ACTRT1 (actin related protein T1)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 139741
Gene name Actin related protein T1
Gene symbol ACTRT1
Synonyms (NCBI Gene)
AIP1ARIP1ARPT1HSD27
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) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (15)
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
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
300487 24027 ENSG00000123165
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.
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
Sequence length 376
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
8
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ACTRT1-related disorder Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign rs771087307, rs199614384, rs1436421028, rs143652688, rs61745544, rs61741364, rs144040239 RCV003966207
RCV003936662
RCV003405892
RCV003947140
RCV003950418
RCV003957993
RCV003920669
Male infertility with azoospermia or oligozoospermia due to single gene mutation Conflicting classifications of pathogenicity rs771087307 RCV003991589
Show/Hide Text Mining Associations (7)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Bazex Dupre Christol syndrome Associate 33972689
Ciliopathies Associate 33972689
Heart defects limb shortening Associate 33972689
Hypotrichosis Associate 33972689
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa Associate 38614076
Neoplasms Basal Cell Associate 33972689
Skin Neoplasms Associate 33972689