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TULP1

From Wikipedia, the free encyclopedia
TULP1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesTULP1, LCA15, RP14, TUBL1, tubby like protein 1, TUB like protein 1
External IDsOMIM: 602280; MGI: 109571; HomoloGene: 2491; GeneCards: TULP1; OMA:TULP1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_003322
NM_001289395

NM_021478

RefSeq (protein)

NP_001276324
NP_003313

NP_067453

Location (UCSC)Chr 6: 35.5 – 35.51 MbChr 17: 28.57 – 28.58 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Tubby-related protein 1 is a protein that in humans is encoded by the TULP1 gene.[5][6][7]

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.[7]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000112041Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037446Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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. Bibcode:1997PNAS...94.3128N. doi:10.1073/pnas.94.7.3128. PMC 20333. PMID 9096357.
  6. ^ 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.
  7. ^ a b "Entrez Gene: TULP1 tubby like protein 1".

Further reading

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