TULP1

This gene encodes a member of the tubby-like gene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. The protein encoded by this gene is thought to play a role in the physiology of photoreceptors. Mutations in this gene are associated with recessive juvenile retinitis pigmentosa and Leber congenital amaurosis-15. [provided by RefSeq, Nov 2016]

Description

TUB like protein 1

Protein family

Disease related genes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Protein evidence (Peptideatlas)

Chromosome

6:p21.31 (35497874 - 35512896)

Ensembl ID

ENSG00000112041  (ver. 99.38)

Orthologs

Mouse Tulp1: ENSMUSG00000037446

UniProt

O00294

neXtProt

NX_O00294

Human splice variants
Mouse splice variants