TULP1

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Tubby like protein 1
Protein TULP1 PDB 2fim.png
PDB rendering based on 2fim.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols TULP1 ; LCA15; RP14; TUBL1
External IDs OMIM602280 MGI109571 HomoloGene2491 GeneCards: TULP1 Gene
RNA expression pattern
PBB GE TULP1 206705 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 7287 22157
Ensembl ENSG00000112041 ENSMUSG00000037446
UniProt O00294 Q9Z273
RefSeq (mRNA) NM_003322 NM_021478
RefSeq (protein) NP_003313 NP_067453
Location (UCSC) Chr 6:
35.47 – 35.48 Mb
Chr 17:
28.35 – 28.37 Mb
PubMed search [1] [2]

Tubby-related protein 1 is a protein that in humans is encoded by the TULP1 gene.[1][2][3]

TULP1 is a member of a family of tubby-like genes (TULPs) that encode proteins of unknown function. Members of this family have been identified in plants, vertebrates, and invertebrates. The TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. TULP1 is a candidate gene for retinitis pigmentosa-14 (RP). Mutation in TULP1 is a rare cause of recessive RP and TULP1 plays an essential role in the physiology of photoreceptors.[3]

References[edit]

  1. ^ North MA, Naggert JK, Yan Y, Noben-Trauth K, Nishina PM (May 1997). "Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases". Proc Natl Acad Sci U S A 94 (7): 3128–33. doi:10.1073/pnas.94.7.3128. PMC 20333. PMID 9096357. 
  2. ^ Banerjee P, Lewis CA, Kleyn PW, Shugart YY, Ross BM, Penchaszadeh GK, Ott J, Jacobson SG, Gilliam TC, Knowles JA (Jun 1998). "Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3". Genomics 48 (2): 171–7. doi:10.1006/geno.1997.5174. PMID 9521870. 
  3. ^ a b "Entrez Gene: TULP1 tubby like protein 1". 

Further reading[edit]