TULP1

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TULP1
Protein TULP1 PDB 2fim.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases TULP1, LCA15, RP14, TUBL1, tubby like protein 1
External IDs MGI: 109571 HomoloGene: 2491 GeneCards: TULP1
RNA expression pattern
PBB GE TULP1 206705 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_003322
NM_001289395

NM_021478

RefSeq (protein)

NP_001276324
NP_003313

NP_067453.1
NP_067453

Location (UCSC) Chr 6: 35.5 – 35.51 Mb Chr 17: 28.35 – 28.37 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Tubby-related protein 1 is a protein that in humans is encoded by the TULP1 gene.[3][4][5]

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.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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 20333Freely accessible. PMID 9096357. 
  4. ^ 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. 
  5. ^ a b "Entrez Gene: TULP1 tubby like protein 1". 

Further reading[edit]