RINT1 gene

RAD50 interactor 1

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

From NCBI Gene:

This gene encodes a protein first identified for its ability to interact with the RAD50 double strand break repair protein, with the resulting interaction implicated in the regulation of cell cycle progression and telomere length. The encoded protein may also play a role in trafficking of cellular cargo from the endosome to the trans-Golgi network. Mutations in this gene may be associated with breast cancer in human patients. [provided by RefSeq, Oct 2016]

From UniProt:

Involved in regulation of membrane traffic between the Golgi and the endoplasmic reticulum (ER); the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER. May play a role in cell cycle checkpoint control (PubMed:11096100). Essential for telomere length control (PubMed:16600870).

From NCBI Gene:

  • INFANTILE LIVER FAILURE SYNDROME 3

From UniProt:

Infantile liver failure syndrome 3 (ILFS3): A form of infantile liver failure syndrome, a life-threatening disorder of hepatic function that manifests with acute liver failure in the first months or years of life. ILFS3 is an autosomal recessive form characterized by recurrent episodes of acute liver failure often triggered by infection or fever. Affected individuals also have skeletal anomalies of the vertebral bodies and femoral heads. [MIM:618641]

Cytogenetic Location: 7q22.3, which is the long (q) arm of chromosome 7 at position 22.3

Molecular Location: base pairs 105,532,081 to 105,567,684 on chromosome 7 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 7q22.3, which is the long (q) arm of chromosome 7 at position 22.3
  • ILFS3
  • RINT-1