ACTRT1 (actin related protein T1)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
139741
Gene name Gene Name - the full gene name approved by the HGNC.
Actin related protein T1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ACTRT1
Synonyms (NCBI Gene) Gene synonyms aliases
AIP1, ARIP1, ARPT1, HSD27
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq25
Summary Summary of gene provided in NCBI Entrez Gene.
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 information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
GO ID Ontology Definition Evidence Reference
GO:0003682 Function Chromatin binding IBA 21873635
GO:0003682 Function Chromatin binding IDA 28869610
GO:0005634 Component Nucleus IBA 21873635
GO:0005634 Component Nucleus IDA 28869610
GO:0005737 Component Cytoplasm IDA 28869610
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300487 24027 ENSG00000123165
Protein
Gene Gene ontology Other IDs Protein Associated diseases
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
Sequence length 376
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Carcinoma Carcinoma, Basal Cell rs121912654, rs555607708, rs786202962, rs1564055259 30653245
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Prostate cancer Prostate cancer Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. GWAS, CBGDA
Show/Hide Text Mining Associations (7)
Associations from Text Mining
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