TULP1 (TUB like protein 1)

2014-11-01  

Identity

HGNC
LOCATION
6p21.31
LOCUSID
ALIAS
LCA15,RP14,TUBL1

Other Information

Locus ID:

NCBI: 7287
MIM: 602280
HGNC: 12423
Ensembl: ENSG00000112041

Variants:

dbSNP: 7287
ClinVar: 7287
TCGA: ENSG00000112041
COSMIC: TULP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112041ENST00000229771O00294
ENSG00000112041ENST00000322263O00294
ENSG00000112041ENST00000428978Q5TGM7
ENSG00000112041ENST00000614066A0A087WT25

Expression (GTEx)

0
1
2

References

Pubmed IDYearTitleCitations
209784722010Tubby and tubby-like protein 1 are new MerTK ligands for phagocytosis.71
228417842012Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection.46
198370632010Identification of tubby and tubby-like protein 1 as eat-me signals by phage display.29
205914862010Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.22
179624692007Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.20
184323142008A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.14
176205732007Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.13
226059272012Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa.13
226659692012Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa.13
234990592013Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.13

Citation

Dessen P

TULP1 (TUB like protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75377/tulp1