Identity
HGNC
LOCATION
12q24.11
LOCUSID
ALIAS
CDV-1,CDV-1R,CDV1,CDV1R,DV1,SRTD19
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 28981
MIM: 605489
HGNC: 14313
Ensembl: ENSG00000122970
Variants:
dbSNP: 28981
ClinVar: 28981
TCGA: ENSG00000122970
COSMIC: IFT81
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Organelle biogenesis and maintenance | REACTOME | R-HSA-1852241 |
| Cilium Assembly | REACTOME | R-HSA-5617833 |
| Intraflagellar transport | REACTOME | R-HSA-5620924 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34888642 | 2022 | Impaired cooperation between IFT74/BBS22-IFT81 and IFT25-IFT27/BBS19 causes Bardet-Biedl syndrome. | 14 |
| 34888642 | 2022 | Impaired cooperation between IFT74/BBS22-IFT81 and IFT25-IFT27/BBS19 causes Bardet-Biedl syndrome. | 14 |
| 32783357 | 2020 | Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome. | 2 |
| 32783357 | 2020 | Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome. | 2 |
| 30080953 | 2018 | Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias. | 10 |
| 30080953 | 2018 | Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias. | 10 |
| 28460050 | 2017 | IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration. | 9 |
| 28460050 | 2017 | IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration. | 9 |
| 23990561 | 2013 | Molecular basis of tubulin transport within the cilium by IFT74 and IFT81. | 169 |
| 23990561 | 2013 | Molecular basis of tubulin transport within the cilium by IFT74 and IFT81. | 169 |
| 12549821 | 2002 | Identification of human CDV-1R and mouse Cdv-1R, two novel proteins with putative signal peptides, especially highly expressed in testis and increased with the male sex maturation. | 2 |
| 12549821 | 2002 | Identification of human CDV-1R and mouse Cdv-1R, two novel proteins with putative signal peptides, especially highly expressed in testis and increased with the male sex maturation. | 2 |
Citation
Dessen P
IFT81 (intraflagellar transport 81)
Atlas Genet Cytogenet Oncol Haematol. 2003-12-01
Online version: http://atlasgeneticsoncology.org/gene/40042/ift81-(intraflagellar-transport-81)
