ACTRT1 (actin related protein T1)

Gene

• Entrez ID: 139741
• Gene name: Actin related protein T1
• Gene symbol: ACTRT1
• Synonyms (NCBI Gene): AIP1, ARIP1, ARPT1, HSD27
• Chromosome: X
• Chromosome location: Xq25
• Summary: This gene encodes a protein related to the cytoskeletal protein beta-actin. This protein is a major component of the calyx in the perinuclear theca of mammalian sperm heads, and it therefore likely functions in spermatid formation. This gene is intronless

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001669	Component	Acrosomal vesicle	IDA	31429579
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0003682	Function	Chromatin binding	IBA
GO:0003682	Function	Chromatin binding	IDA	28869610
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	28869610
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	28869610
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IBA
GO:0008589	Process	Regulation of smoothened signaling pathway	IDA	28869610
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	28869610

Other IDs

• MIM: 300487
• HGNC: 24027
• e!Ensembl: ENSG00000123165

Protein

• UniProt ID: Q8TDG2
• Protein name: Actin-related protein T1 (ARP-T1)
• Protein function: Negatively regulates the Hedgehog (SHH) signaling. Binds to the promoter of the SHH signaling mediator, GLI1, and inhibits its expression.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00022	Actin	6 → 376	Actin	Family

• Tissue specificity: TISSUE SPECIFICITY: In skin, expressed in the basal, spinous and granular layers of the epidermis. Also expressed in hair follicles, sebaceaous glands, eccrine sweat glands and semen. {ECO:0000269|PubMed:28869610}.
• Sequence:

  MFNPHALDVPAVIFDNGSGLCKAGLSGEIGPRHVISSVLGHCKFNVPLARLNQKYFVGQE
  ALYKYEALHLHYPIERGLVTGWDDMEKLWKHLFERELGVKPSQQPVLMTEPSLNPREIRE
  KLAEMMFETFSVPGFYLSNHAVAALYASACVTGLVVDSGDGVTCTVPIFEGYSLPHAVTK
  LCMAGRDITEHLTRLLFASGFNFPCILNKAVVNNIKEKLCYIALEPEKELRKSRGEVLGA
  YRLPDGHVIHFGDELYQVPEVLFAPDQLGIHSPGLSKMVSSSIMKCDTDIQNKLYADIVL
  SGGTTLLPGLEERLMKEVEQLASKGTPIKITASPDRCFSAWIGASIMTSMSSFKQMWVTS
  ADFKEYGTSVVQRRCF

• Sequence length: 376

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
ACTRT1-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyloidosis	Amyloidosis	BEFREE	27714968		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	21700930, 25732743, 29731721, 30471213, 31619063		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	25732743, 29731721		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26139244		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22046421		★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	28869610		★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	GENOMICS_ENGLAND_DG	30653245		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	25732743		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	28348580		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	33972689	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29114386		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	25792565		★☆☆☆☆ Found in Text Mining only
Follicular atrophoderma and basal cell epitheliomata	Follicular Atrophoderma And Basal Cell Epitheliomata	BEFREE	28869610		★☆☆☆☆ Found in Text Mining only
Follicular atrophoderma and basal cell epitheliomata	Follicular Atrophoderma And Basal Cell Epitheliomata	GENOMICS_ENGLAND_DG	28869610		★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	Pubtator	33972689	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	29114386		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26139244		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22046421		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	26139244		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26139244		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	33972689	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30464518		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	29731721		★☆☆☆☆ Found in Text Mining only