO:0045202	Component	Synapse	IBA
GO:0048870	Process	Cell motility	IBA
GO:0098973	Function	Structural constituent of postsynaptic actin cytoskeleton	IBA
GO:0098974	Process	Postsynaptic actin cytoskeleton organization	IEA

Other IDs

• MIM: 621132
• HGNC: 24018
• e!Ensembl: ENSG00000117148

Protein

• UniProt ID: Q9H568
• Protein name: Actin-like protein 8 (Cancer/testis antigen 57) (CT57)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00022	Actin	2 → 366	Actin	Family

• Tissue specificity: TISSUE SPECIFICITY: Strongly expressed in testis and pancreas. Weak expression in placenta. {ECO:0000269|PubMed:15905330}.
• Sequence:

  MAARTVIIDHGSGFLKAGTAGWNEPQMVFPNIVNYLPCKENPGPSYARRRVSLGIDICHP
  DTFSYPIERGRILNWEGVQYLWSFVLENHRREQEVPPVIITETPLREPADRKKMLEILFE
  LLHVPSVLLADQLQMSLYASGLLTGVVVDSGYGLTRVQPFHQGRPLPASGKTLEFAGQDL
  SAYLLKSLFKEDCDRRCLFQLETVAVTQMNKCYVPQNLGEALDFRERQQSALDESNTYQL
  PDGSRVELTPMQRVAPEMFFSPQVFEQPGPSIPRAIVESVESCEISLRPLLVSHVMACGG
  NTLYPGFTKRLFRELMGDHVSSTKATVWEGSNRNFSVWLGASVVAHLSTYQSEWMSREEY
  GEHMRM

• Sequence length: 366

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERECTILE DYSFUNCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Breast Neoplasms	Associate	24764584, 30535476	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	23592437, 30535476	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Associate	30535476	★☆☆☆☆ Found in Text Mining only