ACTRT1 gene

actin related protein T1

The information on this page was automatically extracted from online scientific databases.

From NCBI 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 and is similar to a related gene located on chromosome 1. A related pseudogene has also been identified approximately 75 kb downstream of this gene on chromosome X. [provided by RefSeq, May 2010]

From UniProt:

Negatively regulates the Hedgehog (SHH) signaling. Binds to the promoter of the SHH signaling mediator, GLI1, and inhibits its expression.

From UniProt:

Mutations and insertions in the coding sequence or in regulatory non-coding elements of this gene may be associated with Bazex syndrome; a cancer-prone genodermatosis with an X-linked dominant inheritance pattern.

Cytogenetic Location: Xq25, which is the long (q) arm of the X chromosome at position 25

Molecular Location: base pairs 128,050,962 to 128,052,403 on the X chromosome (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: Xq25, which is the long (q) arm of the X chromosome at position 25
  • AIP1
  • ARIP1
  • ARPT1
  • HSD27