IFT81 (intraflagellar transport 81)

2003-12-01  

Identity

HGNC
IFT81
LOCATION
12q24.11
LOCUSID
28981
ALIAS
CDV-1,CDV-1R,CDV1,CDV1R,DV1,SRTD19
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 28981
MIM: 605489
HGNC: 14313
Ensembl: ENSG00000122970

Variants:

dbSNP: 28981
ClinVar: 28981
TCGA: ENSG00000122970
COSMIC: IFT81

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000122970ENST00000242591Q8WYA0
ENSG00000122970ENST00000242591A0A024RBJ1
ENSG00000122970ENST00000546374F8W1J4
ENSG00000122970ENST00000550156H0YHE2
ENSG00000122970ENST00000551273H0YIR4
ENSG00000122970ENST00000552912Q8WYA0
ENSG00000122970ENST00000552912A0A024RBJ1

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Intraflagellar transportREACTOMER-HSA-5620924

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
239905612013Molecular basis of tubulin transport within the cilium by IFT74 and IFT81.110
284600502017IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration.4
300809532018Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.3
125498212002Identification 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