IFT88 (intraflagellar transport 88)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 8100
Gene name Intraflagellar transport 88
Gene symbol IFT88
Synonyms (NCBI Gene)
D13S1056EDAF19TG737TTC10hTg737
Chromosome 13
Chromosome location 13q12.11
Summary This gene encodes a member of the tetratrico peptide repeat (TPR) family. The encoded protein is involved in cilium biogenesis. Mutations of a similar gene in mouse can cause polycystic kidney disease. Several transcript variants encoding distinct isoform
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
53
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (53)
GO ID Ontology Definition Evidence Reference
GO:0001822 Process Kidney development IBA
GO:0002177 Component Manchette ISS
GO:0005515 Function Protein binding IPI 25564561, 27767179, 30388400, 32296183
GO:0005730 Component Nucleolus IDA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600595 20606 ENSG00000032742
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13099
Protein name Intraflagellar transport protein 88 homolog (Recessive polycystic kidney disease protein Tg737 homolog) (Tetratricopeptide repeat protein 10) (TPR repeat protein 10)
Protein function Positively regulates primary cilium biogenesis (PubMed:17604723). Also involved in autophagy since it is required for trafficking of ATG16L and the expansion of the autophagic compartment. {ECO:0000250|UniProtKB:Q61371, ECO:0000269|PubMed:176047
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13181 TPR_8 281 → 314 Tetratricopeptide repeat Repeat
PF13174 TPR_6 664 → 696 Tetratricopeptide repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in the heart, brain, liver, lung, kidney, skeletal muscle and pancreas. {ECO:0000269|PubMed:7633404}.
Sequence 
MMQNVHLAPETDEDDLYSGYNDYNPIYDIEELENDAAFQQAVRTSHGRRPPITAKISSTA
VTRPIATGYGSKTSLASSIGRPMTGAIQDGVTRPMTAVRAAGFTKAALRGSAFDPLSQSR
GPASPLEAKKKDSPEEKIKQLEKEVNELVEESCIANSCGDLKLALEKAKDAGRKERVLVR
QREQVTTPENINLDLTYSVLFNLASQYSVNEMYAEALNTYQVIVKNKMFSNAGILKMNMG
NIYLKQRNYSKAIKFYRMALDQVPSVNKQMRIKIMQNIGVTFIQAGQYSDAINSYEHIMS
MAPNLKAGYNLTICYFAIGDREKMKKAFQKLITVPLEIDEDKYISPSDDPHTNLVTEAIK
NDHLRQMERERKAMAEKYIMTSAKLIAPVIETSFAAGYDWCVEVVKASQYVELANDLEIN
KAVTYLRQKDYNQAVEILKVLEKKDSRVKSAAATNLSALYYMGKDFAQASSYADIAVNSD
RYNPAALTNKGNTVFANGDYEKAAEFYKEALRNDSSCTEALYNIGLTYEKLNRLDEALDC
FLKLHAILRNSAEVLYQIANIYELMENPSQAIEWLMQVVSVIPTDPQVLSKLGELYDREG
DKSQAFQYYYESYRYFPCNIEVIEWLGAYYIDTQFWEKAIQYFERASLIQPTQVKWQLMV
ASCFRRSGNYQKALDTYKDTHRKFPENVECLRFLVRLCTDLGLKDAQEYARKLKRLEKMK
EIREQRIKSGRDGSGGSRGKREGSASGDSGQNYSASSKGERLSARLRALPGTNEPYESSS
NKEIDASYVDPLGPQIERPKTAAKKRIDEDDFADEELGDDLLPE
Sequence length 824
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Hedgehog 'off' state
Intraflagellar transport
Aggrephagy
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (10)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs79793487 RCV005902588
Gastric cancer Uncertain significance; Benign rs201216388, rs79793487 RCV005928563
RCV005902590
Hepatocellular carcinoma Benign rs79793487 RCV005902589
IFT88-related disorder Likely benign; Benign rs763771455, rs199610348, rs201009750, rs145475438, rs9315740, rs147702145, rs113493127, rs202072254, rs148678288, rs777978633, rs376404653, rs200497156, rs147013462, rs1185740702, rs773811832
View all (2 more)		 RCV003923378
RCV003950992
RCV003958681
RCV003933647
RCV003911338
RCV003958850
RCV003933485
RCV003968760
RCV003903362
RCV003961098
RCV003903773
RCV003961167
RCV003926516
RCV003894301
RCV003904689
RCV003969178
RCV003977925
Show/Hide Text Mining Associations (16)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 26202055
Carcinogenesis Associate 28489570
Carcinoma Hepatocellular Associate 22974282, 28489570, 35368955
Cleft Palate Associate 30953423
Emphysema Associate 31419013
Erythema elevatum diutinum Associate 37239394
Fibrocystic Breast Disease Associate 26202055
Glioma Associate 37830570
Hypoxia Associate 22974282
Idiopathic Pulmonary Fibrosis Associate 29477141, 35608953